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_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_TissueType	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_AccessionNumbers1	i_HGNC_CCDSIDs	i_HGNC_CCDSIDs1	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_DateModified1	i_HGNC_DateNameChanged1	i_HGNC_DateSymbolChanged1	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnsemblGeneID1	i_HGNC_EnsemblIDsuppliedbyEnsembl1	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_Genefamilydescription1	i_HGNC_HGNCID	i_HGNC_HGNCID1	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_LocusGroup1	i_HGNC_LocusType1	i_HGNC_NameSynonyms	i_HGNC_NameSynonyms1	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_OMIMIDsuppliedbyNCBI1	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PreviousNames1	i_HGNC_PreviousSymbols1	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_PubmedIDs1	i_HGNC_RecordType	i_HGNC_RecordType1	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_RefSeqsuppliedbyNCBI1	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UCSCIDsuppliedbyUCSC1	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_UniProtIDsuppliedbyUniProt1	i_HGNC_VEGAIDs	i_HGNC_VEGAIDs1	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_GERP_NR1	i_dbNSFP_GERP_RS1	i_dbNSFP_GERP_RS_rankscore1	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_folddegenerate	i_dbNSFP_folddegenerate1	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	i_dbNSFP_hg18_pos1coor1	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
MTOR	2475	broad.mit.edu	37	1	11169374	11169374	+	Missense_Mutation	SNP	T	T	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr1:11169374T>A	ENST00000361445.4	-	56	7577	c.7501A>T	c.(7501-7503)Att>Ttt	p.I2501F	MTOR_ENST00000376838.1_Missense_Mutation_p.I706F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2501	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)	ACCCTGTTAATAATCTGGATA	0.413																																						ENST00000361445.4											0			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						c.(7501-7503)Att>Ttt	mechanistic target of rapamycin (serine/threonine kinase)						177	156	163					1																	11169374		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.chr1:11169374T>A	L34075	L34075	CCDS127.1	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793	ENSG00000198793	ENSG00000198793				3942	3942	protein-coding gene	gene with protein product	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"	"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	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	8008069, 8660990	Standard	Standard	NM_004958	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	uc001asd.3	P42345	P42345	OTTHUMG00000002001	OTTHUMG00000002001	ENST00000361445.4:c.7501A>T	1.37:g.11169374T>A	ENSP00000354558:p.Ile2501Phe		MTOR_ENST00000376838.1_Missense_Mutation_p.I706F	p.I2501F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			56	7577	-			2501	PI3K/PI4K.	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.7501A>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180381	0.78677	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.28454	3.1;2.84;1.61	5.82	5.82	0.92795	5.82	5.82	0.92795	Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.85197	2.74	0.80722	D	1	D	0.62365	0.991	P	0.54924	0.764	T	0.61178	-0.7115	10	0.72032	D	0.01	-1.8424	13.9151	0.63893	0.0:0.0:0.0:1.0	.	2501	P42345	MTOR_HUMAN	F	2501;706;157	ENSP00000354558:I2501F;ENSP00000366034:I706F;ENSP00000398745:I157F	ENSP00000354558:I2501F	I	-	1	0	0	MTOR	11091961	11091961	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.466000	0.80914	2.223000	0.72356	0.482000	0.46254	ATT		0.413	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		13.329645	0	0	122	122	NM_004958		9	21.782087	21.782087	57	0.136364	0	0	0	1	0	9	57	0.136364	A	11169374	T	A	11169374	3	1	1	1	0	0	0	0	1	0	0	0	9954	1406	49	5	160	5	MTOR	1	11169374	Missense_Mutation	SNP	T	TCGA-RZ-AB0B-01A-11D-A39W-08		11169374	238081247	1	1			1	1		2	2	39	N	T_A	2.332258e-05
MTOR	2475	broad.mit.edu	37	1	11169412	11169412	+	Missense_Mutation	SNP	A	A	C			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr1:11169412A>C	ENST00000361445.4	-	56	7539	c.7463T>G	c.(7462-7464)gTg>gGg	p.V2488G	MTOR_ENST00000376838.1_Missense_Mutation_p.V693G	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2488	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			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)	CTCTGGTTTCACCAAACCGTC	0.393																																						ENST00000361445.4											0			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						c.(7462-7464)gTg>gGg	mechanistic target of rapamycin (serine/threonine kinase)						134	123	127					1																	11169412		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.chr1:11169412A>C	L34075	L34075	CCDS127.1	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793	ENSG00000198793	ENSG00000198793				3942	3942	protein-coding gene	gene with protein product	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"	"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	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	8008069, 8660990	Standard	Standard	NM_004958	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	uc001asd.3	P42345	P42345	OTTHUMG00000002001	OTTHUMG00000002001	ENST00000361445.4:c.7463T>G	1.37:g.11169412A>C	ENSP00000354558:p.Val2488Gly		MTOR_ENST00000376838.1_Missense_Mutation_p.V693G	p.V2488G	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			56	7539	-			2488	PI3K/PI4K.	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.7463T>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428641	0.43122	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.23552	3.21;2.96;1.9	5.82	5.82	0.92795	5.82	5.82	0.92795	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.056274	0.64402	D	0.000001	T	0.13200	0.0320	N	0.04297	-0.235	0.80722	D	1	B	0.20671	0.047	B	0.18263	0.021	T	0.17137	-1.0379	10	0.24483	T	0.36	-21.7174	13.9151	0.63893	1.0:0.0:0.0:0.0	.	2488	P42345	MTOR_HUMAN	G	2488;693;144	ENSP00000354558:V2488G;ENSP00000366034:V693G;ENSP00000398745:V144G	ENSP00000354558:V2488G	V	-	2	0	0	MTOR	11091999	11091999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.690000	0.91272	2.223000	0.72356	0.482000	0.46254	GTG		0.393	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		170.713520	0	0	110	110	NM_004958		49	178.406859	178.406859	7	0.875	0	0	0	1	0	49	7	0.875	C	11169412	A	C	11169412	3	2	1	1	0	0	0	0	1	0	0	0	9954	159	6	5	198	5	MTOR	1	11169412	Missense_Mutation	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08	38	11169412	238081209	2	2			1	1		2	2	39	N	T_A	2.332258e-05
APLF	200558	broad.mit.edu	37	2	68753323	68753323	+	Silent	SNP	A	A	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr2:68753323A>T	ENST00000303795.4	+	6	924	c.753A>T	c.(751-753)acA>acT	p.T251T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	251					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AACAAGACACAGGAGAAGAGT	0.338																																						ENST00000303795.4											0			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(751-753)acA>acT	aprataxin and PNKP like factor						108	112	110					2																	68753323		2203	4300	6503	SO:0001819	synonymous_variant	200558			double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68753323A>T	BC030711	BC030711	CCDS1888.1	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621	ENSG00000169621	ENSG00000169621				28724	28724	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	611035	"chromosome 2 open reading frame 13"	C2orf13	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	18474613, 18077224, 17353262	Standard	Standard	NM_173545	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	uc002sep.3	Q8IW19	Q8IW19	OTTHUMG00000129566	OTTHUMG00000129566	ENST00000303795.4:c.753A>T	2.37:g.68753323A>T				p.T251T	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			6	924	+			251		A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.753A>T	CCDS1888.1																																																																																									0.338	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1		-4.722614	0	0	60	60	NM_173545		3	6.777261	6.777261	52	0.054545	0	0	0	1	0	3	52	0.054545	T	68753323	A	T	68753323	2	4	1	1	0	0	0	0	0	0	0	1	776	175	7	5		5	APLF	2	68753323	Silent	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08		68753323	174446050	3	3											
BAP1	51533	broad.mit.edu	37	3	52442457	52442503	+	5'Flank	DEL	CACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	CACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	-	rs368029207		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr3:52442457_52442503delCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Splice_Site_p.FAHQV82fs|BAP1_ENST00000296288.5_Splice_Site_p.FAHQV82fs|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.F81L(1)|p.Q85*(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATT	0.502																																						ENST00000460680.1											2	Substitution - Nonsense(1)|Substitution - Missense(1)	eye(1)|lung(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(241-258)ttctttgcccaccaggtc>ttc	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001631	upstream_gene_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52442457_52442503delCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"Zinc fingers, PHD-type"		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3:g.52442457_52442503delCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	Exception_encountered		PHF7_ENST00000347025.2_5'Flank|PHF7_ENST00000327906.3_5'Flank|BAP1_ENST00000296288.5_Splice_Site_p.FAHQV82fs	p.FAHQV82fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	4	713_727	-			0	Interaction with HIP2.	K4DI82	Splice_Site	DEL	ENST00000327906.3		c.242_256delTCTTTGCCCACCAGGTCTGCTGGACTCTGTGCTTTGTTTGGAGGGTG	CCDS2854.1																																																																																									0.502	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	5.720000e+00	4.700000e+00	0	0	12	12	NM_016483		1			0	1						1	0	1	-	52442503	CACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	-	52442457	6	5	1	0	1	1	0	1	0	0	0	0	1311	609	21	0		0	BAP1	3	52442457	5'Flank	DEL	CACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGA	TCGA-RZ-AB0B-01A-11D-A39W-08		52442457	145579973	4	4											
ARSJ	79642	broad.mit.edu	37	4	114823726	114823726	+	Missense_Mutation	SNP	G	G	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr4:114823726G>T	ENST00000315366.7	-	2	2370	c.1504C>A	c.(1504-1506)Cca>Aca	p.P502T	ARSJ_ENST00000541197.1_Missense_Mutation_p.P502T	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	502					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CTCTCATATGGGTCGGCTGTG	0.512																																						ENST00000315366.7											0			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(1504-1506)Cca>Aca	arylsulfatase family, member J						77	74	75					4																	114823726		1929	4132	6061	SO:0001583	missense	79642				extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114823726G>T			CCDS43264.1	CCDS43264.1	4q26	2013-02-14	2006-03-07		2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801	ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	"Arylsulfatase family"	26286	26286	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610010	610010	"arylsulfatase J"		"arylsulfatase J"			12975309, 16174644	12975309, 16174644	Standard	Standard	NM_024590	NM_024590		Approved	FLJ23548	uc003ibq.1	uc003ibq.1	Q5FYB0	Q5FYB0	OTTHUMG00000161067	OTTHUMG00000161067	ENST00000315366.7:c.1504C>A	4.37:g.114823726G>T	ENSP00000320219:p.Pro502Thr		ARSJ_ENST00000541197.1_Missense_Mutation_p.P502T	p.P502T	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	2370	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	502		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.1504C>A	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046908	0.75846	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.98234	-4.81;-4.81	5.41	5.41	0.78517	5.41	5.41	0.78517	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.369476	0.27526	N	0.018969	D	0.99360	0.9775	H	0.96547	3.84	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98730	1.0712	10	0.72032	D	0.01	.	19.2114	0.93757	0.0:0.0:1.0:0.0	.	502;502	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	T	502;502;71	ENSP00000320219:P502T;ENSP00000438836:P502T	ENSP00000320219:P502T	P	-	1	0	0	ARSJ	115043175	115043175	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.697000	0.98697	2.544000	0.85801	0.655000	0.94253	CCA		0.512	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1		62.495828	0	0	57	57	NM_024590		20	62.616527	62.616527	25	0.444444	1	0	1.96292e-10	1	2.11392e-10	20	25	0.444444	T	114823726	G	T	114823726	3	4	1	1	0	0	0	0	1	0	0	0	995	1232	43	5	299	5	ARSJ	4	114823726	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		114823726	76330550	5	5											
DNAH8	1769	broad.mit.edu	37	6	38828378	38828378	+	Missense_Mutation	SNP	G	G	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr6:38828378G>A	ENST00000359357.3	+	41	5707	c.5453G>A	c.(5452-5454)cGt>cAt	p.R1818H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2035H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1818H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1818	AAA 1. {ECO:0000250}.				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						TGTACTGATCGTCTTGTTATC	0.289																																						ENST00000359357.3											0			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						c.(5452-5454)cGt>cAt	dynein, axonemal, heavy chain 8						97	98	98					6																	38828378		2203	4299	6502	SO:0001583	missense	1769						g.chr6:38828378G>A	Z83806	Z83806	CCDS75447.1	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	"Axonemal dyneins"	2952	2952	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603337	603337	"dynein, axonemal, heavy polypeptide 8"		"dynein, axonemal, heavy polypeptide 8"			9373155	9373155	Standard	Standard	NM_001206927	NM_001206927		Approved	hdhc9	uc021yzh.1	uc021yzh.1	Q96JB1	Q96JB1	OTTHUMG00000016253	OTTHUMG00000016253	ENST00000359357.3:c.5453G>A	6.37:g.38828378G>A	ENSP00000352312:p.Arg1818His		DNAH8_ENST00000449981.2_Missense_Mutation_p.R2035H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1818H	p.R1818H							41	5707	+					O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5453G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.178752	0.94846	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.15017	2.46;2.46;2.46	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64024	-0.6504	10	0.87932	D	0	.	19.177	0.93605	0.0:0.0:1.0:0.0	.	1818	Q96JB1	DYH8_HUMAN	H	2023;2023;1818;1818	ENSP00000333363:R2023H;ENSP00000352312:R1818H;ENSP00000402294:R1818H	ENSP00000333363:R2023H	R	+	2	0	0	DNAH8	38936356	38936356	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.869000	0.99810	2.525000	0.85131	0.650000	0.86243	CGT		0.289	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		5.770815	0	0	74	74	NM_001206927		7	17.469906	17.469906	65	0.097222	0	0	0	1	0	7	65	0.097222	A	38828378	G	A	38828378	3	1	1	1	0	0	0	0	1	0	0	0	4607	1145	40	1	5607	1	DNAH8	6	38828378	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		38828378	132286689	6	6											
ABCB4	5244	ucsc.edu	37	7	87083881	87083881	+	Missense_Mutation	SNP	G	G	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr7:87083881G>A	ENST00000265723.4	-	5	425	c.314C>T	c.(313-315)cCa>cTa	p.P105L	ABCB4_ENST00000453593.1_Missense_Mutation_p.P105L|ABCB4_ENST00000545634.1_Missense_Mutation_p.P105L|ABCB4_ENST00000359206.3_Missense_Mutation_p.P105L|ABCB4_ENST00000358400.3_Missense_Mutation_p.P105L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	105	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AATTTTGCCTGGATTTAGCAG	0.274																																																	0																	43	47	46					7																	87083881		2202	4296	6498	SO:0001583	missense	5244							M23234	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			2012-03-14			ENSG00000005471	ENSG00000005471	ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	"ATP binding cassette transporters / subfamily B"	45	45	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			171060	171060		PGY3, MDR3		PGY3, MDR3		2892668, 11313316	2892668, 11313316	Standard	Standard	NM_018850	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	uc003uiv.1	P21439	P21439	OTTHUMG00000023396	OTTHUMG00000023396	ENST00000265723.4:c.314C>T	7.37:g.87083881G>A	ENSP00000265723:p.Pro105Leu																	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37		CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711792	0.48517	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.87103	-2.14;-2.21;-2.19;-2.21;-2.14	5.4	5.4	0.78164	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.465118	0.21477	N	0.073894	T	0.79610	0.4475	N	0.14661	0.345	0.58432	D	0.999997	B;P;B;B	0.35242	0.001;0.492;0.0;0.002	B;B;B;B	0.38225	0.01;0.268;0.003;0.012	T	0.77346	-0.2622	10	0.26408	T	0.33	-7.5299	16.2583	0.82528	0.0:0.0:1.0:0.0	.	105;105;105;105	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	L	105	ENSP00000352135:P105L;ENSP00000351172:P105L;ENSP00000265723:P105L;ENSP00000392983:P105L;ENSP00000437465:P105L	ENSP00000265723:P105L	P	-	2	0	0	ABCB4	86921817	86921817	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.407000	0.52644	2.699000	0.92147	0.555000	0.69702	CCA		0.274	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1			0	0	55	55	NM_000443		4			33							4	33		A	87083881	G	A	87083881	3	1	1	1	0	0	0	0	1	0	0	0	43	1348	47	3	3642	3	ABCB4	7	87083881	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		87083881	72054782	7	7											
TSC22D4	81628	broad.mit.edu	37	7	100074941	100074941	+	Missense_Mutation	SNP	G	G	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr7:100074941G>A	ENST00000300181.2	-	2	1475	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	TSC22D4_ENST00000393991.1_Missense_Mutation_p.R2W|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	241					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCCGCAGCCGCATGTCTACA	0.652																																						ENST00000300181.2											0			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(721-723)Cgg>Tgg	TSC22 domain family, member 4						61	65	64					7																	100074941		2203	4300	6503	SO:0001583	missense	81628			negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100074941G>A	BC010406	BC010406	CCDS5695.1	CCDS5695.1	7p21-p15	2010-04-30			2010-04-30			ENSG00000166925	ENSG00000166925	ENSG00000166925	ENSG00000166925				21696	21696	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611914	611914								Standard	Standard	NM_030935	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	uc003uva.3	Q9Y3Q8	Q9Y3Q8	OTTHUMG00000150233	OTTHUMG00000150233	ENST00000300181.2:c.721C>T	7.37:g.100074941G>A	ENSP00000300181:p.Arg241Trp		TSC22D4_ENST00000393991.1_Missense_Mutation_p.R2W|TSC22D4_ENST00000496728.1_5'UTR	p.R241W	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN			2	1475	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		241		A4D2C3|A8MWR6|D6W5V9	Missense_Mutation	SNP	ENST00000300181.2	37	c.721C>T	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802794	0.31869	.	.	ENSG00000166925	ENST00000300181;ENST00000393991	.	.	.	4.33	3.35	0.38373	4.33	3.35	0.38373	.	0.358712	0.20599	N	0.089183	T	0.19886	0.0478	N	0.14661	0.345	0.21290	N	0.99974	D;D	0.60160	0.987;0.978	P;B	0.47705	0.555;0.249	T	0.04664	-1.0935	9	0.42905	T	0.14	-4.8287	6.3839	0.21550	0.136:0.0:0.864:0.0	.	241;241	Q8IV54;Q9Y3Q8	.;T22D4_HUMAN	W	241;2	.	ENSP00000300181:R241W	R	-	1	2	2	TSC22D4	99912877	99912877	0.739000	0.28196	0.608000	0.28969	0.589000	0.36550	1.724000	0.38064	2.255000	0.74692	0.549000	0.68633	CGG		0.652	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1		-1.635802	0	0	64	64	NM_030935		4	8.155715	8.155715	49	0.075472	0	0	0	1	0	4	49	0.075472	A	100074941	G	A	100074941	3	1	1	1	0	0	0	0	1	0	0	0	16607	1086	38	1	482	1	TSC22D4	7	100074941	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08	12991060	100074941	59063722	8	8											
LSM1	27257	broad.mit.edu	37	8	38021245	38021245	+	Missense_Mutation	SNP	C	C	G			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr8:38021245C>G	ENST00000311351.4	-	4	740	c.345G>C	c.(343-345)caG>caC	p.Q115H	RP11-90P5.7_ENST00000521915.1_RNA|RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_3'UTR	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	115					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					CCTTCAGGGCCTGCACTTTCA	0.488																																						ENST00000311351.4											0			kidney(2)|large_intestine(3)|lung(2)	7						c.(343-345)caG>caC	LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)						160	133	142					8																	38021245		2203	4300	6503	SO:0001583	missense	27257			exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr8:38021245C>G	AF000177	AF000177	CCDS6103.1	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324	ENSG00000175324	ENSG00000175324				20472	20472	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607281	607281	"LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"		"LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"			12515382, 11953827	12515382, 11953827	Standard	Standard	NM_014462	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	uc003xkw.3	O15116	O15116	OTTHUMG00000164051	OTTHUMG00000164051	ENST00000311351.4:c.345G>C	8.37:g.38021245C>G	ENSP00000310596:p.Gln115His		RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_3'UTR	p.Q115H	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN			4	740	-	Colorectal(12;0.000442)		115		B2R5E6	Missense_Mutation	SNP	ENST00000311351.4	37	c.345G>C	CCDS6103.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413204	0.42817	.	.	ENSG00000175324	ENST00000311351	.	.	.	5.91	2.64	0.31445	5.91	2.64	0.31445	.	0.053094	0.85682	D	0.000000	T	0.46795	0.1411	L	0.48362	1.52	0.80722	D	1	P	0.37038	0.579	B	0.34418	0.182	T	0.48445	-0.9035	9	0.62326	D	0.03	-10.3867	9.8378	0.40980	0.0:0.6306:0.0:0.3694	.	115	O15116	LSM1_HUMAN	H	115	.	ENSP00000310596:Q115H	Q	-	3	2	2	LSM1	38140402	38140402	1.000000	0.71417	0.963000	0.40424	0.817000	0.46193	1.652000	0.37313	0.791000	0.33826	0.650000	0.86243	CAG		0.488	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1		60.967260	0	0	58	58	NM_014462		21	61.083299	61.083299	26	0.446809	0	0	0	1	0	21	26	0.446809	G	38021245	C	G	38021245	3	3	1	1	0	0	0	0	1	0	0	0	9050	680	24	5	60	5	LSM1	8	38021245	Missense_Mutation	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08		38021245	108342777	9	9											
COL14A1	7373	broad.mit.edu	37	8	121224799	121224799	+	Missense_Mutation	SNP	C	C	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr8:121224799C>T	ENST00000297848.3	+	13	1850	c.1580C>T	c.(1579-1581)aCg>aTg	p.T527M	COL14A1_ENST00000247781.3_Missense_Mutation_p.T432M|COL14A1_ENST00000537875.1_Missense_Mutation_p.T527M|COL14A1_ENST00000309791.4_Missense_Mutation_p.T527M|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATCCTGTTACGGGACAAGAA	0.443																																						ENST00000297848.3											0			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1579-1581)aCg>aTg	collagen, type XIV, alpha 1						111	101	104					8																	121224799		2203	4300	6503	SO:0001583	missense	7373			cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121224799C>T			CCDS34938.1	CCDS34938.1	8q23	2013-02-11	2008-02-04		2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955	ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	"Collagens", "Fibronectin type III domain containing"	2191	2191	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120324	120324	"undulin"	UND	"undulin"	UND		1716629, 9427527	1716629, 9427527	Standard	Standard	NM_021110	NM_021110		Approved		uc003yox.4	uc003yox.4	Q05707	Q05707	OTTHUMG00000149877	OTTHUMG00000149877	ENST00000297848.3:c.1580C>T	8.37:g.121224799C>T	ENSP00000297848:p.Thr527Met		COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T527M|COL14A1_ENST00000247781.3_Missense_Mutation_p.T432M|COL14A1_ENST00000537875.1_Missense_Mutation_p.T527M	p.T527M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		13	1850	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		527	Fibronectin type-III 3.		Missense_Mutation	SNP	ENST00000297848.3	37	c.1580C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591516	0.86953	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	6.17	6.17	0.99709	6.17	6.17	0.99709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.053628	0.64402	D	0.000001	T	0.30947	0.0781	M	0.86268	2.805	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;P	0.65233	0.933;0.825	T	0.01071	-1.1461	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	527;527	Q05707-2;Q05707	.;COEA1_HUMAN	M	527;527;527;432;340	ENSP00000443974:T527M;ENSP00000311809:T527M;ENSP00000297848:T527M;ENSP00000247781:T432M;ENSP00000409461:T340M	ENSP00000247781:T432M	T	+	2	0	0	COL14A1	121293980	121293980	1.000000	0.71417	0.912000	0.35992	0.952000	0.60782	7.247000	0.78257	2.941000	0.99782	0.655000	0.94253	ACG		0.443	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		330.526719	0	0	60	60	NM_021110		96	342.270037	342.270037	20	0.827586	0	0	0	1	0	96	20	0.827586	T	121224799	C	T	121224799	3	4	1	1	0	0	0	0	1	0	0	0	3671	536	19	1	1626	1	COL14A1	8	121224799	Missense_Mutation	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08	83203554	121224799	25139223	10	10											
VCL	7414	ucsc.edu	37	10	75867112	75867112	+	Splice_Site	SNP	A	A	G			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr10:75867112A>G	ENST00000211998.4	+	17	2653	c.2559A>G	c.(2557-2559)cgA>cgG	p.R853R	VCL_ENST00000372755.3_Splice_Site_p.R853R|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	853	Linker (Pro-rich).|Pro-rich.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AACAACTCCGAGTAAGTAAAT	0.512																																																	0																	54	53	53					10																	75867112		2203	4300	6503	SO:0001630	splice_region_variant	7414							M33308	M33308	CCDS7340.1, CCDS7341.1	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			2014-09-17			ENSG00000035403	ENSG00000035403	ENSG00000035403	ENSG00000035403				12665	12665	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"metavinculin"	"metavinculin"	193065	193065						1339348	1339348	Standard	Standard	NM_014000	NM_014000		Approved		uc001jwd.3	uc001jwd.3	P18206	P18206	OTTHUMG00000018498	OTTHUMG00000018498	ENST00000211998.4:c.2559+1A>G	10.37:g.75867112A>G																		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37		CCDS7341.1																																																																																									0.512	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				0	0	50	50	NM_003373, NM_014000	Silent	4			30							4	30		G	75867112	A	G	75867112	5	3	1	1	0	0	0	0	0	0	1	0	17136	318	11	4	2625	4	VCL	10	75867112	Splice_Site	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08		75867112	59667635	11	11											
POU4F1	5457	broad.mit.edu	37	13	79175838	79175838	+	Silent	SNP	C	C	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr13:79175838C>T	ENST00000377208.5	-	2	1183	c.972G>A	c.(970-972)gcG>gcA	p.A324A	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	324	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TGGGCTTGAGCGCGATCATGT	0.637																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5											0			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(970-972)gcG>gcA	POU class 4 homeobox 1						38	36	37					13																	79175838		2203	4300	6503	SO:0001819	synonymous_variant	5457			axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175838C>T	X64624	X64624	CCDS31996.1	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192	ENSG00000152192	ENSG00000152192		"Homeoboxes / POU class"	"Homeoboxes / POU class"	9218	9218	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601632	601632	"POU domain class 4, transcription factor 1"	BRN3A	"POU domain class 4, transcription factor 1"	BRN3A		1357630	1357630	Standard	Standard	NM_006237	NM_006237		Approved	RDC-1	uc001vkv.3	uc001vkv.3	Q01851	Q01851	OTTHUMG00000017119	OTTHUMG00000017119	ENST00000377208.5:c.972G>A	13.37:g.79175838C>T			RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA	p.A324A	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1183	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	324	POU-specific.	Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.972G>A	CCDS31996.1																																																																																									0.637	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3		3.413491	0	0	25	25			3	6.950111	6.950111	22	0.12	0	0	0	1	0	3	22	0.12	T	79175838	C	T	79175838	2	4	1	1	0	0	0	0	0	0	0	1	12278	755	27	1		1	POU4F1	13	79175838	Silent	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08		79175838	35994040	12	12											
C15orf60	283677	broad.mit.edu	37	15	73852150	73852150	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr15:73852150G>T	ENST00000331090.6	+	6	722	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	C15orf60_ENST00000560581.1_Nonsense_Mutation_p.E204*	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		232					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						ATGGGGTGCAGAAGAGTTAGG	0.478																																						ENST00000331090.6											0			endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						c.(694-696)Gaa>Taa	chromosome 15 open reading frame 60						91	89	89					15																	73852150		1850	4085	5935	SO:0001587	stop_gained	283677						g.chr15:73852150G>T																																																	ENST00000331090.6:c.694G>T	15.37:g.73852150G>T	ENSP00000328423:p.Glu232*		C15orf60_ENST00000560581.1_Nonsense_Mutation_p.E204*	p.E232*	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN			6	722	+			232			Nonsense_Mutation	SNP	ENST00000331090.6	37	c.694G>T	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530040	0.27387	.	.	ENSG00000183324	ENST00000331090	.	.	.	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.694289	0.14214	N	0.333848	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-5.7041	15.7463	0.77944	0.0:0.1456:0.8544:0.0	.	.	.	.	X	232	.	ENSP00000328423:E232X	E	+	1	0	0	C15orf60	71639203	71639203	0.924000	0.31332	0.008000	0.14137	0.431000	0.31685	3.797000	0.55514	2.857000	0.98124	0.650000	0.86243	GAA		0.478	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1		0.097933	0	0	87	87			6	12.540485	12.540485	65	0.084507	1	0	0.00198382	1	0.00198382	6	65	0.084507	T	73852150	G	T	73852150	4	4	1	1	0	0	0	0	0	1	0	0	1808	943	33	5	716	5	C15orf60	15	73852150	Nonsense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		73852150	28679242	13	13											
PPP4R1	9989	broad.mit.edu	37	18	9550172	9550172	+	Missense_Mutation	SNP	C	C	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr18:9550172C>A	ENST00000400556.3	-	18	2498	c.2425G>T	c.(2425-2427)Gtg>Ttg	p.V809L	PPP4R1_ENST00000400555.3_Missense_Mutation_p.V792L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	809					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AGCTTCTTCACCATCTCGCTG	0.483																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3											0			large_intestine(1)|skin(2)	3						c.(2425-2427)Gtg>Ttg	protein phosphatase 4, regulatory subunit 1						72	80	77					18																	9550172		2074	4215	6289	SO:0001583	missense	9989			protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9550172C>A	AF111106	AF111106	CCDS42412.1, CCDS42413.1	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			2010-06-18			ENSG00000154845	ENSG00000154845	ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	9320	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604908	604908						10026142	10026142	Standard	Standard	NM_001042388	NM_001042388		Approved	PP4R1	uc002koe.2	uc002koe.2	Q8TF05	Q8TF05	OTTHUMG00000137466	OTTHUMG00000137466	ENST00000400556.3:c.2425G>T	18.37:g.9550172C>A	ENSP00000383402:p.Val809Leu		PPP4R1_ENST00000400555.3_Missense_Mutation_p.V792L	p.V809L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			18	2498	-			809		Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.2425G>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	8.003	0.755744	0.15846	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.28069	1.63;1.63	5.62	5.62	0.85841	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.229234	0.38492	N	0.001671	T	0.14442	0.0349	N	0.02865	-0.47	0.53688	D	0.999975	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.10450	0.004;0.003;0.005	T	0.17715	-1.0360	9	.	.	.	-29.6409	15.5022	0.75709	0.0:0.8622:0.1378:0.0	.	792;809;792	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	L	809;792	ENSP00000383402:V809L;ENSP00000383401:V792L	.	V	-	1	0	0	PPP4R1	9540172	9540172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.728000	0.47319	2.804000	0.96469	0.655000	0.94253	GTG		0.483	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1		53.737057	0	0	64	64	NM_005134		18	54.495149	54.495149	31	0.367347	1	0	2.70639e-06	1	2.80663e-06	18	31	0.367347	A	9550172	C	A	9550172	3	1	1	1	0	0	0	0	1	0	0	0	12403	507	18	5	439	5	PPP4R1	18	9550172	Missense_Mutation	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08		9550172	68527076	14	14											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		77.036419	0	0	81	81	NM_002067		26	77.860796	77.860796	42	0.382353	0	0	0	1	0	26	42	0.382353	T	3118942	A	T	3118942	3	4	1	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08		3118942	56010041	15	15											
SHANK1	50944	broad.mit.edu	37	19	51220008	51220008	+	Missense_Mutation	SNP	G	G	A			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr19:51220008G>A	ENST00000293441.1	-	1	187	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	SHANK1_ENST00000359082.3_Missense_Mutation_p.L57F|SHANK1_ENST00000391814.1_Missense_Mutation_p.L57F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	57					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGCCCTGGAGGCCTCTAACA	0.672																																						ENST00000293441.1											0			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(169-171)Ctc>Ttc	SH3 and multiple ankyrin repeat domains 1						51	46	48					19																	51220008		2203	4300	6503	SO:0001583	missense	50944			cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51220008G>A	AF163302	AF163302	CCDS12799.1	CCDS12799.1	19q13.3	2013-01-10			2013-01-10			ENSG00000161681	ENSG00000161681	ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	15474	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	"somatostatin receptor-interacting protein"	604999	604999						10551867	10551867	Standard	Standard	NM_016148	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	uc002psx.1	Q9Y566	Q9Y566	OTTHUMG00000137380	OTTHUMG00000137380	ENST00000293441.1:c.169C>T	19.37:g.51220008G>A	ENSP00000293441:p.Leu57Phe		SHANK1_ENST00000359082.3_Missense_Mutation_p.L57F|SHANK1_ENST00000391814.1_Missense_Mutation_p.L57F	p.L57F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	187	-		all_neural(266;0.057)	57		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.169C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048774	0.36181	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.40476	1.14;1.13;1.03	3.18	2.12	0.27331	3.18	2.12	0.27331	.	1.696560	0.05419	U	0.543844	T	0.25975	0.0633	N	0.08118	0	0.29684	N	0.841484	B	0.12630	0.006	B	0.08055	0.003	T	0.27536	-1.0071	10	0.54805	T	0.06	.	8.3835	0.32486	0.1257:0.0:0.8743:0.0	.	57	Q9Y566	SHAN1_HUMAN	F	57	ENSP00000293441:L57F;ENSP00000351984:L57F;ENSP00000375690:L57F	ENSP00000293441:L57F	L	-	1	0	0	SHANK1	55911820	55911820	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	3.299000	0.51826	0.461000	0.27071	0.282000	0.19409	CTC		0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		1.201187	0	0	37	37	NM_016148		3	7.026769	7.026769	31	0.088235	0	0	0	1	0	3	31	0.088235	A	51220008	G	A	51220008	3	1	1	1	0	0	0	0	1	0	0	0	14264	1000	35	3	6408	3	SHANK1	19	51220008	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08	48101066	51220008	7908975	16	16											
LILRA2	11027	broad.mit.edu	37	19	55086935	55086935	+	Missense_Mutation	SNP	G	G	A	rs368237647		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr19:55086935G>A	ENST00000251377.3	+	6	1001	c.868G>A	c.(868-870)Ggg>Agg	p.G290R	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.G290R|LILRA2_ENST00000391738.3_Missense_Mutation_p.G290R|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G278R			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	290	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G290W(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCCTCCCACGGGGGCCAGTA	0.657																																						ENST00000251377.3											1	Substitution - Missense(1)	lung(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(868-870)Ggg>Agg	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	49	50	50		868,868	-0.9	0	19		50	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	LILRA2	NM_001130917.1,NM_006866.2	125,125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	290/484,290/467	55086935	1,13003	2203	4299	6502	SO:0001583	missense	0						g.chr19:55086935G>A	U82275	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			2013-01-11			ENSG00000239998	ENSG00000239998	ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	6603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604812	604812						9079806, 9548455	9079806, 9548455	Standard	Standard	XM_005258452	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7			Q8N149	Q8N149	OTTHUMG00000065703	OTTHUMG00000065703	ENST00000251377.3:c.868G>A	19.37:g.55086935G>A	ENSP00000251377:p.Gly290Arg		LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G278R|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G290R|LILRA2_ENST00000251376.3_Missense_Mutation_p.G290R|LILRB1_ENST00000448689.1_Intron	p.G290R						GBM - Glioblastoma multiforme(193;0.0963)	6	1001	+					O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.868G>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443974	0.25987	0.0	1.16E-4	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	2.8	-0.934	0.10428	2.8	-0.934	0.10428	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.218720	0.06017	N	0.650667	T	0.12944	0.0314	L	0.33753	1.03	0.09310	N	1	P;P;P;P	0.49559	0.925;0.692;0.692;0.514	P;B;B;B	0.46299	0.511;0.344;0.344;0.231	T	0.26395	-1.0104	10	0.52906	T	0.07	.	5.3337	0.15945	0.4728:0.0:0.5272:0.0	.	290;278;290;290	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	290;290;290;290;278	ENSP00000388131:G290R;ENSP00000251377:G290R;ENSP00000375618:G290R;ENSP00000251376:G290R;ENSP00000375617:G278R	ENSP00000251376:G290R	G	+	1	0	0	LILRA2	59778747	59778747	0.000000	0.05858	0.001000	0.08648	0.179000	0.23085	-1.676000	0.01946	-0.239000	0.09710	0.400000	0.26472	GGG		0.657	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		94.246578	0	0	54	54			30	94.300764	94.300764	34	0.46875	0	0	0	1	0	30	34	0.46875	A	55086935	G	A	55086935	3	1	1	1	0	0	0	0	1	0	0	0	8785	1116	39	1	886	1	LILRA2	19	55086935	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08	3866927	55086935	4042048	17	17											
EDEM2	55741	broad.mit.edu	37	20	33722607	33722607	+	Silent	SNP	C	C	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr20:33722607C>T	ENST00000374492.3	-	6	741	c.636G>A	c.(634-636)ccG>ccA	p.P212P	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000540582.1_Silent_p.P171P|EDEM2_ENST00000374491.3_Silent_p.P175P	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	212					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTTCGAACACCGGGTCACCAG	0.582																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(511-513)ccG>ccA	ER degradation enhancer, mannosidase alpha-like 2						93	80	85					20																	33722607		2203	4300	6503	SO:0001819	synonymous_variant	55741			post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33722607C>T	AK001645	AK001645	CCDS13247.1, CCDS46592.1	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298	ENSG00000088298	ENSG00000088298				15877	15877	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610302	610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	15537790, 15579471	Standard	Standard	NM_018217	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	uc002xbo.2	Q9BV94	Q9BV94	OTTHUMG00000032322	OTTHUMG00000032322	ENST00000374492.3:c.636G>A	20.37:g.33722607C>T			EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Silent_p.P212P|EDEM2_ENST00000374491.3_Silent_p.P175P|EDEM2_ENST00000541621.1_5'UTR	p.P171P			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		10	1234	-			212		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	37	c.513G>A	CCDS13247.1																																																																																									0.582	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2		-4.316697	0	0	66	66	NM_018217		3	6.627498	6.627498	50	0.056604	0	0	0	1	0	3	50	0.056604	T	33722607	C	T	33722607	2	4	1	1	0	0	0	0	0	0	0	1	4912	639	23	1		1	EDEM2	20	33722607	Silent	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08		33722607	29302913	18	18											
GMEB2	26205	broad.mit.edu	37	20	62236098	62236098	+	Nonsense_Mutation	SNP	A	A	T			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	g.chr20:62236098A>T	ENST00000266068.1	-	2	705	c.227T>A	c.(226-228)tTa>tAa	p.L76*	GMEB2_ENST00000370069.1_Nonsense_Mutation_p.L25*|GMEB2_ENST00000370077.1_Nonsense_Mutation_p.L76*			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	76					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CTTCCTACCTAACACGGCTTC	0.572																																						ENST00000266068.1											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(226-228)tTa>tAa	glucocorticoid modulatory element binding protein 2						74	72	73					20																	62236098		2203	4300	6503	SO:0001587	stop_gained	26205			regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62236098A>T	AF173867	AF173867	CCDS13528.1	CCDS13528.1	20q13.33	2008-07-02			2008-07-02			ENSG00000101216	ENSG00000101216	ENSG00000101216	ENSG00000101216				4371	4371	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607451	607451						10523663, 11743720	10523663, 11743720	Standard	Standard	NM_012384	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	uc002yfq.1	Q9UKD1	Q9UKD1	OTTHUMG00000032988	OTTHUMG00000032988	ENST00000266068.1:c.227T>A	20.37:g.62236098A>T	ENSP00000266068:p.Leu76*		GMEB2_ENST00000370077.1_Nonsense_Mutation_p.L76*|GMEB2_ENST00000370069.1_Nonsense_Mutation_p.L25*	p.L76*			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		2	705	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		76		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Nonsense_Mutation	SNP	ENST00000266068.1	37	c.227T>A	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	A	38	6.668376	0.97747	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	.	.	.	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.090745	0.46758	D	0.000270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-8.4045	14.1277	0.65233	1.0:0.0:0.0:0.0	.	.	.	.	X	25;76;76	.	ENSP00000266068:L76X	L	-	2	0	0	GMEB2	61706542	61706542	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.709000	0.68384	1.822000	0.53115	0.379000	0.24179	TTA		0.572	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1		14.439090	0	0	69	69	NM_012384		9	21.255279	21.255279	50	0.152542	0	0	0	1	0	9	50	0.152542	T	62236098	A	T	62236098	4	4	1	1	0	0	0	0	0	1	0	0	6488	372	13	5	1397	5	GMEB2	20	62236098	Nonsense_Mutation	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08	28513491	62236098	789422	19	19											
BAP1	8314	broad.mit.edu	37	3	52441394	52441446	+	Splice_Site	DEL	GCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTC	GCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTC	-	rs372943588		TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr3:52441394_52441446delGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTC	ENST00000460680.1	-	6	877_909	c.406_438delGAGTTGGCCAAGGCCCATAATAGCCATGCCAGGTGTGTGGGAGCTGTGGGAGC	c.(406-438)gagttggccaaggcccataatagccatgccaggdel	p.ELAKAHNSHAR136fs	BAP1_ENST00000296288.5_Splice_Site_p.ELAKAHNSHAR136fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(3)|p.H144fs*43(1)|p.E136*(1)|p.H144N(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTG	0.545			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	6	Unknown(3)|Substitution - Missense(1)|Substitution - Nonsense(1)|Deletion - Frameshift(1)	eye(2)|kidney(2)|lung(1)|pleura(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(406-438)gagttggccaaggcccataatagccatgccaggdel	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001630	splice_region_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52441394_52441446delGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTC	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.437+1GAGTTGGCCAAGGCCCATAATAGCCATGCCAGGTGTGTGGGAGCTGTGGGAGC>-	3:g.52441394_52441446delGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTC			BAP1_ENST00000296288.5_Splice_Site_p.ELAKAHNSHAR136fs	p.ELAKAHNSHAR136fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	6	877_909	-			0	Interaction with HIP2.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	DEL	ENST00000460680.1		c.406_438delGAGTTGGCCAAGGCCCATAATAGCCATGCCAGGTGTGTGGGAGCTGTGGGAGC	CCDS2853.1																																																																																									0.545	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	6.178000e+01	2.391000e+01	14	14	119	119		Frame_Shift_Del	8			28	0.222						8	28	0.222	-	52441446	GCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTC	-	52441394	8	5	2	1	0	1	0	1	0	0	1	0	1311	986	34	0		0	BAP1	3	52441394	Splice_Site	DEL	GCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTC	TCGA-V3-A9ZX-01A-11D-A39W-08		52441394	145581036	1	20											
DFNA5	1687	broad.mit.edu	37	7	24758768	24758768	+	Missense_Mutation	SNP	C	C	G			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr7:24758768C>G	ENST00000342947.3	-	4	899	c.474G>C	c.(472-474)ttG>ttC	p.L158F	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.L158F	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	158					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCTTCTGTGTCAAAACGCACA	0.502																																					GBM(78;184 1250 20134 20900 23600)	ENST00000342947.3											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						c.(472-474)ttG>ttC	deafness, autosomal dominant 5						214	177	189					7																	24758768		2203	4300	6503	SO:0001583	missense	1687			sensory perception of sound			g.chr7:24758768C>G	AF007790	AF007790	CCDS5389.1, CCDS47563.1	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			2011-07-01			ENSG00000105928	ENSG00000105928	ENSG00000105928	ENSG00000105928				2810	2810	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608798	608798						8589696, 9450185	8589696, 9450185	Standard	Standard	NM_004403	NM_004403		Approved	ICERE-1	uc010kus.1	uc010kus.1	O60443	O60443	OTTHUMG00000023237	OTTHUMG00000023237	ENST00000342947.3:c.474G>C	7.37:g.24758768C>G	ENSP00000339587:p.Leu158Phe		DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.L158F|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR	p.L158F	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN			4	899	-			158		A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	ENST00000342947.3	37	c.474G>C	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656975	0.47467	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.25912	1.77;1.77	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.074293	0.56097	D	0.000037	T	0.52773	0.1755	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.57780	-0.7752	10	0.72032	D	0.01	-13.3118	15.9613	0.79933	0.0:1.0:0.0:0.0	.	158;158	A4FTY0;O60443	.;DFNA5_HUMAN	F	158	ENSP00000339587:L158F;ENSP00000386670:L158F	ENSP00000339587:L158F	L	-	3	2	2	DFNA5	24725293	24725293	1.000000	0.71417	0.808000	0.32385	0.017000	0.09413	4.565000	0.60836	2.369000	0.80426	0.591000	0.81541	TTG		0.502	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2		88.981760	-3	-3	99	99	NM_004403		28	89.377208	89.377208	39	0.41791	0	0	0	1	0	28	39	0.41791	G	24758768	C	G	24758768	3	3	2	1	0	0	0	0	1	0	0	0	4454	825	29	5	1044	5	DFNA5	7	24758768	Missense_Mutation	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		24758768	134379895	2	21											
PLEKHF2	79666	broad.mit.edu	37	8	96166799	96166799	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr8:96166799G>A	ENST00000315367.3	+	2	768	c.527G>A	c.(526-528)cGc>cAc	p.R176H	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.R176H	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	176					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					CACCATTGCCGCAAATGTGGT	0.478																																						ENST00000315367.3											0			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(526-528)cGc>cAc	pleckstrin homology domain containing, family F (with FYVE domain) member 2						99	91	94					8																	96166799		2203	4300	6503	SO:0001583	missense	79666				transport vesicle	metal ion binding|protein binding	g.chr8:96166799G>A	AF434819	AF434819	CCDS6267.1	CCDS6267.1	8q22.1	2013-01-10			2013-01-10				ENSG00000175895		ENSG00000175895		"Zinc fingers, FYVE domain containing", "Pleckstrin homology (PH) domain containing"	"Zinc fingers, FYVE domain containing", "Pleckstrin homology (PH) domain containing"	20757	20757	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615208	615208								Standard	Standard	NM_024613	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	uc003yhn.2	Q9H8W4	Q9H8W4			ENST00000315367.3:c.527G>A	8.37:g.96166799G>A	ENSP00000322373:p.Arg176His		PLEKHF2_ENST00000519516.1_Missense_Mutation_p.R176H	p.R176H	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN			2	768	+	Breast(36;3.18e-05)		176			Missense_Mutation	SNP	ENST00000315367.3	37	c.527G>A	CCDS6267.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745385	0.89663	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	T;T	0.81247	-1.47;-1.47	6.07	6.07	0.98685	6.07	6.07	0.98685	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94026	0.8086	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94345	0.7574	10	0.49607	T	0.09	-12.2797	20.6525	0.99598	0.0:0.0:1.0:0.0	.	176	Q9H8W4	PKHF2_HUMAN	H	176	ENSP00000322373:R176H;ENSP00000427792:R176H	ENSP00000322373:R176H	R	+	2	0	0	PLEKHF2	96235975	96235975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.361000	0.97122	2.890000	0.99128	0.585000	0.79938	CGC		0.478	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1		-38.689581	21	21	108	108	NM_024613		5	9.03315	9.03315	187	0.026042	0	0	0	1	0	5	187	0.026042	A	96166799	G	A	96166799	3	1	2	1	0	0	0	0	1	0	0	0	12067	1087	38	1	529	1	PLEKHF2	8	96166799	Missense_Mutation	SNP	G	TCGA-V3-A9ZX-01A-11D-A39W-08		96166799	50197223	3	22											
P2RX3	5024	broad.mit.edu	37	11	57118298	57118298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr11:57118298C>A	ENST00000263314.2	+	8	802	c.768C>A	c.(766-768)tgC>tgA	p.C256*		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	256					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GGGACCAGTGCATCCCCAAAT	0.582																																						ENST00000263314.2											0			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(766-768)tgC>tgA	purinergic receptor P2X, ligand-gated ion channel, 3						102	85	91					11																	57118298		2201	4296	6497	SO:0001587	stop_gained	5024			positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57118298C>A	Y07683	Y07683	CCDS7953.1	CCDS7953.1	11q12	2012-01-17			2012-01-17			ENSG00000109991	ENSG00000109991	ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	8534	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600843	600843						9221902	9221902	Standard	Standard	NM_002559	NM_002559		Approved	P2X3	uc001nju.3	uc001nju.3	P56373	P56373	OTTHUMG00000167025	OTTHUMG00000167025	ENST00000263314.2:c.768C>A	11.37:g.57118298C>A	ENSP00000263314:p.Cys256*			p.C256*	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN			8	802	+			256		Q6DK37|Q9UQB6	Nonsense_Mutation	SNP	ENST00000263314.2	37	c.768C>A	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893386	0.91889	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	.	.	.	5.73	4.82	0.62117	5.73	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.9567	11.758	0.51886	0.0:0.9176:0.0:0.0824	.	.	.	.	X	256	.	ENSP00000263314:C256X	C	+	3	2	2	P2RX3	56874874	56874874	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.870000	0.28010	1.428000	0.47296	0.650000	0.86243	TGC		0.582	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1		2.402557	0	0	62	62	NM_002559		3	6.94412	6.94412	26	0.103448	1	0	0.115264	1	0.122468	3	26	0.103448	A	57118298	C	A	57118298	4	1	2	1	0	0	0	0	0	1	0	0	11341	718	25	5	798	5	P2RX3	11	57118298	Nonsense_Mutation	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		57118298	77888218	4	23											
TENC1	23371	broad.mit.edu	37	12	53449609	53449609	+	Silent	SNP	C	C	T			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr12:53449609C>T	ENST00000314250.6	+	10	1031	c.741C>T	c.(739-741)caC>caT	p.H247H	TENC1_ENST00000451358.1_Silent_p.H247H|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Silent_p.H123H|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000314276.3_Silent_p.H257H|TENC1_ENST00000549700.1_Silent_p.H247H|TENC1_ENST00000546602.1_Silent_p.H247H|TENC1_ENST00000552570.1_Silent_p.H247H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	247	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCTACATGCACTACAGCAAGA	0.597																																						ENST00000314250.6											0			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(739-741)caC>caT	tensin like C1 domain containing phosphatase (tensin 2)						195	183	187					12																	53449609		2203	4300	6503	SO:0001819	synonymous_variant	23371			intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53449609C>T	AF518729	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05		2013-02-14	2004-03-05			ENSG00000111077		ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	19737	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tensin 2"	"tensin 2"	607717	607717	"tensin like C1 domain-containing phosphatase"		"tensin like C1 domain-containing phosphatase"					Standard	Standard	NM_015319	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	uc001sbp.3	Q63HR2	Q63HR2	OTTHUMG00000169730	OTTHUMG00000169730	ENST00000314250.6:c.741C>T	12.37:g.53449609C>T			TENC1_ENST00000549700.1_Silent_p.H247H|TENC1_ENST00000314276.3_Silent_p.H257H|TENC1_ENST00000552570.1_Silent_p.H247H|TENC1_ENST00000379902.3_Silent_p.H123H|TENC1_ENST00000451358.1_Silent_p.H247H|TENC1_ENST00000546602.1_Silent_p.H247H	p.H247H	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			10	1031	+			247	Phosphatase tensin-type.	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	c.741C>T	CCDS8843.1																																																																																									0.597	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1		123.405672	3	3	181	181	NM_170754		42	125.352791	125.352791	74	0.362069	0	0	0	1	0	42	74	0.362069	T	53449609	C	T	53449609	2	4	2	1	0	0	0	0	0	0	0	1	15755	564	20	3		3	TENC1	12	53449609	Silent	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		53449609	80402286	5	24											
GGA2	23062	broad.mit.edu	37	16	23481415	23481415	+	Missense_Mutation	SNP	C	C	T			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr16:23481415C>T	ENST00000309859.4	-	15	1604	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	508	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGCCCAGGGGCTCCCGTCTGG	0.552																																						ENST00000309859.4											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(1522-1524)Gcc>Acc	golgi-associated, gamma adaptin ear containing, ARF binding protein 2						74	75	75					16																	23481415		2197	4300	6497	SO:0001583	missense	23062			intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23481415C>T	AF190863	AF190863	CCDS10611.1	CCDS10611.1	16p12	2010-02-12	2010-02-12		2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365	ENSG00000103365	ENSG00000103365				16064	16064	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606005	606005						10747088, 10749927	10747088, 10749927	Standard	Standard	NM_015044	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	uc002dlq.3	Q9UJY4	Q9UJY4	OTTHUMG00000096957	OTTHUMG00000096957	ENST00000309859.4:c.1522G>A	16.37:g.23481415C>T	ENSP00000311962:p.Ala508Thr		GGA2_ENST00000567468.1_Intron	p.A508T	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	15	1604	-			508	GAE.	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.1522G>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324671	0.60634	.	.	ENSG00000103365	ENST00000309859	T	0.29397	1.57	4.93	4.93	0.64822	4.93	4.93	0.64822	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.272836	0.35708	N	0.003039	T	0.28566	0.0707	L	0.29908	0.895	0.80722	D	1	P	0.42010	0.768	P	0.48627	0.584	T	0.01988	-1.1234	10	0.14252	T	0.57	-14.3517	11.8415	0.52357	0.0:0.823:0.177:0.0	.	508	Q9UJY4	GGA2_HUMAN	T	508	ENSP00000311962:A508T	ENSP00000311962:A508T	A	-	1	0	0	GGA2	23388916	23388916	0.991000	0.36638	0.871000	0.34182	0.833000	0.47200	2.508000	0.45450	2.418000	0.82041	0.561000	0.74099	GCC		0.552	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		38.004902	-25	-25	66	66			15	40.245485	40.245485	38	0.283019	0	0	0	1	0	15	38	0.283019	T	23481415	C	T	23481415	3	4	2	1	0	0	0	0	1	0	0	0	6353	797	28	2	331	2	GGA2	16	23481415	Missense_Mutation	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		23481415	66873338	6	25											
WDR16	146845	broad.mit.edu	37	17	9490111	9490111	+	Missense_Mutation	SNP	G	G	C			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr17:9490111G>C	ENST00000576499.1	+	3	377	c.363G>C	c.(361-363)atG>atC	p.M121I	WDR16_ENST00000352665.5_Missense_Mutation_p.D123H|WDR16_ENST00000396219.3_Missense_Mutation_p.D55H|WDR16_ENST00000299764.5_Missense_Mutation_p.D133H					WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTCCAAATGATTTGTACTT	0.388																																						ENST00000352665.5											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(367-369)Gat>Cat	WD repeat domain 16						77	77	77					17																	9490111		2203	4300	6503	SO:0001583	missense	146845				cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9490111G>C	AB065281	AB065281	CCDS11149.2, CCDS42262.1	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			2014-08-01			ENSG00000166596	ENSG00000166596	ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	"WD repeat domain containing"	16053	16053	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	"WD40-repeat protein upregulated in HCC"	609804	609804						15967112	15967112	Standard	Standard	NM_001080556	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	uc002gly.3	Q8N1V2	Q8N1V2	OTTHUMG00000150149	OTTHUMG00000150149	ENST00000576499.1:c.363G>C	17.37:g.9490111G>C	ENSP00000476293:p.Met121Ile		WDR16_ENST00000576499.1_Missense_Mutation_p.M121I|WDR16_ENST00000299764.5_Missense_Mutation_p.D133H|WDR16_ENST00000396219.3_Missense_Mutation_p.D55H	p.D123H	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			3	436	+			123			Missense_Mutation	SNP	ENST00000576499.1	37	c.367G>C		.	.	.	.	.	.	.	.	.	.	G	20.2	3.948229	0.73787	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;D;T	0.90385	0.93;-2.66;4.95	5.69	3.6	0.41247	5.69	3.6	0.41247	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.127271	0.64402	D	0.000001	D	0.95033	0.8392	M	0.90019	3.08	0.58432	D	0.999995	D;D;D	0.69078	0.994;0.989;0.997	D;P;D	0.69307	0.91;0.86;0.963	D	0.94116	0.7375	10	0.48119	T	0.1	-28.085	10.7048	0.45948	0.0743:0.0:0.7913:0.1344	.	133;55;123	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	H	123;55;133	ENSP00000339449:D123H;ENSP00000379521:D55H;ENSP00000299764:D133H	ENSP00000299764:D133H	D	+	1	0	0	WDR16	9430836	9430836	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.934000	0.63491	2.690000	0.91761	0.455000	0.32223	GAT		0.388	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000439850.2		133.520659	-12	-12	97	97	NM_145054		39	133.613706	133.613706	45	0.464286	0	0	0	1	0	39	45	0.464286	C	9490111	G	C	9490111	3	2	2	1	0	0	0	0	1	0	0	0	17273	1290	45	5	377	5	WDR16	17	9490111	Missense_Mutation	SNP	G	TCGA-V3-A9ZX-01A-11D-A39W-08		9490111	71705099	7	26											
C17orf80	55028	broad.mit.edu	37	17	71239111	71239111	+	Silent	SNP	C	C	G			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr17:71239111C>G	ENST00000535032.2	+	4	1811	c.1698C>G	c.(1696-1698)gtC>gtG	p.V566V	C17orf80_ENST00000577615.1_Silent_p.V530V|C17orf80_ENST00000582793.1_Silent_p.V35V|C17orf80_ENST00000255557.4_Silent_p.V530V|C17orf80_ENST00000359042.2_Silent_p.V566V|RP11-661C3.2_ENST00000579037.1_RNA|C17orf80_ENST00000426147.2_Silent_p.V566V|C17orf80_ENST00000268942.8_Silent_p.V530V			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	566						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GATACTTCGTCCTGTGTTGTA	0.468																																						ENST00000359042.2											0			kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(1696-1698)gtC>gtG	chromosome 17 open reading frame 80						181	134	150					17																	71239111		2203	4300	6503	SO:0001819	synonymous_variant	55028				integral to membrane		g.chr17:71239111C>G	AY163812	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219	ENSG00000141219	ENSG00000141219				29601	29601	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"	"sperm-expressed protein 1", "migration-inducing protein 3"								12477932	12477932	Standard	Standard	NM_017941	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	uc002jjl.4	Q9BSJ5	Q9BSJ5			ENST00000535032.2:c.1698C>G	17.37:g.71239111C>G			C17orf80_ENST00000255557.4_Silent_p.V530V|C17orf80_ENST00000577615.1_Silent_p.V530V|C17orf80_ENST00000535032.2_Silent_p.V566V|C17orf80_ENST00000582793.1_Silent_p.V35V|C17orf80_ENST00000268942.8_Silent_p.V530V|C17orf80_ENST00000426147.2_Silent_p.V566V	p.V566V	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		5	1892	+			566		A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.1698C>G	CCDS11694.1																																																																																									0.468	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1		40.699242	1	1	38	38	NM_017941		12	40.707927	40.707927	13	0.48	0	0	0	1	0	12	13	0.48	G	71239111	C	G	71239111	2	3	2	1	0	0	0	0	0	0	0	1	1885	842	30	5		5	C17orf80	17	71239111	Silent	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08	61749000	71239111	9956099	8	27											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		59.585746	-2	-2	79	79	NM_002067		20	59.947947	59.947947	29	0.408163	0	0	0	1	0	20	29	0.408163	T	3118942	A	T	3118942	3	4	2	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V3-A9ZX-01A-11D-A39W-08		3118942	56010041	9	28											
SULT6B1	391365	broad.mit.edu	37	2	37398631	37398631	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr2:37398631G>A	ENST00000535679.1	-	6	726	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SULT6B1_ENST00000260637.3_Missense_Mutation_p.R205C|SULT6B1_ENST00000379149.2_Missense_Mutation_p.R139C|SULT6B1_ENST00000407963.1_Missense_Mutation_p.R205C			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	243						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GACTTCGCACGCATGGCTTGG	0.483																																						ENST00000535679.1											0			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(727-729)Cgt>Tgt	sulfotransferase family, cytosolic, 6B, member 1						145	138	141					2																	37398631		2203	4300	6503	SO:0001583	missense	391365				cytoplasm	sulfotransferase activity	g.chr2:37398631G>A	AY289770, AY289774	AY289770, AY289774	CCDS33182.1	CCDS33182.1	2p22.2	2007-07-26			2007-07-26			ENSG00000138068	ENSG00000138068	ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	"Sulfotransferases, cytosolic"	33433	33433	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										14676822	14676822	Standard	Standard	XM_005264307	XM_005264307		Approved		uc002rpu.3	uc002rpu.3	Q6IMI4	Q6IMI4	OTTHUMG00000152160	OTTHUMG00000152160	ENST00000535679.1:c.727C>T	2.37:g.37398631G>A	ENSP00000444081:p.Arg243Cys		SULT6B1_ENST00000407963.1_Missense_Mutation_p.R205C|SULT6B1_ENST00000260637.3_Missense_Mutation_p.R205C|SULT6B1_ENST00000379149.2_Missense_Mutation_p.R139C	p.R243C			Q6IMI4	ST6B1_HUMAN			6	726	-		all_hematologic(82;0.248)	243		B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37	c.727C>T		.	.	.	.	.	.	.	.	.	.	G	13.71	2.319512	0.41096	.	.	ENSG00000138068	ENST00000535679;ENST00000379149;ENST00000260637;ENST00000407963	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	4.71	0.231	0.15377	4.71	0.231	0.15377	Sulfotransferase domain (1);	0.346678	0.27851	N	0.017600	D	0.86789	0.6017	M	0.73962	2.25	0.39269	D	0.964353	D	0.57571	0.98	P	0.49953	0.627	D	0.88133	0.2839	10	0.87932	D	0	.	13.4678	0.61266	0.0:0.0:0.2675:0.7325	.	243	Q6IMI4	ST6B1_HUMAN	C	243;139;205;205	ENSP00000444081:R243C;ENSP00000368444:R139C;ENSP00000260637:R205C;ENSP00000384950:R205C	ENSP00000260637:R205C	R	-	1	0	0	SULT6B1	37252135	37252135	0.139000	0.22563	0.857000	0.33713	0.230000	0.25150	0.294000	0.19047	0.181000	0.19994	-0.293000	0.09583	CGT		0.483	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding			-18.998931	14	14	130	130	NM_001032377		4	7.223372	7.223372	108	0.035714	0	0	0	1	0	4	108	0.035714	A	37398631	G	A	37398631	3	1	3	1	0	0	0	0	1	0	0	0	15381	1087	38	1	192	1	SULT6B1	2	37398631	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08		37398631	205800742	1	29											
HDLBP	3069	broad.mit.edu	37	2	242169044	242169044	+	Missense_Mutation	SNP	T	T	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr2:242169044T>C	ENST00000391975.1	-	28	4006	c.3779A>G	c.(3778-3780)aAg>aGg	p.K1260R	HDLBP_ENST00000310931.4_Missense_Mutation_p.K1260R|HDLBP_ENST00000427183.2_Missense_Mutation_p.K1227R|HDLBP_ENST00000391976.2_Missense_Mutation_p.K1260R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1260					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGGGAGGGTCTTGGGAGCCAC	0.557																																						ENST00000391975.1											0			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3778-3780)aAg>aGg	high density lipoprotein binding protein						99	101	100					2																	242169044		2203	4300	6503	SO:0001583	missense	3069			cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242169044T>C			CCDS2547.1, CCDS58760.1	CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677	ENSG00000115677	ENSG00000115677				4857	4857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142695	142695	"vigilin"	VGL	"vigilin"	VGL		1318310, 8390966	1318310, 8390966	Standard	Standard	NM_005336	NM_005336		Approved	HBP	uc002waz.3	uc002waz.3	Q00341	Q00341	OTTHUMG00000133391	OTTHUMG00000133391	ENST00000391975.1:c.3779A>G	2.37:g.242169044T>C	ENSP00000375836:p.Lys1260Arg		HDLBP_ENST00000427183.2_Missense_Mutation_p.K1227R|HDLBP_ENST00000391976.2_Missense_Mutation_p.K1260R|HDLBP_ENST00000310931.4_Missense_Mutation_p.K1260R	p.K1260R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	28	4006	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1260		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.3779A>G	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	T	9.248	1.040131	0.19669	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	T;T;T;T	0.19394	2.16;2.16;2.16;2.15	5.75	5.75	0.90469	5.75	5.75	0.90469	.	0.091629	0.85682	N	0.000000	T	0.18551	0.0445	L	0.40543	1.245	0.53688	D	0.999979	B;B	0.26635	0.155;0.007	B;B	0.24269	0.052;0.004	T	0.05632	-1.0873	10	0.13108	T	0.6	-43.8366	16.0671	0.80891	0.0:0.0:0.0:1.0	.	1227;1260	E7EM71;Q00341	.;VIGLN_HUMAN	R	1260;1260;1260;1227	ENSP00000375836:K1260R;ENSP00000375837:K1260R;ENSP00000312042:K1260R;ENSP00000399139:K1227R	ENSP00000312042:K1260R	K	-	2	0	0	HDLBP	241817717	241817717	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	6.151000	0.71806	2.192000	0.70111	0.460000	0.39030	AAG		0.557	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5		0.960431	-1	-1	50	50	NM_203346		4	9.693637	9.693637	45	0.081633	0	0	0	1	0	4	45	0.081633	C	242169044	T	C	242169044	3	2	3	1	0	0	0	0	1	0	0	0	7025	1609	56	4	31	4	HDLBP	2	242169044	Missense_Mutation	SNP	T	TCGA-V3-A9ZY-01A-11D-A39W-08	204770413	242169044	1030329	2	30											
FAT1	2195	broad.mit.edu	37	4	187542653	187542653	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr4:187542653G>A	ENST00000441802.2	-	10	5296	c.5087C>T	c.(5086-5088)tCa>tTa	p.S1696L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1696	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATACACCACTGATGATTGACT	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2											0			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5086-5088)tCa>tTa	FAT atypical cadherin 1						116	112	114					4																	187542653		1865	4116	5981	SO:0001583	missense	2195			actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542653G>A	X87241	X87241	CCDS47177.1	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	"Cadherins / Cadherin-related"	3595	3595	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cadherin-related family member 8"	"cadherin-related family member 8"	600976	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	8586420	Standard	Standard	XM_005262834	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	uc003izf.3	Q14517	Q14517	OTTHUMG00000160320	OTTHUMG00000160320	ENST00000441802.2:c.5087C>T	4.37:g.187542653G>A	ENSP00000406229:p.Ser1696Leu			p.S1696L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5296	-			1696	Cadherin 15.		Missense_Mutation	SNP	ENST00000441802.2	37	c.5087C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325464	0.81580	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02631	4.22	4.99	4.99	0.66335	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.33093	0.98	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.44651	-0.9314	10	0.30854	T	0.27	.	18.8314	0.92141	0.0:0.0:1.0:0.0	.	1696	Q14517	FAT1_HUMAN	L	1696;1698	ENSP00000406229:S1696L	ENSP00000260147:S1698L	S	-	2	0	0	FAT1	187779647	187779647	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.601000	0.98297	2.751000	0.94390	0.650000	0.86243	TCA		0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		-5.324288	-5	-5	79	79	NM_005245		3	6.453752	6.453752	53	0.053571	0	0	0	1	0	3	53	0.053571	A	187542653	G	A	187542653	3	1	3	1	0	0	0	0	1	0	0	0	5689	1294	45	3	8751	3	FAT1	4	187542653	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08		187542653	3611623	3	31											
PCDHGA2	56113	broad.mit.edu	37	5	140719342	140719342	+	Missense_Mutation	SNP	C	C	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr5:140719342C>A	ENST00000394576.2	+	1	804	c.804C>A	c.(802-804)gaC>gaA	p.D268E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	268	Cadherin 3. {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)	p.D268D(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCACTGACGCAGATGAGG	0.507																																						ENST00000394576.2											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(1)|breast(1)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(802-804)gaC>gaA							86	94	91					5																	140719342		2203	4300	6503	SO:0001583	missense	0						g.chr5:140719342C>A	AF152508	AF152508	CCDS47289.1	CCDS47289.1	5q31	2011-03-28			2011-03-28			ENSG00000081853	ENSG00000081853	ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8700	8700	other	protocadherin	other	protocadherin			606289	606289						10380929	10380929	Standard	Standard	NM_018915	NM_018915		Approved	PCDH-GAMMA-A2			Q9Y5H1	Q9Y5H1	OTTHUMG00000163679	OTTHUMG00000163679	ENST00000394576.2:c.804C>A	5.37:g.140719342C>A	ENSP00000378077:p.Asp268Glu		PCDHGA1_ENST00000517417.1_Intron	p.D268E	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	804	+					Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.804C>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535002	0.27475	.	.	ENSG00000081853	ENST00000394576	T	0.61392	0.11	5.17	-2.35	0.06684	5.17	-2.35	0.06684	Cadherin (5);Cadherin-like (1);	0.000000	0.43260	U	0.000585	D	0.84097	0.5397	H	0.99705	4.715	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.77429	-0.2591	10	0.87932	D	0	.	12.8677	0.57948	0.0:0.3663:0.0:0.6337	.	268;268	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	E	268	ENSP00000378077:D268E	ENSP00000378077:D268E	D	+	3	2	2	PCDHGA2	140699526	140699526	0.000000	0.05858	0.927000	0.36925	0.020000	0.10135	-2.278000	0.01159	-0.459000	0.07013	-0.218000	0.12543	GAC		0.507	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		144.572938	-5	-5	128	128	NM_018915		45	144.582367	144.582367	47	0.48913	1	0	1.41504e-22	1	1.47935e-22	45	47	0.48913	A	140719342	C	A	140719342	3	1	3	1	0	0	0	0	1	0	0	0	11554	535	19	5	806	5	PCDHGA2	5	140719342	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		140719342	40195918	4	32											
GRIA1	2890	broad.mit.edu	37	5	153174266	153174266	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr5:153174266G>A	ENST00000285900.5	+	14	2699	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.E717K|GRIA1_ENST00000518142.1_Missense_Mutation_p.E706K|GRIA1_ENST00000518783.1_Missense_Mutation_p.E796K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	786					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGACAAGGGCGAGTGCGGCAG	0.448																																						ENST00000285900.5											0			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2356-2358)Gag>Aag	glutamate receptor, ionotropic, AMPA 1						58	60	60					5																	153174266		2203	4300	6503	SO:0001583	missense	0			synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153174266G>A			CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			2012-08-29			ENSG00000155511	ENSG00000155511	ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	4571	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138248	138248		GLUR1		GLUR1		1652753, 1319477	1652753, 1319477	Standard	Standard	NM_000827	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	uc011dcy.2	P42261	P42261	OTTHUMG00000130148	OTTHUMG00000130148	ENST00000285900.5:c.2356G>A	5.37:g.153174266G>A	ENSP00000285900:p.Glu786Lys		GRIA1_ENST00000518783.1_Missense_Mutation_p.E796K|GRIA1_ENST00000518142.1_Missense_Mutation_p.E706K|GRIA1_ENST00000521843.2_Missense_Mutation_p.E717K|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron	p.E786K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2699	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	786		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2356G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206268	0.79127	.	.	ENSG00000155511	ENST00000285900;ENST00000518142;ENST00000521843;ENST00000544794;ENST00000518783	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.17	5.17	0.71159	5.17	5.17	0.71159	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	L	0.38733	1.17	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;P;P	0.83275	0.996;0.872;0.784	T	0.47736	-0.9094	10	0.45353	T	0.12	.	18.0139	0.89232	0.0:0.0:1.0:0.0	.	796;706;786	E7ESV8;B7Z3F6;P42261	.;.;GRIA1_HUMAN	K	786;706;719;717;796	ENSP00000285900:E786K;ENSP00000427920:E706K;ENSP00000427864:E719K;ENSP00000442108:E717K;ENSP00000428994:E796K	ENSP00000285900:E786K	E	+	1	0	0	GRIA1	153154459	153154459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.585000	0.98223	2.574000	0.86865	0.650000	0.86243	GAG		0.448	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		32.079818	-24	-24	32	32			11	32.427412	32.427412	18	0.37931	0	0	0	1	0	11	18	0.37931	A	153174266	G	A	153174266	3	1	3	1	0	0	0	0	1	0	0	0	6767	1059	37	1	2410	1	GRIA1	5	153174266	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08	12454924	153174266	27740994	5	33											
PRSS16	10279	broad.mit.edu	37	6	27222478	27222478	+	Missense_Mutation	SNP	C	C	G			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr6:27222478C>G	ENST00000230582.3	+	10	1172	c.1157C>G	c.(1156-1158)aCc>aGc	p.T386S	PRSS16_ENST00000421826.2_Missense_Mutation_p.T129S|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	386					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACAGATGTCACCTGTGAGAAT	0.512																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3											0			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1156-1158)aCc>aGc	protease, serine, 16 (thymus)						118	111	113					6																	27222478		2203	4300	6503	SO:0001583	missense	10279			protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222478C>G	AF052514	AF052514	CCDS4623.1	CCDS4623.1	6p21	2010-05-07			2010-05-07			ENSG00000112812	ENSG00000112812	ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	"Serine peptidases / Serine peptidases"	9480	9480	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607169	607169						10527559	10527559	Standard	Standard	NM_005865	NM_005865		Approved	TSSP	uc003nja.3	uc003nja.3	Q9NQE7	Q9NQE7	OTTHUMG00000016167	OTTHUMG00000016167	ENST00000230582.3:c.1157C>G	6.37:g.27222478C>G	ENSP00000230582:p.Thr386Ser		PRSS16_ENST00000421826.2_Missense_Mutation_p.T129S|PRSS16_ENST00000377456.2_Intron	p.T386S	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1172	+			386		O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1157C>G	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.031250|4.031250	0.75504|0.75504	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000485993;ENST00000475106|ENST00000421826;ENST00000230582	.|T;T	.|0.16073	.|2.37;2.37	4.68|4.68	4.68|4.68	0.58851|0.58851	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.287924	.|0.38326	.|N	.|0.001740	T|T	0.18130|0.18130	0.0435|0.0435	L|L	0.56340|0.56340	1.77|1.77	0.38406|0.38406	D|D	0.945797|0.945797	.|D;P	.|0.76494	.|0.999;0.95	.|P;P	.|0.61397	.|0.888;0.634	T|T	0.03268|0.03268	-1.1054|-1.1054	5|10	.|0.11794	.|T	.|0.64	-35.2509|-35.2509	13.307|13.307	0.60357|0.60357	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|129;386	.|F2Z2N5;Q9NQE7	.|.;TSSP_HUMAN	Q|S	138;164|129;386	.|ENSP00000404349:T129S;ENSP00000230582:T386S	.|ENSP00000230582:T386S	H|T	+|+	3|2	2|0	2|0	PRSS16|PRSS16	27330457|27330457	27330457|27330457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	3.527000|3.527000	0.53517|0.53517	2.607000|2.607000	0.88179|0.88179	0.557000|0.557000	0.71058|0.71058	CAC|ACC		0.512	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		87.448015	18	18	110	110			29	91.854307	91.854307	74	0.281553	0	0	0	1	0	29	74	0.281553	G	27222478	C	G	27222478	3	3	3	1	0	0	0	0	1	0	0	0	12616	507	18	5	1195	5	PRSS16	6	27222478	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		27222478	143892589	6	34											
COBL	23242	broad.mit.edu	37	7	51095952	51095952	+	Silent	SNP	T	T	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr7:51095952T>C	ENST00000265136.7	-	10	3006	c.2841A>G	c.(2839-2841)ggA>ggG	p.G947G	COBL_ENST00000395542.2_Silent_p.G1029G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	947					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TAGGAGGGGCTCCCACTGCCA	0.572																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2											0			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3085-3087)ggA>ggG	cordon-bleu WH2 repeat protein						71	66	67					7																	51095952		2203	4300	6503	SO:0001819	synonymous_variant	23242						g.chr7:51095952T>C	AB014533	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078	ENSG00000106078	ENSG00000106078				22199	22199	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610317	610317	"cordon-bleu homolog (mouse)"		"cordon-bleu homolog (mouse)"					Standard	Standard	NM_015198	NM_015198		Approved	KIAA0633	uc003tpr.4	uc003tpr.4	O75128	O75128	OTTHUMG00000155999	OTTHUMG00000155999	ENST00000265136.7:c.2841A>G	7.37:g.51095952T>C			COBL_ENST00000265136.7_Silent_p.G947G	p.G1029G			O75128	COBL_HUMAN			12	3271	-	Glioma(55;0.08)		947		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.3087A>G	CCDS34637.1																																																																																									0.572	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1		45.451620	-8	-8	45	45	NM_015198		14	45.459726	45.459726	13	0.518519	0	0	0	1	0	14	13	0.518519	C	51095952	T	C	51095952	2	2	3	1	0	0	0	0	0	0	0	1	3653	1538	54	4		4	COBL	7	51095952	Silent	SNP	T	TCGA-V3-A9ZY-01A-11D-A39W-08		51095952	108042711	7	35											
PRUNE2	158471	broad.mit.edu	37	9	79322557	79322557	+	Missense_Mutation	SNP	C	C	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr9:79322557C>A	ENST00000376718.3	-	8	4756	c.4633G>T	c.(4633-4635)Gca>Tca	p.A1545S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1186S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1545					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGACTTGATGCACTTGAATGA	0.448																																						ENST00000428286.1											0			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3556-3558)Gca>Tca	prune homolog 2 (Drosophila)						68	59	62					9																	79322557		1568	3582	5150	SO:0001583	missense	158471			apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322557C>A	BC019095	BC019095	CCDS47982.1	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	ENSG00000106772	ENSG00000106772				25209	25209	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"olfaxin"	"olfaxin"	610691	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	16288218	Standard	Standard	NM_015225	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	uc010mpk.3	Q8WUY3	Q8WUY3	OTTHUMG00000020047	OTTHUMG00000020047	ENST00000376718.3:c.4633G>T	9.37:g.79322557C>A	ENSP00000365908:p.Ala1545Ser		PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1545S	p.A1186S			Q8WUY3	PRUN2_HUMAN			8	4756	-			1545		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3556G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.563667|3.563667	0.65651|0.65651	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.55588|.	0.51;0.51|.	5.91|5.91	5.02|5.02	0.67125|0.67125	5.91|5.91	5.02|5.02	0.67125|0.67125	.|.	0.399646|.	0.21499|.	N|.	0.073550|.	T|T	0.69700|0.69700	0.3140|0.3140	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	P|.	0.48738|.	0.588|.	T|T	0.68977|0.68977	-0.5267|-0.5267	10|5	0.72032|.	D|.	0.01|.	-3.8885|-3.8885	13.3784|13.3784	0.60752|0.60752	0.0:0.9275:0.0:0.0725|0.0:0.9275:0.0:0.0725	.|.	1545|.	Q8WUY3|.	PRUN2_HUMAN|.	S|F	1545;1186;1544|866	ENSP00000365908:A1545S;ENSP00000397425:A1186S|.	ENSP00000365908:A1545S|.	A|C	-|-	1|2	0|0	0|0	PRUNE2|PRUNE2	78512377|78512377	78512377|78512377	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.732000|0.732000	0.41865|0.41865	0.967000|0.967000	0.29344|0.29344	1.512000|1.512000	0.48834|0.48834	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		3.807471	2	2	42	42	NM_138818		3	7.10587	7.10587	21	0.125	1	0	0.115264	1	0.115264	3	21	0.125	A	79322557	C	A	79322557	3	1	3	1	0	0	0	0	1	0	0	0	12641	710	25	5	4681	5	PRUNE2	9	79322557	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		79322557	61890874	8	36											
PTPRB	5787	broad.mit.edu	37	12	71016404	71016404	+	Silent	SNP	C	C	T	rs376545279		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr12:71016404C>T	ENST00000550358.1	-	3	499	c.474G>A	c.(472-474)tcG>tcA	p.S158S	PTPRB_ENST00000334414.6_Silent_p.S158S|PTPRB_ENST00000551525.1_Silent_p.S157S|PTPRB_ENST00000538174.2_5'UTR			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2. {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)			TGCTCCTCACCGAAACTTCTG	0.418																																						ENST00000334414.6											0			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						c.(472-474)tcG>tcA	protein tyrosine phosphatase, receptor type, B	C		1,3685		0,1,1842	31	33	32		474	-10.8	0	12		32	3,8169		0,3,4083	no	coding-synonymous	PTPRB	NM_001109754.2		0,4,5925	TT,TC,CC		0.0367,0.0271,0.0337		158/2216	71016404	4,11854	1843	4086	5929	SO:0001819	synonymous_variant	0			angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71016404C>T	X54131	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11			2013-02-11								"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	9665	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176882	176882		PTPB		PTPB		2169617	2169617	Standard	Standard	NM_001109754	NM_001109754		Approved		uc001swc.4	uc001swc.4	P23467	P23467	OTTHUMG00000169499	OTTHUMG00000169499	ENST00000550358.1:c.474G>A	12.37:g.71016404C>T			PTPRB_ENST00000551525.1_Silent_p.S157S|PTPRB_ENST00000550358.1_Silent_p.S158S|PTPRB_ENST00000538174.2_5'UTR	p.S158S	NM_001109754.2	NP_001103224.1	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)		3	518	-	Renal(347;0.236)		0	Fibronectin type-III 2.	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000550358.1	37	c.474G>A																																																																																										0.418	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1		16.976138	6	6	10	10			5	17.000342	17.000342	4	0.555556	0	0	0	1	0	5	4	0.555556	T	71016404	C	T	71016404	2	4	3	1	0	0	0	0	0	0	0	1	12796	639	23	1		1	PTPRB	12	71016404	Silent	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		71016404	62835491	9	37											
PDS5B	23047	broad.mit.edu	37	13	33226028	33226028	+	Missense_Mutation	SNP	G	G	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr13:33226028G>C	ENST00000315596.10	+	3	382	c.196G>C	c.(196-198)Gat>Cat	p.D66H		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	66					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCTTGCTTCAGATTTTTTTCT	0.373																																						ENST00000315596.10											0			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(196-198)Gat>Cat	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)						147	142	143					13																	33226028		1846	4098	5944	SO:0001583	missense	23047			cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33226028G>C	AB023196	AB023196	CCDS41878.1	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642	ENSG00000083642	ENSG00000083642				20418	20418	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605333	605333	"androgen-induced proliferation inhibitor"	APRIN	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	8812419, 10215036	Standard	Standard	NM_015032	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	uc010abf.3	Q9NTI5	Q9NTI5	OTTHUMG00000016704	OTTHUMG00000016704	ENST00000315596.10:c.196G>C	13.37:g.33226028G>C	ENSP00000313851:p.Asp66His			p.D66H	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	3	382	+		Lung SC(185;0.0367)	66		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.196G>C	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623932	0.87460	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.59	5.59	0.84812	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	L	0.41824	1.3	0.80722	D	1	D;D;D	0.69078	0.997;0.973;0.973	D;P;D	0.69654	0.965;0.807;0.919	T	0.66728	-0.5850	9	0.29301	T	0.29	-19.6766	19.961	0.97250	0.0:0.0:1.0:0.0	.	66;66;66	Q9NTI5;Q9NTI5-3;Q9NTI5-4	PDS5B_HUMAN;.;.	H	66	.	ENSP00000313851:D66H	D	+	1	0	0	PDS5B	32124028	32124028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.655000	0.98512	2.783000	0.95769	0.655000	0.94253	GAT		0.373	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3		165.368679	16	16	190	190	NM_015032		52	167.111695	167.111695	85	0.379562	0	0	0	1	0	52	85	0.379562	C	33226028	G	C	33226028	3	2	3	1	0	0	0	0	1	0	0	0	11692	942	33	5	202	5	PDS5B	13	33226028	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08		33226028	81943850	10	38											
KIAA1409	57578	broad.mit.edu	37	14	94089125	94089139	+	In_Frame_Del	DEL	AGAGAGAGTACCTCG	AGAGAGAGTACCTCG	-	rs373959318		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr14:94089125_94089139delAGAGAGAGTACCTCG	ENST00000393151.2	+	30	5546_5560	c.5546_5560delAGAGAGAGTACCTCG	c.(5545-5562)cagagagagtacctcgac>cac	p.1849_1854QREYLD>H	UNC79_ENST00000256339.4_In_Frame_Del_p.1672_1677QREYLD>H|UNC79_ENST00000553484.1_In_Frame_Del_p.1871_1876QREYLD>H|UNC79_ENST00000555664.1_In_Frame_Del_p.1849_1854QREYLD>H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1849					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1876N(1)|p.D1677N(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGTGCTATCCAGAGAGAGTACCTCGACATCTCCTT	0.46																																						ENST00000553484.1											2	Substitution - Missense(2)	large_intestine(2)	breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5611-5628)cagagagagtacctcgac>cac	unc-79 homolog (C. elegans)																																			SO:0001651	inframe_deletion	57578				integral to membrane		g.chr14:94089125_94089139delAGAGAGAGTACCTCG	AB037830	AB037830	CCDS9911.2	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958	ENSG00000133958	ENSG00000133958				19966	19966	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"KIAA1409"	KIAA1409	"KIAA1409"	KIAA1409		20714347, 21040849	20714347, 21040849	Standard	Standard	NM_020818	NM_020818		Approved		uc001ybs.1	uc001ybs.1	Q9P2D8	Q9P2D8	OTTHUMG00000029783	OTTHUMG00000029783	ENST00000393151.2:c.5546_5560delAGAGAGAGTACCTCG	14.37:g.94089125_94089139delAGAGAGAGTACCTCG	ENSP00000376858:p.Gln1849_Asp1854delinsHis		UNC79_ENST00000555664.1_In_Frame_Del_p.1849_1854QREYLD>H|UNC79_ENST00000256339.4_In_Frame_Del_p.1672_1677QREYLD>H|UNC79_ENST00000393151.2_In_Frame_Del_p.1849_1854QREYLD>H	p.1871_1876QREYLD>H			Q9P2D8	UNC79_HUMAN			31	5766_5780	+			1849		B5MDL6|Q6ZUT7	In_Frame_Del	DEL	ENST00000393151.2	37	c.5612_5626delAGAGAGAGTACCTCG																																																																																										0.46	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	.	.	-13	-13	45	45	XM_028395		8			23	0.26						8	23	0.26	-	94089139	AGAGAGAGTACCTCG	-	94089125	7	5	3	1	0	1	0	1	0	0	0	0	8230	188	7	0	5121	0	KIAA1409	14	94089125	In_Frame_Del	DEL	AGAGAGAGTACCTCG	TCGA-V3-A9ZY-01A-11D-A39W-08		94089125	13260415	11	39											
ZNF839	55778	ucsc.edu	37	14	102802138	102802138	+	Missense_Mutation	SNP	T	T	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr14:102802138T>C	ENST00000558850.1	+	5	1624	c.1274T>C	c.(1273-1275)cTg>cCg	p.L425P	ZNF839_ENST00000262236.5_Missense_Mutation_p.L425P|ZNF839_ENST00000442396.2_Missense_Mutation_p.L541P|ZNF839_ENST00000559185.1_Missense_Mutation_p.L425P	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	425							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTTCTGGTCTGTGTTCCCAG	0.398																																																	0																	87	81	83					14																	102802138		1841	4087	5928	SO:0001583	missense	55778							AK093342	AK093342	CCDS45164.1, CCDS58336.1	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976	ENSG00000022976	ENSG00000022976				20345	20345	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 14 open reading frame 131"	C14orf131	"chromosome 14 open reading frame 131"	C14orf131				Standard	Standard	NM_018335	NM_018335		Approved		uc010awk.2	uc010awk.2	A8K0R7	A8K0R7			ENST00000558850.1:c.1274T>C	14.37:g.102802138T>C	ENSP00000453363:p.Leu425Pro																	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37		CCDS58336.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157787	0.38119	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.19532	2.14;2.15	5.15	1.71	0.24356	5.15	1.71	0.24356	.	0.780131	0.11778	N	0.530467	T	0.10937	0.0267	N	0.16130	0.375	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.0;0.001;0.0	T	0.27054	-1.0085	10	0.45353	T	0.12	.	4.0925	0.09976	0.1593:0.3954:0.0:0.4453	.	541;425;304;425	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	P	541;425;93	ENSP00000399863:L541P;ENSP00000262236:L425P	ENSP00000262236:L425P	L	+	2	0	0	ZNF839	101871891	101871891	0.000000	0.05858	0.003000	0.11579	0.216000	0.24613	0.481000	0.22260	0.522000	0.28464	-0.508000	0.04489	CTG		0.398	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2			18	18	50	50	NM_018335		4			26							4	26		C	102802138	T	C	102802138	3	2	3	1	0	0	0	0	1	0	0	0	18185	1580	55	4	1640	4	ZNF839	14	102802138	Missense_Mutation	SNP	T	TCGA-V3-A9ZY-01A-11D-A39W-08	8713013	102802138	4547402	12	40											
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1											0			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA	Mediterranean fever						158	170	166					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210			inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	AF018080	CCDS10498.1, CCDS55981.1	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			2014-09-17			ENSG00000103313	ENSG00000103313	ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	"Tripartite motif containing / Tripartite motif containing"	6998	6998	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"pyrin"	"pyrin"	608107	608107		MEF		MEF		9288094	9288094	Standard	Standard	NM_000243	NM_000243		Approved	FMF, TRIM20	uc002cun.1	uc002cun.1	O15553	O15553	OTTHUMG00000129324	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T			MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633	B30.2/SPRY.	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																									0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1		-46.116794	-7	-7	227	227	NM_000243		5	7.722011	7.722011	208	0.023474	0	0	0	1	0	5	208	0.023474	T	3293588	C	T	3293588	2	4	3	1	0	0	0	0	0	0	0	1	9459	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		3293588	87061165	13	41											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		70.822005	-3	-3	78	78	NM_002067		23	71.079042	71.079042	31	0.425926	0	0	0	1	0	23	31	0.425926	T	3118942	A	T	3118942	3	4	3	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V3-A9ZY-01A-11D-A39W-08		3118942	56010041	14	42											
ZNF229	7772	broad.mit.edu	37	19	44933957	44933957	+	Silent	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:44933957G>A	ENST00000588931.1	-	6	1432	c.999C>T	c.(997-999)aaC>aaT	p.N333N	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Silent_p.N327N	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	333					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)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTATGTGCGTGTTCTGTCTGA	0.502																																						ENST00000291187.4											0			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(979-981)aaC>aaT	zinc finger protein 229						65	63	63					19																	44933957		1946	4155	6101	SO:0001819	synonymous_variant	7772			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933957G>A	AF192979	AF192979	CCDS42574.1, CCDS62706.1	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08			2013-01-08				ENSG00000278318		ENSG00000278318		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	13022	13022	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_006723372	XM_006723372		Approved		uc002oze.1	uc002oze.1	Q9UJW7	Q9UJW7			ENST00000588931.1:c.999C>T	19.37:g.44933957G>A			ZNF229_ENST00000588931.1_Silent_p.N333N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	p.N327N	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	1303	-		Prostate(69;0.0352)	333		B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.981C>T	CCDS42574.1																																																																																									0.502	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1		70.123836	-7	-7	51	51	NM_014518		23	70.206213	70.206213	19	0.547619	0	0	0	1	0	23	19	0.547619	A	44933957	G	A	44933957	2	1	3	1	0	0	0	0	0	0	0	1	17779	1368	48	3		3	ZNF229	19	44933957	Silent	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08	41815015	44933957	14195026	15	43											
LRRC4B	94030	broad.mit.edu	37	19	51021330	51021330	+	Missense_Mutation	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:51021330C>T	ENST00000599957.1	-	3	1837	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R547Q			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	547					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCGTGGGCCGCGAGGAGCG	0.687																																						ENST00000599957.1											0			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1639-1641)cGg>cAg	leucine rich repeat containing 4B						23	25	25					19																	51021330		2049	4187	6236	SO:0001583	missense	94030				cell junction|integral to membrane|presynaptic membrane		g.chr19:51021330C>T	BC032460	BC032460	CCDS42595.1	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	25042	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"netrin-G3 ligand"	"netrin-G3 ligand"			"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4	"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	11441184	Standard	Standard	NM_001080457	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	uc002pss.3	Q9NT99	Q9NT99			ENST00000599957.1:c.1640G>A	19.37:g.51021330C>T	ENSP00000471502:p.Arg547Gln		LRRC4B_ENST00000389201.3_Missense_Mutation_p.R547Q	p.R547Q			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1837	-		all_neural(266;0.131)	547		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1640G>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269678	0.80469	.	.	ENSG00000131409	ENST00000389201	T	0.60797	0.16	3.27	3.27	0.37495	3.27	3.27	0.37495	.	0.000000	0.64402	U	0.000010	T	0.55305	0.1912	L	0.46614	1.455	0.41152	D	0.986037	D	0.53885	0.963	P	0.48114	0.567	T	0.59568	-0.7430	10	0.46703	T	0.11	.	12.3875	0.55340	0.0:1.0:0.0:0.0	.	547	Q9NT99	LRC4B_HUMAN	Q	547	ENSP00000373853:R547Q	ENSP00000373853:R547Q	R	-	2	0	0	LRRC4B	55713142	55713142	0.326000	0.24669	1.000000	0.80357	0.894000	0.52154	4.449000	0.60034	1.823000	0.53134	0.462000	0.41574	CGG		0.687	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1		26.168968	-2	-2	19	19	NM_001080457		9	26.711439	26.711439	17	0.346154	0	0	0	1	0	9	17	0.346154	T	51021330	C	T	51021330	3	4	3	1	0	0	0	0	1	0	0	0	9007	652	23	1	505	1	LRRC4B	19	51021330	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08	6087373	51021330	8107653	16	44											
KIR3DL2	3812	broad.mit.edu	37	19	55363677	55363677	+	Missense_Mutation	SNP	C	C	T	rs376049512		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:55363677C>T	ENST00000326321.3	+	3	328	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R99C	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	99	Ig-like C2-type 1.				cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCGGGGTTCACGCCCACACTC	0.592																																						ENST00000326321.3											0			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(295-297)Cgc>Tgc	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2						65	59	61					19																	55363677		2162	4125	6287	SO:0001583	missense	3812			cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55363677C>T	L41270	L41270	CCDS12906.1, CCDS58677.1	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			2014-05-22			ENSG00000240403	ENSG00000240403	ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	6339	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604947	604947						7716543, 8662091	7716543, 8662091	Standard	Standard	NM_006737	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	uc002qho.4	P43630	P43630	OTTHUMG00000065935	OTTHUMG00000065935	ENST00000326321.3:c.295C>T	19.37:g.55363677C>T	ENSP00000325525:p.Arg99Cys		KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R99C	p.R99C	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	328	+			99	Ig-like C2-type 1.	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.295C>T	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	c	7.544	0.661200	0.14645	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.00753	5.74;5.74	1.62	-3.23	0.05109	1.62	-3.23	0.05109	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.044860	0.02291	U	0.070352	T	0.00724	0.0024	L	0.35854	1.095	0.09310	N	1	P;B	0.49090	0.919;0.006	B;B	0.35899	0.213;0.009	T	0.45175	-0.9279	10	0.72032	D	0.01	.	3.3555	0.07168	0.0:0.428:0.2244:0.3475	.	99;99	Q95366;P43630	.;KI3L2_HUMAN	C	99	ENSP00000325525:R99C;ENSP00000270442:R99C	ENSP00000270442:R99C	R	+	1	0	0	KIR3DL2	60055489	60055489	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.084000	0.01363	-1.094000	0.03054	0.184000	0.17185	CGC		0.592	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1		83.191360	15	15	83	83			28	83.360764	83.360764	35	0.444444	0	0	0	1	0	28	35	0.444444	T	55363677	C	T	55363677	3	4	3	1	0	0	0	0	1	0	0	0	8321	536	19	1	305	1	KIR3DL2	19	55363677	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08	4342347	55363677	3765306	17	45											
NLRP11	204801	broad.mit.edu	37	19	56307611	56307611	+	Missense_Mutation	SNP	A	A	G			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:56307611A>G	ENST00000589093.1	-	6	2270	c.2177T>C	c.(2176-2178)aTg>aCg	p.M726T	NLRP11_ENST00000592953.1_Missense_Mutation_p.M627T|NLRP11_ENST00000443188.1_Missense_Mutation_p.M726T|NLRP11_ENST00000360133.3_Missense_Mutation_p.M672T|NLRP11_ENST00000589824.2_Missense_Mutation_p.M672T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	726							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATCACATTTCATCAAGCTGTA	0.428																																						ENST00000443188.1											0			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2176-2178)aTg>aCg	NLR family, pyrin domain containing 11						78	75	76					19																	56307611		2203	4300	6503	SO:0001583	missense	204801					ATP binding	g.chr19:56307611A>G	AY095145	AY095145	CCDS12935.1, CCDS74458.1	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	"Nucleotide-binding domain and leucine rich repeat containing"	22945	22945	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	12563287, 12019269	Standard	Standard	NM_145007	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	uc010ygf.2	P59045	P59045			ENST00000589093.1:c.2177T>C	19.37:g.56307611A>G	ENSP00000466285:p.Met726Thr		NLRP11_ENST00000589093.1_Missense_Mutation_p.M726T|NLRP11_ENST00000360133.3_Missense_Mutation_p.M672T|NLRP11_ENST00000589824.2_Missense_Mutation_p.M672T|NLRP11_ENST00000592953.1_Missense_Mutation_p.M627T	p.M726T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	8	2887	-		Colorectal(82;0.0002)	726		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2177T>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	A	0.199	-1.046153	0.01997	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.11712	2.75;2.75	2.38	-2.16	0.07080	2.38	-2.16	0.07080	.	.	.	.	.	T	0.04497	0.0123	N	0.16790	0.44	0.09310	N	1	B;B	0.19073	0.033;0.019	B;B	0.24541	0.024;0.054	T	0.45352	-0.9267	9	0.13470	T	0.59	.	0.1628	0.00105	0.3169:0.2206:0.2466:0.216	.	726;672	P59045;P59045-2	NAL11_HUMAN;.	T	726;672	ENSP00000409898:M726T;ENSP00000353251:M672T	ENSP00000353251:M672T	M	-	2	0	0	NLRP11	60999423	60999423	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.003000	0.01463	-0.657000	0.05373	0.533000	0.62120	ATG		0.428	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1		105.972880	-11	-11	100	100	NM_145007		33	105.985635	105.985635	35	0.485294	0	0	0	1	0	33	35	0.485294	G	56307611	A	G	56307611	3	3	3	1	0	0	0	0	1	0	0	0	10473	217	8	4	944	4	NLRP11	19	56307611	Missense_Mutation	SNP	A	TCGA-V3-A9ZY-01A-11D-A39W-08	943934	56307611	2821372	18	46											
NFATC2	4773	broad.mit.edu	37	20	50140605	50140605	+	Missense_Mutation	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr20:50140605C>T	ENST00000396009.3	-	2	394	c.175G>A	c.(175-177)Gca>Aca	p.A59T	NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000371564.3_Missense_Mutation_p.A59T|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	59					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A59T(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCGGGGTATGCGGGTCCGGAG	0.592																																						ENST00000371564.3											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(175-177)Gca>Aca	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						49	57	54					20																	50140605		2203	4300	6503	SO:0001583	missense	4773			B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140605C>T	U43342, U43341	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			2009-11-24			ENSG00000101096	ENSG00000101096	ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	"Nuclear factor of activated T-cells"	7776	7776	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600490	600490						8202141	8202141	Standard	Standard	NM_012340	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	uc002xwd.4	Q13469	Q13469	OTTHUMG00000032747	OTTHUMG00000032747	ENST00000396009.3:c.175G>A	20.37:g.50140605C>T	ENSP00000379330:p.Ala59Thr		NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T|NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000610033.1_Intron	p.A59T	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	394	-	Hepatocellular(150;0.248)		59		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.175G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883442	0.33255	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.14893	2.47;2.47;2.48	5.31	0.654	0.17833	5.31	0.654	0.17833	.	1.029610	0.07687	N	0.938074	T	0.10165	0.0249	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17268	0.016;0.016;0.016;0.021	B;B;B;B	0.09377	0.003;0.002;0.004;0.003	T	0.39522	-0.9610	10	0.23302	T	0.38	-0.1472	5.0295	0.14402	0.1161:0.4371:0.3411:0.1057	.	39;39;59;59	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	T	59;59;39	ENSP00000360619:A59T;ENSP00000379330:A59T;ENSP00000396471:A39T	ENSP00000360619:A59T	A	-	1	0	0	NFATC2	49574012	49574012	0.772000	0.28567	0.980000	0.43619	0.986000	0.74619	-0.193000	0.09573	0.184000	0.20083	0.313000	0.20887	GCA		0.592	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		-2.910972	2	2	67	67	NM_012340		3	6.932369	6.932369	46	0.061224	0	0	0	1	0	3	46	0.061224	T	50140605	C	T	50140605	3	4	3	1	0	0	0	0	1	0	0	0	10362	768	27	1	2686	1	NFATC2	20	50140605	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		50140605	12884915	19	47											
CHCHD10	400916	broad.mit.edu	37	22	24108202	24108202	+	Silent	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr22:24108202G>A	ENST00000484558.2	-	4	989	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	CHCHD10_ENST00000401675.3_Silent_p.L148L|CHCHD10_ENST00000520222.1_3'UTR			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	141					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3						CTTCAGGGCAGGGAGCTCAGA	0.657																																						ENST00000484558.2											0			large_intestine(2)|lung(1)	3						c.(421-423)Ctg>Ttg	coiled-coil-helix-coiled-coil-helix domain containing 10						33	31	32					22																	24108202		2203	4300	6503	SO:0001819	synonymous_variant	400916				mitochondrion		g.chr22:24108202G>A	AB050774	AB050774	CCDS13815.1	CCDS13815.1	22q11.23	2011-03-28	2008-06-13	2008-06-13	2011-03-28	2008-06-13	2008-06-13	ENSG00000250479	ENSG00000250479	ENSG00000250479	ENSG00000250479		"Coiled-coil-helix-coiled-coil-helix domain containing"	"Coiled-coil-helix-coiled-coil-helix domain containing"	15559	15559	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615903	615903	"chromosome 22 open reading frame 16"	C22orf16	"chromosome 22 open reading frame 16"	C22orf16				Standard	Standard	XM_006724241	XM_006724241		Approved	N27C7-4	uc002zxw.3	uc002zxw.3	Q8WYQ3	Q8WYQ3	OTTHUMG00000150736	OTTHUMG00000150736	ENST00000484558.2:c.421C>T	22.37:g.24108202G>A			CHCHD10_ENST00000401675.3_Silent_p.L148L|CHCHD10_ENST00000520222.1_3'UTR	p.L141L			Q8WYQ3	CHC10_HUMAN			4	989	-			141		A8K0J5	Silent	SNP	ENST00000484558.2	37	c.421C>T	CCDS13815.1	.	.	.	.	.	.	.	.	.	.	G	9.291	1.050523	0.19827	.	.	ENSG00000250479	ENST00000521886	.	.	.	4.4	4.4	0.53042	4.4	4.4	0.53042	.	.	.	.	.	T	0.64549	0.2608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63051	-0.6723	4	.	.	.	-18.9032	13.2546	0.60070	0.0:0.0:1.0:0.0	.	.	.	.	L	89	.	.	P	-	2	0	0	CHCHD10	22438202	22438202	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	1.565000	0.36386	2.400000	0.81607	0.485000	0.47835	CCT		0.657	CHCHD10-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319870.2		2.301463	-3	-3	22	22	NM_213720		3	7.097725	7.097725	27	0.1	0	0	0	1	0	3	27	0.1	A	24108202	G	A	24108202	2	1	3	1	0	0	0	0	0	0	0	1	3315	991	35	3		3	CHCHD10	22	24108202	Silent	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08		24108202	27196364	20	48											
EIF1AX	1964	broad.mit.edu	37	X	20152122	20152122	+	Missense_Mutation	SNP	A	A	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chrX:20152122A>T	ENST00000379607.5	-	4	411	c.208T>A	c.(208-210)Tgg>Agg	p.W70R	EIF1AX_ENST00000379593.1_Missense_Mutation_p.W42R|snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	70	S1-like.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GTATTTATCCAAACCTACAAA	0.323																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(208-210)Tgg>Agg	eukaryotic translation initiation factor 1A, X-linked						55	47	49					X																	20152122		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20152122A>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.208T>A	X.37:g.20152122A>T	ENSP00000368927:p.Trp70Arg		EIF1AX_ENST00000379593.1_Missense_Mutation_p.W42R	p.W70R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			4	411	-			70	S1-like.	B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.208T>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303181	0.81136	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	T;T	0.52057	0.68;0.68	5.64	5.64	0.86602	5.64	5.64	0.86602	Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1, IF1 type (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.76442	0.3988	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.83363	0.0003	9	0.87932	D	0	-3.1686	13.4291	0.61044	1.0:0.0:0.0:0.0	.	70	P47813	IF1AX_HUMAN	R	70;42	ENSP00000368927:W70R;ENSP00000368912:W42R	ENSP00000368912:W42R	W	-	1	0	0	EIF1AX	20062043	20062043	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.481000	0.90437	1.888000	0.54679	0.486000	0.48141	TGG		0.323	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		143.627102	-58	-58	68	68			41	151.294154	151.294154	4	0.911111	0	0	0	1	0	41	4	0.911111	T	20152122	A	T	20152122	3	4	3	1	0	0	0	0	1	0	0	0	4992	130	5	5	242	5	EIF1AX	23	20152122	Missense_Mutation	SNP	A	TCGA-V3-A9ZY-01A-11D-A39W-08		20152122	135118438	21	49											
GALE	11313	ucsc.edu	37	1	24123572	24123572	+	IGR	SNP	A	A	G			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr1:24123572A>G	ENST00000374514.3	+	0	1810				GALE_ENST00000374497.3_Silent_p.G198G|GALE_ENST00000470383.1_5'Flank	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GGGGATCCTCACCAATGCAGC	0.587																																																	0																	78	65	69					1																	24123572		2203	4300	6503	SO:0001628	intergenic_variant	2582							AF098668	BC050685	CCDS241.1	CCDS242.1	1p36.11	2008-08-08			2012-10-02	2004-11-17		ENSG00000011009	ENSG00000011009	ENSG00000117308	ENSG00000117308	3.1.1.5		"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	6738	4116	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product		"short chain dehydrogenase/reductase family 1E, member 1", "UDP-glucose 4-epimerase"		606953			"galactose-4-epimerase, UDP-"				8593531, 19027726	Standard	Standard	NM_007260	NM_001127621		Approved	APT-2	uc001bht.3	uc009vqo.1	O95372	Q14376	OTTHUMG00000002961	OTTHUMG00000002958		1.37:g.24123572A>G																		Q7Z4Z2	Silent	SNP	ENST00000374514.3	37		CCDS241.1																																																																																									0.587	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			0	0	16	16			4			15							4	15		G	24123572	A	G	24123572	1	3	4	0	1	0	0	0	0	0	0	0	6202	146	6	4		4	GALE	1	24123572	IGR	SNP	A	TCGA-V4-A9E5-01A-11D-A39W-08		24123572	225127049	1	50											
FCGR2A	2212	broad.mit.edu	37	1	161487879	161487879	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr1:161487879G>T	ENST00000271450.6	+	7	933	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.D298Y|FCGR2A_ENST00000486608.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	299					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D298N(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCTACTGACGATGATAAAAA	0.443																																						ENST00000271450.6											1	Substitution - Missense(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(895-897)Gat>Tat	Fc fragment of IgG, low affinity IIa, receptor (CD32)						70	70	70					1																	161487879		2202	4293	6495	SO:0001583	missense	2212				integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487879G>T	J03619	J03619	CCDS30922.1, CCDS44264.1	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226	ENSG00000143226	ENSG00000143226		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3616	3616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Immunoglobulin G Fc receptor II"	"Immunoglobulin G Fc receptor II"	146790	146790	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2	"Fc fragment of IgG, low affinity IIa, receptor for (CD32)"	FCG2, FCGR2A1, FCGR2		2139735	2139735	Standard	Standard	NM_021642	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	uc001gan.3	P12318	P12318	OTTHUMG00000034469	OTTHUMG00000034469	ENST00000271450.6:c.895G>T	1.37:g.161487879G>T	ENSP00000271450:p.Asp299Tyr		FCGR2A_ENST00000367972.4_Missense_Mutation_p.D298Y|FCGR2A_ENST00000486608.1_3'UTR|RP11-25K21.6_ENST00000537821.2_RNA	p.D299Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	933	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		299		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.895G>T	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	8.527	0.870108	0.17322	.	.	ENSG00000143226	ENST00000367972;ENST00000271450;ENST00000537821;ENST00000461298	T;T	0.02682	4.2;4.2	0.565	-0.483	0.12075	0.565	-0.483	0.12075	.	5.152060	0.01233	U	0.008401	T	0.01800	0.0057	N	0.08118	0	0.25218	N	0.989926	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.44112	-0.9349	8	0.66056	D	0.02	.	.	.	.	.	299;298	P12318;P12318-2	FCG2A_HUMAN;.	Y	298;299;34;34	ENSP00000356949:D298Y;ENSP00000271450:D299Y	ENSP00000271450:D299Y	D	+	1	0	0	FCGR2A	159754503	159754503	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.132000	0.10467	-0.258000	0.09446	-0.251000	0.11542	GAT		0.443	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3		47.594395	-41	-41	46	46	NM_021642		16	48.530766	48.530766	30	0.347826	1	0	5.61819e-17	1	5.61819e-17	16	30	0.347826	T	161487879	G	T	161487879	3	4	4	1	0	0	0	0	1	0	0	0	5781	1058	37	5	921	5	FCGR2A	1	161487879	Missense_Mutation	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	137364307	161487879	87762742	2	51											
SF3B1	23451	broad.mit.edu	37	2	198267360	198267360	+	Missense_Mutation	SNP	T	T	G	rs374250186		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr2:198267360T>G	ENST00000335508.6	-	14	2088	c.1997A>C	c.(1996-1998)aAg>aCg	p.K666T	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	666					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K666R(7)|p.K666T(6)|p.K666M(6)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGTACAATCTTAATACCAGT	0.413			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	19	Substitution - Missense(19)	haematopoietic_and_lymphoid_tissue(18)|NS(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1996-1998)aAg>aCg	splicing factor 3b, subunit 1, 155kDa						116	116	116					2																	198267360		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267360T>G	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1997A>C	2.37:g.198267360T>G	ENSP00000335321:p.Lys666Thr			p.K666T	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2088	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1997A>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736206	0.89482	.	.	ENSG00000115524	ENST00000335508	T	0.65549	-0.16	5.68	5.68	0.88126	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89754	0.3942	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	666	O75533	SF3B1_HUMAN	T	666	ENSP00000335321:K666T	ENSP00000335321:K666T	K	-	2	0	0	SF3B1	197975605	197975605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	AAG		0.413	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		91.199480	-9	-9	60	60			28	91.19948	91.19948	28	0.5	0	0	0	1	0	28	28	0.5	G	198267360	T	G	198267360	3	3	4	1	0	0	0	0	1	0	0	0	14149	1609	56	5	1965	5	SF3B1	2	198267360	Missense_Mutation	SNP	T	TCGA-V4-A9E5-01A-11D-A39W-08		198267360	44932013	3	52											
LRRC66	339977	broad.mit.edu	37	4	52861873	52861873	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr4:52861873C>G	ENST00000343457.3	-	4	1321	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	439						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGATGGGTCTCTGGGTGTGGT	0.547																																						ENST00000343457.3											0			central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1315-1317)Gag>Cag	leucine rich repeat containing 66						108	115	113					4																	52861873		2055	4191	6246	SO:0001583	missense	339977				integral to membrane		g.chr4:52861873C>G	BC040414	BC040414	CCDS43229.1	CCDS43229.1	4q12	2008-08-08			2008-08-08			ENSG00000188993	ENSG00000188993	ENSG00000188993	ENSG00000188993				34299	34299	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_005265739	XM_005265739		Approved		uc003gzi.3	uc003gzi.3	Q68CR7	Q68CR7	OTTHUMG00000160623	OTTHUMG00000160623	ENST00000343457.3:c.1315G>C	4.37:g.52861873C>G	ENSP00000341944:p.Glu439Gln			p.E439Q	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1321	-			439			Missense_Mutation	SNP	ENST00000343457.3	37	c.1315G>C	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	6.511	0.462436	0.12342	.	.	ENSG00000188993	ENST00000343457	T	0.41758	0.99	4.5	-4.04	0.04010	4.5	-4.04	0.04010	.	1.367370	0.04698	N	0.415285	T	0.22085	0.0532	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.21708	0.036	T	0.31530	-0.9940	10	0.51188	T	0.08	-0.1784	7.5302	0.27679	0.1576:0.5978:0.0:0.2446	.	439	Q68CR7	LRC66_HUMAN	Q	439	ENSP00000341944:E439Q	ENSP00000341944:E439Q	E	-	1	0	0	LRRC66	52556630	52556630	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.180000	0.03088	-0.311000	0.08754	-0.474000	0.04947	GAG		0.547	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		125.899902	3	3	132	132	NM_001024611		42	130.75549	130.75549	97	0.302158	0	0	0	1	0	42	97	0.302158	G	52861873	C	G	52861873	3	3	4	1	0	0	0	0	1	0	0	0	9018	922	32	5	1331	5	LRRC66	4	52861873	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		52861873	138292403	4	53											
FAT4	79633	broad.mit.edu	37	4	126373735	126373735	+	Missense_Mutation	SNP	C	C	T	rs536513777		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr4:126373735C>T	ENST00000394329.3	+	9	11577	c.11564C>T	c.(11563-11565)gCg>gTg	p.A3855V	FAT4_ENST00000335110.5_Missense_Mutation_p.A2153V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3855	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3855V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGGATATGCGGGTAGCTGG	0.473													C|||	1	0.000199681	0	0	5008	,	,		20817	0.001		0	False		,,,				2504	0					ENST00000394329.3											2	Substitution - Missense(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11563-11565)gCg>gTg	FAT atypical cadherin 4						89	89	89					4																	126373735		2203	4300	6503	SO:0001583	missense	79633			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373735C>T	AY356402	AY356402	CCDS3732.3	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	"Cadherins / Cadherin-related"	23109	23109	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cadherin-related family member 11"	"cadherin-related family member 11"	612411	612411	"FAT tumor suppressor homolog 4 (Drosophila)"		"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	15003449	Standard	Standard	NM_024582	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	uc003ifj.4	Q6V0I7	Q6V0I7	OTTHUMG00000133100	OTTHUMG00000133100	ENST00000394329.3:c.11564C>T	4.37:g.126373735C>T	ENSP00000377862:p.Ala3855Val		FAT4_ENST00000335110.5_Missense_Mutation_p.A2153V	p.A3855V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	11577	+			3855	EGF-like 1.	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11564C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563763	0.27915	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.91792	-2.91;-2.39	5.41	5.41	0.78517	5.41	5.41	0.78517	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.627735	0.12030	U	0.506062	T	0.82056	0.4954	N	0.11023	0.085	0.09310	N	1	P;P;P	0.37997	0.516;0.614;0.516	B;B;B	0.28139	0.086;0.038;0.086	T	0.73701	-0.3900	10	0.37606	T	0.19	.	12.3484	0.55134	0.285:0.715:0.0:0.0	.	2153;3855;3855	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3855;2153	ENSP00000377862:A3855V;ENSP00000335169:A2153V	ENSP00000335169:A2153V	A	+	2	0	0	FAT4	126593185	126593185	0.206000	0.23470	0.011000	0.14972	0.505000	0.33919	3.842000	0.55858	2.527000	0.85204	0.561000	0.74099	GCG		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		29.504346	2	2	42	42	NM_024582		11	32.180581	32.180581	34	0.244444	0	0	0	1	0	11	34	0.244444	T	126373735	C	T	126373735	3	4	4	1	0	0	0	0	1	0	0	0	5692	768	27	1	11598	1	FAT4	4	126373735	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08	73511862	126373735	64780541	5	54											
SNX18	112574	broad.mit.edu	37	5	53839202	53839202	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr5:53839202A>G	ENST00000381410.4	+	2	2005	c.1815A>G	c.(1813-1815)atA>atG	p.I605M	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	458	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AACAAATAATATTTTTCCAAA	0.348																																						ENST00000381410.4											0			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1813-1815)atA>atG	sorting nexin 18						60	58	59					5																	53839202		1826	4084	5910	SO:0001583	missense	112574			cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53839202A>G	AF395536	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996	ENSG00000178996	ENSG00000178996		"Sorting nexins"	"Sorting nexins"	19245	19245	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"sorting nexin associated golgi protein 1"	SNAG1	"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	16782399, 17761170	Standard	Standard	NM_052870	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	uc003jpi.4	Q96RF0	Q96RF0	OTTHUMG00000096994	OTTHUMG00000096994	ENST00000381410.4:c.1815A>G	5.37:g.53839202A>G	ENSP00000370817:p.Ile605Met		SNX18_ENST00000343017.6_3'UTR	p.I605M	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN			2	2005	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	458	BAR.	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000381410.4	37	c.1815A>G	CCDS43317.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455669	0.26161	.	.	ENSG00000178996	ENST00000381410	T	0.13778	2.56	5.71	4.54	0.55810	5.71	4.54	0.55810	.	.	.	.	.	T	0.12433	0.0302	.	.	.	0.80722	D	1	B	0.32693	0.38	B	0.35550	0.205	T	0.08472	-1.0720	8	0.48119	T	0.1	.	6.1392	0.20251	0.5818:0.1552:0.0:0.263	.	605	Q96RF0-2	.	M	605	ENSP00000370817:I605M	ENSP00000370817:I605M	I	+	3	3	3	SNX18	53874959	53874959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.763000	0.38461	0.963000	0.38082	0.528000	0.53228	ATA		0.348	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214073.2		22.548956	-10	-10	78	78			9	26.519998	26.519998	37	0.195652	0	0	0	1	0	9	37	0.195652	G	53839202	A	G	53839202	3	3	4	1	0	0	0	0	1	0	0	0	14889	439	16	4	2087	4	SNX18	5	53839202	Missense_Mutation	SNP	A	TCGA-V4-A9E5-01A-11D-A39W-08		53839202	127076058	6	55											
TFAP2B	7021	broad.mit.edu	37	6	50805696	50805696	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr6:50805696C>T	ENST00000393655.3	+	5	999	c.830C>T	c.(829-831)tCg>tTg	p.S277L	TFAP2B_ENST00000263046.4_Missense_Mutation_p.S286L	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	277					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGAGCCAAATCGAAAAATGGG	0.428																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4											0			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(856-858)tCg>tTg	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)						83	94	90					6																	50805696		2203	4300	6503	SO:0001583	missense	7021			nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50805696C>T	X95694	X95694	CCDS4934.2	CCDS4934.2	6p12	2008-02-05	2001-11-28		2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196	ENSG00000008196	ENSG00000008196				11743	11743	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601601	601601	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"		"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"			7555706, 8661133	7555706, 8661133	Standard	Standard	NM_003221	NM_003221		Approved	AP2-B	uc003pag.3	uc003pag.3	Q92481	Q92481	OTTHUMG00000014836	OTTHUMG00000014836	ENST00000393655.3:c.830C>T	6.37:g.50805696C>T	ENSP00000377265:p.Ser277Leu		TFAP2B_ENST00000393655.3_Missense_Mutation_p.S277L	p.S286L			Q92481	AP2B_HUMAN			6	1023	+	Lung NSC(77;0.156)		277		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.857C>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	34	5.315280	0.95655	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97041	-4.22;-4.22	5.63	5.63	0.86233	5.63	5.63	0.86233	Transcription factor AP-2, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	M	0.88842	2.985	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.99338	1.0911	10	0.87932	D	0	-11.5258	20.0471	0.97613	0.0:1.0:0.0:0.0	.	277	Q92481	AP2B_HUMAN	L	277;286	ENSP00000377265:S277L;ENSP00000263046:S286L	ENSP00000263046:S286L	S	+	2	0	0	TFAP2B	50913655	50913655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.815000	0.96918	0.561000	0.74099	TCG		0.428	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3		5.233562	-44	-44	86	86	NM_003221		11	24.883518	24.883518	107	0.09322	0	0	0	1	0	11	107	0.09322	T	50805696	C	T	50805696	3	4	4	1	0	0	0	0	1	0	0	0	15785	893	31	1	848	1	TFAP2B	6	50805696	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		50805696	120309371	7	56											
DLL1	28514	broad.mit.edu	37	6	170594480	170594480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr6:170594480G>T	ENST00000366756.3	-	7	1227	c.894C>A	c.(892-894)tgC>tgA	p.C298*		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	298	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTCCATTCTTGCAGGGCTTAT	0.547																																						ENST00000366756.3											0			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(892-894)tgC>tgA	delta-like 1 (Drosophila)						149	127	134					6																	170594480		2203	4300	6503	SO:0001587	stop_gained	28514			cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594480G>T	AF003522	AF003522	CCDS5313.1	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719	ENSG00000198719	ENSG00000198719				2908	2908	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606582	606582	"delta (Drosophila)-like 1"		"delta (Drosophila)-like 1"					Standard	Standard	NM_005618	NM_005618		Approved		uc003qxm.3	uc003qxm.3	O00548	O00548	OTTHUMG00000016078	OTTHUMG00000016078	ENST00000366756.3:c.894C>A	6.37:g.170594480G>T	ENSP00000355718:p.Cys298*			p.C298*	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	7	1227	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	298	EGF-like 3.	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Nonsense_Mutation	SNP	ENST00000366756.3	37	c.894C>A	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	39	7.640945	0.98406	.	.	ENSG00000198719	ENST00000366756	.	.	.	5.08	1.65	0.23941	5.08	1.65	0.23941	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2723	0.43489	0.2274:0.0:0.7726:0.0	.	.	.	.	X	298	.	ENSP00000355718:C298X	C	-	3	2	2	DLL1	170436405	170436405	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	2.293000	0.43558	0.100000	0.17581	-0.471000	0.05019	TGC		0.547	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		94.409052	-6	-6	51	51			29	95.545806	95.545806	14	0.674419	1	0	1.88708e-17	1	1.97286e-17	29	14	0.674419	T	170594480	G	T	170594480	4	4	4	1	0	0	0	0	0	1	0	0	4566	1311	46	5	1297	5	DLL1	6	170594480	Nonsense_Mutation	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	119788784	170594480	520587	8	57											
ZAN	7455	broad.mit.edu	37	7	100345181	100345181	+	RNA	SNP	C	C	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr7:100345181C>T	ENST00000348028.3	+	0	1105				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGGAGTATCCGGAAACACAC	0.517																																						ENST00000542585.1											0			NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139							zonadhesin (gene/pseudogene)						105	99	101					7																	100345181		1971	4137	6108			7455			binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345181C>T	U83191	U83191			7q22.1	2013-10-10	2013-10-10		2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839	ENSG00000146839	ENSG00000146839				12857	12857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602372	602372	"zonadhesin"		"zonadhesin"			9799793, 17033959	9799793, 17033959	Standard	Standard	NM_003386	NM_003386		Approved		uc003uwk.3	uc003uwk.3	Q9Y493	Q9Y493	OTTHUMG00000157037	OTTHUMG00000157037		7.37:g.100345181C>T			ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1088	+	Lung NSC(181;0.041)|all_lung(186;0.0581)				A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	14.71	2.616430	0.46736	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02236	4.38;4.38;4.38	4.19	2.37	0.29283	4.19	2.37	0.29283	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.631401	0.13198	N	0.406231	T	0.03783	0.0107	M	0.79475	2.455	0.80722	D	1	P;P	0.38729	0.591;0.644	B;B	0.35931	0.136;0.214	T	0.39251	-0.9623	10	0.87932	D	0	.	5.1566	0.15038	0.2039:0.691:0.0:0.1051	.	314;314	F5H0T8;Q9Y493	.;ZAN_HUMAN	W	314	ENSP00000445943:R314W;ENSP00000445091:R314W;ENSP00000444427:R314W	ENSP00000423579:R314W	R	+	1	2	2	ZAN	100183117	100183117	1.000000	0.71417	0.998000	0.56505	0.437000	0.31866	1.130000	0.31393	0.696000	0.31696	0.650000	0.86243	CGG		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		46.517687	-5	-5	67	67	NM_003386		15	46.97224	46.97224	24	0.384615	0	0	0	1	0	15	24	0.384615	T	100345181	C	T	100345181	1	4	4	0	1	0	0	0	0	0	0	0	17510	643	23	1		1	ZAN	7	100345181	RNA	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		100345181	58793482	9	58											
UBR5	51366	broad.mit.edu	37	8	103289313	103289313	+	Silent	SNP	A	A	G			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr8:103289313A>G	ENST00000520539.1	-	45	7002	c.6396T>C	c.(6394-6396)acT>acC	p.T2132T	UBR5_ENST00000220959.4_Silent_p.T2132T|UBR5_ENST00000521922.1_Silent_p.T2126T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2132					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGAACTCTCAGTTTCTTCTG	0.423																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1											0			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6394-6396)acT>acC	ubiquitin protein ligase E3 component n-recognin 5						186	170	175					8																	103289313		2203	4300	6503	SO:0001819	synonymous_variant	51366			cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103289313A>G	AF006010	AF006010	CCDS34933.1, CCDS64946.1	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	"Ubiquitin protein ligase E3 component n-recognins"	16806	16806	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608413	608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	10030672, 16055722	Standard	Standard	NM_015902	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	uc003ykr.2	O95071	O95071	OTTHUMG00000164755	OTTHUMG00000164755	ENST00000520539.1:c.6396T>C	8.37:g.103289313A>G			UBR5_ENST00000521922.1_Silent_p.T2126T|UBR5_ENST00000220959.4_Silent_p.T2132T	p.T2132T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	7002	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2132		B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.6396T>C	CCDS34933.1																																																																																									0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		142.772287	-36	-36	88	88	NM_015902		51	146.413256	146.413256	101	0.335526	0	0	0	1	0	51	101	0.335526	G	103289313	A	G	103289313	2	3	4	1	0	0	0	0	0	0	0	1	16902	175	7	4		4	UBR5	8	103289313	Silent	SNP	A	TCGA-V4-A9E5-01A-11D-A39W-08		103289313	43074709	10	59											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		57.705608	-22	-22	90	90	NM_002072		19	59.234369	59.234369	39	0.327586	0	0	0	1	0	19	39	0.327586	G	80409488	T	G	80409488	3	3	4	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9E5-01A-11D-A39W-08		80409488	60803943	11	60											
SSX5	6758	broad.mit.edu	37	X	48054516	48054516	+	Intron	SNP	C	C	G			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chrX:48054516C>G	ENST00000376923.1	-	1	69				SSX5_ENST00000311798.1_Missense_Mutation_p.S40T|SSX5_ENST00000347757.1_Intron			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CCAGAACGGACTGAGATTCAC	0.537																																						ENST00000311798.1											0			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(118-120)aGt>aCt	synovial sarcoma, X breakpoint 5						84	74	78					X																	48054516		2203	4299	6502	SO:0001627	intron_variant	6758			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054516C>G	BC016640	BC016640	CCDS14288.1, CCDS14289.1	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			2008-02-05			ENSG00000165583	ENSG00000165583	ENSG00000165583	ENSG00000165583				11339	11339	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300327	300327								Standard	Standard	NM_021015	NM_021015		Approved		uc004diz.1	uc004diz.1	O60225	O60225	OTTHUMG00000021471	OTTHUMG00000021471	ENST00000376923.1:c.69+209G>C	X.37:g.48054516C>G			SSX5_ENST00000376923.1_Intron|SSX5_ENST00000347757.1_Intron	p.S40T	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			3	171	-			23	KRAB-related.	Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.119G>C	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.791560	0.00077	.	.	ENSG00000165583	ENST00000311798	T	0.09630	2.96	0.843	-1.69	0.08186	0.843	-1.69	0.08186	.	.	.	.	.	T	0.05868	0.0153	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.38866	-0.9641	7	0.33940	T	0.23	.	.	.	.	.	40	O60225-2	.	T	40	ENSP00000312415:S40T	ENSP00000312415:S40T	S	-	2	0	0	SSX5	47939460	47939460	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.102000	0.10956	-0.826000	0.04284	-1.180000	0.01717	AGT		0.537	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1		89.840436	-20	-20	68	68	NM_021015		29	92.911887	92.911887	65	0.308511	0	0	0	1	0	29	65	0.308511	G	48054516	C	G	48054516	1	3	4	0	1	0	0	0	0	0	0	0	15207	565	20	5		5	SSX5	23	48054516	Intron	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		48054516	107216044	12	61											
TSC22D3	392517	broad.mit.edu	37	X	107018505	107018505	+	5'Flank	SNP	G	G	T			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chrX:107018505G>T	ENST00000509000.2	+	0	0				TSC22D3_ENST00000372384.2_Silent_p.R49R|TSC22D3_ENST00000506081.1_Silent_p.R49R|TSC22D3_ENST00000315660.4_Silent_p.R49R|TSC22D3_ENST00000372383.4_Silent_p.R49R|TSC22D3_ENST00000514426.1_5'UTR			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						TGCAGCTGCCGAAAGTTGCTC	0.607																																						ENST00000372383.4											0			breast(1)|large_intestine(2)|lung(3)	6						c.(145-147)Cgg>Agg	TSC22 domain family, member 3						82	68	73					X																	107018505		2203	4300	6503	SO:0001631	upstream_gene_variant	1831					sequence-specific DNA binding transcription factor activity	g.chrX:107018505G>T		Z50781		CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2013-02-12			2008-02-15	2005-03-01	2005-03-03	ENSG00000170935	ENSG00000170935	ENSG00000157514	ENSG00000157514		"RNA binding motif (RRM) containing"		31795	3051	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product		"glucocorticoid-induced leucine zipper"		300506			"delta sleep inducing peptide, immunoreactor"	DSIPI			8982256	Standard	Standard	NG_011409	XM_005262098		Approved			uc004enh.3	A6PVI3	Q99576	OTTHUMG00000022169	OTTHUMG00000022168		X.37:g.107018505G>T	Exception_encountered		TSC22D3_ENST00000514426.1_5'UTR|TSC22D3_ENST00000506081.1_Silent_p.R49R|TSC22D3_ENST00000372384.2_Silent_p.R49R|TSC22D3_ENST00000315660.4_Silent_p.R49R	p.R49R	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN			1	512	-			0	AP1-binding (By similarity).		Silent	SNP	ENST00000509000.2	37	c.145C>A																																																																																										0.607	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2		153.109964	-47	-47	69	69	XM_373362		48	153.631065	153.631065	34	0.585366	1	0	2.74224e-37	1	3.00341e-37	48	34	0.585366	T	107018505	G	T	107018505	1	4	4	0	1	0	0	0	0	0	0	0	16606	1057	37	5		5	TSC22D3	23	107018505	5'Flank	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	58963989	107018505	48252055	13	62											
GPR101	83550	broad.mit.edu	37	X	136113492	136113492	+	Silent	SNP	G	G	A	rs200302047		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	g.chrX:136113492G>A	ENST00000298110.1	-	1	341	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TGGCGAAGGCGAACAGGTGGG	0.622																																						ENST00000298110.1											0			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(340-342)ttC>ttT	G protein-coupled receptor 101						77	57	63					X																	136113492		2203	4300	6503	SO:0001819	synonymous_variant	83550				integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113492G>A	AF411115	AF411115	CCDS14662.1	CCDS14662.1	Xq26.3	2014-01-30			2014-01-30			ENSG00000165370	ENSG00000165370	ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	"GPCR / Class A : Orphans"	14963	14963	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300393	300393						11574155	11574155	Standard	Standard	NM_054021	NM_054021		Approved		uc011mwh.2	uc011mwh.2	Q96P66	Q96P66	OTTHUMG00000022521	OTTHUMG00000022521	ENST00000298110.1:c.342C>T	X.37:g.136113492G>A				p.F114F	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	341	-	Acute lymphoblastic leukemia(192;0.000127)		114		Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.342C>T	CCDS14662.1																																																																																									0.622	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		45.655241	-7	-7	24	24			14	46.015072	46.015072	8	0.636364	0	0	0	1	0	14	8	0.636364	A	136113492	G	A	136113492	2	1	4	1	0	0	0	0	0	0	0	1	6622	1049	37	1		1	GPR101	23	136113492	Silent	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	29094987	136113492	19157068	14	63											
CADM3	57863	broad.mit.edu	37	1	159170598	159170598	+	Silent	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr1:159170598C>T	ENST00000368125.4	+	9	1240	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_5'Flank|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.T395T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	361					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T395T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACACAGGAACCTACCTGACAC	0.582																																						ENST00000368125.4											1	Substitution - coding silent(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1081-1083)acC>acT	cell adhesion molecule 3						86	79	82					1																	159170598		2203	4300	6503	SO:0001819	synonymous_variant	57863			adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159170598C>T	AY046418	AY046418	CCDS1182.1, CCDS44251.1	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	17601	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nectin-like 1"	"nectin-like 1"	609743	609743	"immunoglobulin superfamily, member 4B"	IGSF4B	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	11536053	Standard	Standard	NM_021189	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	uc001ftk.2	Q8N126	Q8N126	OTTHUMG00000037177	OTTHUMG00000037177	ENST00000368125.4:c.1083C>T	1.37:g.159170598C>T			CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.T395T	p.T361T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			9	1240	+	all_hematologic(112;0.0429)		361		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.1083C>T	CCDS44251.1																																																																																									0.582	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1		41.635666	-18	-18	36	36	NM_021189		14	42.796043	42.796043	29	0.325581	0	0	0	1	0	14	29	0.325581	T	159170598	C	T	159170598	2	4	5	1	0	0	0	0	0	0	0	1	2568	668	24	3		3	CADM3	1	159170598	Silent	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		159170598	90080023	1	64											
IL1R1	3554	broad.mit.edu	37	2	102793054	102793054	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr2:102793054G>C	ENST00000410023.1	+	12	1863	c.1545G>C	c.(1543-1545)tgG>tgC	p.W515C	IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.W515C|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Missense_Mutation_p.W484C|IL1R1_ENST00000424272.1_3'UTR			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	515	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CTATCCGCTGGTCAGGGGACT	0.458																																						ENST00000410023.1											0			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1543-1545)tgG>tgC	interleukin 1 receptor, type I						58	57	58					2																	102793054		2203	4300	6503	SO:0001583	missense	3554			innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102793054G>C	M27492	M27492	CCDS2055.1, CCDS74547.1	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			2013-01-29			ENSG00000115594	ENSG00000115594	ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	5993	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147810	147810		IL1R, IL1RA		IL1R, IL1RA		1833184, 10191101	1833184, 10191101	Standard	Standard	XM_005263929	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	uc002tbr.3	P14778	P14778	OTTHUMG00000130783	OTTHUMG00000130783	ENST00000410023.1:c.1545G>C	2.37:g.102793054G>C	ENSP00000386380:p.Trp515Cys		IL1R1_ENST00000409929.1_Missense_Mutation_p.W484C|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Missense_Mutation_p.W515C|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron	p.W515C			P14778	IL1R1_HUMAN			12	1863	+			515	TIR.	Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1545G>C	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801015	0.50315	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.03553	3.89;3.89;3.89	5.61	5.61	0.85477	5.61	5.61	0.85477	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.058834	0.64402	D	0.000001	T	0.25494	0.0620	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02339	-1.1174	10	0.87932	D	0	.	19.6511	0.95812	0.0:0.0:1.0:0.0	.	484;515	B8ZZW4;P14778	.;IL1R1_HUMAN	C	484;515;515	ENSP00000386776:W484C;ENSP00000386380:W515C;ENSP00000233946:W515C	ENSP00000233946:W515C	W	+	3	0	0	IL1R1	102159486	102159486	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	7.124000	0.77185	2.646000	0.89796	0.563000	0.77884	TGG		0.458	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1		15.368692	-4	-4	30	30			5	16.01329	16.01329	12	0.294118	0	0	0	1	0	5	12	0.294118	C	102793054	G	C	102793054	3	2	5	1	0	0	0	0	1	0	0	0	7658	1270	44	5	1583	5	IL1R1	2	102793054	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		102793054	140406319	2	65											
BAP1	8314	broad.mit.edu	37	3	52441329	52441383	+	Splice_Site	DEL	GGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA	GGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA	-	rs142131779|rs35797935		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr3:52441329_52441383delGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA	ENST00000460680.1	-	7	909_912	c.438_441delTGGGAGTAGGGGGAGTATCATTTTTTGGGCCCTGACTCTGTTTTTCCCCAGGCCC	c.(436-441)agtggg>ag	p.SG146fs	BAP1_ENST00000296288.5_Splice_Site_p.SG146fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCA	0.58			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Unknown(2)	kidney(1)|pleura(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(436-441)agtggg>ag	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001630	splice_region_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52441329_52441383delGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.438-1TGGGAGTAGGGGGAGTATCATTTTTTGGGCCCTGACTCTGTTTTTCCCCAGGCCC>-	3:g.52441329_52441383delGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA			BAP1_ENST00000296288.5_Splice_Site_p.SG146fs	p.SG146fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	7	909_912	-			0	Interaction with HIP2.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	DEL	ENST00000460680.1		c.438_441delTGGGAGTAGGGGGAGTATCATTTTTTGGGCCCTGACTCTGTTTTTCCCCAGGCCC	CCDS2853.1																																																																																									0.58	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	3.242000e+01	1.002600e+02	-7	-7	49	49		Frame_Shift_Del	25			5	0.865						25	5	0.865	-	52441383	GGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA	-	52441329	8	5	5	1	0	1	0	1	0	0	1	0	1311	1103	39	0	1792	0	BAP1	3	52441329	Splice_Site	DEL	GGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA	TCGA-V4-A9E7-01A-11D-A39W-08		52441329	145581101	3	66											
ATP13A5	344905	broad.mit.edu	37	3	193071963	193071963	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr3:193071963C>T	ENST00000342358.4	-	6	676	c.559G>A	c.(559-561)Gcc>Acc	p.A187T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	187						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACCTCAATGGCGTTGGGCCCA	0.388																																						ENST00000342358.4											0			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(559-561)Gcc>Acc	ATPase type 13A5						123	109	114					3																	193071963		2203	4300	6503	SO:0001583	missense	344905			ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193071963C>T	AK122613	AK122613	CCDS33914.1	CCDS33914.1	3q29	2010-04-20			2010-04-20			ENSG00000187527	ENSG00000187527	ENSG00000187527	ENSG00000187527		"ATPases / P-type"	"ATPases / P-type"	31789	31789	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_198505	NM_198505		Approved	FLJ16025	uc011bsq.2	uc011bsq.2	Q4VNC0	Q4VNC0	OTTHUMG00000156101	OTTHUMG00000156101	ENST00000342358.4:c.559G>A	3.37:g.193071963C>T	ENSP00000341942:p.Ala187Thr			p.A187T	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	6	676	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		187		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.559G>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	2.047	-0.418546	0.04766	.	.	ENSG00000187527	ENST00000342358	T	0.78816	-1.21	5.13	0.117	0.14652	5.13	0.117	0.14652	ATPase, P-type cation-transporter, N-terminal (2);	0.413650	0.22932	N	0.053897	T	0.51822	0.1697	N	0.12471	0.22	0.20764	N	0.999852	B	0.12630	0.006	B	0.15052	0.012	T	0.30090	-0.9990	10	0.14252	T	0.57	-1.2205	5.1409	0.14959	0.2471:0.5171:0.0:0.2358	.	187	Q4VNC0	AT135_HUMAN	T	187	ENSP00000341942:A187T	ENSP00000341942:A187T	A	-	1	0	0	ATP13A5	194554657	194554657	0.007000	0.16637	0.622000	0.29159	0.322000	0.28314	-0.171000	0.09883	-0.306000	0.08818	-0.940000	0.02684	GCC		0.388	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1		140.879801	-34	-34	76	76	NM_198505		42	147.473754	147.473754	6	0.875	0	0	0	1	0	42	6	0.875	T	193071963	C	T	193071963	3	4	5	1	0	0	0	0	1	0	0	0	1127	768	27	1	3195	1	ATP13A5	3	193071963	Missense_Mutation	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08	140630634	193071963	4950467	4	67											
TNPO1	3842	broad.mit.edu	37	5	72184017	72184017	+	Silent	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr5:72184017C>T	ENST00000337273.5	+	13	1842	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R	TNPO1_ENST00000523768.1_Silent_p.R422R|TNPO1_ENST00000454282.1_Silent_p.R422R|TNPO1_ENST00000506351.2_Silent_p.R464R	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	472					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTCTTAGCCGCTATGCACACT	0.488																																						ENST00000337273.5											0			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(1414-1416)cgC>cgT	transportin 1						118	118	118					5																	72184017		2203	4300	6503	SO:0001819	synonymous_variant	3842			interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72184017C>T	U70322	U70322	CCDS4016.1, CCDS43329.1	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312	ENSG00000083312	ENSG00000083312		"Importins"	"Importins"	6401	6401	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"importin 2"	"importin 2"	602901	602901	"karyopherin (importin) beta 2"	KPNB2	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	8808633, 9144189	Standard	Standard	NM_153188	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	uc003kci.4	Q92973	Q92973	OTTHUMG00000100967	OTTHUMG00000100967	ENST00000337273.5:c.1416C>T	5.37:g.72184017C>T			TNPO1_ENST00000523768.1_Silent_p.R422R|TNPO1_ENST00000454282.1_Silent_p.R422R|TNPO1_ENST00000506351.2_Silent_p.R464R	p.R472R	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	13	1842	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	472		B4DVC6|Q92957|Q92975	Silent	SNP	ENST00000337273.5	37	c.1416C>T	CCDS43329.1																																																																																									0.488	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3		98.819435	-21	-21	88	88	NM_002270		34	99.64626	99.64626	52	0.395349	0	0	0	1	0	34	52	0.395349	T	72184017	C	T	72184017	2	4	5	1	0	0	0	0	0	0	0	1	16332	784	28	2		2	TNPO1	5	72184017	Silent	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		72184017	108731243	5	68											
PCDHB16	57717	broad.mit.edu	37	5	140563665	140563665	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr5:140563665G>A	ENST00000361016.2	+	1	2686	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCAGACAACGGCCACCTGTT	0.682																																						ENST00000361016.2											0			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1531-1533)Ggc>Agc							32	33	32					5																	140563665		2143	4165	6308	SO:0001583	missense	0			calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563665G>A	AF217757	AF217757	CCDS4251.1	CCDS4251.1	5q31	2014-04-11			2014-04-11			ENSG00000196963		ENSG00000196963			"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	14546	14546	other	protocadherin	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345	606345						11230163, 11322959	11230163, 11322959	Standard	Standard	NM_020957	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	uc003liv.3	Q9NRJ7	Q9NRJ7	OTTHUMG00000188325	OTTHUMG00000188325	ENST00000361016.2:c.1531G>A	5.37:g.140563665G>A	ENSP00000354293:p.Gly511Ser			p.G511S	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2686	+			511	Cadherin 5.	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1531G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	17.18	3.324679	0.60634	.	.	ENSG00000196963	ENST00000361016	D	0.91407	-2.84	4.26	4.26	0.50523	4.26	4.26	0.50523	Cadherin (5);Cadherin-like (1);	0.000000	0.35040	N	0.003495	D	0.97473	0.9173	H	0.99789	4.78	0.43579	D	0.995916	D	0.89917	1.0	D	0.97110	1.0	D	0.97504	1.0062	10	0.87932	D	0	.	11.0898	0.48108	0.0926:0.0:0.9074:0.0	.	511	Q9NRJ7	PCDBG_HUMAN	S	511	ENSP00000354293:G511S	ENSP00000354293:G511S	G	+	1	0	0	PCDHB16	140543849	140543849	1.000000	0.71417	0.499000	0.27577	0.020000	0.10135	7.779000	0.85648	1.931000	0.55961	0.580000	0.79431	GGC		0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		90.799595	93	93	136	136	NM_020957		31	92.72211	92.72211	59	0.344444	0	0	0	1	0	31	59	0.344444	A	140563665	G	A	140563665	3	1	5	1	0	0	0	0	1	0	0	0	11541	1116	39	1	1533	1	PCDHB16	5	140563665	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08	68379648	140563665	40351595	6	69											
CD109	135228	broad.mit.edu	37	6	74477911	74477911	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr6:74477911G>T	ENST00000287097.5	+	14	1743	c.1631G>T	c.(1630-1632)aGt>aTt	p.S544I	CD109_ENST00000437994.2_Missense_Mutation_p.S544I|CD109_ENST00000422508.2_Missense_Mutation_p.S467I			Q6YHK3	CD109_HUMAN	CD109 molecule	544					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAAATTATAAGTGATGTTCTA	0.279																																						ENST00000437994.2											0			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1630-1632)aGt>aTt	CD109 molecule						69	73	72					6																	74477911		2203	4299	6502	SO:0001583	missense	135228				anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74477911G>T	AF410459	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535	ENSG00000156535	ENSG00000156535		"CD molecules"	"CD molecules"	21685	21685	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608859	608859	"CD109 antigen (Gov platelet alloantigens)"		"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	11861284, 11861285	Standard	Standard	XM_005248659	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	uc003php.3	Q6YHK3	Q6YHK3	OTTHUMG00000015040	OTTHUMG00000015040	ENST00000287097.5:c.1631G>T	6.37:g.74477911G>T	ENSP00000287097:p.Ser544Ile		CD109_ENST00000287097.5_Missense_Mutation_p.S544I|CD109_ENST00000422508.2_Missense_Mutation_p.S467I	p.S544I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			14	2062	+			544		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.1631G>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233090	0.39498	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.62639	0.01;0.01;0.01	4.76	0.895	0.19247	4.76	0.895	0.19247	Alpha-2-macroglobulin, N-terminal 2 (1);	0.273890	0.40222	N	0.001160	T	0.30854	0.0778	L	0.32530	0.975	0.22342	N	0.999181	B;B;B;B	0.33477	0.413;0.298;0.107;0.045	B;B;B;B	0.37833	0.088;0.259;0.241;0.189	T	0.21109	-1.0255	10	0.52906	T	0.07	.	8.3782	0.32455	0.7563:0.0:0.2437:0.0	.	467;544;544;544	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	I	544;467;544	ENSP00000388062:S544I;ENSP00000404475:S467I;ENSP00000287097:S544I	ENSP00000287097:S544I	S	+	2	0	0	CD109	74534632	74534632	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	2.037000	0.41174	0.076000	0.16826	-0.752000	0.03492	AGT		0.279	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3		49.711136	-17	-17	31	31	NM_133493		14	51.881834	51.881834	1	0.933333	1	0	2.61681e-11	1	2.73576e-11	14	1	0.933333	T	74477911	G	T	74477911	3	4	5	1	0	0	0	0	1	0	0	0	2963	1029	36	5	1685	5	CD109	6	74477911	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		74477911	96637156	7	70											
COL12A1	1303	broad.mit.edu	37	6	75890813	75890813	+	Missense_Mutation	SNP	G	G	A	rs201657576	byFrequency	TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr6:75890813G>A	ENST00000322507.8	-	11	2315	c.2006C>T	c.(2005-2007)gCg>gTg	p.A669V	COL12A1_ENST00000483888.2_Missense_Mutation_p.A669V|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A669V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	669	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATCCCCAGCCGCTTCCTTGTA	0.458													G|||	2	0.000399361	8e-04	0	5008	,	,		16115	0.001		0	False		,,,				2504	0					ENST00000322507.8											0			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2005-2007)gCg>gTg	collagen, type XII, alpha 1	G	VAL/ALA,	2,3952		0,2,1975	85	87	86		2006,	4.2	0.1	6		86	0,8322		0,0,4161	yes	missense,intron	COL12A1	NM_004370.5,NM_080645.2	64,	0,2,6136	AA,AG,GG		0.0,0.0506,0.0163	benign,	669/3064,	75890813	2,12274	1977	4161	6138	SO:0001583	missense	1303			cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75890813G>A	U73779	U73779	CCDS43481.1, CCDS43482.1	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799	ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	2188	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	"collagen type XII proteoglycan"	120320	120320	"collagen, type XII, alpha 1-like"	COL12A1L	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	9143499	Standard	Standard	XM_006715334	XM_006715334		Approved		uc003phs.3	uc003phs.3	Q99715	Q99715	OTTHUMG00000015051	OTTHUMG00000015051	ENST00000322507.8:c.2006C>T	6.37:g.75890813G>A	ENSP00000325146:p.Ala669Val		COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A669V|COL12A1_ENST00000483888.2_Missense_Mutation_p.A669V	p.A669V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			11	2315	-			669	Fibronectin type-III 3.	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2006C>T	CCDS43482.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.12	1.842601	0.32606	5.06E-4	0.0	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.56275	0.47;0.47;0.47	5.98	4.21	0.49690	5.98	4.21	0.49690	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168103	0.40908	N	0.000992	T	0.23649	0.0572	L	0.43646	1.37	0.28392	N	0.919033	B;B	0.34214	0.08;0.442	B;B	0.33568	0.086;0.166	T	0.16100	-1.0414	10	0.13853	T	0.58	.	14.2403	0.65952	0.0902:0.0:0.9098:0.0	.	669;669	D6RGG3;Q99715	.;COCA1_HUMAN	V	669	ENSP00000325146:A669V;ENSP00000412864:A669V;ENSP00000421216:A669V	ENSP00000325146:A669V	A	-	2	0	0	COL12A1	75947533	75947533	0.511000	0.26179	0.076000	0.20297	0.403000	0.30841	2.140000	0.42159	0.870000	0.35726	0.650000	0.86243	GCG		0.458	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3		87.267866	-9	-9	55	55	NM_004370		26	90.193657	90.193657	6	0.8125	0	0	0	1	0	26	6	0.8125	A	75890813	G	A	75890813	3	1	5	1	0	0	0	0	1	0	0	0	3669	1087	38	1	7409	1	COL12A1	6	75890813	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08	1412902	75890813	95224254	8	71											
FBXO10	26267	broad.mit.edu	37	9	37518321	37518321	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr9:37518321G>A	ENST00000432825.2	-	9	2363	c.2315C>T	c.(2314-2316)gCc>gTc	p.A772V	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.A297V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	772					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCTGTTGTTGGCCACTCGGGT	0.582																																						ENST00000432825.2											0			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2314-2316)gCc>gTc	F-box protein 10						82	92	89					9																	37518321		2134	4240	6374	SO:0001583	missense	26267				ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37518321G>A	AF174598	AF174598	CCDS47966.1	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912	ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	"F-boxes /  "other""	13589	13589	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609092	609092	"F-box only protein 10"		"F-box only protein 10"			10531035, 10531037, 19300908	10531035, 10531037, 19300908	Standard	Standard	NM_012166	NM_012166		Approved	FBX10	uc004aab.3	uc004aab.3	Q9UK96	Q9UK96	OTTHUMG00000019926	OTTHUMG00000019926	ENST00000432825.2:c.2315C>T	9.37:g.37518321G>A	ENSP00000403802:p.Ala772Val		FBXO10_ENST00000541829.1_Missense_Mutation_p.A297V|RP11-613M10.8_ENST00000544475.1_5'UTR	p.A772V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2363	-			772		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2315C>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893263	0.52121	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.79845	-1.31;-1.31	5.36	5.36	0.76844	5.36	5.36	0.76844	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.418647	0.25549	N	0.029907	T	0.66066	0.2752	N	0.12182	0.205	0.37402	D	0.91289	B;B;B	0.19706	0.011;0.038;0.013	B;B;B	0.20955	0.017;0.032;0.032	T	0.65228	-0.6219	10	0.30854	T	0.27	-5.8176	13.6118	0.62083	0.0:0.1557:0.8442:0.0	.	651;297;772	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	V	772;297	ENSP00000403802:A772V;ENSP00000441307:A297V	ENSP00000403802:A772V	A	-	2	0	0	FBXO10	37508321	37508321	0.805000	0.28982	0.991000	0.47740	0.956000	0.61745	2.188000	0.42612	2.496000	0.84212	0.563000	0.77884	GCC		0.582	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3		1.803595	-12	-12	35	35			3	6.853114	6.853114	28	0.096774	0	0	0	1	0	3	28	0.096774	A	37518321	G	A	37518321	3	1	5	1	0	0	0	0	1	0	0	0	5726	1203	42	2	567	2	FBXO10	9	37518321	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		37518321	103695110	9	72											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		122.079531	-41	-41	71	71	NM_002072		37	122.158251	122.158251	32	0.536232	0	0	0	1	0	37	32	0.536232	A	80409488	T	A	80409488	3	1	5	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9E7-01A-11D-A39W-08	42891167	80409488	60803943	10	73											
INPP5A	3632	broad.mit.edu	37	10	134595441	134595441	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr10:134595441A>T	ENST00000368594.3	+	15	1512	c.1235A>T	c.(1234-1236)cAg>cTg	p.Q412L	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	412					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGTGTCGTGCAGTGACGTGGT	0.527																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3											0			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1234-1236)cAg>cTg	inositol polyphosphate-5-phosphatase, 40kDa						134	146	142					10																	134595441		2185	4283	6468	SO:0001583	missense	3632			cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134595441A>T	X77567	X77567	CCDS7669.2	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	ENSG00000068383	ENSG00000068383	3.1.3.56			6076	6076	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	600106	"inositol polyphosphate-5-phosphatase, 40kD"		"inositol polyphosphate-5-phosphatase, 40kD"			8013665	8013665	Standard	Standard	NM_005539	NM_005539		Approved	5PTASE	uc001llp.3	uc001llp.3	Q14642	Q14642	OTTHUMG00000019293	OTTHUMG00000019293	ENST00000368594.3:c.1235A>T	10.37:g.134595441A>T	ENSP00000357583:p.Gln412Leu			p.Q412L	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	15	1512	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	412		D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.1235A>T	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300456	0.81136	.	.	ENSG00000068383	ENST00000368594;ENST00000416326;ENST00000432898	T	0.48836	0.8	4.46	4.46	0.54185	4.46	4.46	0.54185	.	0.322809	0.25925	N	0.027401	T	0.39572	0.1083	L	0.44542	1.39	0.80722	D	1	B;P	0.37466	0.024;0.596	B;B	0.32864	0.02;0.154	T	0.46665	-0.9175	10	0.87932	D	0	.	14.0663	0.64831	1.0:0.0:0.0:0.0	.	355;412	F5GWM1;Q14642	.;I5P1_HUMAN	L	412;355;329	ENSP00000357583:Q412L	ENSP00000357583:Q412L	Q	+	2	0	0	INPP5A	134445431	134445431	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.359000	0.73060	1.797000	0.52628	0.374000	0.22700	CAG		0.527	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1		127.454701	-19	-19	106	106	NM_005539		41	128.312041	128.312041	61	0.401961	0	0	0	1	0	41	61	0.401961	T	134595441	A	T	134595441	3	4	5	1	0	0	0	0	1	0	0	0	7754	188	7	5	1293	5	INPP5A	10	134595441	Missense_Mutation	SNP	A	TCGA-V4-A9E7-01A-11D-A39W-08		134595441	939306	11	74											
FAT3	120114	broad.mit.edu	37	11	92620220	92620220	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr11:92620220G>T	ENST00000298047.6	+	24	13009	c.12992G>T	c.(12991-12993)gGc>gTc	p.G4331V	FAT3_ENST00000525166.1_Missense_Mutation_p.G4181V|FAT3_ENST00000533797.1_Missense_Mutation_p.G666V|FAT3_ENST00000409404.2_Missense_Mutation_p.G4331V|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4331					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)				AGTAATAAAGGCAGCAACTCT	0.478										TCGA Ovarian(4;0.039)																												ENST00000298047.6											0			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						c.(12991-12993)gGc>gTc	FAT atypical cadherin 3						58	60	60					11																	92620220		1896	4129	6025	SO:0001583	missense	120114			homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92620220G>T	AB076400	AB076400			11q14.3	2013-05-31	2013-05-31		2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	"Cadherins / Cadherin-related"	23112	23112	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cadherin-related family member 10"	"cadherin-related family member 10"	612483	612483	"FAT tumor suppressor homolog 3 (Drosophila)"		"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	11811999	Standard	Standard	NM_001008781	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	uc001pdj.4	Q8TDW7	Q8TDW7	OTTHUMG00000154468	OTTHUMG00000154468	ENST00000298047.6:c.12992G>T	11.37:g.92620220G>T	ENSP00000298047:p.Gly4331Val		FAT3_ENST00000533797.1_Missense_Mutation_p.G666V|FAT3_ENST00000409404.2_Missense_Mutation_p.G4331V|FAT3_ENST00000525166.1_Missense_Mutation_p.G4181V|FAT3_ENST00000489716.1_3'UTR	p.G4331V			Q8TDW7	FAT3_HUMAN			24	13009	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4331		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12992G>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.193067	0.78902	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86956	-0.82;-0.9;-0.83;-2.19	5.73	5.73	0.89815	5.73	5.73	0.89815	.	.	.	.	.	D	0.91928	0.7444	M	0.75264	2.295	0.80722	D	1	D;B	0.59767	0.986;0.008	P;B	0.55391	0.775;0.017	D	0.91473	0.5198	9	0.49607	T	0.09	.	19.8991	0.96978	0.0:0.0:1.0:0.0	.	4331;4331	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	V	4331;4331;4181;666	ENSP00000298047:G4331V;ENSP00000387040:G4331V;ENSP00000432586:G4181V;ENSP00000436399:G666V	ENSP00000298047:G4331V	G	+	2	0	0	FAT3	92259868	92259868	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.551000	0.67274	2.708000	0.92522	0.655000	0.94253	GGC		0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding			23.596017	-3	-3	10	10	NM_001008781		8	23.644637	23.644637	10	0.444444	1	0	0.00448238	1	0.00448238	8	10	0.444444	T	92620220	G	T	92620220	3	4	5	1	0	0	0	0	1	0	0	0	5691	1203	42	5	13086	5	FAT3	11	92620220	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		92620220	42386296	12	75											
OR6C65	403282	broad.mit.edu	37	12	55795145	55795145	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr12:55795145C>T	ENST00000379665.2	+	1	932	c.833C>T	c.(832-834)tCt>tTt	p.S278F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	278						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(3)|lung(9)	15						CTTAATACCTCTGTTGCTCCT	0.373																																						ENST00000379665.2											0			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(832-834)tCt>tTt	olfactory receptor, family 6, subfamily C, member 65						80	77	78					12																	55795145		2203	4300	6503	SO:0001583	missense	403282			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795145C>T			CCDS31821.1	CCDS31821.1	12q13.2	2013-09-23			2013-09-23			ENSG00000205328	ENSG00000205328	ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	31295	31295	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001005518	NM_001005518		Approved		uc010spl.2	uc010spl.2	A6NJZ3	A6NJZ3	OTTHUMG00000169955	OTTHUMG00000169955	ENST00000379665.2:c.833C>T	12.37:g.55795145C>T	ENSP00000368986:p.Ser278Phe			p.S278F	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	932	+			278		B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.833C>T	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631695	0.29068	.	.	ENSG00000205328	ENST00000379665	T	0.00076	8.76	4.24	2.31	0.28768	4.24	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	U	0.001404	T	0.00300	0.0009	L	0.49126	1.545	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.48917	-0.8992	10	0.87932	D	0	.	7.3666	0.26776	0.0:0.6774:0.0:0.3226	.	278	A6NJZ3	O6C65_HUMAN	F	278	ENSP00000368986:S278F	ENSP00000368986:S278F	S	+	2	0	0	OR6C65	54081412	54081412	0.002000	0.14202	0.407000	0.26434	0.316000	0.28119	1.431000	0.34925	0.870000	0.35726	0.424000	0.28305	TCT		0.373	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1		94.347626	-13	-13	75	75			30	94.362455	94.362455	28	0.517241	0	0	0	1	0	30	28	0.517241	T	55795145	C	T	55795145	3	4	5	1	0	0	0	0	1	0	0	0	11195	913	32	3	835	3	OR6C65	12	55795145	Missense_Mutation	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		55795145	78056750	13	76											
RAB2B	84932	broad.mit.edu	37	14	21936887	21936887	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr14:21936887T>C	ENST00000397762.1	-	4	311	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	71					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		GAACGGGTGATAGAACGGAAG	0.498																																					Melanoma(131;1007 1750 28652 34486 42672)	ENST00000397762.1											0			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(211-213)Atc>Gtc	RAB2B, member RAS oncogene family						91	83	86					14																	21936887		2203	4300	6503	SO:0001583	missense	84932			protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding	g.chr14:21936887T>C	AK027730	AK027730	CCDS9570.1	CCDS9570.1	14q11.1	2006-12-18			2006-12-18			ENSG00000129472	ENSG00000129472	ENSG00000129472	ENSG00000129472		"RAB, member RAS oncogene"	"RAB, member RAS oncogene"	20246	20246	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607466	607466						12376746	12376746	Standard	Standard	NM_032846	NM_032846		Approved	FLJ14824	uc010tlt.2	uc010tlt.2	Q8WUD1	Q8WUD1	OTTHUMG00000029693	OTTHUMG00000029693	ENST00000397762.1:c.211A>G	14.37:g.21936887T>C	ENSP00000380869:p.Ile71Val		RAB2B_ENST00000461909.1_5'UTR	p.I71V	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)	4	311	-	all_cancers(95;0.000858)		71		B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	c.211A>G	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.578189	0.65878	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.77229	-1.08	5.81	5.81	0.92471	5.81	5.81	0.92471	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000003	T	0.75406	0.3845	L	0.33753	1.03	0.80722	D	1	P	0.40602	0.723	P	0.47786	0.557	T	0.72846	-0.4169	10	0.27082	T	0.32	.	15.1438	0.72633	0.0:0.0:0.0:1.0	.	71	Q8WUD1	RAB2B_HUMAN	V	71	ENSP00000380869:I71V	ENSP00000302005:I71V	I	-	1	0	0	RAB2B	21006727	21006727	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.832000	0.69337	2.216000	0.71823	0.533000	0.62120	ATC		0.498	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4		81.175286	-16	-16	34	34			25	81.31395	81.31395	31	0.446429	0	0	0	1	0	25	31	0.446429	C	21936887	T	C	21936887	3	2	5	1	0	0	0	0	1	0	0	0	12918	1406	49	4	459	4	RAB2B	14	21936887	Missense_Mutation	SNP	T	TCGA-V4-A9E7-01A-11D-A39W-08		21936887	85412653	14	77											
FUK	197258	broad.mit.edu	37	16	70500085	70500085	+	Silent	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr16:70500085C>T	ENST00000288078.6	+	5	568	c.336C>T	c.(334-336)ccC>ccT	p.P112P	FUK_ENST00000428974.2_Silent_p.P95P|FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.P144P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	112						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGCCTCCCCGTGGAGAACC	0.637																																						ENST00000288078.6											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(334-336)ccC>ccT	fucokinase						55	61	59					16																	70500085		1960	4122	6082	SO:0001819	synonymous_variant	197258				cytoplasm	ATP binding|fucokinase activity	g.chr16:70500085C>T			CCDS10891.2	CCDS10891.2	16q22.1	2008-02-05			2008-02-05			ENSG00000157353	ENSG00000157353	ENSG00000157353	ENSG00000157353	2.7.1.52			29500	29500	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"L-fucose kinase"	"L-fucose kinase"	608675	608675						12056818	12056818	Standard	Standard	XM_006721161	XM_006721161		Approved	FLJ39408	uc002eyy.3	uc002eyy.3	Q8N0W3	Q8N0W3	OTTHUMG00000074085	OTTHUMG00000074085	ENST00000288078.6:c.336C>T	16.37:g.70500085C>T			FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Silent_p.P95P|FUK_ENST00000378912.2_Silent_p.P144P	p.P112P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			5	568	+		Ovarian(137;0.0694)	112		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.336C>T	CCDS10891.2																																																																																									0.637	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2		99.294839	8	8	65	65	NM_145059		29	102.044972	102.044972	8	0.783784	0	0	0	1	0	29	8	0.783784	T	70500085	C	T	70500085	2	4	5	1	0	0	0	0	0	0	0	1	6096	639	23	1		1	FUK	16	70500085	Silent	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		70500085	19854668	15	78											
MYO1C	4641	ucsc.edu	37	17	1371413	1371413	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr17:1371413G>A	ENST00000575158.1	-	28	2836	c.2660C>T	c.(2659-2661)gCg>gTg	p.A887V	MYO1C_ENST00000438665.2_Missense_Mutation_p.A903V|MYO1C_ENST00000361007.2_Missense_Mutation_p.A887V|MYO1C_ENST00000359786.5_Missense_Mutation_p.A922V|MYO1C_ENST00000545534.2_Missense_Mutation_p.A898V			Q12965	MYO1E_HUMAN	myosin IC	767	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AACAGGCACCGCATACTGGGG	0.652																																																	0																	35	35	35					17																	1371413		2203	4300	6503	SO:0001583	missense	4641							X98507	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			2011-09-27			ENSG00000197879	ENSG00000197879	ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	"Myosins / Myosin superfamily : Class I"	7597	7597	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606538	606538						9119401	9119401	Standard	Standard	NM_001080779	NM_001080779		Approved	myr2	uc002fsp.3	uc002fsp.3	O00159	O00159	OTTHUMG00000090323	OTTHUMG00000090323	ENST00000575158.1:c.2660C>T	17.37:g.1371413G>A	ENSP00000459174:p.Ala887Val																	Q14778	Missense_Mutation	SNP	ENST00000575158.1	37		CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968607	0.53614	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.7	5.7	0.88788	5.7	5.7	0.88788	Myosin tail 2 (1);	0.101437	0.64402	D	0.000002	T	0.53142	0.1778	M	0.69248	2.105	0.58432	D	0.999998	P;P	0.50528	0.766;0.936	B;P	0.48334	0.206;0.574	T	0.56523	-0.7965	10	0.62326	D	0.03	.	18.8353	0.92159	0.0:0.0:1.0:0.0	.	922;903	O00159;O00159-3	MYO1C_HUMAN;.	V	922;903;903;887;898	ENSP00000352834:A922V;ENSP00000412197:A903V;ENSP00000354283:A887V;ENSP00000437685:A898V	ENSP00000352834:A922V	A	-	2	0	0	MYO1C	1318163	1318163	1.000000	0.71417	0.154000	0.22540	0.198000	0.23893	6.511000	0.73733	2.688000	0.91661	0.655000	0.94253	GCG		0.652	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			-4	-4	29	29			4			24							4	24		A	1371413	G	A	1371413	3	1	5	1	0	0	0	0	1	0	0	0	10070	1087	38	1	446	1	MYO1C	17	1371413	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		1371413	79823797	16	79											
ALKBH7	84266	broad.mit.edu	37	19	6374569	6374569	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:6374569delT	ENST00000245812.3	+	3	860	c.472delT	c.(472-474)ttgfs	p.L159fs	ALKBH7_ENST00000596657.1_Frame_Shift_Del_p.L17fs|ALKBH7_ENST00000599849.1_Frame_Shift_Del_p.L98fs	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	159					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCTGGAACTCTTGCTGGAGCC	0.642																																						ENST00000245812.3											0			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(472-474)ttgfs	alkB, alkylation repair homolog 7 (E. coli)						41	50	47					19																	6374569		2203	4300	6503	SO:0001589	frameshift_variant	84266				extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:6374569delT	AY427650	AY427650	CCDS12163.1	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		ENSG00000125652		"Alkylation repair homologs"	"Alkylation repair homologs"	21306	21306	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613305	613305	"spermatogenesis associated 11"	SPATA11	"spermatogenesis associated 11"	SPATA11		12477932	12477932	Standard	Standard	NM_032306	NM_032306		Approved	MGC10974	uc002meo.2	uc002meo.2	Q9BT30	Q9BT30			ENST00000245812.3:c.472delT	19.37:g.6374569delT	ENSP00000245812:p.Leu159fs		ALKBH7_ENST00000596657.1_Frame_Shift_Del_p.L17fs|ALKBH7_ENST00000599849.1_Frame_Shift_Del_p.L98fs	p.L159fs	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN			3	860	+			159		B2R4U9|Q53FF3	Frame_Shift_Del	DEL	ENST00000245812.3	37	c.472delT	CCDS12163.1																																																																																									0.642	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1	.	.	-10	-10	37	37	NM_032306		22			16	0.58						22	16	0.58	-	6374569	T	-	6374569	7	5	5	1	0	1	0	1	0	0	0	0	532	1606	56	0	482	0	ALKBH7	19	6374569	Frame_Shift_Del	DEL	T	TCGA-V4-A9E7-01A-11D-A39W-08		6374569	52754414	17	80											
MUC16	94025	broad.mit.edu	37	19	9089401	9089401	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:9089401C>T	ENST00000397910.4	-	1	2617	c.2414G>A	c.(2413-2415)aGt>aAt	p.S805N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	805	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGAGGACACTCCCTGCTGT	0.512																																						ENST00000397910.4											0			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2413-2415)aGt>aAt	mucin 16, cell surface associated						231	222	225					19																	9089401		2047	4191	6238	SO:0001583	missense	94025			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089401C>T	AF414442	AF414442	CCDS54212.1	CCDS54212.1	19p13.2	2008-02-05	2006-03-14		2008-02-05	2006-03-14			ENSG00000181143		ENSG00000181143		"Mucins"	"Mucins"	15582	15582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606154	606154						11369781	11369781	Standard	Standard	XM_006722941	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	uc002mkp.3	Q8WXI7	Q8WXI7			ENST00000397910.4:c.2414G>A	19.37:g.9089401C>T	ENSP00000381008:p.Ser805Asn			p.S805N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2617	-			805	Thr-rich.	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2414G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.021	0.001418	0.07819	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.56	1.56	0.23342	1.56	1.56	0.23342	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.38156	0.266	T	0.45469	-0.9259	8	0.87932	D	0	.	6.5643	0.22503	0.0:1.0:0.0:0.0	.	805	B5ME49	.	N	805	ENSP00000381008:S805N	ENSP00000381008:S805N	S	-	2	0	0	MUC16	8950401	8950401	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.046000	0.03525	1.175000	0.42826	0.205000	0.17691	AGT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		198.278500	-20	-20	122	122	NM_024690		64	198.813823	198.813823	83	0.435374	0	0	0	1	0	64	83	0.435374	T	9089401	C	T	9089401	3	4	5	1	0	0	0	0	1	0	0	0	9973	565	20	3	41445	3	MUC16	19	9089401	Missense_Mutation	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08	2714832	9089401	50039582	18	81											
BCL2L12	83596	broad.mit.edu	37	19	50173670	50173670	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:50173670delG	ENST00000246785.3	+	6	1137	c.879delG	c.(877-879)ctgfs	p.L293fs	BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Frame_Shift_Del_p.L292fs	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	293					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TGGCCGGGCTGGGGGGCACCC	0.751																																						ENST00000246785.3											0			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(877-879)ctgfs	BCL2-like 12 (proline rich)		,	46,3752		18,10,1871	4	4	4		,	4	0.1	19		4	106,7320		48,10,3655	no	frameshift,frameshift	BCL2L12	NM_138639.1,NM_001040668.1	,	66,20,5526	A1A1,A1R,RR		1.4274,1.2112,1.3542	,	,	50173670	152,11072	2030	3968	5998	SO:0001589	frameshift_variant	83596			apoptosis			g.chr19:50173670delG	AF289220	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07			2014-03-07				ENSG00000126453		ENSG00000126453				13787	13787	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610837	610837								Standard	Standard	NM_001040668	NM_001040668		Approved		uc002ppa.3	uc002ppa.3	Q9HB09	Q9HB09			ENST00000246785.3:c.879delG	19.37:g.50173670delG	ENSP00000246785:p.Leu293fs		BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Frame_Shift_Del_p.L292fs	p.L293fs	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	6	1137	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	293		Q3SY11|Q3SY13|Q96I96|Q9HB08	Frame_Shift_Del	DEL	ENST00000246785.3	37	c.879delG	CCDS12776.1																																																																																									0.751	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	.	.	3	3	5	5	NM_052842		2			4	0.33						2	4	0.33	-	50173670	G	-	50173670	7	5	5	1	0	1	0	1	0	0	0	0	1370	1335	47	0	901	0	BCL2L12	19	50173670	Frame_Shift_Del	DEL	G	TCGA-V4-A9E7-01A-11D-A39W-08	41084269	50173670	8955313	19	82											
RYR2	6262	broad.mit.edu	37	1	237777594	237777594	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr1:237777594C>A	ENST00000366574.2	+	37	5483	c.5166C>A	c.(5164-5166)aaC>aaA	p.N1722K	RYR2_ENST00000360064.6_Missense_Mutation_p.N1720K|RYR2_ENST00000542537.1_Missense_Mutation_p.N1706K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1722	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCATGATGAACAACGAGTACA	0.527																																						ENST00000366574.2											0			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5164-5166)aaC>aaA	ryanodine receptor 2 (cardiac)						61	61	61					1																	237777594		2151	4259	6410	SO:0001583	missense	6262			cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777594C>A	X91869	X91869	CCDS55691.1	CCDS55691.1	1q43	2014-09-17			2014-09-17			ENSG00000198626	ENSG00000198626	ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	10484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180902	180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	2380170, 8406504, 11159936	Standard	Standard	NM_001035	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	uc001hyl.1	Q92736	Q92736	OTTHUMG00000039543	OTTHUMG00000039543	ENST00000366574.2:c.5166C>A	1.37:g.237777594C>A	ENSP00000355533:p.Asn1722Lys		RYR2_ENST00000542537.1_Missense_Mutation_p.N1706K|RYR2_ENST00000360064.6_Missense_Mutation_p.N1720K	p.N1722K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5483	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1722	4 X approximate repeats.	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5166C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	2.823	-0.244362	0.05906	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73363	-0.74;-0.74;-0.74	5.43	4.52	0.55395	5.43	4.52	0.55395	.	0.000000	0.64402	D	0.000003	T	0.48095	0.1481	N	0.12182	0.205	0.80722	D	1	B	0.31968	0.349	B	0.22152	0.038	T	0.51585	-0.8687	10	0.02654	T	1	.	10.8808	0.46937	0.0:0.8366:0.0:0.1634	.	1722	Q92736	RYR2_HUMAN	K	1722;1720;1706	ENSP00000355533:N1722K;ENSP00000353174:N1720K;ENSP00000443798:N1706K	ENSP00000353174:N1720K	N	+	3	2	2	RYR2	235844217	235844217	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	1.586000	0.36611	1.294000	0.44707	0.650000	0.86243	AAC		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		35.627336	-9	-9	31	31	NM_001035		11	35.730505	35.730505	8	0.578947	1	0	0.010729	1	0.0117044	11	8	0.578947	A	237777594	C	A	237777594	3	1	6	1	0	0	0	0	1	0	0	0	13769	477	17	5	5312	5	RYR2	1	237777594	Missense_Mutation	SNP	C	TCGA-V4-A9E8-01A-11D-A39W-08		237777594	11473027	1	83											
OR2L3	391192	broad.mit.edu	37	1	248224859	248224859	+	Silent	SNP	G	G	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr1:248224859G>A	ENST00000359959.3	+	1	876	c.876G>A	c.(874-876)agG>agA	p.R292R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			ATAGCCTGAGGAACAAGGAGG	0.498																																						ENST00000359959.3											0			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(874-876)agG>agA	olfactory receptor, family 2, subfamily L, member 3						59	60	59					1																	248224859		2203	4300	6503	SO:0001819	synonymous_variant	391192			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224859G>A	AB065950	AB065950	CCDS31104.1	CCDS31104.1	1q44	2012-08-09			2012-08-09			ENSG00000198128	ENSG00000198128	ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	15009	15009	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004687	NM_001004687		Approved		uc001idx.1	uc001idx.1	Q8NG85	Q8NG85	OTTHUMG00000040195	OTTHUMG00000040195	ENST00000359959.3:c.876G>A	1.37:g.248224859G>A			OR2L13_ENST00000366478.2_Intron	p.R292R	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	876	+	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)		292		B9EH44	Silent	SNP	ENST00000359959.3	37	c.876G>A	CCDS31104.1																																																																																									0.498	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1		37.528827	0	0	66	66	NM_001004687		14	39.548491	39.548491	35	0.285714	0	0	0	1	0	14	35	0.285714	A	248224859	G	A	248224859	2	1	6	1	0	0	0	0	0	0	0	1	11008	1165	41	3		3	OR2L3	1	248224859	Silent	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08	10447265	248224859	1025762	2	84											
PSME4	23198	broad.mit.edu	37	2	54096539	54096539	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr2:54096539G>A	ENST00000404125.1	-	44	5292	c.5237C>T	c.(5236-5238)tCt>tTt	p.S1746F	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.S890F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1746					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATCTCCTACAGAACCAGGGTC	0.398																																						ENST00000404125.1											0			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5236-5238)tCt>tTt	proteasome (prosome, macropain) activator subunit 4						236	224	228					2																	54096539		2203	4300	6503	SO:0001583	missense	23198			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54096539G>A	D38521	D38521	CCDS33197.2	CCDS33197.2	2p16.1	2003-04-14			2003-04-14			ENSG00000068878	ENSG00000068878	ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	"Proteasome (prosome, macropain) subunits"	20635	20635	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607705	607705						7584044, 12093752	7584044, 12093752	Standard	Standard	NM_014614	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	uc002rxp.2	Q14997	Q14997	OTTHUMG00000151852	OTTHUMG00000151852	ENST00000404125.1:c.5237C>T	2.37:g.54096539G>A	ENSP00000384211:p.Ser1746Phe		PSME4_ENST00000421748.2_Missense_Mutation_p.S890F|PSME4_ENST00000476586.1_5'UTR	p.S1746F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		44	5292	-			1746		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.5237C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758877	0.49468	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.27104	1.69;1.7	5.97	1.06	0.20224	5.97	1.06	0.20224	Armadillo-like helical (1);Armadillo-type fold (1);	0.452374	0.27871	N	0.017506	T	0.23410	0.0566	L	0.54323	1.7	0.39967	D	0.974742	B;B;B;B	0.32526	0.089;0.374;0.374;0.205	B;B;B;B	0.33521	0.028;0.106;0.165;0.031	T	0.05305	-1.0893	10	0.52906	T	0.07	0.01	9.5626	0.39378	0.3708:0.0:0.6292:0.0	.	1121;890;890;1746	Q14997-2;Q14997-3;F8WB44;Q14997	.;.;.;PSME4_HUMAN	F	890;1746	ENSP00000410830:S890F;ENSP00000384211:S1746F	ENSP00000384211:S1746F	S	-	2	0	0	PSME4	53950043	53950043	1.000000	0.71417	0.417000	0.26559	0.996000	0.88848	3.583000	0.53928	-0.081000	0.12662	0.591000	0.81541	TCT		0.398	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1		133.535041	8	8	200	200	XM_040158		48	139.109509	139.109509	111	0.301887	0	0	0	1	0	48	111	0.301887	A	54096539	G	A	54096539	3	1	6	1	0	0	0	0	1	0	0	0	12709	942	33	3	306	3	PSME4	2	54096539	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		54096539	189102834	3	85											
TGFBRAP1	9392	broad.mit.edu	37	2	105890086	105890086	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr2:105890086G>T	ENST00000393359.2	-	9	2153	c.1727C>A	c.(1726-1728)cCa>cAa	p.P576Q	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P576Q			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	576					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AATGTCGTCTGGATTAAAACT	0.433																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2											0			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1726-1728)cCa>cAa	transforming growth factor, beta receptor associated protein 1						215	206	209					2																	105890086		2203	4300	6503	SO:0001583	missense	9392			regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105890086G>T	AF022795	AF022795	CCDS2067.1	CCDS2067.1	2q12.1	2008-02-05			2008-02-05			ENSG00000135966	ENSG00000135966	ENSG00000135966	ENSG00000135966				16836	16836	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606237	606237						9545258, 11278302	9545258, 11278302	Standard	Standard	NM_001142621	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	uc002tcr.4	Q8WUH2	Q8WUH2	OTTHUMG00000130809	OTTHUMG00000130809	ENST00000393359.2:c.1727C>A	2.37:g.105890086G>T	ENSP00000377027:p.Pro576Gln		TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P576Q	p.P576Q			Q8WUH2	TGFA1_HUMAN			9	2153	-			576		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1727C>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823339	0.50739	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.19806	2.12;2.12	5.58	4.7	0.59300	5.58	4.7	0.59300	.	0.053943	0.85682	D	0.000000	T	0.49729	0.1574	M	0.90145	3.09	0.49483	D	0.999793	D;P	0.89917	1.0;0.952	D;P	0.81914	0.995;0.88	T	0.56038	-0.8045	10	0.19590	T	0.45	-14.4711	12.6216	0.56605	0.0768:0.0:0.9232:0.0	.	31;576	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	Q	576;576;31	ENSP00000377027:P576Q;ENSP00000258449:P576Q	ENSP00000258449:P576Q	P	-	2	0	0	TGFBRAP1	105256518	105256518	1.000000	0.71417	0.365000	0.25901	0.087000	0.18053	9.011000	0.93618	1.351000	0.45789	0.591000	0.81541	CCA		0.433	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2		-6.521593	-1	-1	63	63	NM_004257		3	6.639394	6.639394	58	0.04918	1	0	1	1	1	3	58	0.04918	T	105890086	G	T	105890086	3	4	6	1	0	0	0	0	1	0	0	0	15821	1348	47	5	871	5	TGFBRAP1	2	105890086	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08	51793547	105890086	137309287	4	86											
ZNF354C	30832	broad.mit.edu	37	5	178506834	178506834	+	Silent	SNP	G	G	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr5:178506834G>A	ENST00000315475.6	+	5	1707	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	467					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(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GAGAGAAACCGTATCAGTGTA	0.393																																						ENST00000315475.6											0			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(1399-1401)ccG>ccA	zinc finger protein 354C						72	79	77					5																	178506834		2203	4300	6503	SO:0001819	synonymous_variant	30832			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506834G>A			CCDS4443.1	CCDS4443.1	5q35	2013-01-08			2013-01-08			ENSG00000177932	ENSG00000177932	ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	16736	16736	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10786630	10786630	Standard	Standard	NM_014594	NM_014594		Approved	KID3	uc003mju.3	uc003mju.3	Q86Y25	Q86Y25	OTTHUMG00000130888	OTTHUMG00000130888	ENST00000315475.6:c.1401G>A	5.37:g.178506834G>A				p.P467P	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1707	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	467		Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	37	c.1401G>A	CCDS4443.1																																																																																									0.393	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		57.109542	-3	-3	63	63			19	58.268974	58.268974	36	0.345455	0	0	0	1	0	19	36	0.345455	A	178506834	G	A	178506834	2	1	6	1	0	0	0	0	0	0	0	1	17863	1132	40	1		1	ZNF354C	5	178506834	Silent	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		178506834	2408426	5	87											
KIAA1949	170954	broad.mit.edu	37	6	30653733	30653733	+	Silent	SNP	G	G	T			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr6:30653733G>T	ENST00000274853.3	-	1	1939	c.63C>A	c.(61-63)tcC>tcA	p.S21S	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Silent_p.S21S|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	21						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGCCTCGAACGGACGCCTCCT	0.672																																						ENST00000274853.3											0										c.(61-63)tcC>tcA	protein phosphatase 1, regulatory subunit 18						104	125	118					6																	30653733		1267	2530	3797	SO:0001819	synonymous_variant	170954				cytoplasm|cytoskeleton	actin binding	g.chr6:30653733G>T	AK097089	AK097089	CCDS43444.1	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	29413	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	610990	"KIAA1949"	KIAA1949	"KIAA1949"	KIAA1949		11853319	11853319	Standard	Standard	NM_001134870	NM_001134870		Approved	phostensin	uc003nra.3	uc003nra.3	Q6NYC8	Q6NYC8	OTTHUMG00000031237	OTTHUMG00000031237	ENST00000274853.3:c.63C>A	6.37:g.30653733G>T			PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Silent_p.S21S	p.S21S	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	1939	-			21		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Silent	SNP	ENST00000274853.3	37	c.63C>A	CCDS43444.1																																																																																									0.672	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2		208.684235	-32	-32	146	146	NM_133471		68	208.690543	208.690543	66	0.507463	1	0	1.12115e-39	1	1.41619e-39	68	66	0.507463	T	30653733	G	T	30653733	2	4	6	1	0	0	0	0	0	0	0	1	8263	1103	39	5		5	KIAA1949	6	30653733	Silent	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		30653733	140461334	6	88											
PPP1R3A	5506	broad.mit.edu	37	7	113517782	113517782	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr7:113517782T>C	ENST00000284601.3	-	4	3433	c.3365A>G	c.(3364-3366)aAg>aGg	p.K1122R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1122					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						CTGAGGTTACTTCTTTTTGAC	0.383																																						ENST00000284601.3											0			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						c.(3364-3366)aAg>aGg	protein phosphatase 1, regulatory subunit 3A						95	96	96					7																	113517782		2203	4299	6502	SO:0001583	missense	5506			glycogen metabolic process	integral to membrane		g.chr7:113517782T>C	AF024578	AF024578	CCDS5759.1	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	9291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	7926294	Standard	Standard	NM_002711	NM_002711		Approved	GM	uc010ljy.1	uc010ljy.1	Q16821	Q16821	OTTHUMG00000156944	OTTHUMG00000156944	ENST00000284601.3:c.3365A>G	7.37:g.113517782T>C	ENSP00000284601:p.Lys1122Arg			p.K1122R	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	3433	-			1122		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3365A>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392859	0.62066	.	.	ENSG00000154415	ENST00000284601	T	0.29142	1.58	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.115334	0.43416	D	0.000571	T	0.42449	0.1203	L	0.27053	0.805	0.30118	N	0.805949	D	0.76494	0.999	D	0.66084	0.941	T	0.44081	-0.9351	10	0.72032	D	0.01	.	16.0249	0.80536	0.0:0.0:0.0:1.0	.	1122	Q16821	PPR3A_HUMAN	R	1122	ENSP00000284601:K1122R	ENSP00000284601:K1122R	K	-	2	0	0	PPP1R3A	113305018	113305018	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.249000	0.65427	2.181000	0.69327	0.528000	0.53228	AAG		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1		-7.029345	-6	-6	108	108	NM_002711		3	6.417819	6.417819	59	0.048387	0	0	0	1	0	3	59	0.048387	C	113517782	T	C	113517782	3	2	6	1	0	0	0	0	1	0	0	0	12371	1609	56	4	7	4	PPP1R3A	7	113517782	Missense_Mutation	SNP	T	TCGA-V4-A9E8-01A-11D-A39W-08		113517782	45620881	7	89											
SLC7A2	6542	broad.mit.edu	37	8	17417930	17417930	+	Silent	SNP	C	C	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr8:17417930C>A	ENST00000494857.1	+	10	1610	c.1392C>A	c.(1390-1392)tcC>tcA	p.S464S	SLC7A2_ENST00000004531.10_Silent_p.S504S|SLC7A2_ENST00000398090.3_Silent_p.S503S|SLC7A2_ENST00000470360.1_Silent_p.S503S|SLC7A2_ENST00000522656.1_Silent_p.S464S	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	464					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)	AGAGTGAGTCCCAGGTCACCA	0.552																																						ENST00000470360.1											0			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1507-1509)tcC>tcA	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						122	114	116					8																	17417930		2203	4300	6503	SO:0001819	synonymous_variant	6542			cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17417930C>A	D29990	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			2013-05-22			ENSG00000003989	ENSG00000003989	ENSG00000003989	ENSG00000003989		"Solute carriers"	"Solute carriers"	11060	11060	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601872	601872		ATRC2		ATRC2		8954799	8954799	Standard	Standard	NM_001164771	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	uc011kye.2	P52569	P52569	OTTHUMG00000130819	OTTHUMG00000130819	ENST00000494857.1:c.1392C>A	8.37:g.17417930C>A			SLC7A2_ENST00000522656.1_Silent_p.S464S|SLC7A2_ENST00000004531.10_Silent_p.S504S|SLC7A2_ENST00000398090.3_Silent_p.S503S|SLC7A2_ENST00000494857.1_Silent_p.S464S	p.S503S			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	11	1626	+			464		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1509C>A	CCDS34852.1																																																																																									0.552	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3		128.631706	-9	-9	59	59	NM_003046		39	128.65808	128.65808	36	0.52	1	0	5.71845e-15	1	6.86214e-15	39	36	0.52	A	17417930	C	A	17417930	2	1	6	1	0	0	0	0	0	0	0	1	14697	610	22	5		5	SLC7A2	8	17417930	Silent	SNP	C	TCGA-V4-A9E8-01A-11D-A39W-08		17417930	128946092	8	90											
ADAMTSL1	92949	broad.mit.edu	37	9	18721576	18721576	+	Missense_Mutation	SNP	G	G	A	rs200488775		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr9:18721576G>A	ENST00000380548.4	+	15	2258	c.1919G>A	c.(1918-1920)cGg>cAg	p.R640Q	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R640Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	640	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAACAGACTCGGGAGCCTGCT	0.592																																						ENST00000380548.4											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1918-1920)cGg>cAg	ADAMTS-like 1						93	92	92					9																	18721576		2203	4300	6503	SO:0001583	missense	92949				proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18721576G>A	AF176313	AF176313	CCDS6485.1, CCDS47954.1	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			2013-01-11			ENSG00000178031	ENSG00000178031	ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	"Immunoglobulin superfamily / I-set domain containing"	14632	14632	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"punctin"	"punctin"	609198	609198	"chromosome 9 open reading frame 94"	C9orf94	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	9628581, 11805097	Standard	Standard	NM_001040272	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	uc003zne.4	Q8N6G6	Q8N6G6	OTTHUMG00000019604	OTTHUMG00000019604	ENST00000380548.4:c.1919G>A	9.37:g.18721576G>A	ENSP00000369921:p.Arg640Gln		ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R640Q	p.R640Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	15	2258	+			640	TSP type-1 5.	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1919G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	4.264	0.048046	0.08243	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.62788	0.06;-0.0	5.86	4.02	0.46733	5.86	4.02	0.46733	.	0.071793	0.08080	U	1.000000	T	0.43010	0.1228	N	0.05534	-0.03	0.80722	D	1	B	0.18013	0.025	B	0.12156	0.007	T	0.09552	-1.0669	10	0.07030	T	0.85	.	15.3244	0.74147	0.128:0.0:0.872:0.0	.	640	Q8N6G6	ATL1_HUMAN	Q	640	ENSP00000369921:R640Q;ENSP00000276935:R640Q	ENSP00000276935:R640Q	R	+	2	0	0	ADAMTSL1	18711576	18711576	1.000000	0.71417	0.841000	0.33234	0.846000	0.48090	5.311000	0.65786	0.407000	0.25591	-0.813000	0.03139	CGG		0.592	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		93.079132	-6	-6	122	122			30	94.157669	94.157669	50	0.375	0	0	0	1	0	30	50	0.375	A	18721576	G	A	18721576	3	1	6	1	0	0	0	0	1	0	0	0	274	1116	39	1	1981	1	ADAMTSL1	9	18721576	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		18721576	122491855	9	91											
CBARA1	10367	broad.mit.edu	37	10	74322810	74322810	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr10:74322810T>A	ENST00000361114.5	-	3	269	c.173A>T	c.(172-174)gAa>gTa	p.E58V	MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.E58V|MICU1_ENST00000398761.4_Missense_Mutation_p.E58V	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	58					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TGGTGGAGATTCTGCATGGGC	0.388																																						ENST00000398761.4											0										c.(172-174)gAa>gTa	mitochondrial calcium uptake 1						130	109	116					10																	74322810		1863	4109	5972	SO:0001583	missense	10367			calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74322810T>A	Y17711	Y17711	CCDS55714.1, CCDS55715.1	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745	ENSG00000107745	ENSG00000107745		"EF-hand domain containing"	"EF-hand domain containing"	1530	1530	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605084	605084	"calcium binding atopy-related autoantigen 1"	CBARA1	"calcium binding atopy-related autoantigen 1"	CBARA1		9806765, 20693986	9806765, 20693986	Standard	Standard	NM_006077	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	uc001jtb.2	Q9BPX6	Q9BPX6	OTTHUMG00000018437	OTTHUMG00000018437	ENST00000361114.5:c.173A>T	10.37:g.74322810T>A	ENSP00000354415:p.Glu58Val		MICU1_ENST00000361114.5_Missense_Mutation_p.E58V|MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.E58V	p.E58V			Q9BPX6	MICU1_HUMAN			3	305	-			58		A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.173A>T	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788425	0.70337	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	D;D;D	0.82255	-1.59;-1.59;-1.59	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.047096	0.85682	D	0.000000	D	0.84447	0.5474	L	0.58101	1.795	0.80722	D	1	D	0.59357	0.985	P	0.54590	0.756	T	0.81099	-0.1086	10	0.11794	T	0.64	.	13.2708	0.60159	0.0:0.0:0.0:1.0	.	58	Q9BPX6	MICU1_HUMAN	V	58	ENSP00000354415:E58V;ENSP00000381745:E58V;ENSP00000384068:E58V	ENSP00000354415:E58V	E	-	2	0	0	MICU1	73992816	73992816	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	4.116000	0.57871	2.216000	0.71823	0.460000	0.39030	GAA		0.388	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1		13.769143	-1	-1	31	31	NM_006077		5	14.269912	14.269912	11	0.3125	0	0	0	1	0	5	11	0.3125	A	74322810	T	A	74322810	3	1	6	1	0	0	0	0	1	0	0	0	2696	1783	62	5	1303	5	CBARA1	10	74322810	Missense_Mutation	SNP	T	TCGA-V4-A9E8-01A-11D-A39W-08		74322810	61211937	10	92											
PLCE1	51196	broad.mit.edu	37	10	95891952	95891952	+	Missense_Mutation	SNP	G	G	C	rs145451189	byFrequency	TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr10:95891952G>C	ENST00000371380.3	+	2	1463	c.1228G>C	c.(1228-1230)Gaa>Caa	p.E410Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.E102Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.E410Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.E102Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	410					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTGAGAAGAGAAGAAACAGA	0.408																																						ENST00000371380.3											0			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(1228-1230)Gaa>Caa	phospholipase C, epsilon 1						122	120	120					10																	95891952		1953	4156	6109	SO:0001583	missense	51196			activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95891952G>C			CCDS41552.1, CCDS53555.1	CCDS41552.1, CCDS53555.1	10q23	2010-02-22			2010-02-22			ENSG00000138193	ENSG00000138193	ENSG00000138193	ENSG00000138193	3.1.4.11			17175	17175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nephrosis type 3"	"nephrosis type 3"	608414	608414						11022047, 11022048	11022047, 11022048	Standard	Standard	NM_016341	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	uc001kjk.3	Q9P212	Q9P212	OTTHUMG00000018789	OTTHUMG00000018789	ENST00000371380.3:c.1228G>C	10.37:g.95891952G>C	ENSP00000360431:p.Glu410Gln		PLCE1_ENST00000371385.3_Missense_Mutation_p.E102Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.E410Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.E102Q	p.E410Q			Q9P212	PLCE1_HUMAN			2	1463	+		Colorectal(252;0.0458)			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1228G>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799554	0.50208	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.08	5.08	0.68730	5.08	5.08	0.68730	Ras guanine nucleotide exchange factor, domain (1);	0.306355	0.27159	N	0.020644	T	0.73094	0.3543	N	0.24115	0.695	0.31020	N	0.71818	B;D;P	0.58620	0.031;0.983;0.454	B;P;B	0.54499	0.01;0.754;0.107	T	0.75991	-0.3122	10	0.62326	D	0.03	.	16.0129	0.80417	0.0:0.0:1.0:0.0	.	410;102;410	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	410;410;102;102	ENSP00000260766:E410Q;ENSP00000360431:E410Q;ENSP00000360438:E102Q;ENSP00000360426:E102Q	ENSP00000260766:E410Q	E	+	1	0	0	PLCE1	95881942	95881942	1.000000	0.71417	0.966000	0.40874	0.873000	0.50193	2.203000	0.42752	2.512000	0.84698	0.563000	0.77884	GAA		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3		20.881245	16	16	49	49	NM_016341		8	23.246658	23.246658	27	0.228571	0	0	0	1	0	8	27	0.228571	C	95891952	G	C	95891952	3	2	6	1	0	0	0	0	1	0	0	0	12034	943	33	5	1520	5	PLCE1	10	95891952	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08	21569142	95891952	39642795	11	93											
PLCB2	5330	broad.mit.edu	37	15	40594218	40594218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr15:40594218delA	ENST00000260402.3	-	7	771	c.522delT	c.(520-522)tttfs	p.F174fs	PLCB2_ENST00000456256.2_Frame_Shift_Del_p.F174fs|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Frame_Shift_Del_p.F174fs|PLCB2_ENST00000557821.1_Frame_Shift_Del_p.F174fs	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	174					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGTCAGCAGGAAACATCTGGA	0.582																																						ENST00000260402.3											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(520-522)tttfs	phospholipase C, beta 2						49	54	53					15																	40594218		1978	4158	6136	SO:0001589	frameshift_variant	5330			activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40594218delA			CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			2012-01-23			ENSG00000137841	ENSG00000137841	ENSG00000137841	ENSG00000137841	3.1.4.11			9055	9055	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604114	604114						1644792, 9925923	1644792, 9925923	Standard	Standard	XM_005254448	XM_005254448		Approved	FLJ38135	uc001zld.3	uc001zld.3	Q00722	Q00722	OTTHUMG00000172412	OTTHUMG00000172412	ENST00000260402.3:c.522delT	15.37:g.40594218delA	ENSP00000260402:p.Phe174fs		PLCB2_ENST00000456256.2_Frame_Shift_Del_p.F174fs|PLCB2_ENST00000543785.2_Frame_Shift_Del_p.F174fs|PLCB2_ENST00000557821.1_Frame_Shift_Del_p.F174fs	p.F174fs	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	7	771	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	174		A8K6J2|B9EGH5	Frame_Shift_Del	DEL	ENST00000260402.3	37	c.522delT	CCDS42020.1																																																																																									0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1	.	.	-5	-5	46	46			8			7	0.53						8	7	0.53	-	40594218	A	-	40594218	7	5	6	1	0	1	0	1	0	0	0	0	12028	243	9	0	3139	0	PLCB2	15	40594218	Frame_Shift_Del	DEL	A	TCGA-V4-A9E8-01A-11D-A39W-08		40594218	61937174	12	94											
NACA2	342538	broad.mit.edu	37	17	59668490	59668490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr17:59668490G>A	ENST00000521764.1	-	1	73	c.52C>T	c.(52-54)Cag>Tag	p.Q18*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	18					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GCCTGGGACTGCGGCAACTCC	0.567																																						ENST00000521764.1											0			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(52-54)Cag>Tag	nascent polypeptide-associated complex alpha subunit 2						77	68	71					17																	59668490		2203	4300	6503	SO:0001587	stop_gained	342538			protein transport	cytoplasm|nucleus		g.chr17:59668490G>A	BC062710	BC062710	CCDS11630.1	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506		ENSG00000253506				23290	23290	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"alpha-NAC protein"	"alpha-NAC protein"	609274	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	12406326	Standard	Standard	NM_199290	NM_199290		Approved	MGC71999	uc002izj.2	uc002izj.2	Q9H009	Q9H009			ENST00000521764.1:c.52C>T	17.37:g.59668490G>A	ENSP00000427802:p.Gln18*			p.Q18*	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	73	-	all_epithelial(1;3.12e-14)		18		Q2VIR9	Nonsense_Mutation	SNP	ENST00000521764.1	37	c.52C>T	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481108	0.84747	.	.	ENSG00000253506	ENST00000521764	.	.	.	0.753	0.753	0.18404	0.753	0.753	0.18404	.	0.101993	0.39615	U	0.001318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	X	18	.	.	Q	-	1	0	0	NACA2	57023272	57023272	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	2.777000	0.47717	0.702000	0.31825	0.411000	0.27672	CAG		0.567	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2		52.137059	1	1	65	65	NM_199290		18	52.795909	52.795909	30	0.375	0	0	0	1	0	18	30	0.375	A	59668490	G	A	59668490	4	1	6	1	0	0	0	0	0	1	0	0	10134	1328	46	2	599	2	NACA2	17	59668490	Nonsense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		59668490	21526720	13	95											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		31.925513	-11	-11	70	70	NM_002067		11	32.731604	32.731604	22	0.333333	0	0	0	1	0	11	22	0.333333	T	3118942	A	T	3118942	3	4	6	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9E8-01A-11D-A39W-08		3118942	56010041	14	96											
SNAPC2	6618	broad.mit.edu	37	19	7987612	7987612	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr19:7987612T>C	ENST00000221573.6	+	5	1019	c.968T>C	c.(967-969)cTg>cCg	p.L323P	SNAPC2_ENST00000597584.1_Missense_Mutation_p.L86P	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	323					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CTGGTGCCCCTGGAGCTTCTG	0.697																																						ENST00000221573.6											0			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(967-969)cTg>cCg	small nuclear RNA activating complex, polypeptide 2, 45kDa						57	76	69					19																	7987612		2190	4288	6478	SO:0001583	missense	6618			snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987612T>C	U44898	U44898	CCDS12190.1	CCDS12190.1	19p13	2008-07-22	2002-08-29		2008-07-22	2002-08-29			ENSG00000104976		ENSG00000104976				11135	11135	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605076	605076	"small nuclear RNA activating complex, polypeptide 2, 45kD"		"small nuclear RNA activating complex, polypeptide 2, 45kD"			8633057	8633057	Standard	Standard	NM_003083	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	uc002miw.2	Q13487	Q13487			ENST00000221573.6:c.968T>C	19.37:g.7987612T>C	ENSP00000221573:p.Leu323Pro		SNAPC2_ENST00000597584.1_Missense_Mutation_p.L86P	p.L323P	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			5	1019	+			323		B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.968T>C	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	t	15.57	2.874133	0.51695	.	.	ENSG00000104976	ENST00000221573	T	0.60299	0.2	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.104561	0.39083	N	0.001480	T	0.72236	0.3435	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75224	-0.3393	10	0.87932	D	0	-13.2986	10.2213	0.43198	0.0:0.0:0.0:1.0	.	323	Q13487	SNPC2_HUMAN	P	323	ENSP00000221573:L323P	ENSP00000221573:L323P	L	+	2	0	0	SNAPC2	7893612	7893612	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	2.797000	0.47877	1.915000	0.55452	0.370000	0.22315	CTG		0.697	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1		-9.470205	-20	-20	107	107	NM_003083		4	7.994886	7.994886	77	0.049383	0	0	0	1	0	4	77	0.049383	C	7987612	T	C	7987612	3	2	6	1	0	0	0	0	1	0	0	0	14835	1580	55	4	986	4	SNAPC2	19	7987612	Missense_Mutation	SNP	T	TCGA-V4-A9E8-01A-11D-A39W-08	4868670	7987612	51141371	15	97											
MN1	4330	broad.mit.edu	37	22	28194881	28194883	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr22:28194881_28194883delGCT	ENST00000302326.4	-	1	2603_2605	c.1649_1651delAGC	c.(1648-1653)cagcgc>cgc	p.Q550del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	550	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGTTTTGGCgctgctgctgctg	0.645			T	ETV6	"AML, meningioma"																																	ENST00000302326.4		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1648-1653)cagcgc>cgc	meningioma (disrupted in balanced translocation) 1			88,3382		14,60,1661						3.4	1			5	216,6858		15,186,3336	no	coding	MN1	NM_002430.2		29,246,4997	A1A1,A1R,RR		3.0534,2.536,2.8832				304,10240				SO:0001651	inframe_deletion	4330					binding	g.chr22:28194881_28194883delGCT	X82209	X82209	CCDS42998.1	CCDS42998.1	22q12.1	2010-09-29			2010-09-29			ENSG00000169184	ENSG00000169184	ENSG00000169184	ENSG00000169184				7180	7180	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	"probable tumor suppressor protein MN1"	156100	156100	"meningioma chromosome region"	MGCR	"meningioma chromosome region"	MGCR		7731706, 12569362	7731706, 12569362	Standard	Standard	NM_002430	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	uc003adj.3	Q10571	Q10571	OTTHUMG00000150975	OTTHUMG00000150975	ENST00000302326.4:c.1649_1651delAGC	22.37:g.28194890_28194892delGCT	ENSP00000304956:p.Gln550del			p.Q550del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2603_2605	-			550	Poly-Gln.	A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1649_1651delAGC	CCDS42998.1																																																																																									0.645	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	.	.	2	2	4	4	NM_002430		3			3	0.5						3	3	0.5	-	28194883	GCT	-	28194881	7	5	6	1	0	1	0	1	0	0	0	0	9673	1087	38	0	2319	0	MN1	22	28194881	In_Frame_Del	DEL	GCT	TCGA-V4-A9E8-01A-11D-A39W-08		28194881	23109685	16	98											
KDM6A	7403	broad.mit.edu	37	X	44918345	44918345	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chrX:44918345A>G	ENST00000377967.4	+	11	1011	c.970A>G	c.(970-972)Ata>Gta	p.I324V	KDM6A_ENST00000536777.1_Missense_Mutation_p.I324V|KDM6A_ENST00000543216.1_Missense_Mutation_p.I324V|KDM6A_ENST00000382899.4_Missense_Mutation_p.I324V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	324	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATGGTGTTCAATAGGGTAAGC	0.318			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(970-972)Ata>Gta	lysine (K)-specific demethylase 6A						91	80	84					X																	44918345		2203	4300	6503	SO:0001583	missense	7403			histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44918345A>G	AF000992	AF000992	CCDS14265.1	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	12637	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300128	300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	9499428, 9381176	Standard	Standard	XM_005272655	XM_005272655		Approved		uc004dge.4	uc004dge.4	O15550	O15550	OTTHUMG00000021402	OTTHUMG00000021402	ENST00000377967.4:c.970A>G	X.37:g.44918345A>G	ENSP00000367203:p.Ile324Val		KDM6A_ENST00000536777.1_Missense_Mutation_p.I324V|KDM6A_ENST00000543216.1_Missense_Mutation_p.I324V|KDM6A_ENST00000382899.4_Missense_Mutation_p.I324V	p.I324V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			11	1011	+			324		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.970A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.438109	0.62955	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.52754	2.17;2.17;0.65;2.17	5.1	5.1	0.69264	5.1	5.1	0.69264	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	M	0.78801	2.425	0.47094	D	0.99931	P;B;P;P;P	0.47604	0.65;0.348;0.514;0.898;0.543	P;B;P;D;P	0.68192	0.743;0.391;0.525;0.956;0.525	T	0.73313	-0.4022	10	0.87932	D	0	-13.455	14.1992	0.65690	1.0:0.0:0.0:0.0	.	324;324;324;324;324	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	V	324	ENSP00000367203:I324V;ENSP00000437405:I324V;ENSP00000372355:I324V;ENSP00000443078:I324V	ENSP00000367203:I324V	I	+	1	0	0	KDM6A	44803289	44803289	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.910000	0.92685	1.799000	0.52666	0.417000	0.27973	ATA		0.318	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		88.292649	-40	-40	39	39	NM_021140		25	90.625249	90.625249	7	0.78125	0	0	0	1	0	25	7	0.78125	G	44918345	A	G	44918345	3	3	6	1	0	0	0	0	1	0	0	0	8137	101	4	4	1012	4	KDM6A	23	44918345	Missense_Mutation	SNP	A	TCGA-V4-A9E8-01A-11D-A39W-08		44918345	110352215	17	99											
MPP1	4354	broad.mit.edu	37	X	154014531	154014531	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chrX:154014531C>T	ENST00000369534.3	-	6	772	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000393531.1_Missense_Mutation_p.G189S|MPP1_ENST00000413259.3_Missense_Mutation_p.G179S	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	209	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGGAGGAGCCTTCCACCCGT	0.532																																						ENST00000413259.3											0			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(535-537)Ggc>Agc	membrane protein, palmitoylated 1, 55kDa						217	190	199					X																	154014531		2203	4300	6503	SO:0001583	missense	4354			regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154014531C>T			CCDS14762.1, CCDS55544.1, CCDS55545.1	CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830	ENSG00000130830	ENSG00000130830				7219	7219	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			305360	305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	1713685	Standard	Standard	NM_002436	NM_002436		Approved	PEMP	uc004fmp.2	uc004fmp.2	Q00013	Q00013	OTTHUMG00000024244	OTTHUMG00000024244	ENST00000369534.3:c.625G>A	X.37:g.154014531C>T	ENSP00000358547:p.Gly209Ser		MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000369534.3_Missense_Mutation_p.G209S|MPP1_ENST00000393531.1_Missense_Mutation_p.G189S	p.G179S	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN			7	927	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		209	SH3.	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.535G>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.167022	0.57476	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000453245;ENST00000393529;ENST00000428488	T;T;D;T;T;T	0.82433	1.86;1.86;-1.61;1.86;1.86;1.86	5.1	4.23	0.50019	5.1	4.23	0.50019	Src homology-3 domain (3);Variant SH3 (1);	0.144197	0.64402	D	0.000006	T	0.77519	0.4142	L	0.56396	1.775	0.46149	D	0.99889	B;B;B;B;B	0.25521	0.034;0.001;0.128;0.004;0.006	B;B;B;B;B	0.24269	0.026;0.014;0.052;0.008;0.014	T	0.73987	-0.3809	10	0.34782	T	0.22	.	9.1221	0.36793	0.0:0.8948:0.0:0.1052	.	192;179;83;189;209	B4E325;B4DZV5;C9J9J4;G3XAI1;Q00013	.;.;.;.;EM55_HUMAN	S	209;179;189;83;163;106	ENSP00000358547:G209S;ENSP00000400155:G179S;ENSP00000377165:G189S;ENSP00000410888:G83S;ENSP00000377163:G163S;ENSP00000391701:G106S	ENSP00000358547:G209S	G	-	1	0	0	MPP1	153667725	153667725	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.215000	0.58534	2.103000	0.63969	0.513000	0.50165	GGC		0.532	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3		-6.298331	-120	-120	135	135	NM_002436		5	11.578563	11.578563	82	0.057471	0	0	0	1	0	5	82	0.057471	T	154014531	C	T	154014531	3	4	6	1	0	0	0	0	1	0	0	0	9733	681	24	3	803	3	MPP1	23	154014531	Missense_Mutation	SNP	C	TCGA-V4-A9E8-01A-11D-A39W-08	109096186	154014531	1256029	18	100											
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95	92	93					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		64.937226	42	42	96	96			22	65.586685	65.586685	35	0.385965	0	0	0	1	0	22	35	0.385965	T	198267483	C	T	198267483	3	4	7	1	0	0	0	0	1	0	0	0	14149	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08		198267483	44931890	1	101											
ADD1	118	broad.mit.edu	37	4	2877722	2877722	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr4:2877722G>C	ENST00000398129.1	+	1	100	c.80G>C	c.(79-81)cGa>cCa	p.R27P	ADD1_ENST00000503455.2_Missense_Mutation_p.R27P|ADD1_ENST00000264758.7_Missense_Mutation_p.R27P|ADD1_ENST00000513328.2_Missense_Mutation_p.R27P|ADD1_ENST00000398125.1_Missense_Mutation_p.R27P|ADD1_ENST00000355842.3_Missense_Mutation_p.R27P|ADD1_ENST00000446856.1_Missense_Mutation_p.R27P|ADD1_ENST00000398123.2_Missense_Mutation_p.R27P			P35611	ADDA_HUMAN	adducin 1 (alpha)	27					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACTTCGACCGAGTAGATGAG	0.527																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000355842.3											0			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(79-81)cGa>cCa	adducin 1 (alpha)						135	134	135					4																	2877722		2203	4300	6503	SO:0001583	missense	118			actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2877722G>C	L07261	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			2009-04-22			ENSG00000087274	ENSG00000087274	ENSG00000087274	ENSG00000087274				243	243	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			102680	102680						1840603	1840603	Standard	Standard	NM_001119	NM_001119		Approved		uc003gfq.3	uc003gfq.3	P35611	P35611	OTTHUMG00000122080	OTTHUMG00000122080	ENST00000398129.1:c.80G>C	4.37:g.2877722G>C	ENSP00000381197:p.Arg27Pro		ADD1_ENST00000503455.2_Missense_Mutation_p.R27P|ADD1_ENST00000398123.2_Missense_Mutation_p.R27P|ADD1_ENST00000264758.7_Missense_Mutation_p.R27P|ADD1_ENST00000398129.1_Missense_Mutation_p.R27P|ADD1_ENST00000513328.2_Missense_Mutation_p.R27P|ADD1_ENST00000446856.1_Missense_Mutation_p.R27P|ADD1_ENST00000398125.1_Missense_Mutation_p.R27P	p.R27P			P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	3	943	+			27		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.80G>C	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382494	0.82792	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.99	4.99	0.66335	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998;1.0;0.999	D;D;D;D;D;D;D	0.87578	0.996;0.996;0.998;0.996;0.995;0.998;0.983	T	0.65092	-0.6252	10	0.72032	D	0.01	-12.8883	18.4459	0.90683	0.0:0.0:1.0:0.0	.	27;27;27;27;27;27;27	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	P	27	ENSP00000264758:R27P;ENSP00000399828:R27P;ENSP00000381193:R27P;ENSP00000421918:R27P;ENSP00000421907:R27P;ENSP00000426700:R27P;ENSP00000423024:R27P;ENSP00000348100:R27P;ENSP00000381191:R27P;ENSP00000381197:R27P	ENSP00000264758:R27P	R	+	2	0	0	ADD1	2847520	2847520	1.000000	0.71417	0.979000	0.43373	0.571000	0.35966	7.529000	0.81952	2.597000	0.87782	0.591000	0.81541	CGA		0.527	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1		99.413678	24	24	106	106	NM_014189		31	99.905056	99.905056	44	0.413333	0	0	0	1	0	31	44	0.413333	C	2877722	G	C	2877722	3	2	7	1	0	0	0	0	1	0	0	0	304	1058	37	5	82	5	ADD1	4	2877722	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		2877722	188276554	2	102											
CENPE	1062	broad.mit.edu	37	4	104062907	104062907	+	Splice_Site	SNP	C	C	G			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr4:104062907C>G	ENST00000265148.3	-	35	5552	c.5463G>C	c.(5461-5463)aaG>aaC	p.K1821N	CENPE_ENST00000380026.3_Splice_Site_p.K1796N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATAAAAATACCTTTTCTTGTA	0.313																																						ENST00000265148.3											0			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(5461-5463)aaG>aaC	centromere protein E, 312kDa						67	64	65					4																	104062907		2202	4298	6500	SO:0001630	splice_region_variant	1062			blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104062907C>G	Z15005	Z15005	CCDS34042.1, CCDS68768.1	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29		2013-11-05	2002-08-29			ENSG00000138778		ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	1856	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	"protein phosphatase 1, regulatory subunit 61"	117143	117143	"centromere protein E (312kD)"		"centromere protein E (312kD)"			7851898	7851898	Standard	Standard	NM_001286734	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	uc003hxb.1	Q02224	Q02224			ENST00000265148.3:c.5463+1G>C	4.37:g.104062907C>G			CENPE_ENST00000380026.3_Splice_Site_p.K1796N	p.K1821N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	35	5552	-			1821		A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37	c.5463G>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902313	0.52227	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71341	-0.56;-0.56	4.01	4.01	0.46588	4.01	4.01	0.46588	.	.	.	.	.	D	0.82323	0.5012	M	0.78801	2.425	0.36445	D	0.865731	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.94	D	0.85866	0.1413	8	.	.	.	.	11.5291	0.50597	0.0:1.0:0.0:0.0	.	1796;1821	Q02224-3;Q02224	.;CENPE_HUMAN	N	1821;1821;1796	ENSP00000265148:K1821N;ENSP00000369365:K1796N	.	K	-	3	2	2	CENPE	104282356	104282356	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.531000	0.53546	2.069000	0.61940	0.643000	0.83706	AAG		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			27.976926	43	43	91	91		Missense_Mutation	9	28.107919	28.107919	6	0.6	0	0	0	1	0	9	6	0.6	G	104062907	C	G	104062907	5	3	7	1	0	0	0	0	0	0	1	0	3230	695	24	5	2702	5	CENPE	4	104062907	Splice_Site	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08	101185185	104062907	87091369	3	103											
BTN2A1	11120	broad.mit.edu	37	6	26458919	26458919	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr6:26458919C>A	ENST00000312541.5	+	2	303	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000429381.1_Missense_Mutation_p.L19I|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L19I	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	19					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCTCCTCCTCCTCCTCAGCCT	0.582																																						ENST00000429381.1											0			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(55-57)Ctc>Atc	butyrophilin, subfamily 2, member A1						157	121	134					6																	26458919		2203	4300	6503	SO:0001583	missense	11120			lipid metabolic process	integral to plasma membrane		g.chr6:26458919C>A	U90543	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			2014-01-14			ENSG00000112763	ENSG00000112763	ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	1136	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613590	613590						9382921, 9149941	9382921, 9149941	Standard	Standard	NM_007049	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	uc003nib.2	Q7KYR7	Q7KYR7	OTTHUMG00000014457	OTTHUMG00000014457	ENST00000312541.5:c.55C>A	6.37:g.26458919C>A	ENSP00000312158:p.Leu19Ile		BTN2A1_ENST00000312541.5_Missense_Mutation_p.L19I|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L19I	p.L19I			Q7KYR7	BT2A1_HUMAN			2	267	+			19		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.55C>A	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066627	0.36470	.	.	ENSG00000112763	ENST00000312541;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T	0.80033	-0.63;-1.33;-1.33	3.03	-6.06	0.02165	3.03	-6.06	0.02165	Immunoglobulin-like (1);	2.830930	0.01625	N	0.023249	T	0.60945	0.2308	M	0.73319	2.225	0.09310	N	0.999997	D;P	0.54397	0.966;0.908	P;B	0.46144	0.505;0.277	T	0.64512	-0.6390	10	0.45353	T	0.12	.	0.458	0.00512	0.3696:0.2048:0.1227:0.3029	.	19;19	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	I	19	ENSP00000312158:L19I;ENSP00000416945:L19I;ENSP00000419043:L19I	ENSP00000265424:L19I	L	+	1	0	0	BTN2A1	26566898	26566898	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.335000	0.02662	-1.982000	0.00988	-0.516000	0.04426	CTC		0.582	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2		-15.591623	11	11	89	89	NM_007049		4	7.786387	7.786387	98	0.039216	1	0	1	1	1	4	98	0.039216	A	26458919	C	A	26458919	3	1	7	1	0	0	0	0	1	0	0	0	1560	681	24	5	57	5	BTN2A1	6	26458919	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08		26458919	144656148	4	104											
TECPR1	25851	broad.mit.edu	37	7	97858474	97858474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr7:97858474delA	ENST00000447648.2	-	16	2586	c.2287delT	c.(2287-2289)tggfs	p.W763fs	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs|TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	763					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCTGCCGCCAAAACCTGGAA	0.642																																						ENST00000447648.2											0			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2287-2289)tggfs	tectonin beta-propeller repeat containing 1						18	23	21					7																	97858474		1922	4094	6016	SO:0001589	frameshift_variant	25851				integral to membrane	protein binding	g.chr7:97858474delA			CCDS47648.1	CCDS47648.1	7q21.3	2009-01-30			2009-01-30			ENSG00000205356	ENSG00000205356	ENSG00000205356	ENSG00000205356				22214	22214	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614781	614781								Standard	Standard	NM_015395	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	uc003upg.4	Q7Z6L1	Q7Z6L1	OTTHUMG00000154273	OTTHUMG00000154273	ENST00000447648.2:c.2287delT	7.37:g.97858474delA	ENSP00000404923:p.Trp763fs		TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs|TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs	p.W763fs			Q7Z6L1	TCPR1_HUMAN			16	2586	-			763		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Frame_Shift_Del	DEL	ENST00000447648.2	37	c.2287delT	CCDS47648.1																																																																																									0.642	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	.	.	-2	-2	5	5	NM_015395		2			4	0.33						2	4	0.33	-	97858474	A	-	97858474	7	5	7	1	0	1	0	1	0	0	0	0	15740	130	5	0	1254	0	TECPR1	7	97858474	Frame_Shift_Del	DEL	A	TCGA-V4-A9E9-01A-11D-A39W-08		97858474	61280189	5	105											
CSMD3	114788	broad.mit.edu	37	8	113702197	113702197	+	Silent	SNP	A	A	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr8:113702197A>T	ENST00000297405.5	-	14	2299	c.2055T>A	c.(2053-2055)gtT>gtA	p.V685V	CSMD3_ENST00000343508.3_Silent_p.V645V|CSMD3_ENST00000455883.2_Silent_p.V581V|CSMD3_ENST00000352409.3_Silent_p.V685V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	685	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAACCTTAAAACATCACGAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5											0			breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2053-2055)gtT>gtA	CUB and Sushi multiple domains 3						168	174	172					8																	113702197		2203	4300	6503	SO:0001819	synonymous_variant	114788				integral to membrane|plasma membrane		g.chr8:113702197A>T	AY210419	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			2007-01-06			ENSG00000164796	ENSG00000164796	ENSG00000164796	ENSG00000164796				19291	19291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608399	608399								Standard	Standard	NM_052900	NM_052900		Approved		uc003ynu.3	uc003ynu.3	Q7Z407	Q7Z407	OTTHUMG00000157027	OTTHUMG00000157027	ENST00000297405.5:c.2055T>A	8.37:g.113702197A>T			CSMD3_ENST00000455883.2_Silent_p.V581V|CSMD3_ENST00000343508.3_Silent_p.V645V|CSMD3_ENST00000352409.3_Silent_p.V685V	p.V685V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			14	2299	-			685	Sushi 3.	Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2055T>A	CCDS6315.1																																																																																									0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		171.639867	99	99	289	289	NM_052900		66	183.234859	183.234859	178	0.270492	0	0	0	1	0	66	178	0.270492	T	113702197	A	T	113702197	2	4	7	1	0	0	0	0	0	0	0	1	3946	1	1	5		5	CSMD3	8	113702197	Silent	SNP	A	TCGA-V4-A9E9-01A-11D-A39W-08		113702197	32661825	6	106											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		148.366306	26	26	137	137	NM_002072		45	148.58364	148.58364	55	0.45	0	0	0	1	0	45	55	0.45	G	80409488	T	G	80409488	3	3	7	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9E9-01A-11D-A39W-08		80409488	60803943	7	107											
ZNF484	83744	broad.mit.edu	37	9	95608788	95608788	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr9:95608788A>C	ENST00000375495.3	-	5	2429	c.2281T>G	c.(2281-2283)Tca>Gca	p.S761A	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.S725A|ZNF484_ENST00000332591.6_Missense_Mutation_p.S725A|ZNF484_ENST00000395506.3_Missense_Mutation_p.S763A	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGGAGTTGTGATTTCTTAATG	0.393																																						ENST00000395505.2											0			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(2173-2175)Tca>Gca	zinc finger protein 484						130	130	130					9																	95608788		2203	4300	6503	SO:0001583	missense	83744			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608788A>C	AK091203	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			2013-01-08			ENSG00000127081	ENSG00000127081	ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	23385	23385	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001007101	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	uc004asu.2	Q5JVG2	Q5JVG2	OTTHUMG00000020236	OTTHUMG00000020236	ENST00000375495.3:c.2281T>G	9.37:g.95608788A>C	ENSP00000364645:p.Ser761Ala		ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.S763A|ZNF484_ENST00000332591.6_Missense_Mutation_p.S725A|ZNF484_ENST00000375495.3_Missense_Mutation_p.S761A	p.S725A	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	2265	-			761		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.2173T>G	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	13.44	2.237208	0.39498	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07327	3.2;4.77;4.77;3.2	2.65	1.47	0.22746	2.65	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	L	0.43646	1.37	0.09310	N	1	B;B	0.22800	0.075;0.075	B;B	0.17433	0.018;0.018	T	0.31052	-0.9957	9	0.48119	T	0.1	.	6.5244	0.22293	0.7846:0.0:0.0:0.2154	.	763;761	B4DRI2;Q5JVG2	.;ZN484_HUMAN	A	725;763;761;725	ENSP00000378881:S725A;ENSP00000378882:S763A;ENSP00000364645:S761A;ENSP00000364646:S725A	ENSP00000364646:S725A	S	-	1	0	0	ZNF484	94648609	94648609	0.000000	0.05858	0.995000	0.50966	0.990000	0.78478	-2.050000	0.01404	0.409000	0.25649	0.450000	0.29827	TCA		0.393	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2		125.674604	25	25	183	183	XM_046861		40	126.9799	126.9799	65	0.380952	0	0	0	1	0	40	65	0.380952	C	95608788	A	C	95608788	3	2	7	1	0	0	0	0	1	0	0	0	17934	333	12	5	281	5	ZNF484	9	95608788	Missense_Mutation	SNP	A	TCGA-V4-A9E9-01A-11D-A39W-08	15199300	95608788	45604643	8	108											
DNAJC1	64215	broad.mit.edu	37	10	22055195	22055195	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr10:22055195G>C	ENST00000376980.3	-	10	1432	c.1142C>G	c.(1141-1143)tCc>tGc	p.S381C	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	381					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTCACCTGGGGAGCAGGTCAC	0.353																																						ENST00000376980.3											0			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1141-1143)tCc>tGc	DnaJ (Hsp40) homolog, subfamily C, member 1						144	150	148					10																	22055195		2203	4300	6503	SO:0001583	missense	64215			negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22055195G>C	AK026062	AK026062	CCDS7136.1	CCDS7136.1	10p11.23	2011-09-02			2011-09-02			ENSG00000136770	ENSG00000136770	ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	"Heat shock proteins / DNAJ (HSP40)"	20090	20090	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611207	611207								Standard	Standard	NM_022365	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	uc001irc.3	Q96KC8	Q96KC8	OTTHUMG00000017800	OTTHUMG00000017800	ENST00000376980.3:c.1142C>G	10.37:g.22055195G>C	ENSP00000366179:p.Ser381Cys		DNAJC1_ENST00000483085.1_5'UTR	p.S381C	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			10	1432	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	381		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1142C>G	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154020	0.78114	.	.	ENSG00000136770	ENST00000376980	T	0.29655	1.56	5.24	5.24	0.73138	5.24	5.24	0.73138	Homeodomain-like (1);	0.229461	0.43747	D	0.000523	T	0.45994	0.1370	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.993	P;P	0.55667	0.781;0.628	T	0.45498	-0.9257	10	0.87932	D	0	-0.2663	18.8415	0.92186	0.0:0.0:1.0:0.0	.	102;381	Q96NY3;Q96KC8	.;DNJC1_HUMAN	C	381	ENSP00000366179:S381C	ENSP00000366179:S381C	S	-	2	0	0	DNAJC1	22095201	22095201	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.055000	0.57441	2.447000	0.82792	0.591000	0.81541	TCC		0.353	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1		190.501277	57	57	154	154	NM_022365		56	190.501277	190.501277	56	0.5	0	0	0	1	0	56	56	0.5	C	22055195	G	C	22055195	3	2	7	1	0	0	0	0	1	0	0	0	4628	1174	41	5	534	5	DNAJC1	10	22055195	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		22055195	113479552	9	109											
CDHR1	92211	broad.mit.edu	37	10	85956312	85956312	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr10:85956312C>T	ENST00000372117.3	+	3	306	c.203C>T	c.(202-204)tCc>tTc	p.S68F	CDHR1_ENST00000332904.3_Missense_Mutation_p.S68F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	68	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GACCCCATCTCCTACCACATC	0.507																																						ENST00000372117.3											0			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(202-204)tCc>tTc	cadherin-related family member 1						145	124	131					10																	85956312		2203	4300	6503	SO:0001583	missense	92211			homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85956312C>T	AB053448	AB053448	CCDS7372.1, CCDS53548.1	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	"Cadherins / Cadherin-related"	14550	14550	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609502	609502	"protocadherin 21"	PCDH21	"protocadherin 21"	PCDH21		11597768	11597768	Standard	Standard	NM_001171971	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	uc001kcv.3	Q96JP9	Q96JP9	OTTHUMG00000018634	OTTHUMG00000018634	ENST00000372117.3:c.203C>T	10.37:g.85956312C>T	ENSP00000361189:p.Ser68Phe		CDHR1_ENST00000332904.3_Missense_Mutation_p.S68F	p.S68F	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			3	306	+			68	Cadherin 1.	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.203C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549780	0.65311	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.52057	0.68;0.68	5.57	5.57	0.84162	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.519821	0.19853	N	0.104587	T	0.61274	0.2334	L	0.49640	1.575	0.80722	D	1	D;D	0.57571	0.98;0.978	P;P	0.60682	0.807;0.878	T	0.54781	-0.8242	10	0.33141	T	0.24	-28.0597	18.3121	0.90204	0.0:1.0:0.0:0.0	.	68;68	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	F	68	ENSP00000331063:S68F;ENSP00000361189:S68F	ENSP00000331063:S68F	S	+	2	0	0	CDHR1	85946292	85946292	1.000000	0.71417	0.994000	0.49952	0.750000	0.42670	3.282000	0.51693	2.630000	0.89119	0.561000	0.74099	TCC		0.507	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1		90.275718	-9	-9	82	82	NM_033100		29	90.311166	90.311166	26	0.527273	0	0	0	1	0	29	26	0.527273	T	85956312	C	T	85956312	3	4	7	1	0	0	0	0	1	0	0	0	3118	855	30	3	213	3	CDHR1	10	85956312	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08	63901117	85956312	49578435	10	110											
MLL2	8085	broad.mit.edu	37	12	49427665	49427667	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr12:49427665_49427667delTGC	ENST00000301067.7	-	39	10820_10822	c.10821_10823delGCA	c.(10819-10824)cagcaa>caa	p.3607_3608QQ>Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3607	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3337Q(1)|p.Q3607Q(1)									ttgctgttgttgctgctgctgct	0.586																																						ENST00000301067.7											2	Substitution - coding silent(2)	large_intestine(2)								c.(10819-10824)cagcaa>caa	lysine (K)-specific methyltransferase 2D																																			SO:0001651	inframe_deletion	8085						g.chr12:49427665_49427667delTGC	AF010403	AF010403	CCDS44873.1	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	7133	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602113	602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	9247308	Standard	Standard	NM_003482	NM_003482		Approved	ALR, MLL4, CAGL114			O14686	O14686	OTTHUMG00000166524	OTTHUMG00000166524	ENST00000301067.7:c.10821_10823delGCA	12.37:g.49427674_49427676delTGC	ENSP00000301067:p.Gln3612del			p.3607_3608QQ>Q	NM_003482.3	NP_003473.3					39	10820_10822	-					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.10821_10823delGCA	CCDS44873.1																																																																																									0.586	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	.	.	3	3	9	9			2			4	0.33						2	4	0.33	-	49427667	TGC	-	49427665	7	5	7	1	0	1	0	1	0	0	0	0	9621	1812	63	0	5854	0	MLL2	12	49427665	In_Frame_Del	DEL	TGC	TCGA-V4-A9E9-01A-11D-A39W-08		49427665	84424230	11	111											
TMOD2	29767	broad.mit.edu	37	15	52065948	52065948	+	Missense_Mutation	SNP	G	G	A	rs114844653	byFrequency	TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr15:52065948G>A	ENST00000249700.4	+	4	544	c.323G>A	c.(322-324)cGt>cAt	p.R108H	TMOD2_ENST00000539962.2_Missense_Mutation_p.R64H|TMOD2_ENST00000435126.2_Missense_Mutation_p.R108H	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	108					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)		ATAGAAACTCGTAAAGAAGAA	0.408																																						ENST00000249700.4											0			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(322-324)cGt>cAt	tropomodulin 2 (neuronal)	G	HIS/ARG,HIS/ARG	0,4390		0,0,2195	104	103	104		323,323	-5.4	0	15	dbSNP_132	104	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	TMOD2	NM_014548.3,NM_001142885.1	29,29	0,1,6487	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	108/352,108/316	52065948	1,12975	2195	4293	6488	SO:0001583	missense	29767			nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52065948G>A	AF177169	AF177169	CCDS10144.1, CCDS45260.1	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			2008-05-14			ENSG00000128872	ENSG00000128872	ENSG00000128872	ENSG00000128872				11872	11872	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602928	602928						10662549	10662549	Standard	Standard	NM_014548	NM_014548		Approved	NTMOD	uc002abk.3	uc002abk.3	Q9NZR1	Q9NZR1	OTTHUMG00000131805	OTTHUMG00000131805	ENST00000249700.4:c.323G>A	15.37:g.52065948G>A	ENSP00000249700:p.Arg108His		TMOD2_ENST00000435126.2_Missense_Mutation_p.R108H|TMOD2_ENST00000539962.2_Missense_Mutation_p.R64H	p.R108H	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	4	544	+			108		B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.323G>A	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103365	0.20632	0.0	1.16E-4	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	T;T;T	0.31247	1.5;1.5;1.5	5.36	-5.36	0.02689	5.36	-5.36	0.02689	.	0.337879	0.32518	N	0.005991	T	0.10078	0.0247	N	0.08118	0	0.21473	N	0.999674	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.003	T	0.06463	-1.0825	10	0.36615	T	0.2	3.3239	4.0375	0.09737	0.5078:0.1136:0.2861:0.0924	.	108;108	Q9NZR1-2;Q9NZR1	.;TMOD2_HUMAN	H	108;108;64	ENSP00000404590:R108H;ENSP00000249700:R108H;ENSP00000437743:R64H	ENSP00000249700:R108H	R	+	2	0	0	TMOD2	49853240	49853240	0.000000	0.05858	0.004000	0.12327	0.997000	0.91878	-0.646000	0.05403	-0.907000	0.03862	0.655000	0.94253	CGT		0.408	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2		143.905855	35	35	122	122			44	143.971482	143.971482	39	0.53012	0	0	0	1	0	44	39	0.53012	A	52065948	G	A	52065948	3	1	7	1	0	0	0	0	1	0	0	0	16231	1145	40	1	333	1	TMOD2	15	52065948	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		52065948	50465444	12	112											
GP2	2813	broad.mit.edu	37	16	20331019	20331019	+	Silent	SNP	G	G	T			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr16:20331019G>T	ENST00000381362.4	-	7	1015	c.939C>A	c.(937-939)atC>atA	p.I313I	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Silent_p.I163I|GP2_ENST00000381360.5_Silent_p.I166I|GP2_ENST00000302555.5_Silent_p.I310I	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	313	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGATGTTGAGGATGGTGTCTC	0.448																																						ENST00000302555.5											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(928-930)atC>atA	glycoprotein 2 (zymogen granule membrane)						410	377	388					16																	20331019		2203	4300	6503	SO:0001819	synonymous_variant	2813				anchored to membrane|extracellular region|plasma membrane		g.chr16:20331019G>T	U36221	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			2008-02-05			ENSG00000169347	ENSG00000169347	ENSG00000169347	ENSG00000169347				4441	4441	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602977	602977						9605860	9605860	Standard	Standard	XM_005255259	XM_005255259		Approved		uc002dgw.3	uc002dgw.3	P55259	P55259	OTTHUMG00000131489	OTTHUMG00000131489	ENST00000381362.4:c.939C>A	16.37:g.20331019G>T			GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Silent_p.I163I|GP2_ENST00000381360.5_Silent_p.I166I|GP2_ENST00000381362.4_Silent_p.I313I	p.I310I			P55259	GP2_HUMAN			6	1079	-			313	ZP.	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.930C>A	CCDS42128.1																																																																																									0.448	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1		245.667650	63	63	224	224	NM_016295		82	245.703119	245.703119	77	0.515723	1	0	1.5608e-48	1	1.80724e-48	82	77	0.515723	T	20331019	G	T	20331019	2	4	7	1	0	0	0	0	0	0	0	1	6582	1164	41	5		5	GP2	16	20331019	Silent	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		20331019	70023734	13	113											
OVCA2	124641	broad.mit.edu	37	17	1945490	1945491	+	Frame_Shift_Ins	INS	-	-	C	rs199650013|rs201458913		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr17:1945490_1945491insC	ENST00000572195.1	+	1	164_165	c.149_150insC	c.(148-153)gaccccfs	p.DP50fs	DPH1_ENST00000570477.1_Intron|RP11-667K14.4_ENST00000572404.1_RNA|RP11-667K14.3_ENST00000572790.1_lincRNA|DPH1_ENST00000263083.6_Intron	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	50					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										CCGGTCCCCGACCCCCCGGGCC	0.703											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000572195.1											0										c.(148-153)gaccccfs	ovarian tumor suppressor candidate 2																																			SO:0001589	frameshift_variant	124641			response to retinoic acid	cytoplasm	hydrolase activity	g.chr17:1945490_1945491insC	AF321875	AF321875	CCDS11015.1	CCDS11015.1	17p13.3	2012-10-08			2012-10-08			ENSG00000262664	ENSG00000262664	ENSG00000262664	ENSG00000262664				24203	24203	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"candidate tumor suppressor in ovarian cancer 2"	"candidate tumor suppressor in ovarian cancer 2"	607896	607896						11979432, 8616839, 16368187	11979432, 8616839, 16368187	Standard	Standard	NM_080822	NM_080822		Approved		uc002ftx.3	uc002ftx.3	Q8WZ82	Q8WZ82	OTTHUMG00000132471	OTTHUMG00000132471	ENST00000572195.1:c.155dupC	17.37:g.1945496_1945496dupC	ENSP00000461388:p.Asp50fs	599	DPH1_ENST00000570477.1_Intron|DPH1_ENST00000263083.6_Intron	p.DP50fs	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN			1	164_165	+			50		Q86XN3|Q8IW87|Q9UCX9	Frame_Shift_Ins	INS	ENST00000572195.1	37	c.149_150insC	CCDS11015.1																																																																																									0.703	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	.	.	-8	-8	4	4	NM_080822		2			4	0.33						2	4	0.33	C	1945491	-	C	1945490	7	5	7	1	0	1	1	0	0	0	0	0	11322	275	10	0	151	0	OVCA2	17	1945490	Frame_Shift_Ins	INS	-	TCGA-V4-A9E9-01A-11D-A39W-08		1945490	79249720	14	114											
GSG2	83903	broad.mit.edu	37	17	3628701	3628701	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr17:3628701G>C	ENST00000325418.4	+	1	1491	c.1472G>C	c.(1471-1473)gGg>gCg	p.G491A	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GAGAAGATTGGGGAAGGGGTG	0.458																																						ENST00000325418.4											0										c.(1471-1473)gGg>gCg	germ cell associated 2 (haspin)						58	56	57					17																	3628701		2203	4300	6503	SO:0001583	missense	83903			cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628701G>C	AB039834	AB039834	CCDS11036.1	CCDS11036.1	17p13	2005-01-19			2005-01-19			ENSG00000177602	ENSG00000177602	ENSG00000177602	ENSG00000177602				19682	19682	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609240	609240								Standard	Standard	NM_031965	NM_031965		Approved	haspin	uc002fwp.3	uc002fwp.3	Q8TF76	Q8TF76	OTTHUMG00000090703	OTTHUMG00000090703	ENST00000325418.4:c.1472G>C	17.37:g.3628701G>C	ENSP00000325290:p.Gly491Ala		ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	p.G491A	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1491	+			491	Protein kinase.	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1472G>C	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550657	0.65311	.	.	ENSG00000177602	ENST00000325418	D	0.82081	-1.57	4.87	4.87	0.63330	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000055	D	0.90741	0.7094	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.91719	0.5387	10	0.87932	D	0	-25.2746	16.0321	0.80585	0.0:0.0:1.0:0.0	.	491	Q8TF76	HASP_HUMAN	A	491	ENSP00000325290:G491A	ENSP00000325290:G491A	G	+	2	0	0	GSG2	3575450	3575450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.123000	0.77176	2.648000	0.89879	0.655000	0.94253	GGG		0.458	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1		80.205254	36	36	100	100	NM_031965		27	80.920405	80.920405	42	0.391304	0	0	0	1	0	27	42	0.391304	C	3628701	G	C	3628701	3	2	7	1	0	0	0	0	1	0	0	0	6822	1232	43	5	1474	5	GSG2	17	3628701	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08	1683211	3628701	77566509	15	115											
CHST9	83539	broad.mit.edu	37	18	24496802	24496802	+	Silent	SNP	G	G	A			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr18:24496802G>A	ENST00000284224.8	-	6	1030	c.753C>T	c.(751-753)taC>taT	p.Y251Y	AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.Y251Y|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	251					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					AATGCTTCCCGTAGTGGACAG	0.423																																						ENST00000284224.8											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(751-753)taC>taT	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9						148	135	139					18																	24496802		1886	4111	5997	SO:0001819	synonymous_variant	83539			carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496802G>A	AF239821	AF239821	CCDS42422.1, CCDS58618.1	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			2011-04-28			ENSG00000154080	ENSG00000154080	ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	"Sulfotransferases, membrane-bound"	19898	19898	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610191	610191						11139592, 11445554	11139592, 11445554	Standard	Standard	NM_031422	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	uc002kwe.4	Q7L1S5	Q7L1S5			ENST00000284224.8:c.753C>T	18.37:g.24496802G>A			CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.Y251Y|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	p.Y251Y	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	1030	-	all_lung(6;0.0145)|Ovarian(20;0.124)		251		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	c.753C>T	CCDS42422.1																																																																																									0.423	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1		-11.039686	51	51	128	128	NM_031422		3	6.346951	6.346951	73	0.039474	0	0	0	1	0	3	73	0.039474	A	24496802	G	A	24496802	2	1	7	1	0	0	0	0	0	0	0	1	3411	1140	40	1		1	CHST9	18	24496802	Silent	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		24496802	53580446	16	116											
ADAMTS10	81794	broad.mit.edu	37	19	8656924	8656924	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:8656924C>A	ENST00000597188.1	-	14	1921	c.1651G>T	c.(1651-1653)Ggg>Tgg	p.G551W	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.G551W|ADAMTS10_ENST00000595838.1_Silent_p.G41G	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	551	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTCCACGGCCCCCAGGCTCCG	0.687																																						ENST00000270328.4											0			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1651-1653)Ggg>Tgg	ADAM metallopeptidase with thrombospondin type 1 motif, 10						23	26	25					19																	8656924		2203	4297	6500	SO:0001583	missense	81794			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8656924C>A	AF163762	AF163762	CCDS12206.1, CCDS62529.1	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303	ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	13201	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608990	608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"		"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"					Standard	Standard	XM_005272499	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	uc002mkj.1	Q9H324	Q9H324	OTTHUMG00000182216	OTTHUMG00000182216	ENST00000597188.1:c.1651G>T	19.37:g.8656924C>A	ENSP00000471851:p.Gly551Trp		ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G551W|ADAMTS10_ENST00000595838.1_Silent_p.G41G	p.G551W			Q9H324	ATS10_HUMAN			13	1917	-			551	TSP type-1 1.	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1651G>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772685	0.69992	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.55760	0.5	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.222827	0.38217	N	0.001773	D	0.82291	0.5005	H	0.97491	4.015	0.80722	D	1	P;D	0.71674	0.956;0.998	P;D	0.87578	0.754;0.998	D	0.89347	0.3658	10	0.87932	D	0	.	16.4707	0.84111	0.0:1.0:0.0:0.0	.	305;551	Q59FE5;Q9H324	.;ATS10_HUMAN	W	551;305	ENSP00000270328:G551W	ENSP00000270328:G551W	G	-	1	0	0	ADAMTS10	8562924	8562924	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.461000	0.66699	2.122000	0.65172	0.467000	0.42956	GGG		0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		6.950823	10	10	64	64	NM_030957		5	11.962136	11.962136	33	0.131579	1	0	0.0293803	1	0.0307794	5	33	0.131579	A	8656924	C	A	8656924	3	1	7	1	0	0	0	0	1	0	0	0	256	623	22	5	1712	5	ADAMTS10	19	8656924	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08		8656924	50472059	17	117											
ZNF439	90594	broad.mit.edu	37	19	11978607	11978607	+	Silent	SNP	G	G	A	rs370512382		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:11978607G>A	ENST00000304030.2	+	3	923	c.723G>A	c.(721-723)ccG>ccA	p.P241P	ZNF439_ENST00000455282.1_Silent_p.P105P|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P241P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAGAGAAACCGTATGAATGTA	0.363																																						ENST00000304030.2											1	Substitution - coding silent(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(721-723)ccG>ccA	zinc finger protein 439	G		0,4406		0,0,2203	83	83	83		723	-1.1	0	19		83	1,8599		0,1,4299	no	coding-synonymous	ZNF439	NM_152262.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		241/500	11978607	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90594			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978607G>A	AL833935	AL833935	CCDS12268.1	CCDS12268.1	19p13.13	2013-01-08			2013-01-08			ENSG00000171291	ENSG00000171291	ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	20873	20873	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_152262	NM_152262		Approved	DKFZp571K0837	uc002mss.3	uc002mss.3	Q8NDP4	Q8NDP4	OTTHUMG00000156527	OTTHUMG00000156527	ENST00000304030.2:c.723G>A	19.37:g.11978607G>A			ZNF439_ENST00000455282.1_Silent_p.P105P|ZNF439_ENST00000592534.1_Intron	p.P241P	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	923	+			241		Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	c.723G>A	CCDS12268.1																																																																																									0.363	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		-14.883555	65	65	174	174			4	6.801264	6.801264	92	0.041667	0	0	0	1	0	4	92	0.041667	A	11978607	G	A	11978607	2	1	7	1	0	0	0	0	0	0	0	1	17908	1132	40	1		1	ZNF439	19	11978607	Silent	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08	3321683	11978607	47150376	18	118											
LILRA1	11024	broad.mit.edu	37	19	55106755	55106755	+	Silent	SNP	T	T	C			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr19:55106755T>C	ENST00000251372.3	+	5	731	c.549T>C	c.(547-549)tcT>tcC	p.S183S	LILRA1_ENST00000453777.1_Silent_p.S183S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	183	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.S183S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCATCTTCTCTGTGGGCCCCG	0.567																																						ENST00000453777.1											1	Substitution - coding silent(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(547-549)tcT>tcC	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1						155	158	157					19																	55106755		2203	4300	6503	SO:0001819	synonymous_variant	11024			cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106755T>C	AF025530	AF025530	CCDS12901.1, CCDS62802.1	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			2013-01-11			ENSG00000104974	ENSG00000104974	ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	6602	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604810	604810						9548455	9548455	Standard	Standard	NM_006863	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	uc002qgh.2	O75019	O75019	OTTHUMG00000065701	OTTHUMG00000065701	ENST00000251372.3:c.549T>C	19.37:g.55106755T>C			LILRA1_ENST00000251372.3_Silent_p.S183S|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	p.S183S	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	719	+			183	Ig-like C2-type 2.	O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.549T>C	CCDS12901.1																																																																																									0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2		-32.428414	70	70	196	196	NM_006863		4	7.305566	7.305566	155	0.025157	0	0	0	1	0	4	155	0.025157	C	55106755	T	C	55106755	2	2	7	1	0	0	0	0	0	0	0	1	8784	1567	55	4		4	LILRA1	19	55106755	Silent	SNP	T	TCGA-V4-A9E9-01A-11D-A39W-08	43128148	55106755	4022228	19	119											
C20orf96	140680	broad.mit.edu	37	20	258020	258021	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	g.chr20:258020_258021delAA	ENST00000360321.2	-	7	707_708	c.569_570delTT	c.(568-570)cttfs	p.L190fs	C20orf96_ENST00000400269.3_Frame_Shift_Del_p.L132fs|C20orf96_ENST00000382369.5_Frame_Shift_Del_p.L155fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	190										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCTGCTGCTCAAGATCTGGGGA	0.574																																						ENST00000360321.2											0			endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(568-570)cttfs	chromosome 20 open reading frame 96																																			SO:0001589	frameshift_variant	140680						g.chr20:258020_258021delAA	AL034548	AL034548	CCDS12994.1, CCDS74685.1	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			2012-10-30			ENSG00000196476	ENSG00000196476	ENSG00000196476	ENSG00000196476				16227	16227	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_153269	NM_153269		Approved	dJ1103G7.2	uc002wde.2	uc002wde.2	Q9NUD7	Q9NUD7	OTTHUMG00000031626	OTTHUMG00000031626	ENST00000360321.2:c.569_570delTT	20.37:g.258020_258021delAA	ENSP00000353470:p.Leu190fs		C20orf96_ENST00000382369.5_Frame_Shift_Del_p.L155fs|C20orf96_ENST00000400269.3_Frame_Shift_Del_p.L132fs	p.L190fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		7	707_708	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	190		A3KPE0|B2RPH9|Q8N840|Q8NAX5	Frame_Shift_Del	DEL	ENST00000360321.2	37	c.569_570delTT	CCDS12994.1																																																																																									0.574	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	.	.	68	68	244	244	NM_153269		91			115	0.44						91	115	0.44	-	258021	AA	-	258020	7	5	7	1	0	1	0	1	0	0	0	0	2122	117	5	0	541	0	C20orf96	20	258020	Frame_Shift_Del	DEL	AA	TCGA-V4-A9E9-01A-11D-A39W-08		258020	62767500	20	120											
NPHP4	261734	broad.mit.edu	37	1	6012777	6012777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr1:6012777delG	ENST00000378156.4	-	7	1058	c.793delC	c.(793-795)cagfs	p.Q265fs	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	265					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTGGTCCTGGACGTGGAGC	0.637																																						ENST00000378156.4											0			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(793-795)cagfs	nephronophthisis 4						18	19	19					1																	6012777		1855	4084	5939	SO:0001589	frameshift_variant	261734			actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:6012777delG	AB014573	AB014573	CCDS44052.1	CCDS44052.1	1p36	2010-03-26			2010-03-26			ENSG00000131697	ENSG00000131697	ENSG00000131697	ENSG00000131697				19104	19104	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215	607215						11920287, 12205563	11920287, 12205563	Standard	Standard	XR_244787	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	uc001alq.2	O75161	O75161	OTTHUMG00000000701	OTTHUMG00000000701	ENST00000378156.4:c.793delC	1.37:g.6012777delG	ENSP00000367398:p.Gln265fs		NPHP4_ENST00000478423.2_5'UTR	p.Q265fs	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	7	1058	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	265		Q8IWC0	Frame_Shift_Del	DEL	ENST00000378156.4	37	c.793delC	CCDS44052.1																																																																																									0.637	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2	.	.	1	1	7	7			2			4	0.33						2	4	0.33	-	6012777	G	-	6012777	7	5	8	1	0	1	0	1	0	0	0	0	10581	1357	47	0	3583	0	NPHP4	1	6012777	Frame_Shift_Del	DEL	G	TCGA-V4-A9EA-01A-11D-A39W-08		6012777	243237844	1	121											
KDM1A	23028	broad.mit.edu	37	1	23377001	23377001	+	Silent	SNP	T	T	C			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr1:23377001T>C	ENST00000356634.3	+	3	788	c.639T>C	c.(637-639)atT>atC	p.I213I	KDM1A_ENST00000542151.1_Silent_p.I233I|KDM1A_ENST00000400181.4_Silent_p.I233I|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	213	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|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)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCTTTTCATTAGAAACCGCA	0.378																																						ENST00000400181.4											0			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(697-699)atT>atC	lysine (K)-specific demethylase 1A						109	106	107					1																	23377001		2203	4300	6503	SO:0001819	synonymous_variant	23028			blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23377001T>C	AL031428	AL031428	CCDS30627.1, CCDS53278.1	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	"Chromatin-modifying enzymes / K-demethylases"	29079	29079	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609132	609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	9628581, 12493763	Standard	Standard	NM_015013	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	uc001bgj.2	O60341	O60341	OTTHUMG00000003220	OTTHUMG00000003220	ENST00000356634.3:c.639T>C	1.37:g.23377001T>C			KDM1A_ENST00000356634.3_Silent_p.I213I|KDM1A_ENST00000542151.1_Silent_p.I233I|RP1-184J9.2_ENST00000427154.1_RNA	p.I233I	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			4	803	+			213	SWIRM.	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.699T>C	CCDS30627.1																																																																																									0.378	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3		-12.245007	-16	-16	64	64	NM_015013		3	6.845041	6.845041	79	0.036585	0	0	0	1	0	3	79	0.036585	C	23377001	T	C	23377001	2	2	8	1	0	0	0	0	0	0	0	1	8122	1742	61	4		4	KDM1A	1	23377001	Silent	SNP	T	TCGA-V4-A9EA-01A-11D-A39W-08	17364224	23377001	225873620	2	122											
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(5)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)Cgt>Tgt	splicing factor 3b, subunit 1, 155kDa						93	90	91					2																	198267484		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys			p.R625C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1964	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	0	SF3B1	197975729	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		82.390636	15	15	69	69			27	82.674802	82.674802	36	0.428571	0	0	0	1	0	27	36	0.428571	A	198267484	G	A	198267484	3	1	8	1	0	0	0	0	1	0	0	0	14149	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		198267484	44931889	3	123											
ITPR3	3710	broad.mit.edu	37	6	33654821	33654821	+	Silent	SNP	G	G	A			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr6:33654821G>A	ENST00000374316.5	+	45	7075	c.6015G>A	c.(6013-6015)gaG>gaA	p.E2005E	ITPR3_ENST00000605930.1_Silent_p.E2005E			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2005					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTCTGATGGAGAGCCGGCATG	0.642																																						ENST00000374316.5											0			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6013-6015)gaG>gaA	inositol 1,4,5-trisphosphate receptor, type 3						64	60	61					6																	33654821		2202	4294	6496	SO:0001819	synonymous_variant	3710			activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33654821G>A	D26351	D26351	CCDS4783.1	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433	ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	"Ion channels / Inositol triphosphate receptors"	6182	6182	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147267	147267	"inositol 1,4,5-triphosphate receptor, type 3"		"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	8081734, 8288584	Standard	Standard	NM_002224	NM_002224		Approved	IP3R3	uc021ywr.1	uc021ywr.1	Q14573	Q14573	OTTHUMG00000014532	OTTHUMG00000014532	ENST00000374316.5:c.6015G>A	6.37:g.33654821G>A			ITPR3_ENST00000605930.1_Silent_p.E2005E	p.E2005E			Q14573	ITPR3_HUMAN			45	7075	+			2005		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.6015G>A	CCDS4783.1																																																																																									0.642	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		210.928338	-11	-11	89	89	NM_002224		64	213.469147	213.469147	31	0.673684	0	0	0	1	0	64	31	0.673684	A	33654821	G	A	33654821	2	1	8	1	0	0	0	0	0	0	0	1	7922	933	33	3		3	ITPR3	6	33654821	Silent	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		33654821	137460246	4	124											
C6orf89	221477	broad.mit.edu	37	6	36882388	36882388	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr6:36882388C>T	ENST00000480824.2	+	6	908	c.614C>T	c.(613-615)gCg>gTg	p.A205V	C6orf89_ENST00000373685.1_Missense_Mutation_p.A205V|C6orf89_ENST00000359359.2_Missense_Mutation_p.A99V|C6orf89_ENST00000510325.2_Missense_Mutation_p.A99V|C6orf89_ENST00000355190.3_Missense_Mutation_p.A212V			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	205					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TACCCTGAGGCGACAGAAGGC	0.507																																						ENST00000480824.2											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(613-615)gCg>gTg	chromosome 6 open reading frame 89						176	185	182					6																	36882388		2203	4300	6503	SO:0001583	missense	221477				integral to membrane		g.chr6:36882388C>T	AK058086	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			2013-03-14			ENSG00000198663	ENSG00000198663	ENSG00000198663	ENSG00000198663				21114	21114	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"bombesin receptor activated protein"	"bombesin receptor activated protein"								21857995, 23460338	21857995, 23460338	Standard	Standard	NM_152734	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	uc003omw.3	Q6UWU4	Q6UWU4	OTTHUMG00000014613	OTTHUMG00000014613	ENST00000480824.2:c.614C>T	6.37:g.36882388C>T	ENSP00000475947:p.Ala205Val		C6orf89_ENST00000510325.2_Missense_Mutation_p.A99V|C6orf89_ENST00000355190.3_Missense_Mutation_p.A212V|C6orf89_ENST00000359359.2_Missense_Mutation_p.A99V|C6orf89_ENST00000373685.1_Missense_Mutation_p.A205V	p.A205V			Q6UWU4	CF089_HUMAN			6	908	+			205		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.614C>T		.	.	.	.	.	.	.	.	.	.	C	0.012	-1.649076	0.00785	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	5.03	-8.82	0.00810	5.03	-8.82	0.00810	.	1.015020	0.07871	N	0.967887	T	0.02304	0.0071	N	0.00538	-1.39	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.0;0.001	T	0.43750	-0.9372	9	0.02654	T	1	0.7461	19.7373	0.96212	0.0:0.7959:0.0:0.2041	.	205;212	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	V	99;99;212;205	.	ENSP00000347322:A212V	A	+	2	0	0	C6orf89	36990366	36990366	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-1.279000	0.02807	-2.514000	0.00502	-1.821000	0.00599	GCG		0.507	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2		400.906685	-15	-15	156	156	NM_152734		125	403.290764	403.290764	78	0.615764	0	0	0	1	0	125	78	0.615764	T	36882388	C	T	36882388	3	4	8	1	0	0	0	0	1	0	0	0	2373	768	27	1	653	1	C6orf89	6	36882388	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08	3227567	36882388	134232679	5	125											
ADAMTSL1	92949	broad.mit.edu	37	9	18906784	18906784	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr9:18906784G>A	ENST00000380548.4	+	28	5395	c.5056G>A	c.(5056-5058)Ggc>Agc	p.G1686S	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.G387S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1686	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCAACTACGGCTTCCAGTC	0.647																																						ENST00000380548.4											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(5056-5058)Ggc>Agc	ADAMTS-like 1						44	58	53					9																	18906784		2134	4224	6358	SO:0001583	missense	92949				proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18906784G>A	AF176313	AF176313	CCDS6485.1, CCDS47954.1	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			2013-01-11			ENSG00000178031	ENSG00000178031	ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	"Immunoglobulin superfamily / I-set domain containing"	14632	14632	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"punctin"	"punctin"	609198	609198	"chromosome 9 open reading frame 94"	C9orf94	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	9628581, 11805097	Standard	Standard	NM_001040272	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	uc003zne.4	Q8N6G6	Q8N6G6	OTTHUMG00000019604	OTTHUMG00000019604	ENST00000380548.4:c.5056G>A	9.37:g.18906784G>A	ENSP00000369921:p.Gly1686Ser		ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.G387S	p.G1686S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	28	5395	+			1686	TSP type-1 9.	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.5056G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487289	0.96323	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.71461	-0.57;-0.57	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	D	0.89476	0.6726	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92365	0.5900	10	0.87932	D	0	.	19.2299	0.93834	0.0:0.0:1.0:0.0	.	1187;387;1686	A2A344;Q8N6G6-6;Q8N6G6	.;.;ATL1_HUMAN	S	1686;387;390	ENSP00000369921:G1686S;ENSP00000369918:G387S	ENSP00000325584:G390S	G	+	1	0	0	ADAMTSL1	18896784	18896784	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.765000	0.98953	2.549000	0.85964	0.563000	0.77884	GGC		0.647	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		47.421517	1	1	46	46			15	47.480776	47.480776	18	0.454545	0	0	0	1	0	15	18	0.454545	A	18906784	G	A	18906784	3	1	8	1	0	0	0	0	1	0	0	0	274	1116	39	1	5170	1	ADAMTSL1	9	18906784	Missense_Mutation	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		18906784	122306647	6	126											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		130.401597	-14	-14	98	98	NM_002072		40	130.412738	130.412738	38	0.512821	0	0	0	1	0	40	38	0.512821	A	80409488	T	A	80409488	3	1	8	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EA-01A-11D-A39W-08	61502704	80409488	60803943	7	127											
DSCAML1	57453	broad.mit.edu	37	11	117307958	117307958	+	Missense_Mutation	SNP	C	C	T	rs527533395	byFrequency	TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr11:117307958C>T	ENST00000321322.6	-	26	4781	c.4780G>A	c.(4780-4782)Ggg>Agg	p.G1594R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G1324R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1534					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AACACCTCCCCGGAGCTGTTG	0.652																																						ENST00000321322.6											0			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4780-4782)Ggg>Agg	Down syndrome cell adhesion molecule like 1						88	87	87					11																	117307958		2201	4296	6497	SO:0001583	missense	57453			axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117307958C>T			CCDS8384.1	CCDS8384.1	11q22.2-q22.3	2013-02-11			2013-02-11			ENSG00000177103	ENSG00000177103	ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	14656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611782	611782						11453658	11453658	Standard	Standard	NM_020693	NM_020693		Approved	KIAA1132	uc001prh.1	uc001prh.1	Q8TD84	Q8TD84	OTTHUMG00000167071	OTTHUMG00000167071	ENST00000321322.6:c.4780G>A	11.37:g.117307958C>T	ENSP00000315465:p.Gly1594Arg		DSCAML1_ENST00000527706.1_Missense_Mutation_p.G1324R	p.G1594R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4781	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1534		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4780G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	3.374	-0.127761	0.06753	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.52295	0.67;0.67	4.63	1.69	0.24217	4.63	1.69	0.24217	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28466	0.0704	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.22173	-1.0224	9	0.15952	T	0.53	.	8.7128	0.34393	0.0:0.5143:0.0:0.4857	.	1534	Q8TD84	DSCL1_HUMAN	R	1324;1594;1301	ENSP00000434335:G1324R;ENSP00000315465:G1594R	ENSP00000315465:G1594R	G	-	1	0	0	DSCAML1	116813168	116813168	0.000000	0.05858	0.004000	0.12327	0.555000	0.35460	0.153000	0.16323	0.139000	0.18822	-0.140000	0.14226	GGG		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		9.529748	-3	-3	92	92	NM_020693		6	14.686703	14.686703	36	0.142857	0	0	0	1	0	6	36	0.142857	T	117307958	C	T	117307958	3	4	8	1	0	0	0	0	1	0	0	0	4769	652	23	1	1593	1	DSCAML1	11	117307958	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		117307958	17698558	8	128											
ACVRL1	94	broad.mit.edu	37	12	52309169	52309169	+	Silent	SNP	G	G	A			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr12:52309169G>A	ENST00000388922.4	+	7	1216	c.933G>A	c.(931-933)gcG>gcA	p.A311A	ACVRL1_ENST00000419526.2_Silent_p.A137A|ACVRL1_ENST00000550683.1_Silent_p.A325A	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GCGGCCTGGCGCACCTGCACG	0.607																																						ENST00000550683.1											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(973-975)gcG>gcA	activin A receptor type II-like 1						56	51	53					12																	52309169		2203	4300	6503	SO:0001819	synonymous_variant	94			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309169G>A	L17075	L17075	CCDS31804.1	CCDS31804.1	12q13.13	2014-09-17			2014-09-17			ENSG00000139567	ENSG00000139567	ENSG00000139567	ENSG00000139567				175	175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601284	601284		ACVRLK1, ORW2		ACVRLK1, ORW2		8397373, 8640225	8397373, 8640225	Standard	Standard	NM_000020	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	uc001rzk.3	P37023	P37023	OTTHUMG00000169507	OTTHUMG00000169507	ENST00000388922.4:c.933G>A	12.37:g.52309169G>A			ACVRL1_ENST00000419526.2_Silent_p.A137A|ACVRL1_ENST00000388922.4_Silent_p.A311A	p.A325A	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	6	1076	+			311	Protein kinase.	A6NGA8	Silent	SNP	ENST00000388922.4	37	c.975G>A	CCDS31804.1																																																																																									0.607	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		37.666777	-1	-1	42	42			13	38.079454	38.079454	21	0.382353	0	0	0	1	0	13	21	0.382353	A	52309169	G	A	52309169	2	1	8	1	0	0	0	0	0	0	0	1	225	1074	38	1		1	ACVRL1	12	52309169	Silent	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		52309169	81542726	9	129											
PYGL	5836	broad.mit.edu	37	14	51379761	51379761	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr14:51379761C>T	ENST00000216392.7	-	13	1938	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T	PYGL_ENST00000532462.1_Missense_Mutation_p.A536T|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Missense_Mutation_p.A502T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	536					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TTCACCTTGGCGAGTTCCCGG	0.483																																						ENST00000216392.7											0			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(1606-1608)Gcc>Acc	phosphorylase, glycogen, liver						86	83	84					14																	51379761		2203	4300	6503	SO:0001583	missense	5836			glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51379761C>T			CCDS32080.1, CCDS53894.1	CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	"Glycogen phosphorylases"	9725	9725	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	613741	"phosphorylase, glycogen; liver"		"phosphorylase, glycogen; liver"			2877458	2877458	Standard	Standard	NM_002863	NM_002863		Approved		uc001wyu.3	uc001wyu.3	P06737	P06737	OTTHUMG00000166596	OTTHUMG00000166596	ENST00000216392.7:c.1606G>A	14.37:g.51379761C>T	ENSP00000216392:p.Ala536Thr		PYGL_ENST00000532462.1_Missense_Mutation_p.A536T|PYGL_ENST00000544180.2_Missense_Mutation_p.A502T|RP11-218E20.5_ENST00000557343.1_RNA	p.A536T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			13	1938	-	all_epithelial(31;0.00825)|Breast(41;0.148)		536		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.1606G>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	7.971	0.749023	0.15710	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.93019	-3.15;-3.15;-3.15	5.82	-6.63	0.01807	5.82	-6.63	0.01807	.	0.652426	0.17325	N	0.178356	D	0.91171	0.7219	M	0.80746	2.51	0.27767	N	0.943603	B;B;B	0.13594	0.006;0.008;0.006	B;B;B	0.21151	0.013;0.033;0.002	T	0.73685	-0.3905	10	0.23302	T	0.38	-1.1614	16.8285	0.85937	0.2662:0.6684:0.0:0.0654	.	502;502;536	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	T	536;502;536	ENSP00000431657:A536T;ENSP00000443787:A502T;ENSP00000216392:A536T	ENSP00000216392:A536T	A	-	1	0	0	PYGL	50449511	50449511	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.458000	0.02372	-1.117000	0.02965	-0.152000	0.13540	GCC		0.483	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3		0.698723	-12	-12	25	25	NM_002863		3	6.52759	6.52759	31	0.088235	0	0	0	1	0	3	31	0.088235	T	51379761	C	T	51379761	3	4	8	1	0	0	0	0	1	0	0	0	12861	768	27	1	969	1	PYGL	14	51379761	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		51379761	55969779	10	130											
TBX6	6911	broad.mit.edu	37	16	30102139	30102139	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr16:30102139C>T	ENST00000395224.2	-	3	352	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	TBX6_ENST00000279386.2_Missense_Mutation_p.R98Q|YPEL3_ENST00000565479.1_5'Flank|TBX6_ENST00000553607.1_Missense_Mutation_p.R98Q	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	98					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CCATAGCTCCCGGTTCTCCAG	0.637																																						ENST00000553607.1											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(292-294)cGg>cAg	T-box 6						45	47	47					16																	30102139		2197	4300	6497	SO:0001583	missense	6911			anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30102139C>T	AJ007989	AJ007989	CCDS10670.1	CCDS10670.1	16p11.2	2008-02-05			2008-02-05			ENSG00000149922	ENSG00000149922	ENSG00000149922	ENSG00000149922		"T-boxes"	"T-boxes"	11605	11605	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602427	602427						9888994, 9933572	9888994, 9933572	Standard	Standard	NM_004608	NM_004608		Approved		uc010veh.2	uc010veh.2	O95947	O95947	OTTHUMG00000132115	OTTHUMG00000132115	ENST00000395224.2:c.293G>A	16.37:g.30102139C>T	ENSP00000378650:p.Arg98Gln		TBX6_ENST00000395224.2_Missense_Mutation_p.R98Q|TBX6_ENST00000279386.2_Missense_Mutation_p.R98Q	p.R98Q			O95947	TBX6_HUMAN			2	986	-			98		Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	c.293G>A	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341371	0.41498	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.87650	-2.28;-2.28;-2.28	5.07	2.81	0.32909	5.07	2.81	0.32909	p53-like transcription factor, DNA-binding (1);	0.590849	0.16409	N	0.215671	T	0.79263	0.4416	L	0.43701	1.375	0.23841	N	0.996697	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.64322	-0.6435	10	0.29301	T	0.29	.	6.1134	0.20114	0.0:0.5161:0.0:0.4839	.	98;98	O95947;Q9HA44	TBX6_HUMAN;.	Q	98	ENSP00000378650:R98Q;ENSP00000279386:R98Q;ENSP00000461223:R98Q	ENSP00000279386:R98Q	R	-	2	0	0	TBX6	30009640	30009640	0.614000	0.27017	1.000000	0.80357	0.984000	0.73092	0.069000	0.14552	1.135000	0.42183	0.561000	0.74099	CGG		0.637	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2		71.553322	-24	-24	44	44	NM_004608, NM_080758		22	71.640546	71.640546	18	0.55	0	0	0	1	0	22	18	0.55	T	30102139	C	T	30102139	3	4	8	1	0	0	0	0	1	0	0	0	15659	652	23	1	1045	1	TBX6	16	30102139	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		30102139	60252614	11	131											
CRISPLD2	83716	broad.mit.edu	37	16	84940226	84940226	+	Missense_Mutation	SNP	G	G	A	rs147087796		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr16:84940226G>A	ENST00000262424.5	+	15	1696	c.1472G>A	c.(1471-1473)cGg>cAg	p.R491Q	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R490Q	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	491					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AAGGCCTTCCGGATCTTTGCT	0.537													G|||	1	0.000199681	0	0.0014	5008	,	,		18515	0		0	False		,,,				2504	0					ENST00000262424.5											0			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(1471-1473)cGg>cAg	cysteine-rich secretory protein LCCL domain containing 2	G	GLN/ARG	1,4397		0,1,2198	68	72	70		1472	5	1	16	dbSNP_134	70	0,8600		0,0,4300	no	missense	CRISPLD2	NM_031476.3	43	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	491/498	84940226	1,12997	2199	4300	6499	SO:0001583	missense	83716				extracellular region|transport vesicle		g.chr16:84940226G>A	AL136861	AL136861	CCDS10949.1	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196	ENSG00000103196	ENSG00000103196				25248	25248	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612434	612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	11230166	Standard	Standard	NM_031476	NM_031476		Approved	DKFZP434B044	uc010voh.1	uc010voh.1	Q9H0B8	Q9H0B8	OTTHUMG00000137644	OTTHUMG00000137644	ENST00000262424.5:c.1472G>A	16.37:g.84940226G>A	ENSP00000262424:p.Arg491Gln		CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R490Q	p.R491Q	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			15	1696	+			491		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.1472G>A	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748468	0.89753	2.27E-4	0.0	ENSG00000103196	ENST00000262424	D	0.89415	-2.51	5.03	5.03	0.67393	5.03	5.03	0.67393	LCCL (1);	0.000000	0.64402	D	0.000001	D	0.89466	0.6723	L	0.56769	1.78	0.80722	D	1	D	0.63880	0.993	P	0.50136	0.632	D	0.89192	0.3551	10	0.44086	T	0.13	.	14.2425	0.65966	0.0:0.0:1.0:0.0	.	491	Q9H0B8	CRLD2_HUMAN	Q	491	ENSP00000262424:R491Q	ENSP00000262424:R491Q	R	+	2	0	0	CRISPLD2	83497727	83497727	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.819000	0.62664	2.495000	0.84180	0.655000	0.94253	CGG		0.537	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2		23.048823	-23	-23	96	96	NM_031476		11	29.949701	29.949701	55	0.166667	0	0	0	1	0	11	55	0.166667	A	84940226	G	A	84940226	3	1	8	1	0	0	0	0	1	0	0	0	3883	1116	39	1	1526	1	CRISPLD2	16	84940226	Missense_Mutation	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08	54838087	84940226	5414527	12	132											
PHLPP1	23239	broad.mit.edu	37	18	60587193	60587193	+	Splice_Site	DEL	T	T	-			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr18:60587193delT	ENST00000262719.5	+	10	3040	c.2806delT	c.(2806-2808)tta>ta	p.L936fs	PHLPP1_ENST00000400316.4_Splice_Site_p.L424fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	936					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TTTATACAGCTTATTTTGTAA	0.393																																						ENST00000400316.4											0			endometrium(2)|kidney(2)|lung(13)	17						c.(1270-1272)tta>ta	PH domain and leucine rich repeat protein phosphatase 1						29	26	27					18																	60587193		1802	4070	5872	SO:0001630	splice_region_variant	23239			apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60587193delT	AB011178	AB011178	CCDS45881.1, CCDS45881.2	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	20610	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609396	609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	10570941, 15808505	Standard	Standard	NM_194449	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	uc021ule.1	O60346	O60346	OTTHUMG00000150629	OTTHUMG00000150629	ENST00000262719.5:c.2805-1T>-	18.37:g.60587193delT			PHLPP1_ENST00000262719.5_Splice_Site_p.L936fs	p.L424fs	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			10	3051	+			936		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Splice_Site	DEL	ENST00000262719.5	37	c.1270delT	CCDS45881.2																																																																																									0.393	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	.	.	4	4	11	11	NM_194449	Frame_Shift_Del	2			4	0.33						2	4	0.33	-	60587193	T	-	60587193	8	5	8	1	0	1	0	1	0	0	1	0	11854	1623	56	0	2844	0	PHLPP1	18	60587193	Splice_Site	DEL	T	TCGA-V4-A9EA-01A-11D-A39W-08		60587193	17490055	13	133											
ZSWIM1	90204	broad.mit.edu	37	20	44511331	44511331	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr20:44511331A>G	ENST00000372523.1	+	2	195	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.M34V	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	34						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GGCCCTGACAATGCTGAATGG	0.512																																						ENST00000372523.1											0			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(100-102)Atg>Gtg	zinc finger, SWIM-type containing 1						126	109	115					20																	44511331		2203	4300	6503	SO:0001583	missense	90204					zinc ion binding	g.chr20:44511331A>G	AL008726	AL008726	CCDS13382.2	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	"Zinc fingers, SWIM-type"	16155	16155	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 20 open reading frame 162"	C20orf162	"chromosome 20 open reading frame 162"	C20orf162				Standard	Standard	NM_080603	NM_080603		Approved	dJ337O18.5	uc010ghi.3	uc010ghi.3	Q9BR11	Q9BR11	OTTHUMG00000074023	OTTHUMG00000074023	ENST00000372523.1:c.100A>G	20.37:g.44511331A>G	ENSP00000361601:p.Met34Val		ZSWIM1_ENST00000372520.1_Missense_Mutation_p.M34V	p.M34V	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN			2	195	+		Myeloproliferative disorder(115;0.028)	34		Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	c.100A>G	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	A	7.834	0.720395	0.15372	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.21734	1.99;1.99	5.38	-0.816	0.10839	5.38	-0.816	0.10839	.	0.470223	0.17595	N	0.168629	T	0.09642	0.0237	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39702	-0.9601	10	0.06757	T	0.87	-17.3984	7.5248	0.27650	0.2912:0.1641:0.5447:0.0	.	34	Q9BR11	ZSWM1_HUMAN	V	34	ENSP00000361601:M34V;ENSP00000361598:M34V	ENSP00000361598:M34V	M	+	1	0	0	ZSWIM1	43944738	43944738	0.110000	0.22057	0.103000	0.21229	0.962000	0.63368	0.362000	0.20284	-0.064000	0.13043	0.533000	0.62120	ATG		0.512	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2		4.151599	-8	-8	61	61	NM_080603		5	12.385091	12.385091	46	0.098039	0	0	0	1	0	5	46	0.098039	G	44511331	A	G	44511331	3	3	8	1	0	0	0	0	1	0	0	0	18237	101	4	4	102	4	ZSWIM1	20	44511331	Missense_Mutation	SNP	A	TCGA-V4-A9EA-01A-11D-A39W-08		44511331	18514189	14	134											
MORC2	22880	broad.mit.edu	37	22	31332573	31332573	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chr22:31332573C>T	ENST00000397641.3	-	17	2070	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.M492I			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	554						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCTGCGTCTTCATGTCCTTTC	0.522																																						ENST00000397641.3											0			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(1660-1662)atG>atA	MORC family CW-type zinc finger 2						182	160	168					22																	31332573		2203	4300	6503	SO:0001583	missense	22880					ATP binding|zinc ion binding	g.chr22:31332573C>T	AB020659	AB020659	CCDS33636.1	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422	ENSG00000133422	ENSG00000133422				23573	23573	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1	"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	14607086	Standard	Standard	XM_005261391	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	uc003aje.1	Q9Y6X9	Q9Y6X9	OTTHUMG00000151193	OTTHUMG00000151193	ENST00000397641.3:c.1662G>A	22.37:g.31332573C>T	ENSP00000380763:p.Met554Ile		MORC2_ENST00000215862.4_Missense_Mutation_p.M492I|MORC2_ENST00000469915.1_5'UTR	p.M554I			Q9Y6X9	MORC2_HUMAN			17	2070	-					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.1662G>A		.	.	.	.	.	.	.	.	.	.	C	7.654	0.683441	0.14907	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.10763	2.84;2.84	6.06	-2.67	0.06059	6.06	-2.67	0.06059	.	0.748873	0.13033	N	0.419189	T	0.04137	0.0115	N	0.14661	0.345	0.27746	N	0.944305	B	0.02656	0.0	B	0.01281	0.0	T	0.42050	-0.9474	10	0.17832	T	0.49	.	2.7326	0.05231	0.098:0.2662:0.1835:0.4523	.	554	Q9Y6X9	MORC2_HUMAN	I	554;492	ENSP00000380763:M554I;ENSP00000215862:M492I	ENSP00000215862:M492I	M	-	3	0	0	MORC2	29662573	29662573	0.000000	0.05858	0.775000	0.31657	0.852000	0.48524	-0.770000	0.04705	-0.014000	0.14175	-0.140000	0.14226	ATG		0.522	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2		179.840751	19	19	128	128	NM_014941		58	179.857344	179.857344	61	0.487395	0	0	0	1	0	58	61	0.487395	T	31332573	C	T	31332573	3	4	8	1	0	0	0	0	1	0	0	0	9702	826	29	3	1476	3	MORC2	22	31332573	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		31332573	19971993	15	135											
DDX3Y	8653	broad.mit.edu	37	Y	15028513	15028513	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	g.chrY:15028513C>A	ENST00000336079.3	+	14	1682	c.1576C>A	c.(1576-1578)Cgt>Agt	p.R526S	DDX3Y_ENST00000360160.4_Missense_Mutation_p.R526S	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	526	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATATGTGCATCGTATTGGCCG	0.383																																						ENST00000336079.3											0			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(1576-1578)Cgt>Agt	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked																																			SO:0001583	missense	8653				cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15028513C>A	AF000984	AF000984	CCDS14782.1	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048	ENSG00000067048	ENSG00000067048		"DEAD-boxes"	"DEAD-boxes"	2699	2699	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			400010	400010	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY		9381176	9381176	Standard	Standard	NM_004660	NM_004660		Approved		uc004fsv.2	uc004fsv.2	O15523	O15523	OTTHUMG00000036324	OTTHUMG00000036324	ENST00000336079.3:c.1576C>A	Y.37:g.15028513C>A	ENSP00000336725:p.Arg526Ser		DDX3Y_ENST00000360160.4_Missense_Mutation_p.R526S	p.R526S	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			14	1682	+			526	Helicase C-terminal.	B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.1576C>A	CCDS14782.1																																																																																									0.383	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1		-7.228567	100	100	100	100	NM_004660		3	6.496441	6.496441	60	0.047619	1	0	0.004672	1	0.00495515	3	60	0.047619	A	15028513	C	A	15028513	3	1	8	1	0	0	0	0	1	0	0	0	4359	884	31	5	1630	5	DDX3Y	24	15028513	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		15028513	44345053	16	136											
TNFRSF8	943	broad.mit.edu	37	1	12164444	12164444	+	Missense_Mutation	SNP	G	G	A	rs141205943		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:12164444G>A	ENST00000263932.2	+	4	499	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	93					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.V93M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGACGACCTCGTGGAGAAGAC	0.592																																						ENST00000263932.2											1	Substitution - Missense(1)	pancreas(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(277-279)Gtg>Atg	tumor necrosis factor receptor superfamily, member 8	G	MET/VAL	1,4405		0,1,2202	124	100	108		277	4.9	1	1	dbSNP_134	108	0,8600		0,0,4300	no	missense	TNFRSF8	NM_001243.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	93/596	12164444	1,13005	2203	4300	6503	SO:0001583	missense	0			cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12164444G>A	M83554	M83554	CCDS144.1, CCDS59989.1	CCDS144.1, CCDS59989.1	1p36	2008-02-05			2008-02-05			ENSG00000120949	ENSG00000120949	ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	11923	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			153243	153243		CD30, D1S166E		CD30, D1S166E		1330892, 1310894	1330892, 1310894	Standard	Standard	XM_006711049	XM_006711049		Approved	KI-1	uc001atq.3	uc001atq.3	P28908	P28908	OTTHUMG00000001827	OTTHUMG00000001827	ENST00000263932.2:c.277G>A	1.37:g.12164444G>A	ENSP00000263932:p.Val93Met		TNFRSF8_ENST00000417814.2_5'UTR	p.V93M	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	499	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	93		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.277G>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.053279	0.55218	2.27E-4	0.0	ENSG00000120949	ENST00000263932	D	0.92149	-2.98	4.92	4.92	0.64577	4.92	4.92	0.64577	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.121291	0.36303	N	0.002670	D	0.95427	0.8515	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95108	0.8236	10	0.54805	T	0.06	-36.1039	14.3555	0.66735	0.0:0.0:1.0:0.0	.	93	P28908	TNR8_HUMAN	M	93	ENSP00000263932:V93M	ENSP00000263932:V93M	V	+	1	0	0	TNFRSF8	12087031	12087031	1.000000	0.71417	0.977000	0.42913	0.304000	0.27724	4.870000	0.63035	2.665000	0.90641	0.650000	0.86243	GTG		0.592	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		51.269975	-23	-23	72	72			17	51.294285	51.294285	19	0.472222	0	0	0	1	0	17	19	0.472222	A	12164444	G	A	12164444	3	1	9	1	0	0	0	0	1	0	0	0	16296	1145	40	1	291	1	TNFRSF8	1	12164444	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		12164444	237086177	1	137											
RGL1	23179	broad.mit.edu	37	1	183885710	183885710	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:183885710T>C	ENST00000360851.3	+	16	2057	c.1879T>C	c.(1879-1881)Tct>Cct	p.S627P	RGL1_ENST00000539189.1_Missense_Mutation_p.S598P|RGL1_ENST00000536277.1_Missense_Mutation_p.S625P|RGL1_ENST00000304685.4_Missense_Mutation_p.S662P			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	627					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCACAAGCGCTCTGTCTCGGT	0.493																																						ENST00000304685.4											0			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(1984-1986)Tct>Cct	ral guanine nucleotide dissociation stimulator-like 1						203	187	193					1																	183885710		2203	4300	6503	SO:0001583	missense	23179			cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183885710T>C	AF186780	AF186780	CCDS1359.1, CCDS72992.1	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			2008-02-05			ENSG00000143344	ENSG00000143344	ENSG00000143344	ENSG00000143344				30281	30281	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605667	605667						10760592, 10231032	10760592, 10231032	Standard	Standard	XM_005245010	XM_005245010		Approved	RGL	uc001gqm.3	uc001gqm.3	Q9NZL6	Q9NZL6	OTTHUMG00000035328	OTTHUMG00000035328	ENST00000360851.3:c.1879T>C	1.37:g.183885710T>C	ENSP00000354097:p.Ser627Pro		RGL1_ENST00000360851.3_Missense_Mutation_p.S627P|RGL1_ENST00000539189.1_Missense_Mutation_p.S598P|RGL1_ENST00000536277.1_Missense_Mutation_p.S625P	p.S662P	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			17	2433	+				Ras-associating.	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.1984T>C		.	.	.	.	.	.	.	.	.	.	T	28.3	4.905457	0.92107	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.54675	0.61;0.61;0.64;0.63;0.56	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.210963	0.44902	D	0.000408	T	0.66509	0.2796	L	0.60455	1.87	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.994;0.994;0.994	D;P;P;P	0.65010	0.931;0.855;0.855;0.855	T	0.65274	-0.6208	10	0.36615	T	0.2	.	15.1614	0.72788	0.0:0.0:0.0:1.0	.	598;625;627;662	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	P	662;662;625;627;598	ENSP00000303192:S662P;ENSP00000356501:S662P;ENSP00000438662:S625P;ENSP00000354097:S627P;ENSP00000437355:S598P	ENSP00000303192:S662P	S	+	1	0	0	RGL1	182152333	182152333	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.837000	0.62796	2.066000	0.61787	0.528000	0.53228	TCT		0.493	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1		-6.722803	-6	-6	107	107	NM_015149		3	6.717506	6.717506	59	0.048387	0	0	0	1	0	3	59	0.048387	C	183885710	T	C	183885710	3	2	9	1	0	0	0	0	1	0	0	0	13276	1551	54	4	2046	4	RGL1	1	183885710	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	171721266	183885710	65364911	2	138											
RPS6KC1	26750	broad.mit.edu	37	1	213415244	213415244	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:213415244G>T	ENST00000366960.3	+	11	2575	c.2425G>T	c.(2425-2427)Gta>Tta	p.V809L	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.V597L|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.V512L|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V797L|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	809	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGAGTCAGCAGTAACTGCAAA	0.393																																						ENST00000366960.3											0			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2425-2427)Gta>Tta	ribosomal protein S6 kinase, 52kDa, polypeptide 1						125	127	127					1																	213415244		2203	4300	6503	SO:0001583	missense	26750			cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415244G>T	AF037447	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643	ENSG00000136643	ENSG00000136643				10439	10439	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"ribosomal protein S6 kinase, 52kD, polypeptide 1"		"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	10552933	Standard	Standard	XM_005273095	XM_005273095		Approved	humS6PKh1	uc010ptr.2	uc010ptr.2	Q96S38	Q96S38	OTTHUMG00000036926	OTTHUMG00000036926	ENST00000366960.3:c.2425G>T	1.37:g.213415244G>T	ENSP00000355927:p.Val809Leu		RPS6KC1_ENST00000543470.1_Missense_Mutation_p.V597L|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V797L|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.V512L	p.V809L	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2575	+			809	Protein kinase 2.	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2425G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	0.207	-1.039505	0.02013	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.39056	1.47;1.49;1.5;1.1	5.63	1.23	0.21249	5.63	1.23	0.21249	Protein kinase, catalytic domain (1);	1.366050	0.04548	N	0.389286	T	0.30355	0.0762	L	0.36672	1.1	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.19128	-1.0315	10	0.35671	T	0.21	-24.3873	1.1846	0.01852	0.197:0.1561:0.3853:0.2615	.	597;809;797	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	L	597;809;797;512	ENSP00000442306:V597L;ENSP00000355927:V809L;ENSP00000355926:V797L;ENSP00000439282:V512L	ENSP00000355926:V797L	V	+	1	0	0	RPS6KC1	211481867	211481867	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-0.165000	0.09968	0.259000	0.21709	0.655000	0.94253	GTA		0.393	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		116.171916	-9	-9	115	115	NM_012424		37	116.171916	116.171916	37	0.5	1	0	5.43694e-19	1	5.9312e-19	37	37	0.5	T	213415244	G	T	213415244	3	4	9	1	0	0	0	0	1	0	0	0	13658	1029	36	5	2467	5	RPS6KC1	1	213415244	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	29529534	213415244	35835377	3	139											
RYR2	6262	broad.mit.edu	37	1	237791261	237791261	+	Silent	SNP	G	G	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr1:237791261G>T	ENST00000366574.2	+	41	6638	c.6321G>T	c.(6319-6321)acG>acT	p.T2107T	RYR2_ENST00000360064.6_Silent_p.T2105T|RYR2_ENST00000542537.1_Silent_p.T2091T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2107	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACCTACACGATAAATGGTG	0.547																																						ENST00000366574.2											0			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6319-6321)acG>acT	ryanodine receptor 2 (cardiac)						92	93	93					1																	237791261		2002	4144	6146	SO:0001819	synonymous_variant	6262			cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791261G>T	X91869	X91869	CCDS55691.1	CCDS55691.1	1q43	2014-09-17			2014-09-17			ENSG00000198626	ENSG00000198626	ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	10484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180902	180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	2380170, 8406504, 11159936	Standard	Standard	NM_001035	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	uc001hyl.1	Q92736	Q92736	OTTHUMG00000039543	OTTHUMG00000039543	ENST00000366574.2:c.6321G>T	1.37:g.237791261G>T			RYR2_ENST00000542537.1_Silent_p.T2091T|RYR2_ENST00000360064.6_Silent_p.T2105T	p.T2107T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6638	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2107	4 X approximate repeats.	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6321G>T	CCDS55691.1																																																																																									0.547	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		40.070863	0	0	43	43	NM_001035		13	40.187047	40.187047	17	0.433333	1	0	7.03913e-09	1	7.45319e-09	13	17	0.433333	T	237791261	G	T	237791261	2	4	9	1	0	0	0	0	0	0	0	1	13769	1045	37	5		5	RYR2	1	237791261	Silent	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	24376017	237791261	11459360	4	140											
FANCL	55120	broad.mit.edu	37	2	58388662	58388662	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr2:58388662A>G	ENST00000233741.4	-	12	1051	c.1015T>C	c.(1015-1017)Tat>Cat	p.Y339H	FANCL_ENST00000403295.3_Missense_Mutation_p.Y311H|FANCL_ENST00000403676.1_Missense_Mutation_p.Y222H|FANCL_ENST00000402135.3_Missense_Mutation_p.Y344H	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	339					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						TTTACCTCATATAAGCATATT	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000402135.3											0			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						c.(1030-1032)Tat>Cat	Fanconi anemia, complementation group L						75	81	79					2																	58388662		2201	4297	6498	SO:0001583	missense	55120	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58388662A>G	AK001197	AK001197	CCDS1860.1, CCDS46294.1	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392	ENSG00000115392	ENSG00000115392		"Zinc fingers, PHD-type", "Fanconi anemia, complementation groups"	"Zinc fingers, PHD-type", "Fanconi anemia, complementation groups"	20748	20748	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608111	608111	"PHD finger protein 9"	PHF9	"PHD finger protein 9"	PHF9				Standard	Standard	NM_018062	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	uc002rzx.4	Q9NW38	Q9NW38	OTTHUMG00000129349	OTTHUMG00000129349	ENST00000233741.4:c.1015T>C	2.37:g.58388662A>G	ENSP00000233741:p.Tyr339His		FANCL_ENST00000233741.4_Missense_Mutation_p.Y339H|FANCL_ENST00000403676.1_Missense_Mutation_p.Y222H|FANCL_ENST00000403295.3_Missense_Mutation_p.Y311H	p.Y344H	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN			12	1066	-			339		Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	c.1030T>C	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.733916	0.89482	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070	T;T;T;T;T	0.67865	-0.24;-0.29;-0.29;-0.24;-0.24	5.91	5.91	0.95273	5.91	5.91	0.95273	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.053587	0.85682	D	0.000000	D	0.84238	0.5428	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.99;0.999;1.0	D	0.86473	0.1786	10	0.59425	D	0.04	-17.6464	16.3469	0.83138	1.0:0.0:0.0:0.0	.	280;311;344;339	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	H	311;339;344;222;280	ENSP00000386097:Y311H;ENSP00000233741:Y339H;ENSP00000385021:Y344H;ENSP00000384046:Y222H;ENSP00000401280:Y280H	ENSP00000233741:Y339H	Y	-	1	0	0	FANCL	58242166	58242166	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.828000	0.92047	2.263000	0.75096	0.528000	0.53228	TAT		0.338	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1		21.585112	15	15	79	79	NM_018062		8	24.137054	24.137054	28	0.222222	0	0	0	1	0	8	28	0.222222	G	58388662	A	G	58388662	3	3	9	1	0	0	0	0	1	0	0	0	5670	449	16	4	124	4	FANCL	2	58388662	Missense_Mutation	SNP	A	TCGA-V4-A9EC-01A-11D-A39W-08		58388662	184810711	5	141											
SF3B1	23451	broad.mit.edu	37	2	198267370	198267370	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr2:198267370T>G	ENST00000335508.6	-	14	2078	c.1987A>C	c.(1987-1989)Act>Cct	p.T663P	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	663					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTAATACCAGTGTGTCTCGCT	0.418			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1987-1989)Act>Cct	splicing factor 3b, subunit 1, 155kDa						122	121	122					2																	198267370		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267370T>G	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1987A>C	2.37:g.198267370T>G	ENSP00000335321:p.Thr663Pro			p.T663P	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2078	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1987A>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.775956	0.90195	.	.	ENSG00000115524	ENST00000335508	T	0.66638	-0.22	5.68	5.68	0.88126	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92028	0.5631	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	663	O75533	SF3B1_HUMAN	P	663	ENSP00000335321:T663P	ENSP00000335321:T663P	T	-	1	0	0	SF3B1	197975615	197975615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	ACT		0.418	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		53.169048	-11	-11	54	54			17	53.429583	53.429583	24	0.414634	0	0	0	1	0	17	24	0.414634	G	198267370	T	G	198267370	3	3	9	1	0	0	0	0	1	0	0	0	14149	1696	59	5	1975	5	SF3B1	2	198267370	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	139878708	198267370	44932003	6	142											
SLC27A6	28965	broad.mit.edu	37	5	128302199	128302199	+	Silent	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr5:128302199C>T	ENST00000262462.4	+	1	1379	c.369C>T	c.(367-369)ttC>ttT	p.F123F	SLC27A6_ENST00000395266.1_Silent_p.F123F|SLC27A6_ENST00000506176.1_Silent_p.F123F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	123					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ACGTGTGGTTCGGCCTCGCCA	0.592																																						ENST00000262462.4											0			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(367-369)ttC>ttT	solute carrier family 27 (fatty acid transporter), member 6						79	59	65					5																	128302199		2203	4300	6503	SO:0001819	synonymous_variant	28965			long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302199C>T	AF064254	AF064254	CCDS4145.1	CCDS4145.1	5q23.3	2013-05-22			2013-05-22			ENSG00000113396	ENSG00000113396	ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	"Acyl-CoA synthetase family", "Solute carriers"	11000	11000	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196	604196						12556534, 10479480	12556534, 10479480	Standard	Standard	XM_005271967	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	uc003kuy.3	Q9Y2P4	Q9Y2P4	OTTHUMG00000128991	OTTHUMG00000128991	ENST00000262462.4:c.369C>T	5.37:g.128302199C>T			SLC27A6_ENST00000506176.1_Silent_p.F123F|SLC27A6_ENST00000395266.1_Silent_p.F123F	p.F123F			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1379	+		all_cancers(142;0.0483)|Prostate(80;0.055)	123		Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.369C>T	CCDS4145.1																																																																																									0.592	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1		33.825504	-3	-3	22	22	NM_014031		11	33.861312	33.861312	13	0.458333	0	0	0	1	0	11	13	0.458333	T	128302199	C	T	128302199	2	4	9	1	0	0	0	0	0	0	0	1	14530	883	31	1		1	SLC27A6	5	128302199	Silent	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		128302199	52613061	7	143											
ARSI	340075	broad.mit.edu	37	5	149677696	149677696	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr5:149677696G>A	ENST00000328668.7	-	2	1370	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	264					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCATGGCCGCGTACTTCCG	0.587																																						ENST00000328668.7											0			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(790-792)gCg>gTg	arylsulfatase family, member I						45	40	42					5																	149677696		2203	4300	6503	SO:0001583	missense	340075				endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677696G>A	AY875937	AY875937	CCDS34275.1	CCDS34275.1	5q32	2014-03-03	2006-03-07		2014-03-03	2006-03-07			ENSG00000183876		ENSG00000183876		"Arylsulfatase family"	"Arylsulfatase family"	32521	32521	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610009	610009	"arylsulfatase I"		"arylsulfatase I"			16174644, 24482476	16174644, 24482476	Standard	Standard	NM_001012301	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	uc003lrv.2	Q5FYB1	Q5FYB1			ENST00000328668.7:c.791C>T	5.37:g.149677696G>A	ENSP00000333395:p.Ala264Val			p.A264V	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1370	-			264		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.791C>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764814	0.90020	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96856	-4.15;-4.15	4.46	4.46	0.54185	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98121	0.9380	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99116	1.0848	10	0.87932	D	0	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	264	Q5FYB1	ARSI_HUMAN	V	264;121	ENSP00000333395:A264V;ENSP00000426879:A121V	ENSP00000333395:A264V	A	-	2	0	0	ARSI	149657889	149657889	1.000000	0.71417	0.978000	0.43139	0.951000	0.60555	9.591000	0.98241	2.460000	0.83146	0.561000	0.74099	GCG		0.587	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1		2.004453	4	4	39	39	NM_001012301		3	6.545151	6.545151	26	0.103448	0	0	0	1	0	3	26	0.103448	A	149677696	G	A	149677696	3	1	9	1	0	0	0	0	1	0	0	0	994	1087	38	1	922	1	ARSI	5	149677696	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	21375497	149677696	31237564	8	144											
SLC39A7	7922	broad.mit.edu	37	6	33169207	33169208	+	Frame_Shift_Ins	INS	-	-	T	rs574696426		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:33169207_33169208insT	ENST00000374677.3	+	1	558_559	c.185_186insT	c.(184-189)catggcfs	p.G63fs	RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000413614.2_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.G63fs|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	63	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)	p.S59_H66delSHAHGHGH(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGCCATGCCCATGGCCATGGCC	0.559																																						ENST00000374677.3											1	Deletion - In frame(1)	NS(1)	NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(184-189)catggcfs	solute carrier family 39 (zinc transporter), member 7																																			SO:0001589	frameshift_variant	7922				endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169207_33169208insT	AF117221	AF117221	CCDS43453.1	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473	ENSG00000112473	ENSG00000112473		"Solute carriers"	"Solute carriers"	4927	4927	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601416	601416	"HLA class II region expressed gene KE4"	HKE4	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	8812499, 1855816, 19246244, 15705588	Standard	Standard	NM_006979	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	uc003odf.3	Q92504	Q92504	OTTHUMG00000031238	OTTHUMG00000031238	ENST00000374677.3:c.186dupT	6.37:g.33169208_33169208dupT	ENSP00000363809:p.Gly63fs		SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.G63fs	p.G63fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			1	558_559	+			63	His-rich.	B0UXF6|Q5STP8|Q9UIQ0	Frame_Shift_Ins	INS	ENST00000374677.3	37	c.185_186insT	CCDS43453.1																																																																																									0.559	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	.	.	-4	-4	50	50	NM_006979		32			32	0.5						32	32	0.5	T	33169208	-	T	33169207	7	5	9	1	0	1	1	0	0	0	0	0	14623	217	8	0	187	0	SLC39A7	6	33169207	Frame_Shift_Ins	INS	-	TCGA-V4-A9EC-01A-11D-A39W-08		33169207	137945860	9	145											
KLHL31	401265	broad.mit.edu	37	6	53519136	53519136	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:53519136C>T	ENST00000407079.1	-	1	934	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	KLHL31_ENST00000370905.3_Missense_Mutation_p.R312Q			Q9H511	KLH31_HUMAN	kelch-like family member 31	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCAGCCACCTCGGATTCTTGT	0.483																																						ENST00000370905.3											0			autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(934-936)cGa>cAa	kelch-like family member 31						145	137	139					6																	53519136		2203	4300	6503	SO:0001583	missense	401265			regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519136C>T			CCDS34478.1	CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	"Kelch-like", "BTB/POZ domain containing"	21353	21353	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610749	610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1				Standard	Standard	NM_001003760	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	uc003pcb.4	Q9H511	Q9H511	OTTHUMG00000014882	OTTHUMG00000014882	ENST00000407079.1:c.935G>A	6.37:g.53519136C>T	ENSP00000384644:p.Arg312Gln		KLHL31_ENST00000407079.1_Missense_Mutation_p.R312Q	p.R312Q	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	1075	-	Lung NSC(77;0.0158)		312		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.935G>A	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260823	0.80246	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.74002	-0.8;-0.8	5.49	5.49	0.81192	5.49	5.49	0.81192	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90999	0.4841	10	0.87932	D	0	.	19.4094	0.94662	0.0:1.0:0.0:0.0	.	312	Q9H511	KLH31_HUMAN	Q	312	ENSP00000359942:R312Q;ENSP00000384644:R312Q	ENSP00000359942:R312Q	R	-	2	0	0	KLHL31	53627095	53627095	1.000000	0.71417	0.972000	0.41901	0.594000	0.36715	7.818000	0.86416	2.583000	0.87209	0.561000	0.74099	CGA		0.483	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1		168.744348	-13	-13	132	132	NM_001003760		54	168.77542	168.77542	58	0.482143	0	0	0	1	0	54	58	0.482143	T	53519136	C	T	53519136	3	4	9	1	0	0	0	0	1	0	0	0	8385	884	31	1	977	1	KLHL31	6	53519136	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08	20349929	53519136	117595931	10	146											
AIM1	202	broad.mit.edu	37	6	106960619	106960619	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr6:106960619delA	ENST00000369066.3	+	1	890	c.403delA	c.(403-405)aagfs	p.K135fs		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTCCCCACCCAAGAGGGTGCC	0.756																																						ENST00000369066.3											0			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(403-405)aagfs	absent in melanoma 1						4	6	5					6																	106960619		1924	3973	5897	SO:0001589	frameshift_variant	202					sugar binding	g.chr6:106960619delA	U83115	U83115	CCDS34506.1	CCDS34506.1	6q21	2014-01-29			2014-01-29			ENSG00000112297	ENSG00000112297	ENSG00000112297	ENSG00000112297				356	356	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	1680551, 12693952	Standard	Standard	NM_001624	NM_001624		Approved	CRYBG1	uc003prh.3	uc003prh.3	Q9Y4K1	Q9Y4K1	OTTHUMG00000015302	OTTHUMG00000015302	ENST00000369066.3:c.403delA	6.37:g.106960619delA	ENSP00000358062:p.Lys135fs			p.K135fs	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	1	890	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	135		Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	ENST00000369066.3	37	c.403delA	CCDS34506.1																																																																																									0.756	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1	.	.	-3	-3	6	6			2			4	0.33						2	4	0.33	-	106960619	A	-	106960619	7	5	9	1	0	1	0	1	0	0	0	0	430	131	5	0	405	0	AIM1	6	106960619	Frame_Shift_Del	DEL	A	TCGA-V4-A9EC-01A-11D-A39W-08	53441483	106960619	64154448	11	147											
TYRP1	7306	broad.mit.edu	37	9	12695537	12695541	+	Frame_Shift_Del	DEL	AAGTA	AAGTA	-			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:12695537_12695541delAAGTA	ENST00000388918.5	+	3	537_541	c.408_412delAAGTA	c.(406-414)ttaagtaaafs	p.SK137fs	TYRP1_ENST00000381136.2_5'Flank|TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	137					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCTGGACTTAAGTAAAGAAGAAAA	0.429									Oculocutaneous Albinism																													ENST00000388918.5											0			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(406-414)ttaagtaaafs	tyrosinase-related protein 1																																			SO:0001589	frameshift_variant	7306	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12695537_12695541delAAGTA	L33830	L33830	CCDS34990.1	CCDS34990.1	9p23	2013-01-08			2013-01-08			ENSG00000107165	ENSG00000107165	ENSG00000107165	ENSG00000107165				12450	12450	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			115501	115501		TYRP, CAS2		TYRP, CAS2		9434945	9434945	Standard	Standard	NM_000550	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	uc003zkv.4	P17643	P17643	OTTHUMG00000021034	OTTHUMG00000021034	ENST00000388918.5:c.408_412delAAGTA	9.37:g.12695537_12695541delAAGTA	ENSP00000373570:p.Ser137fs		TYRP1_ENST00000381137.2_5'UTR	p.SK137fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	3	537_541	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	137		P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.408_412delAAGTA	CCDS34990.1																																																																																									0.429	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	.	.	0	0	77	77	NM_000550		13			76	0.15						13	76	0.15	-	12695541	AAGTA	-	12695537	7	5	9	1	0	1	0	1	0	0	0	0	16813	359	13	0	414	0	TYRP1	9	12695537	Frame_Shift_Del	DEL	AAGTA	TCGA-V4-A9EC-01A-11D-A39W-08		12695537	128517894	12	148											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		134.968138	-24	-24	88	88	NM_002072		41	134.978597	134.978597	43	0.488095	0	0	0	1	0	41	43	0.488095	G	80409488	T	G	80409488	3	3	9	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	67713951	80409488	60803943	13	149											
SETX	23064	broad.mit.edu	37	9	135205194	135205194	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:135205194G>C	ENST00000224140.5	-	10	1973	c.1791C>G	c.(1789-1791)ttC>ttG	p.F597L	SETX_ENST00000393220.1_Missense_Mutation_p.F597L|SETX_ENST00000372169.2_Missense_Mutation_p.F597L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	597					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GAGGTGCTTTGAATTTTATGT	0.358																																						ENST00000372169.2											0			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1789-1791)ttC>ttG	senataxin						56	52	54					9																	135205194		2203	4299	6502	SO:0001583	missense	23064			cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205194G>C	AB014525	AB014525	CCDS6947.1	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290	ENSG00000107290	ENSG00000107290				445	445	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608465	608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	9497266, 11022012	Standard	Standard	NM_015046	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	uc004cbk.3	Q7Z333	Q7Z333	OTTHUMG00000020834	OTTHUMG00000020834	ENST00000224140.5:c.1791C>G	9.37:g.135205194G>C	ENSP00000224140:p.Phe597Leu		SETX_ENST00000224140.5_Missense_Mutation_p.F597L|SETX_ENST00000393220.1_Missense_Mutation_p.F597L	p.F597L			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1973	-		Myeloproliferative disorder(178;0.204)	597		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.1791C>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	3.984	-0.005752	0.07773	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.81499	-1.5;-1.5;-1.5	5.92	-0.453	0.12201	5.92	-0.453	0.12201	.	2.275650	0.01566	N	0.020363	T	0.63070	0.2480	N	0.19112	0.55	0.20764	N	0.99986	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.47420	-0.9119	10	0.09590	T	0.72	.	2.0329	0.03533	0.1925:0.1097:0.4507:0.2471	.	597;597;597	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	597	ENSP00000224140:F597L;ENSP00000361242:F597L;ENSP00000376913:F597L	ENSP00000224140:F597L	F	-	3	2	2	SETX	134195015	134195015	0.101000	0.21875	0.033000	0.17914	0.701000	0.40568	0.215000	0.17562	-0.127000	0.11661	-1.301000	0.01330	TTC		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3		18.613318	16	16	65	65	NM_015046		7	19.701928	19.701928	18	0.28	0	0	0	1	0	7	18	0.28	C	135205194	G	C	135205194	3	2	9	1	0	0	0	0	1	0	0	0	14141	1281	45	5	6310	5	SETX	9	135205194	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	54795706	135205194	6008237	14	150											
PNPLA7	375775	broad.mit.edu	37	9	140374845	140374845	+	Silent	SNP	T	T	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr9:140374845T>C	ENST00000277531.4	-	22	2610	c.2424A>G	c.(2422-2424)acA>acG	p.T808T	PNPLA7_ENST00000492278.1_5'Flank|PNPLA7_ENST00000371457.1_Silent_p.T414T|PNPLA7_ENST00000406427.1_Silent_p.T833T	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	808					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGTCCAGGGTGTGAGCGTGC	0.677																																						ENST00000406427.1											0			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2497-2499)acA>acG	patatin-like phospholipase domain containing 7						69	53	58					9																	140374845		2203	4300	6503	SO:0001819	synonymous_variant	375775			lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140374845T>C	AK126267	AK126267	CCDS7045.1, CCDS48070.1	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	"Patatin-like phospholipase domain containing"	24768	24768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612122	612122	"chromosome 9 open reading frame 111"	C9orf111	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	16799181, 12640454, 19029121	Standard	Standard	XM_005266082	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	uc010ncj.1	Q6ZV29	Q6ZV29	OTTHUMG00000020990	OTTHUMG00000020990	ENST00000277531.4:c.2424A>G	9.37:g.140374845T>C			PNPLA7_ENST00000277531.4_Silent_p.T808T|PNPLA7_ENST00000371457.1_Silent_p.T414T	p.T833T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	23	2835	-	all_cancers(76;0.126)		808		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.2499A>G	CCDS7045.1																																																																																									0.677	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1		43.151073	-21	-21	21	21	NM_152286		15	43.156091	43.156091	14	0.517241	0	0	0	1	0	15	14	0.517241	C	140374845	T	C	140374845	2	2	9	1	0	0	0	0	0	0	0	1	12170	1683	59	4		4	PNPLA7	9	140374845	Silent	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	5169651	140374845	838586	15	151											
HK1	3098	broad.mit.edu	37	10	71144107	71144107	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr10:71144107C>T	ENST00000359426.6	+	11	1693	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	HK1_ENST00000404387.2_Missense_Mutation_p.A534V|HK1_ENST00000360289.2_Missense_Mutation_p.A518V|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Missense_Mutation_p.A565V|HK1_ENST00000298649.3_Missense_Mutation_p.A529V	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	530	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GACTTCTTGGCCCTGGATCTT	0.473																																						ENST00000448642.2											0			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(1693-1695)gCc>gTc	hexokinase 1						180	175	177					10																	71144107		2203	4300	6503	SO:0001583	missense	3098			glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71144107C>T	M75126	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			2014-09-17			ENSG00000156515	ENSG00000156515	ENSG00000156515	ENSG00000156515	2.7.1.1			4922	4922	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142600	142600								Standard	Standard	NM_033496	NM_033496		Approved		uc001jpi.4	uc001jpi.4	P19367	P19367	OTTHUMG00000018380	OTTHUMG00000018380	ENST00000359426.6:c.1589C>T	10.37:g.71144107C>T	ENSP00000352398:p.Ala530Val		HK1_ENST00000404387.2_Missense_Mutation_p.A534V|HK1_ENST00000360289.2_Missense_Mutation_p.A518V|HK1_ENST00000359426.6_Missense_Mutation_p.A530V|HK1_ENST00000298649.3_Missense_Mutation_p.A529V|HK1_ENST00000494253.1_3'UTR	p.A565V			P19367	HXK1_HUMAN			16	2083	+			530	Catalytic.	E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.1694C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	36	5.666245	0.96745	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.99494	-6.01;-6.01;-6.01;-6.01;-6.01	5.77	5.77	0.91146	5.77	5.77	0.91146	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.89917	0.973;0.995;0.988;1.0;1.0;1.0	P;P;P;D;D;D	0.97110	0.675;0.675;0.678;0.999;0.999;1.0	D	0.98662	1.0684	10	0.87932	D	0	-20.7112	19.5653	0.95390	0.0:1.0:0.0:0.0	.	530;530;529;565;534;518	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	V	518;565;534;529;530;530	ENSP00000353433:A518V;ENSP00000402103:A565V;ENSP00000384774:A534V;ENSP00000298649:A529V;ENSP00000352398:A530V	ENSP00000298649:A529V	A	+	2	0	0	HK1	70814113	70814113	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.729000	0.93468	0.650000	0.86243	GCC		0.473	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2		117.648876	-55	-55	145	145	NM_000188		39	118.692693	118.692693	61	0.39	0	0	0	1	0	39	61	0.39	T	71144107	C	T	71144107	3	4	9	1	0	0	0	0	1	0	0	0	7190	739	26	2	1809	2	HK1	10	71144107	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		71144107	64390640	16	152											
SACS	26278	broad.mit.edu	37	13	23913291	23913291	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:23913291C>T	ENST00000382292.3	-	9	4997	c.4724G>A	c.(4723-4725)cGg>cAg	p.R1575Q	SACS_ENST00000402364.1_Missense_Mutation_p.R825Q|SACS_ENST00000382298.3_Missense_Mutation_p.R1575Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1575			R -> P (in SACS). {ECO:0000269|PubMed:20876471}.		cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATGAATTCCCGACTCATAAT	0.338																																						ENST00000382298.3											0			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(4723-4725)cGg>cAg	spastic ataxia of Charlevoix-Saguenay (sacsin)						88	86	87					13																	23913291		2203	4298	6501	SO:0001583	missense	26278			cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23913291C>T	AF193556	AF193556	CCDS9300.2	CCDS9300.2	13q11	2014-06-13	2014-01-30		2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835	ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	"Heat shock proteins / DNAJ (HSP40)"	10519	10519	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	"protein phosphatase 1, regulatory subunit 138"	604490	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"		"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	10610707, 15057823, 21726565	Standard	Standard	NM_001278055	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	uc001uon.3	Q9NZJ4	Q9NZJ4	OTTHUMG00000016562	OTTHUMG00000016562	ENST00000382292.3:c.4724G>A	13.37:g.23913291C>T	ENSP00000371729:p.Arg1575Gln		SACS_ENST00000402364.1_Missense_Mutation_p.R825Q|SACS_ENST00000382292.3_Missense_Mutation_p.R1575Q	p.R1575Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	5312	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1575		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.4724G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045175	0.75846	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87809	-2.3;-2.3;-2.3	6.16	6.16	0.99307	6.16	6.16	0.99307	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	L	0.53249	1.67	0.50467	D	0.999873	D	0.65815	0.995	P	0.58520	0.84	D	0.89566	0.3810	10	0.45353	T	0.12	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1575	Q9NZJ4	SACS_HUMAN	Q	1575;825;1575	ENSP00000371729:R1575Q;ENSP00000385844:R825Q;ENSP00000371735:R1575Q	ENSP00000371729:R1575Q	R	-	2	0	0	SACS	22811291	22811291	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGG		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		-3.416873	-4	-4	91	91	NM_014363		3	6.705284	6.705284	47	0.06	0	0	0	1	0	3	47	0.06	T	23913291	C	T	23913291	3	4	9	1	0	0	0	0	1	0	0	0	13804	652	23	1	9019	1	SACS	13	23913291	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		23913291	91256587	17	153											
CSNK1A1L	122011	broad.mit.edu	37	13	37679303	37679303	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:37679303C>T	ENST00000379800.3	-	1	500	c.91G>A	c.(91-93)Gtt>Att	p.V31I		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCCAGATAAACGTCTCCAAAG	0.537																																						ENST00000379800.3											0			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(91-93)Gtt>Att	casein kinase 1, alpha 1-like						139	127	131					13																	37679303		2203	4300	6503	SO:0001583	missense	122011			Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679303C>T	BC028723	BC028723	CCDS9363.1	CCDS9363.1	13q13.2	2008-02-05			2008-02-05			ENSG00000180138	ENSG00000180138	ENSG00000180138	ENSG00000180138				20289	20289	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_145203	NM_145203		Approved	MGC33182	uc001uwm.1	uc001uwm.1	Q8N752	Q8N752	OTTHUMG00000016748	OTTHUMG00000016748	ENST00000379800.3:c.91G>A	13.37:g.37679303C>T	ENSP00000369126:p.Val31Ile			p.V31I	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	500	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	31	Protein kinase.	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.91G>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.140119	0.01728	.	.	ENSG00000180138	ENST00000379800	T	0.80824	-1.42	0.778	0.778	0.18543	0.778	0.778	0.18543	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055899	0.64402	N	0.000002	T	0.43590	0.1254	N	0.01431	-0.87	0.29898	N	0.824643	B	0.09022	0.002	B	0.11329	0.006	T	0.46414	-0.9193	10	0.02654	T	1	.	3.0398	0.06134	0.0:0.6793:0.0:0.3206	.	31	Q8N752	KC1AL_HUMAN	I	31	ENSP00000369126:V31I	ENSP00000369126:V31I	V	-	1	0	0	CSNK1A1L	36577303	36577303	1.000000	0.71417	0.488000	0.27440	0.808000	0.45660	2.847000	0.48270	0.686000	0.31488	0.561000	0.74099	GTT		0.537	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1		-11.641275	-12	-12	76	76	NM_145203		3	6.312662	6.312662	75	0.038462	0	0	0	1	0	3	75	0.038462	T	37679303	C	T	37679303	3	4	9	1	0	0	0	0	1	0	0	0	3951	536	19	1	926	1	CSNK1A1L	13	37679303	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08	13766012	37679303	77490575	18	154											
COL4A2	1284	broad.mit.edu	37	13	111098204	111098204	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr13:111098204G>C	ENST00000360467.5	+	17	1292	c.986G>C	c.(985-987)gGg>gCg	p.G329A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	329	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCTATCAAGGGCCTGATGGA	0.512																																						ENST00000360467.5											0			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(985-987)gGg>gCg	collagen, type IV, alpha 2						106	110	108					13																	111098204		1926	4122	6048	SO:0001583	missense	1284			angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111098204G>C	AK025912	AK025912	CCDS41907.1	CCDS41907.1	13q34	2013-09-05			2013-09-05			ENSG00000134871	ENSG00000134871	ENSG00000134871	ENSG00000134871		"Collagens"	"Collagens"	2203	2203	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	"canstatin", "collagen type IV alpha 2"	120090	120090						2439508, 3025878	2439508, 3025878	Standard	Standard	NM_001846	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	uc001vqx.3	P08572	P08572	OTTHUMG00000017344	OTTHUMG00000017344	ENST00000360467.5:c.986G>C	13.37:g.111098204G>C	ENSP00000353654:p.Gly329Ala			p.G329A	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		17	1292	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	329	Triple-helical region.	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.986G>C	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289460	0.40494	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99329	-5.75	3.74	3.74	0.42951	3.74	3.74	0.42951	.	0.122377	0.36591	N	0.002507	D	0.99489	0.9818	M	0.94142	3.5	0.44117	D	0.996898	D	0.76494	0.999	D	0.91635	0.999	D	0.98095	1.0411	10	0.62326	D	0.03	.	11.36	0.49638	0.0:0.0:1.0:0.0	.	329	P08572	CO4A2_HUMAN	A	329	ENSP00000353654:G329A	ENSP00000257309:G329A	G	+	2	0	0	COL4A2	109896205	109896205	0.992000	0.36948	0.435000	0.26784	0.391000	0.30476	3.423000	0.52756	2.376000	0.81061	0.643000	0.83706	GGG		0.512	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2		114.253508	-22	-22	96	96	NM_001846		37	114.619824	114.619824	49	0.430233	0	0	0	1	0	37	49	0.430233	C	111098204	G	C	111098204	3	2	9	1	0	0	0	0	1	0	0	0	3690	1232	43	5	1048	5	COL4A2	13	111098204	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	73418901	111098204	4071674	19	155											
NDN	4692	broad.mit.edu	37	15	23932001	23932001	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr15:23932001G>T	ENST00000331837.4	-	1	449	c.364C>A	c.(364-366)Cca>Aca	p.P122T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	122	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACCATGTCTGGAAACCAGATG	0.622									Prader-Willi syndrome																													ENST00000331837.4											0			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(364-366)Cca>Aca	necdin, melanoma antigen (MAGE) family member						90	84	86					15																	23932001		2203	4300	6503	SO:0001583	missense	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932001G>T	U35139	U35139	CCDS10014.1	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636	ENSG00000182636	ENSG00000182636				7675	7675	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	"Prader-Willi syndrome chromosome region"	602117	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"		"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	9302265	Standard	Standard	NM_002487	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	uc001ywk.3	Q99608	Q99608	OTTHUMG00000129161	OTTHUMG00000129161	ENST00000331837.4:c.364C>A	15.37:g.23932001G>T	ENSP00000332643:p.Pro122Thr			p.P122T	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	449	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	122	MAGE.	B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.364C>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	7.935	0.741565	0.15642	.	.	ENSG00000182636	ENST00000331837	T	0.03920	3.76	3.7	2.66	0.31614	3.7	2.66	0.31614	.	0.061993	0.64402	D	0.000006	T	0.02455	0.0075	N	0.03154	-0.405	0.30090	N	0.808422	B	0.25904	0.137	B	0.31290	0.127	T	0.23154	-1.0196	10	0.45353	T	0.12	.	7.6073	0.28110	0.0:0.0:0.7466:0.2533	.	122	Q99608	NECD_HUMAN	T	122	ENSP00000332643:P122T	ENSP00000332643:P122T	P	-	1	0	0	NDN	21483094	21483094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.825000	0.39081	1.999000	0.58509	0.655000	0.94253	CCA		0.622	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2		7.938849	-66	-66	145	145	NM_002487		11	25.778952	25.778952	100	0.099099	1	0	2.27111e-07	1	2.336e-07	11	100	0.099099	T	23932001	G	T	23932001	3	4	9	1	0	0	0	0	1	0	0	0	10247	1174	41	5	605	5	NDN	15	23932001	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		23932001	78599391	20	156											
LRRC49	54839	broad.mit.edu	37	15	71193327	71193327	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr15:71193327A>C	ENST00000260382.5	+	4	520	c.260A>C	c.(259-261)gAg>gCg	p.E87A	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.E77A|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.E92A|LRRC49_ENST00000443425.2_Missense_Mutation_p.E43A	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	87						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TCTTCTGAAGAGAAAATTCTT	0.313																																						ENST00000260382.5											0			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(259-261)gAg>gCg	leucine rich repeat containing 49						80	83	82					15																	71193327		2199	4295	6494	SO:0001583	missense	54839				cytoplasm|microtubule		g.chr15:71193327A>C			CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09			2005-08-09				ENSG00000137821		ENSG00000137821				25965	25965	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_001199017	NM_001199017		Approved	FLJ20156	uc010ukf.2	uc010ukf.2	Q8IUZ0	Q8IUZ0			ENST00000260382.5:c.260A>C	15.37:g.71193327A>C	ENSP00000260382:p.Glu87Ala		LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.E77A|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.E92A|LRRC49_ENST00000443425.2_Missense_Mutation_p.E43A	p.E87A	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			4	520	+			87		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.260A>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388005	0.61956	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.37752	1.18;1.9;1.9	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.198988	0.35870	N	0.002921	T	0.31420	0.0796	L	0.32530	0.975	0.39912	D	0.974043	P;P;P;P;P	0.44478	0.836;0.831;0.492;0.741;0.814	B;B;B;B;B	0.42882	0.238;0.401;0.276;0.143;0.287	T	0.09574	-1.0668	10	0.39692	T	0.17	-24.9529	12.9413	0.58345	1.0:0.0:0.0:0.0	.	92;59;43;87;77	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	A	77;87;43;59	ENSP00000439600:E77A;ENSP00000260382:E87A;ENSP00000414065:E43A	ENSP00000260382:E87A	E	+	2	0	0	LRRC49	68980381	68980381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.952000	0.70282	2.367000	0.80283	0.528000	0.53228	GAG		0.313	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3		46.315344	-7	-7	117	117	NM_017691		15	46.418548	46.418548	19	0.441176	0	0	0	1	0	15	19	0.441176	C	71193327	A	C	71193327	3	2	9	1	0	0	0	0	1	0	0	0	9006	304	11	5	274	5	LRRC49	15	71193327	Missense_Mutation	SNP	A	TCGA-V4-A9EC-01A-11D-A39W-08	47261326	71193327	31338065	21	157											
KRTAP4-4	84616	broad.mit.edu	37	17	39316785	39316785	+	Silent	SNP	G	G	A			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr17:39316785G>A	ENST00000390661.3	-	1	198	c.159C>T	c.(157-159)acC>acT	p.T53T		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	53	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13). {ECO:0000269|PubMed:11279113}.|Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGCAGCAGGTGGTCTGGCAGC	0.672																																						ENST00000390661.3											0			kidney(1)|large_intestine(1)|lung(5)	7						c.(157-159)acC>acT	keratin associated protein 4-4						46	54	51					17																	39316785		2201	4298	6499	SO:0001819	synonymous_variant	84616				keratin filament		g.chr17:39316785G>A	AJ406936	AJ406936	CCDS11383.1	CCDS11383.1	17q21.2	2013-06-25			2013-06-25			ENSG00000171396	ENSG00000171396	ENSG00000171396	ENSG00000171396		"Keratin associated proteins"	"Keratin associated proteins"	16928	16928	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"keratin associated protein 4-13"	KRTAP4-13	"keratin associated protein 4-13"	KRTAP4-13		11279113	11279113	Standard	Standard	NM_032524	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	uc002hwc.3	Q9BYR3	Q9BYR3	OTTHUMG00000133428	OTTHUMG00000133428	ENST00000390661.3:c.159C>T	17.37:g.39316785G>A				p.T53T	NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	198	-		Breast(137;0.000496)	53	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].	Q9BYU7	Silent	SNP	ENST00000390661.3	37	c.159C>T	CCDS11383.1																																																																																									0.672	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1		35.393988	17	17	75	75			12	35.656306	35.656306	18	0.4	0	0	0	1	0	12	18	0.4	A	39316785	G	A	39316785	2	1	9	1	0	0	0	0	0	0	0	1	8553	1335	47	3		3	KRTAP4-4	17	39316785	Silent	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		39316785	41878425	22	158											
DSG1	1828	broad.mit.edu	37	18	28913603	28913603	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr18:28913603G>A	ENST00000257192.4	+	7	948	c.736G>A	c.(736-738)Gca>Aca	p.A246T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGATGGCGGGGCAGATGGCAT	0.428																																						ENST00000257192.4											0			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(736-738)Gca>Aca	desmoglein 1						144	130	135					18																	28913603		2203	4300	6503	SO:0001583	missense	1828			calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28913603G>A	X56654	X56654	CCDS11896.1	CCDS11896.1	18q12.1	2014-05-13			2014-05-13			ENSG00000134760	ENSG00000134760	ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	"Cadherins / Major cadherins"	3048	3048	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			125670	125670		DSG		DSG		1889810	1889810	Standard	Standard	NM_001942	NM_001942		Approved	CDHF4	uc002kwp.3	uc002kwp.3	Q02413	Q02413	OTTHUMG00000131983	OTTHUMG00000131983	ENST00000257192.4:c.736G>A	18.37:g.28913603G>A	ENSP00000257192:p.Ala246Thr			p.A246T	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		7	948	+			246	Cadherin 2.	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.736G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	9.571	1.121016	0.20877	.	.	ENSG00000134760	ENST00000257192	T	0.50813	0.73	5.82	0.68	0.17980	5.82	0.68	0.17980	Cadherin (4);Cadherin-like (1);	0.538614	0.17967	N	0.155976	T	0.30479	0.0766	L	0.35723	1.085	0.44302	D	0.997175	B	0.21520	0.057	B	0.29267	0.1	T	0.05533	-1.0879	10	0.17369	T	0.5	.	2.7782	0.05353	0.165:0.1091:0.5023:0.2237	.	246	Q02413	DSG1_HUMAN	T	246	ENSP00000257192:A246T	ENSP00000257192:A246T	A	+	1	0	0	DSG1	27167601	27167601	0.075000	0.21258	0.338000	0.25549	0.637000	0.38172	0.670000	0.25157	0.083000	0.17047	0.655000	0.94253	GCA		0.428	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		79.644528	-1	-1	57	57	NM_001942		26	79.644528	79.644528	26	0.5	0	0	0	1	0	26	26	0.5	A	28913603	G	A	28913603	3	1	9	1	0	0	0	0	1	0	0	0	4776	1203	42	2	762	2	DSG1	18	28913603	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		28913603	49163645	23	159											
SIM2	6493	broad.mit.edu	37	21	38115707	38115707	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr21:38115707C>T	ENST00000290399.6	+	9	1631	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	SIM2_ENST00000430056.3_Missense_Mutation_p.L340F	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	340	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ATACAAGGAACTTCAGCTGTC	0.587																																						ENST00000290399.6											0			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(1018-1020)Ctt>Ttt	single-minded family bHLH transcription factor 2						92	96	95					21																	38115707		2203	4300	6503	SO:0001583	missense	6493			cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38115707C>T			CCDS13646.1	CCDS13646.1	21q22.2	2013-10-17	2013-10-17		2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263	ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	"Basic helix-loop-helix proteins"	10883	10883	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"transcription factor SIM2"	"transcription factor SIM2"	600892	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	7485157	Standard	Standard	NM_009586	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	uc002yvr.2	Q14190	Q14190	OTTHUMG00000086637	OTTHUMG00000086637	ENST00000290399.6:c.1018C>T	21.37:g.38115707C>T	ENSP00000290399:p.Leu340Phe		SIM2_ENST00000430056.3_Missense_Mutation_p.L340F	p.L340F	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			9	1631	+			340	Single-minded C-terminal.	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.1018C>T	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.53|12.53	1.965967|1.965967	0.34659|0.34659	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.09817|.	2.97;2.94|.	4.49|4.49	1.43|1.43	0.22495|0.22495	4.49|4.49	1.43|1.43	0.22495|0.22495	Single-minded, C-terminal (1);|.	0.064020|.	0.64402|.	D|.	0.000005|.	T|T	0.45657|0.45657	0.1353|0.1353	M|M	0.66939|0.66939	2.045|2.045	0.23926|0.23926	N|N	0.996441|0.996441	D;P|.	0.56287|.	0.975;0.954|.	P;P|.	0.58210|.	0.835;0.826|.	T|T	0.34700|0.34700	-0.9818|-0.9818	10|5	0.87932|.	D|.	0|.	.|.	7.3607|7.3607	0.26745|0.26745	0.1349:0.7116:0.0:0.1536|0.1349:0.7116:0.0:0.1536	.|.	340;340|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	F|I	340|277	ENSP00000290399:L340F;ENSP00000404176:L340F|.	ENSP00000290399:L340F|.	L|T	+|+	1|2	0|0	0|0	SIM2|SIM2	37037577|37037577	37037577|37037577	0.751000|0.751000	0.28327|0.28327	0.052000|0.052000	0.19188|0.19188	0.953000|0.953000	0.61014|0.61014	1.401000|1.401000	0.34589|0.34589	0.435000|0.435000	0.26365|0.26365	0.462000|0.462000	0.41574|0.41574	CTT|ACT		0.587	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1		10.687037	-2	-2	94	94	NM_009586		7	17.657973	17.657973	46	0.132075	0	0	0	1	0	7	46	0.132075	T	38115707	C	T	38115707	3	4	9	1	0	0	0	0	1	0	0	0	14324	565	20	3	1052	3	SIM2	21	38115707	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		38115707	10014188	24	160											
EP300	2033	broad.mit.edu	37	22	41573600	41573600	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chr22:41573600T>C	ENST00000263253.7	+	31	7104	c.5885T>C	c.(5884-5886)aTg>aCg	p.M1962T	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1962					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGACTCCCATGGCCCCCATG	0.597			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(5884-5886)aTg>aCg	E1A binding protein p300						67	65	66					22																	41573600		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573600T>C	U01877	U01877	CCDS14010.1	CCDS14010.1	22q13.2	2011-07-01			2011-07-01			ENSG00000100393	ENSG00000100393	ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	"Chromatin-modifying enzymes / K-acetyltransferases"	3373	3373	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	"histone acetyltransferase p300"	602700	602700						7523245	7523245	Standard	Standard	NM_001429	NM_001429		Approved	p300, KAT3B	uc003azl.4	uc003azl.4	Q09472	Q09472	OTTHUMG00000150937	OTTHUMG00000150937	ENST00000263253.7:c.5885T>C	22.37:g.41573600T>C	ENSP00000263253:p.Met1962Thr		RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.M1962T	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	7104	+			1962		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5885T>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629237	0.28978	.	.	ENSG00000100393	ENST00000263253	D	0.82984	-1.67	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000015	T	0.76644	0.4016	L	0.52364	1.645	0.45205	D	0.998213	B	0.30482	0.281	B	0.21917	0.037	T	0.73190	-0.4061	10	0.15499	T	0.54	-8.3909	15.2854	0.73826	0.0:0.0:0.0:1.0	.	1962	Q09472	EP300_HUMAN	T	1962	ENSP00000263253:M1962T	ENSP00000263253:M1962T	M	+	2	0	0	EP300	39903546	39903546	1.000000	0.71417	0.931000	0.37212	0.549000	0.35272	4.068000	0.57534	2.016000	0.59253	0.459000	0.35465	ATG		0.597	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		81.741499	-37	-37	64	64	NM_001429		26	81.973914	81.973914	34	0.433333	0	0	0	1	0	26	34	0.433333	C	41573600	T	C	41573600	3	2	9	1	0	0	0	0	1	0	0	0	5148	1464	51	4	6007	4	EP300	22	41573600	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08		41573600	9730966	25	161											
EIF1AX	1964	broad.mit.edu	37	X	20156731	20156731	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:20156731C>T	ENST00000379607.5	-	2	229	c.26G>A	c.(25-27)gGt>gAt	p.G9D	snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCTGTTTTTACCTCCTTTACC	0.313																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)gGt>gAt	eukaryotic translation initiation factor 1A, X-linked						143	133	136					X																	20156731		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156731C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.26G>A	X.37:g.20156731C>T	ENSP00000368927:p.Gly9Asp		EIF1AX_ENST00000379593.1_Intron	p.G9D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	229	-			9		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.26G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618536	0.66787	.	.	ENSG00000173674	ENST00000379607	T	0.48201	0.82	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79021	0.4376	H	0.96301	3.8	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.86715	0.1938	9	0.87932	D	0	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	D	9	ENSP00000368927:G9D	ENSP00000368927:G9D	G	-	2	0	0	EIF1AX	20066652	20066652	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		77.401855	-23	-23	152	152			24	77.445234	77.445234	21	0.533333	0	0	0	1	0	24	21	0.533333	T	20156731	C	T	20156731	3	4	9	1	0	0	0	0	1	0	0	0	4992	507	18	3	432	3	EIF1AX	23	20156731	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		20156731	135113829	26	162											
GABRE	2564	broad.mit.edu	37	X	151131076	151131076	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:151131076C>T	ENST00000370328.3	-	4	435	c.382G>A	c.(382-384)Gac>Aac	p.D128N	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.D128N|MIR452_ENST00000385020.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	128					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGCGTTCGTCGTACCAGGTC	0.463																																						ENST00000370325.1											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(382-384)Gac>Aac	gamma-aminobutyric acid (GABA) A receptor, epsilon						175	139	152					X																	151131076		2203	4300	6503	SO:0001583	missense	2564			gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151131076C>T	Y09765	Y09765	CCDS14703.1	CCDS14703.1	Xq28	2012-06-22			2012-06-22			ENSG00000102287	ENSG00000102287	ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	4085	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	"GABA(A) receptor, epsilon"	300093	300093						9039914, 9084408	9039914, 9084408	Standard	Standard	NM_004961	NM_004961		Approved		uc004ffi.3	uc004ffi.3	P78334	P78334	OTTHUMG00000024176	OTTHUMG00000024176	ENST00000370328.3:c.382G>A	X.37:g.151131076C>T	ENSP00000359353:p.Asp128Asn		GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.D128N	p.D128N			P78334	GBRE_HUMAN			4	435	-	Acute lymphoblastic leukemia(192;6.56e-05)		128		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.382G>A	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350148	0.82132	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93547	-3.24;-3.24	5.6	5.6	0.85130	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.52532	D	0.000069	D	0.97548	0.9197	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98567	1.0644	10	0.87932	D	0	.	15.8742	0.79148	0.0:1.0:0.0:0.0	.	128	P78334	GBRE_HUMAN	N	128	ENSP00000359353:D128N;ENSP00000359350:D128N	ENSP00000359350:D128N	D	-	1	0	0	GABRE	150881732	150881732	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	7.818000	0.86416	2.348000	0.79779	0.600000	0.82982	GAC		0.463	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1		117.501382	-24	-24	89	89	NM_004961, NM_021990, NM_021984		36	117.504459	117.504459	35	0.507042	0	0	0	1	0	36	35	0.507042	T	151131076	C	T	151131076	3	4	9	1	0	0	0	0	1	0	0	0	6170	884	31	1	1162	1	GABRE	23	151131076	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08	130974345	151131076	4139484	27	163											
RENBP	5973	broad.mit.edu	37	X	153207074	153207074	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	g.chrX:153207074delG	ENST00000393700.3	-	8	882	c.802delC	c.(802-804)cgtfs	p.R268fs	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_Frame_Shift_Del_p.S240fs|RENBP_ENST00000369997.3_Frame_Shift_Del_p.R254fs	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	268					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ATGCAATGACGGAGCAGAAAC	0.637																																						ENST00000393700.3											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(802-804)cgtfs	renin binding protein						68	61	63					X																	153207074		2203	4300	6503	SO:0001589	frameshift_variant	5973			mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153207074delG			CCDS14738.2	CCDS14738.2	Xq28	2013-09-23	2001-11-28		2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032	ENSG00000102032	ENSG00000102032				9959	9959	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	312420	"renin-binding protein"		"renin-binding protein"			1618798	1618798	Standard	Standard	NM_002910	NM_002910		Approved	RNBP, RBP	uc004fjo.2	uc004fjo.2	P51606	P51606	OTTHUMG00000024224	OTTHUMG00000024224	ENST00000393700.3:c.802delC	X.37:g.153207074delG	ENSP00000377303:p.Arg268fs		RENBP_ENST00000412763.1_Frame_Shift_Del_p.S240fs|RENBP_ENST00000369997.3_Frame_Shift_Del_p.R254fs	p.R268fs	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN			8	882	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		268		B4DNZ3|Q96BI6	Frame_Shift_Del	DEL	ENST00000393700.3	37	c.802delC	CCDS14738.2																																																																																									0.637	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	.	.	-31	-31	75	75	NM_002910		21			46	0.31						21	46	0.31	-	153207074	G	-	153207074	7	5	9	1	0	1	0	1	0	0	0	0	13225	1116	39	0	497	0	RENBP	23	153207074	Frame_Shift_Del	DEL	G	TCGA-V4-A9EC-01A-11D-A39W-08	2075998	153207074	2063486	28	164											
SPEN	23013	broad.mit.edu	37	1	16259500	16259500	+	Silent	SNP	G	G	A	rs374329428		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:16259500G>A	ENST00000375759.3	+	11	6969	c.6765G>A	c.(6763-6765)gcG>gcA	p.A2255A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2255	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTGCACAGGCGCTGCAGCCTT	0.537																																						ENST00000375759.3											0			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6763-6765)gcG>gcA	spen family transcriptional repressor	A		1,4405	2.1+/-5.4	0,1,2202	83	90	88		6765	0.7	0	1		88	0,8600		0,0,4300	no	coding-synonymous	SPEN	NM_015001.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2255/3665	16259500	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23013			interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259500G>A			CCDS164.1	CCDS164.1	1p36	2013-10-17	2013-10-17		2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526	ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	"RNA binding motif (RRM) containing"	17575	17575	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613484	613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"		"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	10451362, 11331609	Standard	Standard	NM_015001	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	uc001axk.1	Q96T58	Q96T58	OTTHUMG00000009376	OTTHUMG00000009376	ENST00000375759.3:c.6765G>A	1.37:g.16259500G>A				p.A2255A	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6969	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2255	Interaction with MSX2 (By similarity).|RID.	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.6765G>A	CCDS164.1																																																																																									0.537	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		-25.232431	-23	-23	105	105	NM_015001		4	6.924838	6.924838	129	0.030075	0	0	0	1	0	4	129	0.030075	A	16259500	G	A	16259500	2	1	10	1	0	0	0	0	0	0	0	1	15037	1074	38	1		1	SPEN	1	16259500	Silent	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		16259500	232991121	1	165											
WDR65	149465	broad.mit.edu	37	1	43663300	43663300	+	Missense_Mutation	SNP	G	G	A	rs372200685		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:43663300G>A	ENST00000372492.4	+	7	1523	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	WDR65_ENST00000528956.1_Missense_Mutation_p.R400H|RNA5SP46_ENST00000362370.1_RNA	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		400								p.R400H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCATCCGCAAACCCCTT	0.458																																						ENST00000372492.4											1	Substitution - Missense(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1198-1200)cGc>cAc	WD repeat domain 65	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	180	153	162		1199,1199,1199	5.8	1	1		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	400/699,400/699,400/699	43663300	1,13005	2203	4300	6503	SO:0001583	missense	149465						g.chr1:43663300G>A																																																	ENST00000372492.4:c.1199G>A	1.37:g.43663300G>A	ENSP00000361570:p.Arg400His		WDR65_ENST00000528956.1_Missense_Mutation_p.R400H	p.R400H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN			7	1523	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	400		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.1199G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.497360	0.96355	0.0	1.16E-4	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.39997	1.05;3.58	5.76	5.76	0.90799	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.75085	2.285	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.57400	-0.7818	10	0.15499	T	0.54	.	19.9634	0.97258	0.0:0.0:1.0:0.0	.	400;400	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	H	400	ENSP00000361570:R400H;ENSP00000435310:R400H	ENSP00000361570:R400H	R	+	2	0	0	WDR65	43435887	43435887	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.209000	0.95087	2.721000	0.93114	0.563000	0.77884	CGC		0.458	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		-20.704491	-23	-23	113	113			4	6.948021	6.948021	113	0.034188	0	0	0	1	0	4	113	0.034188	A	43663300	G	A	43663300	3	1	10	1	0	0	0	0	1	0	0	0	17313	1087	38	1	1221	1	WDR65	1	43663300	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	27403800	43663300	205587321	2	166											
FOXD3	27022	broad.mit.edu	37	1	63790123	63790123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:63790123delC	ENST00000371116.2	+	1	1394	c.1394delC	c.(1393-1395)gccfs	p.A471fs	RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	471	Poly-Ala.				embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						tcggccgccgccgctgctgcg	0.697																																					Pancreas(68;276 1750 11966 31252)	ENST00000371116.2											0			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1393-1395)gccfs	forkhead box D3						2	2	2					1																	63790123		1146	2571	3717	SO:0001589	frameshift_variant	27022			axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:63790123delC	AF197560	AF197560	CCDS624.1	CCDS624.1	1p31.3	2008-04-10			2008-04-10			ENSG00000187140	ENSG00000187140	ENSG00000187140	ENSG00000187140		"Forkhead boxes"	"Forkhead boxes"	3804	3804	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611539	611539						8499623	8499623	Standard	Standard	NM_012183	NM_012183		Approved	Genesis, HFH2	uc001dax.2	uc001dax.2	Q9UJU5	Q9UJU5	OTTHUMG00000009141	OTTHUMG00000009141	ENST00000371116.2:c.1394delC	1.37:g.63790123delC	ENSP00000360157:p.Ala471fs			p.A471fs	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN			1	1394	+			471	Poly-Ala.	Q9BYM2|Q9UDD1	Frame_Shift_Del	DEL	ENST00000371116.2	37	c.1394delC	CCDS624.1																																																																																									0.697	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1	.	.	2	2	3	3			2			4	0.33						2	4	0.33	-	63790123	C	-	63790123	7	5	10	1	0	1	0	1	0	0	0	0	5998	739	26	0	1396	0	FOXD3	1	63790123	Frame_Shift_Del	DEL	C	TCGA-V4-A9ED-01A-11D-A39W-08	20126823	63790123	185460498	3	167											
HSD17B7	51478	broad.mit.edu	37	1	162773243	162773243	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:162773243G>C	ENST00000254521.3	+	6	720	c.665G>C	c.(664-666)tGt>tCt	p.C222S	HSD17B7_ENST00000367917.3_Intron|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	222					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					AATGTGGCCTGTCCAGGTACA	0.413																																						ENST00000254521.3											0			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(664-666)tGt>tCt	hydroxysteroid (17-beta) dehydrogenase 7						84	75	78					1																	162773243		2203	4297	6500	SO:0001583	missense	51478			cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162773243G>C	AF098786	AF098786	CCDS1242.1	CCDS1242.1	1q23	2011-09-14			2011-09-14			ENSG00000132196	ENSG00000132196	ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	5215	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	"short chain dehydrogenase/reductase family 37C, member 1"	606756	606756						10544267, 10419022, 19027726	10544267, 10419022, 19027726	Standard	Standard	NM_016371	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	uc001gci.3	P56937	P56937	OTTHUMG00000034420	OTTHUMG00000034420	ENST00000254521.3:c.665G>C	1.37:g.162773243G>C	ENSP00000254521:p.Cys222Ser		HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Intron	p.C222S	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN			6	720	+	all_hematologic(112;0.115)		222		Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.665G>C	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460799	0.26248	.	.	ENSG00000132196	ENST00000254521	T	0.76839	-1.05	4.68	4.68	0.58851	4.68	4.68	0.58851	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.80183	2.485	0.38606	D	0.950770	D	0.89917	1.0	D	0.77004	0.989	T	0.80605	-0.1308	9	0.17369	T	0.5	-18.6451	14.7956	0.69876	0.0:0.0:1.0:0.0	.	222	P56937	DHB7_HUMAN	S	222	ENSP00000254521:C222S	ENSP00000254521:C222S	C	+	2	0	0	HSD17B7	161039867	161039867	1.000000	0.71417	0.943000	0.38184	0.088000	0.18126	9.090000	0.94144	2.578000	0.87016	0.650000	0.86243	TGT		0.413	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1		63.655355	7	7	64	64	NM_016371		21	65.204516	65.204516	42	0.333333	0	0	0	1	0	21	42	0.333333	C	162773243	G	C	162773243	3	2	10	1	0	0	0	0	1	0	0	0	7388	1377	48	5	687	5	HSD17B7	1	162773243	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	98983120	162773243	86477378	4	168											
DTL	51514	broad.mit.edu	37	1	212220678	212220678	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:212220678G>A	ENST00000366991.4	+	5	693	c.379G>A	c.(379-381)Gta>Ata	p.V127I	DTL_ENST00000542077.1_Missense_Mutation_p.V85I|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	127					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		ATTTTGGGACGTAAAAGCTGG	0.388																																						ENST00000366991.4											0			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(379-381)Gta>Ata	denticleless E3 ubiquitin protein ligase homolog (Drosophila)						210	204	206					1																	212220678		2203	4300	6503	SO:0001583	missense	51514			DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212220678G>A	AF195765	AF195765	CCDS1502.1, CCDS65778.1	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476	ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	30288	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	610617	"denticleless homolog (Drosophila)"		"denticleless homolog (Drosophila)"			11278750	11278750	Standard	Standard	NM_001286229	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	uc009xdc.3	Q9NZJ0	Q9NZJ0	OTTHUMG00000037133	OTTHUMG00000037133	ENST00000366991.4:c.379G>A	1.37:g.212220678G>A	ENSP00000355958:p.Val127Ile		DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.V85I	p.V127I	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	5	693	+			127		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.379G>A	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947507	0.73672	.	.	ENSG00000143476	ENST00000366991;ENST00000542077	T;T	0.19105	2.17;2.17	5.18	4.28	0.50868	5.18	4.28	0.50868	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	N	0.25426	0.745	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.56514	0.8;0.636	T	0.02244	-1.1189	10	0.44086	T	0.13	-16.7073	14.264	0.66104	0.0722:0.0:0.9278:0.0	.	85;127	F5GZ90;Q9NZJ0	.;DTL_HUMAN	I	127;85	ENSP00000355958:V127I;ENSP00000443870:V85I	ENSP00000355958:V127I	V	+	1	0	0	DTL	210287301	210287301	1.000000	0.71417	0.719000	0.30619	0.586000	0.36452	7.058000	0.76676	1.342000	0.45619	-0.119000	0.15052	GTA		0.388	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1		-32.471394	10	10	171	171	NM_016448		5	8.903745	8.903745	165	0.029412	0	0	0	1	0	5	165	0.029412	A	212220678	G	A	212220678	3	1	10	1	0	0	0	0	1	0	0	0	4787	1145	40	1	397	1	DTL	1	212220678	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	49447435	212220678	37029943	5	169											
FAM123C	205147	broad.mit.edu	37	2	131520173	131520173	+	Silent	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr2:131520173G>A	ENST00000423981.1	+	2	638	c.528G>A	c.(526-528)tcG>tcA	p.S176S	AMER3_ENST00000321420.4_Silent_p.S176S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	176					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										ACTTGGCCTCGCTGGCGGCCG	0.642																																						ENST00000423981.1											0										c.(526-528)tcG>tcA	APC membrane recruitment protein 3						45	50	49					2																	131520173		2201	4294	6495	SO:0001819	synonymous_variant	205147						g.chr2:131520173G>A	AK095696	AK095696	CCDS2164.1	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171	ENSG00000178171	ENSG00000178171		"-"	"-"	26771	26771	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"family with sequence similarity 123C"	FAM123C	"family with sequence similarity 123C"	FAM123C		20843316	20843316	Standard	Standard	NM_001105195	NM_001105195		Approved	FLJ38377	uc002trw.2	uc002trw.2	Q8N944	Q8N944	OTTHUMG00000131637	OTTHUMG00000131637	ENST00000423981.1:c.528G>A	2.37:g.131520173G>A			AMER3_ENST00000321420.4_Silent_p.S176S	p.S176S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	638	+					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.528G>A	CCDS2164.1																																																																																									0.642	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		61.834739	-6	-6	77	77	NM_152698		22	62.772327	62.772327	38	0.366667	0	0	0	1	0	22	38	0.366667	A	131520173	G	A	131520173	2	1	10	1	0	0	0	0	0	0	0	1	5424	1074	38	1		1	FAM123C	2	131520173	Silent	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		131520173	111679200	6	170											
RAD54L2	23132	ucsc.edu	37	3	51696598	51696598	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr3:51696598G>T	ENST00000409535.2	+	22	3691	c.3566G>T	c.(3565-3567)cGg>cTg	p.R1189L	RAD54L2_ENST00000296477.3_Missense_Mutation_p.R883L	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1189						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCTGCTGCCCGGGAATCCCGT	0.647																																																	0																	42	47	45					3																	51696598		2203	4300	6503	SO:0001583	missense	23132							AB018352	AB018352	CCDS33765.2	CCDS33765.2	3p21.2	2006-01-17			2006-01-17			ENSG00000164080	ENSG00000164080	ENSG00000164080	ENSG00000164080				29123	29123	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										9872452	9872452	Standard	Standard	NM_015106	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	uc011bdt.2	Q9Y4B4	Q9Y4B4	OTTHUMG00000152936	OTTHUMG00000152936	ENST00000409535.2:c.3566G>T	3.37:g.51696598G>T	ENSP00000386520:p.Arg1189Leu																	Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37		CCDS33765.2	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005907	0.54254	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.93763	-3.19;-3.28	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.250591	0.33161	N	0.005205	D	0.86590	0.5969	N	0.19112	0.55	0.47737	D	0.999502	P;P	0.44690	0.841;0.662	B;B	0.33196	0.159;0.087	D	0.87934	0.2712	10	0.44086	T	0.13	-14.3883	17.7973	0.88577	0.0:0.0:1.0:0.0	.	1189;778	Q9Y4B4;B3KV54	ARIP4_HUMAN;.	L	1189;883	ENSP00000386520:R1189L;ENSP00000296477:R883L	ENSP00000296477:R883L	R	+	2	0	0	RAD54L2	51671638	51671638	0.937000	0.31787	1.000000	0.80357	0.958000	0.62258	2.785000	0.47782	2.435000	0.82474	0.563000	0.77884	CGG		0.647	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2			-11	-11	68	68	NM_015106		4			29							4	29		T	51696598	G	T	51696598	3	4	10	1	0	0	0	0	1	0	0	0	12994	1116	39	5	3648	5	RAD54L2	3	51696598	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		51696598	146325832	7	171											
BAP1	51533	broad.mit.edu	37	3	52443758	52443831	+	5'Flank	DEL	GCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	GCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	-	rs199750231|rs372533362|rs200628603|rs368322638|rs565532102|rs368881929	byFrequency	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr3:52443758_52443831delGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Splice_Site_p.G13fs|BAP1_ENST00000296288.5_Splice_Site_p.G13fs|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.?(2)|p.G13V(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTC	0.701																																						ENST00000460680.1											3	Unknown(2)|Substitution - Missense(1)	eye(2)|kidney(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(37-39)ggg>g	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001631	upstream_gene_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52443758_52443831delGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"Zinc fingers, PHD-type"		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3:g.52443758_52443831delGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	Exception_encountered		PHF7_ENST00000347025.2_5'Flank|PHF7_ENST00000327906.3_5'Flank|BAP1_ENST00000296288.5_Splice_Site_p.G13fs	p.G13fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	2	509_510	-			0	Interaction with HIP2.	K4DI82	Splice_Site	DEL	ENST00000327906.3		c.38_39delGGCTGGGGAGGCCGGATGGGCCCGGGACGCGCCTGCCTGACCATCACCCCCTCCTCTTGTCGCCCCACCCAGGC	CCDS2854.1																																																																																									0.701	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	1.045000e+01	2.821000e+01	-4	-4	28	28	NM_016483		10			6	0.643						10	6	0.643	-	52443831	GCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	-	52443758	6	5	10	0	1	1	0	1	0	0	0	0	1311	1217	42	0		0	BAP1	3	52443758	5'Flank	DEL	GCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	TCGA-V4-A9ED-01A-11D-A39W-08	747160	52443758	145578672	8	172											
PLXND1	23129	broad.mit.edu	37	3	129303286	129303286	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr3:129303286C>A	ENST00000324093.4	-	6	2149	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H	PLXND1_ENST00000393239.1_Missense_Mutation_p.Q657H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	657					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTAGGCAATCTGGTGACCAA	0.637																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1											0			NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(1969-1971)caG>caT	plexin D1						73	68	70					3																	129303286		2203	4300	6503	SO:0001583	missense	23129			axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129303286C>A	AY116661	AY116661	CCDS33854.1	CCDS33854.1	3q21.3	2007-05-16			2007-05-16			ENSG00000004399	ENSG00000004399	ENSG00000004399	ENSG00000004399		"Plexins"	"Plexins"	9107	9107	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604282	604282						12412018	12412018	Standard	Standard	NM_015103	NM_015103		Approved	KIAA0620	uc003emx.2	uc003emx.2	Q9Y4D7	Q9Y4D7	OTTHUMG00000159547	OTTHUMG00000159547	ENST00000324093.4:c.1971G>T	3.37:g.129303286C>A	ENSP00000317128:p.Gln657His		PLXND1_ENST00000324093.4_Missense_Mutation_p.Q657H	p.Q657H			Q9Y4D7	PLXD1_HUMAN			6	2149	-			657		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1971G>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787986	0.49997	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.36520	1.29;1.25	4.77	3.89	0.44902	4.77	3.89	0.44902	.	0.070478	0.56097	D	0.000021	T	0.29355	0.0731	L	0.50333	1.59	0.49915	D	0.999839	B	0.20671	0.047	B	0.17433	0.018	T	0.09314	-1.0680	10	0.39692	T	0.17	.	6.9542	0.24562	0.0:0.7501:0.0:0.2499	.	657	Q9Y4D7	PLXD1_HUMAN	H	657	ENSP00000317128:Q657H;ENSP00000376931:Q657H	ENSP00000317128:Q657H	Q	-	3	2	2	PLXND1	130785976	130785976	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	0.383000	0.20651	1.134000	0.42165	0.561000	0.74099	CAG		0.637	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		0.565294	-6	-6	81	81	NM_015103		4	7.741114	7.741114	39	0.093023	1	0	0.00909568	1	0.00909568	4	39	0.093023	A	129303286	C	A	129303286	3	1	10	1	0	0	0	0	1	0	0	0	12127	912	32	5	3930	5	PLXND1	3	129303286	Missense_Mutation	SNP	C	TCGA-V4-A9ED-01A-11D-A39W-08	76859528	129303286	68719144	9	173											
CEP164	22897	broad.mit.edu	37	11	117267963	117267963	+	Silent	SNP	G	G	A	rs149964584		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr11:117267963G>A	ENST00000278935.3	+	27	3582	c.3435G>A	c.(3433-3435)gcG>gcA	p.A1145A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1145					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGGCCAGTGCGCAGGAGGTGG	0.617													G|||	1	0.000199681	0	0	5008	,	,		18970	0.001		0	False		,,,				2504	0					ENST00000278935.3											0			breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3433-3435)gcG>gcA	centrosomal protein 164kDa						40	38	39					11																	117267963		2201	4296	6497	SO:0001819	synonymous_variant	22897			cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117267963G>A	AB028975	AB028975	CCDS31683.1	CCDS31683.1	11q23.3	2014-02-20			2014-02-20			ENSG00000110274	ENSG00000110274	ENSG00000110274	ENSG00000110274				29182	29182	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614848	614848						10470851, 14654843	10470851, 14654843	Standard	Standard	NM_014956	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	uc001prc.3	Q9UPV0	Q9UPV0	OTTHUMG00000167070	OTTHUMG00000167070	ENST00000278935.3:c.3435G>A	11.37:g.117267963G>A			CEP164_ENST00000533706.1_3'UTR	p.A1145A	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	27	3582	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1145		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.3435G>A	CCDS31683.1																																																																																									0.617	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1		-0.505416	-15	-15	46	46	NM_014956		3	6.640689	6.640689	36	0.076923	0	0	0	1	0	3	36	0.076923	A	117267963	G	A	117267963	2	1	10	1	0	0	0	0	0	0	0	1	3249	1074	38	1		1	CEP164	11	117267963	Silent	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		117267963	17738553	10	174											
ETS1	2113	broad.mit.edu	37	11	128360370	128360370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr11:128360370G>A	ENST00000319397.6	-	2	493	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ETS1_ENST00000345075.4_Nonsense_Mutation_p.R62*|ETS1_ENST00000392668.4_Nonsense_Mutation_p.R106*|ETS1_ENST00000531611.1_Nonsense_Mutation_p.R62*|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Nonsense_Mutation_p.R62*	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	62	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R106*(1)|p.R62*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		ATCCCCAGTCGTTGCTGTTCT	0.438																																						ENST00000392668.4											2	Substitution - Nonsense(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(316-318)Cga>Tga	v-ets avian erythroblastosis virus E26 oncogene homolog 1						137	125	129					11																	128360370		2201	4297	6498	SO:0001587	stop_gained	2113			cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128360370G>A			CCDS8475.1, CCDS44767.1, CCDS53724.1	CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954	ENSG00000134954	ENSG00000134954				3488	3488	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720	164720		EWSR2		EWSR2		1522903	1522903	Standard	Standard	NM_005238	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	uc001qej.2	P14921	P14921	OTTHUMG00000165799	OTTHUMG00000165799	ENST00000319397.6:c.184C>T	11.37:g.128360370G>A	ENSP00000324578:p.Arg62*		ETS1_ENST00000319397.6_Nonsense_Mutation_p.R62*|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Nonsense_Mutation_p.R62*|ETS1_ENST00000531611.1_Nonsense_Mutation_p.R62*|ETS1_ENST00000345075.4_Nonsense_Mutation_p.R62*	p.R106*	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	4	400	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		PNT.	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Nonsense_Mutation	SNP	ENST00000319397.6	37	c.316C>T	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	38	7.156526	0.98103	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	.	.	.	5.65	1.24	0.21308	5.65	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2744	0.73732	0.0:0.0:0.4534:0.5466	.	.	.	.	X	62;106;62;62;62	.	ENSP00000324578:R62X	R	-	1	2	2	ETS1	127865580	127865580	1.000000	0.71417	0.967000	0.41034	0.971000	0.66376	1.649000	0.37281	-0.047000	0.13423	0.563000	0.77884	CGA		0.438	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2		27.660076	12	12	125	125	NM_005238		15	39.632675	39.632675	86	0.148515	0	0	0	1	0	15	86	0.148515	A	128360370	G	A	128360370	4	1	10	1	0	0	0	0	0	1	0	0	5275	1153	40	1	1169	1	ETS1	11	128360370	Nonsense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	11092407	128360370	6646146	11	175											
NACA	4666	broad.mit.edu	37	12	57113149	57113149	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr12:57113149G>A	ENST00000454682.1	-	3	2446	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	722	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CACTAAGGTAGCCAGAGGAGC	0.512			T	BCL6	NHL																																	ENST00000454682.1		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2164-2166)gCt>gTt	nascent polypeptide-associated complex alpha subunit						29	27	28					12																	57113149		1568	3582	5150	SO:0001583	missense	4666			interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57113149G>A	X80909	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	ENSG00000196531	ENSG00000196531				7629	7629	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601234	601234	"nascent-polypeptide-associated complex alpha polypeptide"		"nascent-polypeptide-associated complex alpha polypeptide"			8047162	8047162	Standard	Standard	NM_001113202	NM_001113202		Approved	NACA1	uc001sma.2	uc001sma.2	E9PAV3	E9PAV3			ENST00000454682.1:c.2165C>T	12.37:g.57113149G>A	ENSP00000403817:p.Ala722Val		NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	p.A722V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	2446	-			0			Missense_Mutation	SNP	ENST00000454682.1	37	c.2165C>T		.	.	.	.	.	.	.	.	.	.	G	10.76	1.440380	0.25900	.	.	ENSG00000196531	ENST00000454682	T	0.52983	0.64	3.33	3.33	0.38152	3.33	3.33	0.38152	.	.	.	.	.	T	0.30947	0.0781	.	.	.	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.10613	-1.0622	7	.	.	.	.	10.531	0.44977	0.0:0.0:1.0:0.0	.	722	E9PAV3	.	V	722	ENSP00000403817:A722V	.	A	-	2	0	0	NACA	55399416	55399416	0.000000	0.05858	0.002000	0.10522	0.077000	0.17291	0.069000	0.14552	1.578000	0.49821	0.449000	0.29647	GCT		0.512	NACA-201	KNOWN	basic	protein_coding	protein_coding			28.677330	-7	-7	21	21	NM_005594		9	28.808411	28.808411	6	0.6	0	0	0	1	0	9	6	0.6	A	57113149	G	A	57113149	3	1	10	1	0	0	0	0	1	0	0	0	10133	971	34	2	4099	2	NACA	12	57113149	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		57113149	76738746	12	176											
CYSLTR2	57105	broad.mit.edu	37	13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATTTATTTCCTGACCGTGCTG	0.468																																						ENST00000282018.3											0			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(385-387)cTg>cAg	cysteinyl leukotriene receptor 2						209	201	204					13																	49281339		2203	4300	6503	SO:0001583	missense	57105			immune response	integral to membrane|plasma membrane		g.chr13:49281339T>A	AB038269	AB038269	CCDS9412.1	CCDS9412.1	13q14.2	2012-08-10			2012-08-10			ENSG00000152207	ENSG00000152207	ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	"GPCR / Class A : Leukotriene receptors"	18274	18274	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605666	605666						10913337, 1085123	10913337, 1085123	Standard	Standard	NM_020377	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	uc001vck.2	Q9NS75	Q9NS75	OTTHUMG00000016906	OTTHUMG00000016906	ENST00000282018.3:c.386T>A	13.37:g.49281339T>A	ENSP00000282018:p.Leu129Gln			p.L129Q	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	389	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	129		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.386T>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679001	0.88542	.	.	ENSG00000152207	ENST00000282018	D	0.81579	-1.51	6.08	6.08	0.98989	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	D	0.93756	0.8004	H	0.97783	4.075	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.95820	0.8849	10	0.87932	D	0	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	129	Q9NS75	CLTR2_HUMAN	Q	129	ENSP00000282018:L129Q	ENSP00000282018:L129Q	L	+	2	0	0	CYSLTR2	48179340	48179340	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.004000	0.88535	2.333000	0.79357	0.533000	0.62120	CTG		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		257.200558	40	40	193	193			83	258.325435	258.325435	115	0.419192	0	0	0	1	0	83	115	0.419192	A	49281339	T	A	49281339	3	1	10	1	0	0	0	0	1	0	0	0	4202	1580	55	5	388	5	CYSLTR2	13	49281339	Missense_Mutation	SNP	T	TCGA-V4-A9ED-01A-11D-A39W-08		49281339	65888539	13	177											
LMO7	4008	broad.mit.edu	37	13	76379755	76379755	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr13:76379755G>A	ENST00000321797.8	+	7	1077	c.356G>A	c.(355-357)cGc>cAc	p.R119H	LMO7_ENST00000357063.3_Missense_Mutation_p.R404H|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	404	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTTATGTGCGCAAGCTCAGT	0.413																																						ENST00000357063.3											0			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1210-1212)cGc>cAc	LIM domain 7						322	289	299					13																	76379755		1568	3582	5150	SO:0001583	missense	4008				cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379755G>A	AF092557	AF092557	CCDS9454.1, CCDS53876.1	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153	ENSG00000136153	ENSG00000136153				6646	6646	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"F-box only protein 20"	"F-box only protein 20"	604362	604362	"LIM domain only 7"	FBXO20	"LIM domain only 7"	FBXO20		9826547, 10531035	9826547, 10531035	Standard	Standard	NM_005358	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	uc021rkq.1	Q8WWI1	Q8WWI1	OTTHUMG00000017093	OTTHUMG00000017093	ENST00000321797.8:c.356G>A	13.37:g.76379755G>A	ENSP00000317802:p.Arg119His		LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.R119H	p.R404H			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2471	+		Breast(118;0.0992)	404		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1211G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.668026	0.88348	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.73962	2.25	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.78763	-0.2077	10	0.87932	D	0	-11.2894	20.3363	0.98740	0.0:0.0:1.0:0.0	.	119	E9PLH4	.	H	404;404;119;119;119	ENSP00000349571:R404H;ENSP00000366757:R404H;ENSP00000317802:R119H;ENSP00000433352:R119H;ENSP00000432269:R119H	ENSP00000317802:R119H	R	+	2	0	0	LMO7	75277756	75277756	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	8.765000	0.91724	2.814000	0.96858	0.563000	0.77884	CGC		0.413	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3		-46.975137	-5	-5	190	190	NM_005358		4	6.456836	6.456836	202	0.019417	0	0	0	1	0	4	202	0.019417	A	76379755	G	A	76379755	3	1	10	1	0	0	0	0	1	0	0	0	8855	1087	38	1	1249	1	LMO7	13	76379755	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	27098416	76379755	38790123	14	178											
ACCN1	40	broad.mit.edu	37	17	32483180	32483180	+	Silent	SNP	C	C	T			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr17:32483180C>T	ENST00000359872.6	-	1	1133	c.372G>A	c.(370-372)ccG>ccA	p.P124P		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	124					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GATGGGGGTCCGGGATCTGCA	0.597																																						ENST00000359872.6											0										c.(370-372)ccG>ccA	acid-sensing (proton-gated) ion channel 2						81	92	88					17																	32483180		2161	4264	6425	SO:0001819	synonymous_variant	40			central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483180C>T	AL834182	AL834182	CCDS11276.1, CCDS42296.1	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	"Ion channels / Acid-sensing (proton-gated) ion channels"	99	99	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"degenerin"	"degenerin"	601784	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	8921408	Standard	Standard	NM_183377	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	uc002hhu.3	Q16515	Q16515	OTTHUMG00000132885	OTTHUMG00000132885	ENST00000359872.6:c.372G>A	17.37:g.32483180C>T				p.P124P	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1133	-			124		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.372G>A	CCDS42296.1																																																																																									0.597	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1		93.113109	8	8	88	88	NM_183377, NM_001094		31	93.829402	93.829402	47	0.397436	0	0	0	1	0	31	47	0.397436	T	32483180	C	T	32483180	2	4	10	1	0	0	0	0	0	0	0	1	128	639	23	1		1	ACCN1	17	32483180	Silent	SNP	C	TCGA-V4-A9ED-01A-11D-A39W-08		32483180	48712030	15	179											
SBNO2	22904	broad.mit.edu	37	19	1122978	1122978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr19:1122978delG	ENST00000361757.3	-	8	932	c.695delC	c.(694-696)ccafs	p.P232fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P232fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.P175fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	232					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGATGTCTGGGGGTGGGAC	0.662																																						ENST00000361757.3											0			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(694-696)ccafs	strawberry notch homolog 2 (Drosophila)						48	50	49					19																	1122978		2172	4259	6431	SO:0001589	frameshift_variant	22904			macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1122978delG	AK074102	AK074102	CCDS45894.1, CCDS45895.1	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932		ENSG00000064932				29158	29158	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615729	615729	"KIAA0963"	KIAA0963	"KIAA0963"	KIAA0963		10231032	10231032	Standard	Standard	NM_014963	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	uc002lrk.4	Q9Y2G9	Q9Y2G9			ENST00000361757.3:c.695delC	19.37:g.1122978delG	ENSP00000354733:p.Pro232fs		SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P232fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.P175fs	p.P232fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	932	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	232		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Frame_Shift_Del	DEL	ENST00000361757.3	37	c.695delC	CCDS45894.1																																																																																									0.662	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	.	.	-7	-7	4	4	NM_014963		3			6	0.33						3	6	0.33	-	1122978	G	-	1122978	7	5	10	1	0	1	0	1	0	0	0	0	13863	1348	47	0	3505	0	SBNO2	19	1122978	Frame_Shift_Del	DEL	G	TCGA-V4-A9ED-01A-11D-A39W-08		1122978	58006005	16	180											
BCAS1	8537	broad.mit.edu	37	20	52570145	52570145	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr20:52570145G>C	ENST00000395961.3	-	11	1672	c.1506C>G	c.(1504-1506)gaC>gaG	p.D502E	BCAS1_ENST00000371440.3_Missense_Mutation_p.D511E|BCAS1_ENST00000434986.2_Missense_Mutation_p.D168E|BCAS1_ENST00000371435.2_Missense_Mutation_p.D424E	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	502						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTGACTTCTTGTCCTTCGAGG	0.532																																						ENST00000395961.3											0			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1504-1506)gaC>gaG	breast carcinoma amplified sequence 1						246	189	208					20																	52570145		2203	4300	6503	SO:0001583	missense	8537				cytoplasm	protein binding	g.chr20:52570145G>C	AF041260	AF041260	CCDS13444.1	CCDS13444.1	20q13.2	2006-11-10			2006-11-10			ENSG00000064787	ENSG00000064787	ENSG00000064787	ENSG00000064787				974	974	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602968	602968						9671742	9671742	Standard	Standard	NM_003657	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	uc002xws.2	O75363	O75363	OTTHUMG00000032772	OTTHUMG00000032772	ENST00000395961.3:c.1506C>G	20.37:g.52570145G>C	ENSP00000379290:p.Asp502Glu		BCAS1_ENST00000434986.2_Missense_Mutation_p.D168E|BCAS1_ENST00000371440.3_Missense_Mutation_p.D511E|BCAS1_ENST00000371435.2_Missense_Mutation_p.D424E	p.D502E	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1672	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		502		A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1506C>G	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.413451|3.413451	0.62511|0.62511	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986|ENST00000422805	T;T;T;T;T|.	0.10763|.	2.84;2.84;2.84;2.84;2.84|.	5.17|5.17	1.85|1.85	0.25348|0.25348	5.17|5.17	1.85|1.85	0.25348|0.25348	.|.	0.355510|.	0.27181|.	N|.	0.020555|.	T|T	0.69513|0.69513	0.3119|0.3119	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	B;D;P;D;D;D|.	0.89917|.	0.369;0.996;0.715;0.996;1.0;1.0|.	B;D;B;D;D;D|.	0.83275|.	0.242;0.99;0.242;0.99;0.996;0.996|.	T|T	0.68542|0.68542	-0.5381|-0.5381	10|5	0.06365|.	T|.	0.9|.	-11.4327|-11.4327	13.9608|13.9608	0.64177|0.64177	0.0:0.4399:0.5601:0.0|0.0:0.4399:0.5601:0.0	.|.	502;168;511;424;502;502|.	B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363|.	.;.;.;.;.;BCAS1_HUMAN|.	E|R	373;511;302;502;424;168|165	ENSP00000396361:D373E;ENSP00000360495:D511E;ENSP00000379290:D502E;ENSP00000360490:D424E;ENSP00000409956:D168E|.	ENSP00000360490:D424E|.	D|T	-|-	3|2	2|0	2|0	BCAS1|BCAS1	52003552|52003552	52003552|52003552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.637000|0.637000	0.38172|0.38172	3.133000|3.133000	0.50531|0.50531	0.507000|0.507000	0.28148|0.28148	0.555000|0.555000	0.69702|0.69702	GAC|ACA		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2		107.068024	-15	-15	69	69	NM_003657		33	107.302698	107.302698	42	0.44	0	0	0	1	0	33	42	0.44	C	52570145	G	C	52570145	3	2	10	1	0	0	0	0	1	0	0	0	1350	1368	48	5	256	5	BCAS1	20	52570145	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		52570145	10455375	17	181											
PCNT	5116	broad.mit.edu	37	21	47845774	47845774	+	Silent	SNP	C	C	T			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr21:47845774C>T	ENST00000359568.5	+	33	7316	c.7209C>T	c.(7207-7209)agC>agT	p.S2403S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2403					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGACGAGAGCCACCAGATCC	0.637																																						ENST00000359568.5											0			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7207-7209)agC>agT	pericentrin						82	80	81					21																	47845774		2203	4300	6503	SO:0001819	synonymous_variant	5116			cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47845774C>T	AB007862	AB007862	CCDS33592.1	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	ENSG00000160299	ENSG00000160299				16068	16068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	"kendrin", "Seckel syndrome 4"	605925	605925	"pericentrin 2 (kendrin)"	PCNT2	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	8812505, 9455477	Standard	Standard	NM_006031	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	uc002zji.4	O95613	O95613	OTTHUMG00000090665	OTTHUMG00000090665	ENST00000359568.5:c.7209C>T	21.37:g.47845774C>T			PCNT_ENST00000480896.1_3'UTR	p.S2403S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			33	7316	+	Breast(49;0.112)		2403		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.7209C>T	CCDS33592.1																																																																																									0.637	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		-12.979379	-11	-11	94	94	NM_006031		4	7.570087	7.570087	88	0.043478	0	0	0	1	0	4	88	0.043478	T	47845774	C	T	47845774	2	4	10	1	0	0	0	0	0	0	0	1	11590	738	26	2		2	PCNT	21	47845774	Silent	SNP	C	TCGA-V4-A9ED-01A-11D-A39W-08		47845774	284121	18	182											
ZBTB7B	51043	broad.mit.edu	37	1	154987749	154987749	+	Missense_Mutation	SNP	C	C	T	rs199978828		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr1:154987749C>T	ENST00000368426.3	+	3	750	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R239W|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R205W|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R205W	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	205					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGCAAGCCCCGGAAAGCTTT	0.647																																						ENST00000368426.3											0			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(613-615)Cgg>Tgg	zinc finger and BTB domain containing 7B						34	40	38					1																	154987749		2201	4297	6498	SO:0001583	missense	51043			cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987749C>T	AF007833	AF007833	CCDS1081.1, CCDS58030.1	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	18668	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	"zinc finger and BTB domain containing 15"	607646	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	9370309, 7937772	Standard	Standard	NR_045515	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	uc010peq.3	O15156	O15156	OTTHUMG00000037414	OTTHUMG00000037414	ENST00000368426.3:c.613C>T	1.37:g.154987749C>T	ENSP00000357411:p.Arg205Trp		ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R205W|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R239W|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R205W	p.R205W	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	750	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		205		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.613C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227362	0.79576	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.10099	2.95;2.95;2.91;2.95	4.09	4.09	0.47781	4.09	4.09	0.47781	.	0.477271	0.19272	N	0.118382	T	0.12178	0.0296	L	0.27053	0.805	0.47698	D	0.999497	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.03344	-1.1046	10	0.66056	D	0.02	.	11.6405	0.51230	0.0:1.0:0.0:0.0	.	205;205;239	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	W	205;205;239;205	ENSP00000438647:R205W;ENSP00000357411:R205W;ENSP00000406286:R239W;ENSP00000292176:R205W	ENSP00000292176:R205W	R	+	1	2	2	ZBTB7B	153254373	153254373	0.998000	0.40836	0.997000	0.53966	0.946000	0.59487	1.699000	0.37804	2.105000	0.64084	0.462000	0.41574	CGG		0.647	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1		38.262832	-28	-28	44	44	NM_015872		13	39.348995	39.348995	27	0.325	0	0	0	1	0	13	27	0.325	T	154987749	C	T	154987749	3	4	11	1	0	0	0	0	1	0	0	0	17551	643	23	1	615	1	ZBTB7B	1	154987749	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		154987749	94262872	1	183											
SLC26A9	115019	broad.mit.edu	37	1	205897160	205897160	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr1:205897160G>A	ENST00000367135.3	-	9	1084	c.971C>T	c.(970-972)tCg>tTg	p.S324L	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S324L|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S324L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	324					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GACCACAGGCGACACCGGGGT	0.627																																						ENST00000367135.3											0			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(970-972)tCg>tTg	solute carrier family 26 (anion exchanger), member 9						48	44	45					1																	205897160		2203	4300	6503	SO:0001583	missense	115019				integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205897160G>A	AF331525	AF331525	CCDS30989.1, CCDS30990.1	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502	ENSG00000174502	ENSG00000174502		"Solute carriers"	"Solute carriers"	14469	14469	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	"anion transporter/exchanger-9"	608481	608481	"solute carrier family 26, member 9"		"solute carrier family 26, member 9"			11834742	11834742	Standard	Standard	NM_134325	NM_134325		Approved		uc001hdp.3	uc001hdp.3	Q7LBE3	Q7LBE3	OTTHUMG00000036001	OTTHUMG00000036001	ENST00000367135.3:c.971C>T	1.37:g.205897160G>A	ENSP00000356103:p.Ser324Leu		SLC26A9_ENST00000367134.2_Missense_Mutation_p.S324L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S324L	p.S324L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		9	1084	-	Breast(84;0.201)		324		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.971C>T	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	8.094	0.775066	0.16051	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.91011	-2.77;-2.77;-2.77	5.08	-5.06	0.02946	5.08	-5.06	0.02946	Sulphate transporter (1);	0.940463	0.08820	N	0.888975	T	0.64238	0.2580	N	0.00395	-1.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.62978	-0.6739	10	0.05959	T	0.93	.	10.9397	0.47266	0.7013:0.1102:0.1885:0.0	.	324;324	Q7LBE3;B1AVM8	S26A9_HUMAN;.	L	324	ENSP00000341682:S324L;ENSP00000356103:S324L;ENSP00000356102:S324L	ENSP00000341682:S324L	S	-	2	0	0	SLC26A9	204163783	204163783	0.000000	0.05858	0.003000	0.11579	0.578000	0.36192	0.109000	0.15417	-1.365000	0.02158	-0.136000	0.14681	TCG		0.627	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1		36.297902	-6	-6	24	24	NM_052934		12	36.331299	36.331299	14	0.461538	0	0	0	1	0	12	14	0.461538	A	205897160	G	A	205897160	3	1	11	1	0	0	0	0	1	0	0	0	14524	1059	37	1	1752	1	SLC26A9	1	205897160	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	50909411	205897160	43353461	2	184											
BAP1	8314	broad.mit.edu	37	3	52441415	52441535	+	Splice_Site	DEL	CTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	CTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	-	rs374928824|rs374410140|rs201707820|rs372943588|rs370668123|rs369277958	byFrequency	TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr3:52441415_52441535delCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	ENST00000460680.1	-	6	847_908	c.376_437delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCAG	c.(376-438)acccatagtcctacctgaggagaaattattctgatacggccttattttcttccccgtagagca>a	p.THSPT*GEIILIRPYFLPRRA126fs	BAP1_ENST00000296288.5_Splice_Site_p.THSPT*GEIILIRPYFLPRRA126fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(2)|p.H144N(1)|p.H144fs*43(1)|p.E136*(1)|p.P135Q(1)|p.G128R(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAA	0.536			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	7	Substitution - Missense(3)|Unknown(2)|Deletion - Frameshift(1)|Substitution - Nonsense(1)	eye(3)|lung(2)|kidney(2)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(376-438)acccatagtcctacctgaggagaaattattctgatacggccttattttcttccccgtagagca>a	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001630	splice_region_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52441415_52441535delCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.376-1ACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCAG>-	3:g.52441415_52441535delCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT			BAP1_ENST00000296288.5_Splice_Site_p.THSPT*GEIILIRPYFLPRRA126fs	p.THSPT*GEIILIRPYFLPRRA126fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	6	847_908	-			0	Interaction with HIP2.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	DEL	ENST00000460680.1		c.376_437delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCAG	CCDS2853.1																																																																																									0.536	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	3.247000e+01	1.676000e+01	-40	-40	69	69		Frame_Shift_Del	6			25	0.2						6	25	0.2	-	52441535	CTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	-	52441415	8	5	11	1	0	1	0	1	0	0	1	0	1311	695	24	0	1800	0	BAP1	3	52441415	Splice_Site	DEL	CTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	TCGA-V4-A9EE-01A-11D-A39W-08		52441415	145581015	3	185											
RGS12	6002	broad.mit.edu	37	4	3419159	3419159	+	Silent	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr4:3419159G>A	ENST00000344733.5	+	9	3556	c.2652G>A	c.(2650-2652)ctG>ctA	p.L884L	RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000336727.3_Silent_p.L884L|RGS12_ENST00000306648.7_Silent_p.L282L|RGS12_ENST00000382788.3_Silent_p.L884L|RGS12_ENST00000538395.1_Silent_p.L226L|RGS12_ENST00000338806.4_Silent_p.L236L|RGS12_ENST00000508158.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	884					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGAAGAGCTGGGGGATGAGG	0.498																																						ENST00000336727.3											0			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2650-2652)ctG>ctA	regulator of G-protein signaling 12						46	49	48					4																	3419159		2203	4300	6503	SO:0001819	synonymous_variant	6002				condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3419159G>A	AF035152	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788	ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	"Regulators of G-protein signaling"	9994	9994	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602512	602512	"regulator of G-protein signalling 12"		"regulator of G-protein signalling 12"			9651375	9651375	Standard	Standard	NM_198229	NM_198229		Approved		uc003ggw.3	uc003ggw.3	O14924	O14924	OTTHUMG00000090277	OTTHUMG00000090277	ENST00000344733.5:c.2652G>A	4.37:g.3419159G>A			RGS12_ENST00000306648.7_Silent_p.L282L|RGS12_ENST00000338806.4_Silent_p.L236L|RGS12_ENST00000538395.1_Silent_p.L226L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000344733.5_Silent_p.L884L|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Silent_p.L884L	p.L884L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	3556	+			884		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.2652G>A	CCDS3366.1																																																																																									0.498	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		44.314335	-12	-12	35	35	NM_002926		15	44.86336	44.86336	25	0.375	0	0	0	1	0	15	25	0.375	A	3419159	G	A	3419159	2	1	11	1	0	0	0	0	0	0	0	1	13295	1335	47	3		3	RGS12	4	3419159	Silent	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08		3419159	187735117	4	186											
EVC	2121	broad.mit.edu	37	4	5798849	5798849	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr4:5798849C>T	ENST00000264956.6	+	14	2171	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	EVC_ENST00000382674.2_Missense_Mutation_p.R663W|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	663					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GACGCAGATGCGGCTATCGGG	0.677																																						ENST00000382674.2											0			NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1987-1989)Cgg>Tgg	Ellis van Creveld syndrome						43	42	42					4																	5798849		2203	4300	6503	SO:0001583	missense	2121			muscle organ development	integral to membrane		g.chr4:5798849C>T	AF216184	AF216184	CCDS3383.1	CCDS3383.1	4p16	2008-07-03			2008-07-03			ENSG00000072840	ENSG00000072840	ENSG00000072840	ENSG00000072840				3497	3497	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604831	604831						10700184	10700184	Standard	Standard	NM_153717	NM_153717		Approved	DWF-1	uc003gil.1	uc003gil.1	P57679	P57679	OTTHUMG00000090427	OTTHUMG00000090427	ENST00000264956.6:c.1987C>T	4.37:g.5798849C>T	ENSP00000264956:p.Arg663Trp		EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.R663W	p.R663W			P57679	EVC_HUMAN			14	2171	+		Myeloproliferative disorder(84;0.117)	663			Missense_Mutation	SNP	ENST00000264956.6	37	c.1987C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598476	0.66332	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.62639	0.01;0.01	5.04	-3.25	0.05079	5.04	-3.25	0.05079	.	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77768	-0.2464	10	0.87932	D	0	.	17.6432	0.88142	0.2058:0.7942:0.0:0.0	.	663	P57679	EVC_HUMAN	W	663	ENSP00000264956:R663W;ENSP00000372120:R663W	ENSP00000264956:R663W	R	+	1	2	2	EVC	5849750	5849750	0.512000	0.26186	0.982000	0.44146	0.656000	0.38851	0.084000	0.14891	-0.392000	0.07751	-0.293000	0.09583	CGG		0.677	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		-0.644183	-24	-24	34	34			3	6.977666	6.977666	38	0.073171	0	0	0	1	0	3	38	0.073171	T	5798849	C	T	5798849	3	4	11	1	0	0	0	0	1	0	0	0	5285	759	27	1	2041	1	EVC	4	5798849	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08	2379690	5798849	185355427	5	187											
KIF13B	23303	broad.mit.edu	37	8	29024912	29024912	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr8:29024912C>T	ENST00000524189.1	-	11	1174	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	KIF13B_ENST00000521515.1_Missense_Mutation_p.R379Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	379					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCCCGGAGTTTCTC	0.552																																						ENST00000524189.1											0			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(1135-1137)cGg>cAg	kinesin family member 13B						36	36	36					8																	29024912		1954	4156	6110	SO:0001583	missense	23303			microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29024912C>T	AB014539	AB014539	CCDS55217.1	CCDS55217.1	8p21	2008-07-30			2008-07-30				ENSG00000197892		ENSG00000197892		"Kinesins"	"Kinesins"	14405	14405	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607350	607350						9734811, 10859302, 16864656	9734811, 10859302, 16864656	Standard	Standard	NM_015254	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	uc003xhh.4	Q9NQT8	Q9NQT8			ENST00000524189.1:c.1136G>A	8.37:g.29024912C>T	ENSP00000427900:p.Arg379Gln		KIF13B_ENST00000521515.1_Missense_Mutation_p.R379Q	p.R379Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	11	1174	-		Ovarian(32;0.000536)	379		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.1136G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769807	0.69992	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.78246	-1.16;-1.09	4.52	4.52	0.55395	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	L	0.45581	1.43	0.80722	D	1	D;D;P	0.71674	0.997;0.998;0.946	D;P;P	0.70227	0.968;0.812;0.606	D	0.85911	0.1440	10	0.62326	D	0.03	.	17.4419	0.87567	0.0:1.0:0.0:0.0	.	365;379;379	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	Q	379	ENSP00000427900:R379Q;ENSP00000429201:R379Q	ENSP00000429201:R379Q	R	-	2	0	0	KIF13B	29080831	29080831	0.992000	0.36948	0.990000	0.47175	0.982000	0.71751	3.163000	0.50763	2.347000	0.79759	0.561000	0.74099	CGG		0.552	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		95.209216	-3	-3	26	26			28	95.585906	95.585906	19	0.595745	0	0	0	1	0	28	19	0.595745	T	29024912	C	T	29024912	3	4	11	1	0	0	0	0	1	0	0	0	8275	652	23	1	4464	1	KIF13B	8	29024912	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		29024912	117339110	6	188											
RALYL	138046	broad.mit.edu	37	8	85799947	85799947	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr8:85799947C>T	ENST00000521268.1	+	8	1899	c.794C>T	c.(793-795)gCc>gTc	p.A265V	RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Missense_Mutation_p.A278V|RALYL_ENST00000521695.1_Missense_Mutation_p.A265V|RALYL_ENST00000522455.1_Missense_Mutation_p.A265V|RALYL_ENST00000523850.1_Missense_Mutation_p.A192V|RALYL_ENST00000518566.1_Missense_Mutation_p.A254V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	265							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GGGCCAGATGCCGATGGAGAA	0.488																																						ENST00000521268.1											0			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(793-795)gCc>gTc	RALY RNA binding protein-like						150	154	153					8																	85799947		2007	4178	6185	SO:0001583	missense	138046					identical protein binding|nucleotide binding|RNA binding	g.chr8:85799947C>T			CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			2013-07-16			ENSG00000184672	ENSG00000184672	ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	"RNA binding motif (RRM) containing"	27036	27036	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614648	614648						12688537	12688537	Standard	Standard	NM_001100391	NM_001100391		Approved	HNRPCL3	uc003yct.4	uc003yct.4	Q86SE5	Q86SE5	OTTHUMG00000164628	OTTHUMG00000164628	ENST00000521268.1:c.794C>T	8.37:g.85799947C>T	ENSP00000430367:p.Ala265Val		RALYL_ENST00000518566.1_Missense_Mutation_p.A254V|RALYL_ENST00000517638.1_Missense_Mutation_p.A278V|RALYL_ENST00000522455.1_Missense_Mutation_p.A265V|RALYL_ENST00000523850.1_Missense_Mutation_p.A192V|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000521695.1_Missense_Mutation_p.A265V	p.A265V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN			8	1899	+			265		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.794C>T	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098964	0.37048	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.14144	2.94;2.94;2.94;2.96;2.94;2.53	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.295105	0.32068	N	0.006622	T	0.10035	0.0246	N	0.13043	0.29	0.80722	D	1	B;B;B;B	0.15930	0.003;0.015;0.015;0.008	B;B;B;B	0.16289	0.001;0.015;0.009;0.002	T	0.17501	-1.0367	10	0.35671	T	0.21	-8.5446	16.1174	0.81319	0.0:0.7977:0.2023:0.0	.	254;192;278;265	B3KT61;Q86SE5-2;G3V129;Q86SE5	.;.;.;RALYL_HUMAN	V	265;265;265;254;278;192	ENSP00000430394:A265V;ENSP00000428667:A265V;ENSP00000430367:A265V;ENSP00000430065:A254V;ENSP00000430128:A278V;ENSP00000428807:A192V	ENSP00000430128:A278V	A	+	2	0	0	RALYL	85962502	85962502	1.000000	0.71417	0.932000	0.37286	0.902000	0.53008	3.471000	0.53107	2.562000	0.86427	0.561000	0.74099	GCC		0.488	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		-49.980140	-20	-20	78	78			4	6.37457	6.37457	212	0.018519	0	0	0	1	0	4	212	0.018519	T	85799947	C	T	85799947	3	4	11	1	0	0	0	0	1	0	0	0	13020	739	26	2	863	2	RALYL	8	85799947	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08	56775035	85799947	60564075	7	189											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		111.080561	-43	-43	69	69	NM_002072		33	111.211037	111.211037	27	0.55	0	0	0	1	0	33	27	0.55	G	80409488	T	G	80409488	3	3	11	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08		80409488	60803943	8	190											
ZNF79	7633	broad.mit.edu	37	9	130206861	130206861	+	Silent	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:130206861G>A	ENST00000342483.5	+	5	1288	c.882G>A	c.(880-882)caG>caA	p.Q294Q	ZNF79_ENST00000543471.1_Silent_p.Q270Q	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	294					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTCTTGTTCAGCATCAGAGAA	0.542																																						ENST00000342483.5											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(880-882)caG>caA	zinc finger protein 79						123	107	112					9																	130206861		2203	4300	6503	SO:0001819	synonymous_variant	7633			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206861G>A	X65232	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152	ENSG00000196152	ENSG00000196152		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	13153	13153	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			194552	194552	"zinc finger protein 79 (pT7)"		"zinc finger protein 79 (pT7)"			8478004	8478004	Standard	Standard	NM_007135	NM_007135		Approved	pT7	uc004bqw.4	uc004bqw.4	Q15937	Q15937	OTTHUMG00000020703	OTTHUMG00000020703	ENST00000342483.5:c.882G>A	9.37:g.130206861G>A			ZNF79_ENST00000543471.1_Silent_p.Q270Q	p.Q294Q	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1288	+			294		Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.882G>A	CCDS6871.1																																																																																									0.542	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1		-3.115855	-26	-26	82	82	NM_007135		3	6.46065	6.46065	45	0.0625	0	0	0	1	0	3	45	0.0625	A	130206861	G	A	130206861	2	1	11	1	0	0	0	0	0	0	0	1	18158	962	34	2		2	ZNF79	9	130206861	Silent	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	49797373	130206861	11006570	9	191											
PMPCA	23203	broad.mit.edu	37	9	139316331	139316331	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:139316331G>A	ENST00000371717.3	+	12	1320	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	PMPCA_ENST00000399219.3_Missense_Mutation_p.M306I	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	437					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGCTCATGATGAACCTGGAAT	0.622																																						ENST00000371717.3											0			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(1309-1311)atG>atA	peptidase (mitochondrial processing) alpha						100	81	88					9																	139316331		2203	4300	6503	SO:0001583	missense	23203			proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139316331G>A	D21064	D21064	CCDS35180.1, CCDS65192.1	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688	ENSG00000165688	ENSG00000165688				18667	18667	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613036	613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	8590280, 7788527	Standard	Standard	NM_015160	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	uc004chl.3	Q10713	Q10713	OTTHUMG00000020926	OTTHUMG00000020926	ENST00000371717.3:c.1311G>A	9.37:g.139316331G>A	ENSP00000360782:p.Met437Ile		PMPCA_ENST00000399219.3_Missense_Mutation_p.M306I	p.M437I	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	12	1320	+		Myeloproliferative disorder(178;0.0821)	437		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1311G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989561	0.93106	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.32272	1.46;1.46;1.46	5.04	5.04	0.67666	5.04	5.04	0.67666	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.92555	3.32	0.80722	D	1	P;D;D	0.89917	0.949;1.0;1.0	P;D;D	0.91635	0.636;0.999;0.999	T	0.75921	-0.3147	10	0.72032	D	0.01	.	17.3968	0.87448	0.0:0.0:1.0:0.0	.	306;437;437	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	I	437;306;145	ENSP00000360782:M437I;ENSP00000416702:M306I;ENSP00000408393:M145I	ENSP00000360782:M437I	M	+	3	0	0	PMPCA	138436152	138436152	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.474000	0.97718	2.332000	0.79248	0.655000	0.94253	ATG		0.622	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1		82.096152	-25	-25	36	36	NM_015160		25	82.652824	82.652824	15	0.625	0	0	0	1	0	25	15	0.625	A	139316331	G	A	139316331	3	1	11	1	0	0	0	0	1	0	0	0	12140	1290	45	3	1357	3	PMPCA	9	139316331	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	9109470	139316331	1897100	10	192											
CHAT	1103	broad.mit.edu	37	10	50863168	50863168	+	Silent	SNP	C	C	T	rs145370753		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr10:50863168C>T	ENST00000337653.2	+	12	1815	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	CHAT_ENST00000395559.2_Silent_p.Y436Y|CHAT_ENST00000339797.1_Silent_p.Y436Y|CHAT_ENST00000395562.2_Silent_p.Y472Y|CHAT_ENST00000351556.3_Silent_p.Y436Y|CHAT_ENST00000455728.2_Silent_p.Y436Y	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	554					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TGCCCACCTACGAGAGCGCGT	0.527																																						ENST00000395562.2											0			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1414-1416)taC>taT	choline O-acetyltransferase	C	,,,,,,	0,4406		0,0,2203	56	57	57		1308,1416,1308,1662,1308,1308,1308	-3.8	1	10	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	436/631,472/667,436/631,554/749,436/631,436/631,436/631	50863168	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1103			neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50863168C>T	AF305907	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	ENSG00000070748	ENSG00000070748	2.3.1.6			1912	1912	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			118490	118490	"choline acetyltransferase"		"choline acetyltransferase"			1840566	1840566	Standard	Standard	NM_020984	NM_020984		Approved		uc001jhz.2	uc001jhz.2	P28329	P28329	OTTHUMG00000018198	OTTHUMG00000018198	ENST00000337653.2:c.1662C>T	10.37:g.50863168C>T			CHAT_ENST00000339797.1_Silent_p.Y436Y|CHAT_ENST00000455728.2_Silent_p.Y436Y|CHAT_ENST00000337653.2_Silent_p.Y554Y|CHAT_ENST00000395559.2_Silent_p.Y436Y|CHAT_ENST00000351556.3_Silent_p.Y436Y	p.Y472Y	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	13	1885	+		all_neural(218;0.107)	554		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.1416C>T	CCDS7232.1																																																																																									0.527	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1		81.682250	-35	-35	55	55	NM_020549		28	82.549839	82.549839	45	0.383562	0	0	0	1	0	28	45	0.383562	T	50863168	C	T	50863168	2	4	11	1	0	0	0	0	0	0	0	1	3313	547	19	1		1	CHAT	10	50863168	Silent	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		50863168	84671579	11	193											
OR51B6	390058	broad.mit.edu	37	11	5372973	5372973	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr11:5372973T>C	ENST00000380219.1	+	1	236	c.236T>C	c.(235-237)gTg>gCg	p.V79A	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	79					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCCCACAGTGCTAGGTGTT	0.478																																						ENST00000380219.1											0			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(235-237)gTg>gCg	olfactory receptor, family 51, subfamily B, member 6						133	122	126					11																	5372973		2201	4297	6498	SO:0001583	missense	390058			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5372973T>C			CCDS31379.1	CCDS31379.1	11p15.4	2012-08-09			2012-08-09			ENSG00000176239	ENSG00000176239	ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	19600	19600	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004750	NM_001004750		Approved		uc010qzb.2	uc010qzb.2	Q9H340	Q9H340	OTTHUMG00000066669	OTTHUMG00000066669	ENST00000380219.1:c.236T>C	11.37:g.5372973T>C	ENSP00000369568:p.Val79Ala		HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.V79A	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	236	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	79			Missense_Mutation	SNP	ENST00000380219.1	37	c.236T>C	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066574	0.36470	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.03124	4.04	5.15	5.15	0.70609	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000201	T	0.08492	0.0211	M	0.61703	1.905	0.31894	N	0.616853	P	0.35307	0.494	B	0.41202	0.35	T	0.00942	-1.1506	10	0.87932	D	0	.	13.9298	0.63989	0.0:0.0:0.0:1.0	.	79	Q9H340	O51B6_HUMAN	A	78;79	ENSP00000369568:V79A	ENSP00000369568:V79A	V	+	2	0	0	OR51B6	5329549	5329549	0.001000	0.12720	0.915000	0.36163	0.380000	0.30137	1.169000	0.31871	2.157000	0.67596	0.455000	0.32223	GTG		0.478	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1		142.962572	-18	-18	75	75	NM_001004750		45	143.944684	143.944684	27	0.625	0	0	0	1	0	45	27	0.625	C	5372973	T	C	5372973	3	2	11	1	0	0	0	0	1	0	0	0	11092	1696	59	4	238	4	OR51B6	11	5372973	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08		5372973	129633543	12	194											
MTNR1B	4544	broad.mit.edu	37	11	92703062	92703062	+	Silent	SNP	C	C	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr11:92703062C>A	ENST00000257068.2	+	1	177	c.171C>A	c.(169-171)ggC>ggA	p.G57G		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	57					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ACGTCGTGGGCAACCTCCTGG	0.682																																						ENST00000257068.2											0			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(169-171)ggC>ggA	melatonin receptor 1B						35	28	31					11																	92703062		2200	4296	6496	SO:0001819	synonymous_variant	4544			G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92703062C>A	AB033598	AB033598	CCDS8290.1	CCDS8290.1	11q21-q22	2012-08-08			2012-08-08			ENSG00000134640	ENSG00000134640	ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	"GPCR / Class A : Melatonin receptors"	7464	7464	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600804	600804								Standard	Standard	NM_005959	NM_005959		Approved		uc001pdk.1	uc001pdk.1	P49286	P49286	OTTHUMG00000167364	OTTHUMG00000167364	ENST00000257068.2:c.171C>A	11.37:g.92703062C>A				p.G57G	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			1	177	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	57			Silent	SNP	ENST00000257068.2	37	c.171C>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	6.963	0.547606	0.13312	.	.	ENSG00000134640	ENST00000528076	.	.	.	4.57	1.55	0.23275	4.57	1.55	0.23275	.	.	.	.	.	T	0.53433	0.1796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39702	-0.9601	4	.	.	.	-21.4303	6.1095	0.20092	0.0:0.6661:0.1587:0.1752	.	.	.	.	E	38	.	.	A	+	2	0	0	MTNR1B	92342710	92342710	0.949000	0.32298	0.955000	0.39395	0.159000	0.22180	-0.034000	0.12225	0.029000	0.15352	-0.157000	0.13467	GCA		0.682	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		11.798134	-2	-2	22	22			4	11.885539	11.885539	6	0.4	1	0	0.0215528	1	0.0215528	4	6	0.4	A	92703062	C	A	92703062	2	1	11	1	0	0	0	0	0	0	0	1	9952	697	25	5		5	MTNR1B	11	92703062	Silent	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08	87330089	92703062	42303454	13	195											
SAP18	10284	hgsc.bcm.edu	37	13	21721323	21721323	+	Splice_Site	SNP	A	A	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr13:21721323A>C	ENST00000607003.1	+	4	337		c.e4-1		SAP18_ENST00000382533.4_Splice_Site			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa						mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		TCTTTCTTACAGAGTTAAGGA	0.403																																																	0																	81	82	82					13																	21721323		2203	4300	6503	SO:0001630	splice_region_variant	10284							U96915	U96915	CCDS9295.2	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459	ENSG00000150459	ENSG00000150459				10530	10530	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602949	602949	"sin3A-associated protein, 18kDa"		"sin3A-associated protein, 18kDa"			9150135	9150135	Standard	Standard	NM_005870	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	uc001uns.3	O00422	O00422	OTTHUMG00000016535	OTTHUMG00000016535	ENST00000607003.1:c.306-1A>C	13.37:g.21721323A>C																		B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Splice_Site	SNP	ENST00000607003.1	37			.	.	.	.	.	.	.	.	.	.	A	15.37	2.813283	0.50527	.	.	ENSG00000150459	ENST00000382533;ENST00000450573	.	.	.	4.51	4.51	0.55191	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8228	0.57702	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	SAP18	20619323	20619323	1.000000	0.71417	0.993000	0.49108	0.682000	0.39822	9.066000	0.93949	2.009000	0.58944	0.482000	0.46254	.		0.403	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1			0	0	78	78	NM_005870	Intron	8			96							8	96		C	21721323	A	C	21721323	5	2	11	1	0	0	0	0	0	0	1	0	13832	202	7	5	375	5	SAP18	13	21721323	Splice_Site	SNP	A	TCGA-V4-A9EE-01A-11D-A39W-08		21721323	93448555	14	196											
FBN1	2200	broad.mit.edu	37	15	48730066	48730066	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:48730066G>A	ENST00000316623.5	-	51	6667	c.6212C>T	c.(6211-6213)tCa>tTa	p.S2071L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2071	TB 8.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTGGGTGATGAACACTTTCC	0.493																																						ENST00000316623.5											0			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(6211-6213)tCa>tTa	fibrillin 1						165	146	153					15																	48730066		2198	4296	6494	SO:0001583	missense	2200			heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48730066G>A	X63556	X63556	CCDS32232.1	CCDS32232.1	15q21.1	2014-09-17	2006-04-25		2014-09-17	2006-04-25			ENSG00000166147		ENSG00000166147				3603	3603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Marfan syndrome"	"Marfan syndrome"	134797	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	10036187, 12525539	Standard	Standard	NM_000138	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	uc001zwx.2	P35555	P35555			ENST00000316623.5:c.6212C>T	15.37:g.48730066G>A	ENSP00000325527:p.Ser2071Leu			p.S2071L	NM_000138.4	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	51	6667	-		all_lung(180;0.00279)	2071	TB 8.	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6212C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214719	0.58452	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93659	-3.26	5.65	5.65	0.86999	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.437603	0.26213	N	0.025677	D	0.92361	0.7576	M	0.64260	1.97	0.80722	D	1	P	0.34462	0.454	B	0.34931	0.192	D	0.90027	0.4132	10	0.29301	T	0.29	.	19.5069	0.95121	0.0:0.0:1.0:0.0	.	2071	P35555	FBN1_HUMAN	L	2071;639;961	ENSP00000325527:S2071L	ENSP00000325527:S2071L	S	-	2	0	0	FBN1	46517358	46517358	1.000000	0.71417	0.935000	0.37517	0.900000	0.52787	3.258000	0.51507	2.941000	0.99782	0.655000	0.94253	TCA		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		92.972331	-6	-6	132	132			32	94.8527	94.8527	60	0.347826	0	0	0	1	0	32	60	0.347826	A	48730066	G	A	48730066	3	1	11	1	0	0	0	0	1	0	0	0	5702	1294	45	3	2467	3	FBN1	15	48730066	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08		48730066	53801326	15	197	1	2									
FBN1	2200	broad.mit.edu	37	15	48730067	48730067	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:48730067A>G	ENST00000316623.5	-	51	6666	c.6211T>C	c.(6211-6213)Tca>Cca	p.S2071P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2071	TB 8.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGGGTGATGAACACTTTCCT	0.493																																						ENST00000316623.5											0			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(6211-6213)Tca>Cca	fibrillin 1						166	147	154					15																	48730067		2198	4296	6494	SO:0001583	missense	2200			heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48730067A>G	X63556	X63556	CCDS32232.1	CCDS32232.1	15q21.1	2014-09-17	2006-04-25		2014-09-17	2006-04-25			ENSG00000166147		ENSG00000166147				3603	3603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Marfan syndrome"	"Marfan syndrome"	134797	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	10036187, 12525539	Standard	Standard	NM_000138	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	uc001zwx.2	P35555	P35555			ENST00000316623.5:c.6211T>C	15.37:g.48730067A>G	ENSP00000325527:p.Ser2071Pro			p.S2071P	NM_000138.4	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	51	6666	-		all_lung(180;0.00279)	2071	TB 8.	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6211T>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760190	0.69763	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93712	-3.27	5.52	4.39	0.52855	5.52	4.39	0.52855	Matrix fibril-associated (3);TGF-beta binding (1);	0.437603	0.26213	N	0.025677	D	0.93413	0.7899	M	0.80982	2.52	0.80722	D	1	P	0.47191	0.891	P	0.48368	0.575	D	0.91847	0.5488	10	0.51188	T	0.08	.	6.5568	0.22464	0.7897:0.0:0.0732:0.1371	.	2071	P35555	FBN1_HUMAN	P	2071;639;961	ENSP00000325527:S2071P	ENSP00000325527:S2071P	S	-	1	0	0	FBN1	46517359	46517359	1.000000	0.71417	0.956000	0.39512	0.893000	0.52053	3.053000	0.49901	1.101000	0.41535	0.460000	0.39030	TCA		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		101.973891	-6	-6	129	129			32	103.969771	103.969771	61	0.344086	0	0	0	1	0	32	61	0.344086	G	48730067	A	G	48730067	3	3	11	1	0	0	0	0	1	0	0	0	5702	246	9	4	2468	4	FBN1	15	48730067	Missense_Mutation	SNP	A	TCGA-V4-A9EE-01A-11D-A39W-08	1	48730067	53801325	16	198	1	2									
EFTUD1	79631	broad.mit.edu	37	15	82517553	82517553	+	Silent	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:82517553G>A	ENST00000268206.7	-	12	1413	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S	EFTUD1_ENST00000561331.1_5'Flank|EFTUD1_ENST00000359445.3_Silent_p.S364S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	415					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAAACATTTTGGAAACAAATA	0.378																																						ENST00000268206.7											0			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1243-1245)tcC>tcT	elongation factor Tu GTP binding domain containing 1						64	60	61					15																	82517553		1837	4092	5929	SO:0001819	synonymous_variant	79631			mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82517553G>A	AK056656	AK056656	CCDS42070.1, CCDS42071.1	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			2012-07-04			ENSG00000140598	ENSG00000140598	ENSG00000140598	ENSG00000140598				25789	25789	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"	"ribosome assembly 1 homolog (yeast)"								14702039	14702039	Standard	Standard	NM_024580	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	uc002bgt.1	Q7Z2Z2	Q7Z2Z2	OTTHUMG00000172573	OTTHUMG00000172573	ENST00000268206.7:c.1245C>T	15.37:g.82517553G>A			EFTUD1_ENST00000359445.3_Silent_p.S364S	p.S415S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			12	1413	-			415		A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	c.1245C>T	CCDS42071.1																																																																																									0.378	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1		43.743821	-19	-19	40	40	NM_024580		14	43.975049	43.975049	20	0.411765	0	0	0	1	0	14	20	0.411765	A	82517553	G	A	82517553	2	1	11	1	0	0	0	0	0	0	0	1	4960	1335	47	3		3	EFTUD1	15	82517553	Silent	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	33787486	82517553	20013839	17	199											
HDAC5	10014	broad.mit.edu	37	17	42157822	42157822	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr17:42157822C>G	ENST00000393622.2	-	22	3103	c.2772G>C	c.(2770-2772)tgG>tgC	p.W924C	HDAC5_ENST00000586802.1_Missense_Mutation_p.W924C|HDAC5_ENST00000225983.6_Missense_Mutation_p.W925C|HDAC5_ENST00000336057.5_Missense_Mutation_p.W839C	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	924	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CACCTCCTGTCCATGCCACGT	0.592																																						ENST00000225983.6											0			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2773-2775)tgG>tgC	histone deacetylase 5						113	104	107					17																	42157822		2203	4300	6503	SO:0001583	missense	10014			B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42157822C>G	AF249731	AF249731	CCDS32663.1, CCDS45696.1	CCDS32663.1, CCDS45696.1	17q21	2008-07-18			2008-07-18							3.5.1.98			14068	14068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605315	605315						10220385, 9610721	10220385, 9610721	Standard	Standard	XM_005256905	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	uc002iff.1	Q9UQL6	Q9UQL6			ENST00000393622.2:c.2772G>C	17.37:g.42157822C>G	ENSP00000377244:p.Trp924Cys		HDAC5_ENST00000393622.2_Missense_Mutation_p.W924C|HDAC5_ENST00000586802.1_Missense_Mutation_p.W924C|HDAC5_ENST00000336057.5_Missense_Mutation_p.W839C	p.W925C			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	22	3098	-		Breast(137;0.00637)|Prostate(33;0.0313)	924	Histone deacetylase.	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2775G>C	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051972	0.75960	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.70282	-0.47;-0.47;-0.47	4.82	4.82	0.62117	4.82	4.82	0.62117	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.88474	0.6446	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.996;0.998	D	0.91694	0.5368	10	0.87932	D	0	-10.2938	16.824	0.85926	0.0:1.0:0.0:0.0	.	839;925;924	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	C	925;924;839	ENSP00000225983:W925C;ENSP00000377244:W924C;ENSP00000337290:W839C	ENSP00000225983:W925C	W	-	3	0	0	HDAC5	39513348	39513348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.978000	0.40598	2.522000	0.85027	0.655000	0.94253	TGG		0.592	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1		72.249308	-51	-51	49	49	NM_001015053		22	72.268094	72.268094	24	0.478261	0	0	0	1	0	22	24	0.478261	G	42157822	C	G	42157822	3	3	11	1	0	0	0	0	1	0	0	0	7010	856	30	5	620	5	HDAC5	17	42157822	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		42157822	39037388	18	200											
SBK2	646643	broad.mit.edu	37	19	56041168	56041168	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr19:56041168G>A	ENST00000413299.1	-	4	1016	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	SBK2_ENST00000344158.3_Missense_Mutation_p.R327C	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCAGGGGCGCCCCAGGTGC	0.736																																						ENST00000413299.1											0			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(979-981)Cgc>Tgc	SH3 domain binding kinase family, member 2						14	20	18					19																	56041168		2034	4168	6202	SO:0001583	missense	646643					ATP binding|protein serine/threonine kinase activity	g.chr19:56041168G>A			CCDS42631.1	CCDS42631.1	19q13.42	2013-09-27	2013-09-27		2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550	ENSG00000187550	ENSG00000187550				34416	34416	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"SH3-binding domain kinase family, member 2"		"SH3-binding domain kinase family, member 2"					Standard	Standard	NM_001101401	NM_001101401		Approved	SGK069	uc010ygc.2	uc010ygc.2	P0C263	P0C263	OTTHUMG00000155830	OTTHUMG00000155830	ENST00000413299.1:c.979C>T	19.37:g.56041168G>A	ENSP00000389015:p.Arg327Cys		SBK2_ENST00000344158.3_Missense_Mutation_p.R327C	p.R327C	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			4	1016	-			327	Protein kinase.		Missense_Mutation	SNP	ENST00000413299.1	37	c.979C>T	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	G	7.939	0.742396	0.15642	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.70869	-0.52;-0.52	3.85	3.85	0.44370	3.85	3.85	0.44370	Protein kinase, catalytic domain (1);	1.839090	0.02871	U	0.131554	T	0.60117	0.2244	N	0.24115	0.695	0.09310	N	0.999999	B	0.17667	0.023	B	0.14023	0.01	T	0.47983	-0.9074	10	0.51188	T	0.08	-6.4477	7.4852	0.27427	0.1178:0.0:0.8822:0.0	.	327	P0C263	SBK2_HUMAN	C	327	ENSP00000389015:R327C;ENSP00000345044:R327C	ENSP00000345044:R327C	R	-	1	0	0	SBK2	60732980	60732980	0.000000	0.05858	0.439000	0.26833	0.155000	0.21991	0.340000	0.19892	2.165000	0.68154	0.467000	0.42956	CGC		0.736	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1		7.986491	-15	-15	16	16	NM_001101401		4	10.079295	10.079295	18	0.181818	0	0	0	1	0	4	18	0.181818	A	56041168	G	A	56041168	3	1	11	1	0	0	0	0	1	0	0	0	13861	1087	38	1	70	1	SBK2	19	56041168	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08		56041168	3087815	19	201											
DSTN	11034	broad.mit.edu	37	20	17581467	17581471	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr20:17581467_17581471delAAGAA	ENST00000246069.7	+	2	434_438	c.88_92delAAGAA	c.(88-93)aagaaafs	p.KK30fs	DSTN_ENST00000474024.1_Frame_Shift_Del_p.KK13fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	30	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGAAATCAAGAAAAGAAAGAAG	0.385																																						ENST00000246069.7											0			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(88-93)aagaaafs	destrin (actin depolymerizing factor)																																			SO:0001589	frameshift_variant	11034			actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581467_17581471delAAGAA	S65738	S65738	CCDS13127.1, CCDS46580.1	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			2010-08-20			ENSG00000125868	ENSG00000125868	ENSG00000125868	ENSG00000125868				15750	15750	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609114	609114						8399167, 2156828	8399167, 2156828	Standard	Standard	NM_006870	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	uc002wpr.3	P60981	P60981	OTTHUMG00000031947	OTTHUMG00000031947	ENST00000246069.7:c.88_92delAAGAA	20.37:g.17581472_17581476delAAGAA	ENSP00000246069:p.Lys30fs		DSTN_ENST00000474024.1_Frame_Shift_Del_p.KK13fs	p.KK30fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	434_438	+				ADF-H.	B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Del	DEL	ENST00000246069.7	37	c.88_92delAAGAA	CCDS13127.1																																																																																									0.385	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	.	.	-28	-28	31	31	NM_001011546		19			50	0.28						19	50	0.28	-	17581471	AAGAA	-	17581467	7	5	11	1	0	1	0	1	0	0	0	0	4784	131	5	0	94	0	DSTN	20	17581467	Frame_Shift_Del	DEL	AAGAA	TCGA-V4-A9EE-01A-11D-A39W-08		17581467	45444053	20	202											
TBC1D10A	83874	broad.mit.edu	37	22	30690061	30690061	+	Silent	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr22:30690061C>T	ENST00000215790.7	-	7	908	c.744G>A	c.(742-744)ctG>ctA	p.L248L	RP1-130H16.18_ENST00000447976.1_Silent_p.L122L|TBC1D10A_ENST00000403477.3_Silent_p.L255L|TBC1D10A_ENST00000403362.1_Silent_p.L160L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	248	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCTTCTGCAACAGCGAGAAAA	0.602																																						ENST00000215790.7											0			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(742-744)ctG>ctA	TBC1 domain family, member 10A						129	118	122					22																	30690061		2203	4300	6503	SO:0001819	synonymous_variant	83874				intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30690061C>T	AF331038	AF331038	CCDS13874.1, CCDS56227.1	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992	ENSG00000099992	ENSG00000099992				23609	23609	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	"EBP50-PDZ interactor of 64 kD"	610020	610020	"TBC1 domain family, member 10"	TBC1D10	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	11285285, 20404108	Standard	Standard	NM_001204240	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	uc010gvu.3	Q9BXI6	Q9BXI6	OTTHUMG00000150924	OTTHUMG00000150924	ENST00000215790.7:c.744G>A	22.37:g.30690061C>T			RP1-130H16.18_ENST00000447976.1_Silent_p.L122L|TBC1D10A_ENST00000403362.1_Silent_p.L160L|TBC1D10A_ENST00000403477.3_Silent_p.L255L	p.L248L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			7	908	-			248	Rab-GAP TBC.	B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.744G>A	CCDS13874.1																																																																																									0.602	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1		76.643779	-20	-20	71	71	NM_031937		26	76.739158	76.739158	31	0.45614	0	0	0	1	0	26	31	0.45614	T	30690061	C	T	30690061	2	4	11	1	0	0	0	0	0	0	0	1	15595	465	17	3		3	TBC1D10A	22	30690061	Silent	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		30690061	20614505	21	203											
ZNF157	7712	broad.mit.edu	37	X	47272125	47272125	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chrX:47272125T>C	ENST00000377073.3	+	4	739	c.653T>C	c.(652-654)tTt>tCt	p.F218S		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	218					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAGAGGCCCTTTGAATGTAAT	0.438																																						ENST00000377073.3											0			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(652-654)tTt>tCt	zinc finger protein 157						64	58	60					X																	47272125		2203	4300	6503	SO:0001583	missense	7712			negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272125T>C	U28687	U28687	CCDS14278.1	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117	ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	12942	12942	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300024	300024	"zinc finger protein 157 (HZF22)"		"zinc finger protein 157 (HZF22)"			8586441	8586441	Standard	Standard	NM_003446	NM_003446		Approved	HZF22	uc004dhr.1	uc004dhr.1	P51786	P51786	OTTHUMG00000021443	OTTHUMG00000021443	ENST00000377073.3:c.653T>C	X.37:g.47272125T>C	ENSP00000366273:p.Phe218Ser			p.F218S	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	739	+			218		Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.653T>C	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298904	0.40694	.	.	ENSG00000147117	ENST00000377073	T	0.24908	1.83	2.87	-0.686	0.11324	2.87	-0.686	0.11324	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37320	0.0999	M	0.89353	3.025	0.18873	N	0.999981	P	0.49307	0.922	P	0.46825	0.528	T	0.29792	-1.0000	9	0.87932	D	0	.	6.3279	0.21255	0.4938:0.0:0.0:0.5062	.	218	P51786	ZN157_HUMAN	S	218	ENSP00000366273:F218S	ENSP00000366273:F218S	F	+	2	0	0	ZNF157	47157069	47157069	0.001000	0.12720	0.407000	0.26434	0.946000	0.59487	-0.161000	0.10026	-0.169000	0.10834	0.430000	0.28490	TTT		0.438	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1		104.531066	-26	-26	20	20	NM_003446		29	109.810079	109.810079	3	0.90625	0	0	0	1	0	29	3	0.90625	C	47272125	T	C	47272125	3	2	11	1	0	0	0	0	1	0	0	0	17734	1841	64	4	667	4	ZNF157	23	47272125	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08		47272125	107998435	22	204											
GLA	2717	broad.mit.edu	37	X	100653465	100653465	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chrX:100653465T>C	ENST00000218516.3	-	6	913	c.892A>G	c.(892-894)Aat>Gat	p.N298D	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'Flank	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	298			N -> H (in FD). {ECO:0000269|PubMed:11668641, ECO:0000269|PubMed:8875188}.|N -> K (in FD). {ECO:0000269|PubMed:8807334}.|N -> S (in FD). {ECO:0000269|PubMed:9100224}.		glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGGAGGTCATTAGACATGAAT	0.493																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3											0			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14	GRCh37	CM960774	GLA	M		c.(892-894)Aat>Gat	galactosidase, alpha						140	136	138					X																	100653465		2203	4300	6503	SO:0001583	missense	2717			glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100653465T>C	X16889	X16889	CCDS14484.1	CCDS14484.1	Xq21.3-q22	2014-09-17			2014-09-17			ENSG00000102393	ENSG00000102393	ENSG00000102393	ENSG00000102393	3.2.1.22			4296	4296	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300644	300644								Standard	Standard	NM_000169	NM_000169		Approved	GALA	uc004ehl.1	uc004ehl.1	P06280	P06280	OTTHUMG00000022026	OTTHUMG00000022026	ENST00000218516.3:c.892A>G	X.37:g.100653465T>C	ENSP00000218516:p.Asn298Asp		RPL36A-HNRNPH2_ENST00000409170.3_Intron	p.N298D	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN			6	913	-			298		Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.892A>G	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593064	0.86953	.	.	ENSG00000102393	ENST00000218516	D	0.99683	-6.39	5.91	4.73	0.59995	5.91	4.73	0.59995	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.080242	0.85682	D	0.000000	D	0.99629	0.9864	.	.	.	0.46167	D	0.998904	D	0.89917	1.0	D	0.76071	0.987	D	0.98104	1.0416	9	0.56958	D	0.05	-14.5514	12.4053	0.55436	0.0:0.0:0.1384:0.8616	.	298	P06280	AGAL_HUMAN	D	298	ENSP00000218516:N298D	ENSP00000218516:N298D	N	-	1	0	0	GLA	100540121	100540121	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	8.040000	0.89188	0.826000	0.34661	0.486000	0.48141	AAT		0.493	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1		260.315726	-120	-120	87	87			73	270.869964	270.869964	12	0.858824	0	0	0	1	0	73	12	0.858824	C	100653465	T	C	100653465	3	2	11	1	0	0	0	0	1	0	0	0	6426	1754	61	4	405	4	GLA	23	100653465	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08	53381340	100653465	54617095	23	205											
DNAH1	25981	broad.mit.edu	37	3	52393383	52393384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:52393383_52393384insC	ENST00000420323.2	+	26	4649_4650	c.4388_4389insC	c.(4387-4392)ttccccfs	p.FP1463fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1463	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCCAACTGTTCCCCCAGCTCT	0.639																																						ENST00000420323.2											0			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4387-4392)ttccccfs	dynein, axonemal, heavy chain 1																																			SO:0001589	frameshift_variant	25981			ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52393383_52393384insC	U61738	U61738	CCDS46842.1	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841	ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	"Axonemal dyneins"	2940	2940	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603332	603332	"dynein, axonemal, heavy polypeptide 1"		"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	8812413, 9256245	Standard	Standard	NM_015512	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	uc011bef.2	Q9P2D7	Q9P2D7	OTTHUMG00000158378	OTTHUMG00000158378	ENST00000420323.2:c.4393dupC	3.37:g.52393388_52393388dupC	ENSP00000401514:p.Phe1463fs			p.FP1463fs	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	26	4649_4650	+			1463	Stem (By similarity).	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Ins	INS	ENST00000420323.2	37	c.4388_4389insC	CCDS46842.1																																																																																									0.639	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	.	.	-8	-8	10	10	NM_015512		2			4	0.33						2	4	0.33	C	52393384	-	C	52393383	7	5	12	1	0	1	1	0	0	0	0	0	4597	1783	62	0	4486	0	DNAH1	3	52393383	Frame_Shift_Ins	INS	-	TCGA-V4-A9EF-01A-21D-A39W-08		52393383	145629047	1	206											
BAP1	8314	broad.mit.edu	37	3	52440383	52440383	+	Nonsense_Mutation	SNP	G	G	C			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:52440383G>C	ENST00000460680.1	-	9	1140	c.669C>G	c.(667-669)taC>taG	p.Y223*	BAP1_ENST00000296288.5_Intron	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGATGTCGTGGTAGGGCTCCC	0.627			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(667-669)taC>taG	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						74	59	64					3																	52440383		2203	4300	6503	SO:0001587	stop_gained	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52440383G>C	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.669C>G	3.37:g.52440383G>C	ENSP00000417132:p.Tyr223*		BAP1_ENST00000296288.5_Intron	p.Y223*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	9	1140	-			223		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	c.669C>G	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	39	7.895614	0.98548	.	.	ENSG00000163930	ENST00000460680	.	.	.	6.04	4.01	0.46588	6.04	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.643	8.0278	0.30446	0.3157:0.0:0.6843:0.0	.	.	.	.	X	223	.	ENSP00000417132:Y223X	Y	-	3	2	2	BAP1	52415423	52415423	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.222000	0.58580	1.539000	0.49286	0.650000	0.86243	TAC		0.627	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		103.721474	-17	-17	35	35			29	105.598191	105.598191	1	0.966667	0	0	0	1	0	29	1	0.966667	C	52440383	G	C	52440383	4	2	12	1	0	0	0	0	0	1	0	0	1311	1256	44	5	1556	5	BAP1	3	52440383	Nonsense_Mutation	SNP	G	TCGA-V4-A9EF-01A-21D-A39W-08	47000	52440383	145582047	2	207											
GOLGB1	2804	broad.mit.edu	37	3	121438591	121438591	+	Silent	SNP	G	G	T			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:121438591G>T	ENST00000340645.5	-	7	783	c.658C>A	c.(658-660)Cga>Aga	p.R220R	GOLGB1_ENST00000393667.3_Silent_p.R225R	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	220					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTTCTCTCGGACCACCTGC	0.438																																						ENST00000393667.3											0			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(673-675)Cga>Aga	golgin B1						126	110	115					3																	121438591		2203	4300	6503	SO:0001819	synonymous_variant	2804			Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121438591G>T	X75304	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230	ENSG00000173230	ENSG00000173230				4429	4429	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	"macrogolgin", "golgi integral membrane protein 1"	602500	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"		"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	7691276, 15004235	Standard	Standard	NM_001256486	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	uc010hrc.4	Q14789	Q14789	OTTHUMG00000159411	OTTHUMG00000159411	ENST00000340645.5:c.658C>A	3.37:g.121438591G>T			GOLGB1_ENST00000340645.5_Silent_p.R220R	p.R225R	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	7	783	-			220		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.673C>A	CCDS3004.1																																																																																									0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		-0.407011	-11	-11	48	48	NM_004487		3	7.005743	7.005743	37	0.075	1	0	1	1	1	3	37	0.075	T	121438591	G	T	121438591	2	4	12	1	0	0	0	0	0	0	0	1	6565	1124	39	5		5	GOLGB1	3	121438591	Silent	SNP	G	TCGA-V4-A9EF-01A-21D-A39W-08	68998208	121438591	76583839	3	208											
MRAS	22808	ucsc.edu	37	3	138116204	138116204	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr3:138116204C>T	ENST00000289104.4	+	3	879	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	MRAS_ENST00000423968.2_Missense_Mutation_p.R78W|MRAS_ENST00000474559.1_Missense_Mutation_p.R78W|MRAS_ENST00000464896.1_Missense_Mutation_p.R2W	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	78					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAGCGCCATGCGGGAGCAATA	0.612																																																	0																	85	63	70					3																	138116204		2203	4300	6503	SO:0001583	missense	22808							AF022080	AF022080	CCDS3100.1, CCDS58855.1	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			2014-05-09			ENSG00000158186	ENSG00000158186	ENSG00000158186	ENSG00000158186				7227	7227	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608435	608435						9400994, 10446149	9400994, 10446149	Standard	Standard	NM_012219	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	uc003esi.4	O14807	O14807	OTTHUMG00000159888	OTTHUMG00000159888	ENST00000289104.4:c.232C>T	3.37:g.138116204C>T	ENSP00000289104:p.Arg78Trp																	B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37		CCDS3100.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065591	0.76187	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.25	3.24	0.37175	5.25	3.24	0.37175	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92352	0.5890	10	0.87932	D	0	.	10.4369	0.44441	0.5334:0.4666:0.0:0.0	.	78	O14807	RASM_HUMAN	W	78;78;2;2;78	ENSP00000289104:R78W;ENSP00000389682:R78W;ENSP00000417685:R2W;ENSP00000419582:R2W;ENSP00000418356:R78W	ENSP00000289104:R78W	R	+	1	2	2	MRAS	139598894	139598894	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.287000	0.43505	1.189000	0.43028	-0.314000	0.08810	CGG		0.612	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			-30	-30	24	24			4			26							4	26		T	138116204	C	T	138116204	3	4	12	1	0	0	0	0	1	0	0	0	9755	759	27	1	238	1	MRAS	3	138116204	Missense_Mutation	SNP	C	TCGA-V4-A9EF-01A-21D-A39W-08	16677613	138116204	59906226	4	209											
FAM81B	153643	broad.mit.edu	37	5	94764367	94764367	+	Silent	SNP	G	G	A			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr5:94764367G>A	ENST00000283357.5	+	6	763	c.717G>A	c.(715-717)cgG>cgA	p.R239R		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	239			R -> Q (in dbSNP:rs1541797).			nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAGAGCACCGGCAAATTGAGA	0.413																																						ENST00000283357.5											0			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(715-717)cgG>cgA	family with sequence similarity 81, member B						130	120	123					5																	94764367		1855	4095	5950	SO:0001819	synonymous_variant	153643						g.chr5:94764367G>A			CCDS43341.1	CCDS43341.1	5q15	2008-02-05			2008-02-05			ENSG00000153347	ENSG00000153347	ENSG00000153347	ENSG00000153347				26335	26335	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_152548	NM_152548		Approved	FLJ25333	uc003kla.1	uc003kla.1	Q96LP2	Q96LP2	OTTHUMG00000162837	OTTHUMG00000162837	ENST00000283357.5:c.717G>A	5.37:g.94764367G>A				p.R239R	NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	6	763	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	239			Silent	SNP	ENST00000283357.5	37	c.717G>A	CCDS43341.1																																																																																									0.413	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1		-29.633566	-57	-57	101	101	NM_152548		4	7.219918	7.219918	145	0.026846	0	0	0	1	0	4	145	0.026846	A	94764367	G	A	94764367	2	1	12	1	0	0	0	0	0	0	0	1	5629	1190	42	2		2	FAM81B	5	94764367	Silent	SNP	G	TCGA-V4-A9EF-01A-21D-A39W-08		94764367	86150893	5	210											
ALOX5	240	broad.mit.edu	37	10	45941026	45941026	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr10:45941026G>A	ENST00000374391.2	+	14	1969	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.R582H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	639	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GCCCGATTCCGCAAGAACCTC	0.532																																						ENST00000374391.2											0			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1915-1917)cGc>cAc	arachidonate 5-lipoxygenase						99	94	96					10																	45941026		2203	4300	6503	SO:0001583	missense	240			hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45941026G>A	J03571	J03571	CCDS7212.1, CCDS58078.1	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			2008-03-18			ENSG00000012779	ENSG00000012779	ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	"Arachidonate lipoxygenases"	435	435	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			152390	152390						2565035	2565035	Standard	Standard	NM_001256153	NM_001256153		Approved	5-LOX	uc001jce.4	uc001jce.4	P09917	P09917	OTTHUMG00000018081	OTTHUMG00000018081	ENST00000374391.2:c.1916G>A	10.37:g.45941026G>A	ENSP00000363512:p.Arg639His		RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.R582H	p.R639H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			14	1969	+		Lung SC(717;0.0257)	639	Lipoxygenase.	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1916G>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976004	0.53720	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90444	-2.67;-2.67	5.14	4.24	0.50183	5.14	4.24	0.50183	Lipoxygenase, C-terminal (3);	0.152591	0.64402	N	0.000015	D	0.89543	0.6745	M	0.81179	2.53	0.27278	N	0.958182	P;B;B	0.39862	0.692;0.068;0.043	B;B;B	0.36134	0.218;0.049;0.027	D	0.85291	0.1067	10	0.59425	D	0.04	-26.8399	11.8919	0.52635	0.085:0.0:0.915:0.0	.	582;607;639	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	H	582;639	ENSP00000437634:R582H;ENSP00000363512:R639H	ENSP00000363512:R639H	R	+	2	0	0	ALOX5	45261032	45261032	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	6.597000	0.74118	1.537000	0.49254	0.655000	0.94253	CGC		0.532	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1		-17.088976	-14	-14	75	75			4	7.420229	7.420229	102	0.037736	0	0	0	1	0	4	102	0.037736	A	45941026	G	A	45941026	3	1	12	1	0	0	0	0	1	0	0	0	540	1087	38	1	1970	1	ALOX5	10	45941026	Missense_Mutation	SNP	G	TCGA-V4-A9EF-01A-21D-A39W-08		45941026	89593721	6	211											
MYOF	26509	broad.mit.edu	37	10	95168603	95168603	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr10:95168603C>T	ENST00000359263.4	-	7	669	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	MYOF_ENST00000371502.4_Missense_Mutation_p.V224I|MYOF_ENST00000371501.4_Missense_Mutation_p.V224I|MYOF_ENST00000358334.5_Missense_Mutation_p.V224I|MYOF_ENST00000371489.1_Missense_Mutation_p.V224I	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	224	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for interaction with EHD2.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGCCACAGACGTGAACTTTG	0.502																																						ENST00000371501.4											0			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(670-672)Gtc>Atc	myoferlin						146	135	138					10																	95168603		1961	4148	6109	SO:0001583	missense	26509			blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95168603C>T	AB033033	AB033033	CCDS41550.1, CCDS41551.1	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119	ENSG00000138119	ENSG00000138119				3656	3656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fer-1-like family member 3"	"fer-1-like family member 3"	604603	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	10607832, 10995573, 17702744	Standard	Standard	NM_013451	NM_013451		Approved	KIAA1207	uc001kin.3	uc001kin.3	Q9NZM1	Q9NZM1	OTTHUMG00000018772	OTTHUMG00000018772	ENST00000359263.4:c.670G>A	10.37:g.95168603C>T	ENSP00000352208:p.Val224Ile		MYOF_ENST00000359263.4_Missense_Mutation_p.V224I|MYOF_ENST00000371489.1_Missense_Mutation_p.V224I|MYOF_ENST00000358334.5_Missense_Mutation_p.V224I|MYOF_ENST00000371502.4_Missense_Mutation_p.V224I	p.V224I			Q9NZM1	MYOF_HUMAN			7	792	-			224	C2 2.|Necessary for interaction with EHD2.	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.670G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	c	12.33	1.907087	0.33628	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.55	-5.02	0.02982	5.55	-5.02	0.02982	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.492051	0.22153	N	0.063889	T	0.51041	0.1651	L	0.48218	1.51	0.25893	N	0.983452	B;B;B	0.21309	0.054;0.003;0.008	B;B;B	0.16722	0.012;0.016;0.013	T	0.41610	-0.9499	10	0.12430	T	0.62	-3.4163	14.3022	0.66359	0.0:0.4094:0.0:0.5906	.	206;224;224	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	I	224	ENSP00000351094:V224I;ENSP00000352208:V224I;ENSP00000360556:V224I;ENSP00000360557:V224I;ENSP00000360544:V224I	ENSP00000351094:V224I	V	-	1	0	0	MYOF	95158593	95158593	0.000000	0.05858	0.232000	0.24009	0.930000	0.56654	-0.426000	0.07008	-1.225000	0.02578	0.645000	0.84053	GTC		0.502	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		128.475611	-15	-15	65	65	NM_013451		41	128.478311	128.478311	40	0.506173	0	0	0	1	0	41	40	0.506173	T	95168603	C	T	95168603	3	4	12	1	0	0	0	0	1	0	0	0	10089	536	19	1	5707	1	MYOF	10	95168603	Missense_Mutation	SNP	C	TCGA-V4-A9EF-01A-21D-A39W-08	49227577	95168603	40366144	7	212											
DCPS	28960	broad.mit.edu	37	11	126176602	126176602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr11:126176602delC	ENST00000263579.4	+	2	668	c.339delC	c.(337-339)tacfs	p.Y113fs	RP11-712L6.5_ENST00000524964.1_5'Flank	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	113					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		ATGATATCTACAGCACCTATC	0.542																																						ENST00000263579.4											0			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(337-339)tacfs	decapping enzyme, scavenger						121	98	106					11																	126176602		2201	4298	6499	SO:0001589	frameshift_variant	28960			deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126176602delC	AF077201	AF077201	CCDS8473.1	CCDS8473.1	11q24	2008-02-05			2008-02-05			ENSG00000110063	ENSG00000110063	ENSG00000110063	ENSG00000110063				29812	29812	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610534	610534						12198172, 14523240	12198172, 14523240	Standard	Standard	NM_014026	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	uc001qdp.3	Q96C86	Q96C86	OTTHUMG00000165829	OTTHUMG00000165829	ENST00000263579.4:c.339delC	11.37:g.126176602delC	ENSP00000263579:p.Tyr113fs			p.Y113fs	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	2	668	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	113		Q8NHL8|Q9Y2S5	Frame_Shift_Del	DEL	ENST00000263579.4	37	c.339delC	CCDS8473.1																																																																																									0.542	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	.	.	-9	-9	37	37	NM_014026		18			29	0.38						18	29	0.38	-	126176602	C	-	126176602	7	5	12	1	0	1	0	1	0	0	0	0	4301	489	17	0	345	0	DCPS	11	126176602	Frame_Shift_Del	DEL	C	TCGA-V4-A9EF-01A-21D-A39W-08		126176602	8829914	8	213											
C12orf71	728858	broad.mit.edu	37	12	27234201	27234201	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr12:27234201T>C	ENST00000429849.2	-	2	746	c.716A>G	c.(715-717)aAa>aGa	p.K239R		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	239										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						ATGGGGACTTTTGGTGGCATT	0.527																																						ENST00000429849.2											0			endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(715-717)aAa>aGa	chromosome 12 open reading frame 71						89	87	88					12																	27234201		2071	4223	6294	SO:0001583	missense	728858						g.chr12:27234201T>C			CCDS44851.1	CCDS44851.1	12p11.23	2008-07-25			2008-07-25			ENSG00000214700	ENSG00000214700	ENSG00000214700	ENSG00000214700				34452	34452	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001080406	NM_001080406		Approved	LOC728858	uc001rhq.3	uc001rhq.3	A8MTZ7	A8MTZ7	OTTHUMG00000169274	OTTHUMG00000169274	ENST00000429849.2:c.716A>G	12.37:g.27234201T>C	ENSP00000413728:p.Lys239Arg			p.K239R	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			2	746	-			239			Missense_Mutation	SNP	ENST00000429849.2	37	c.716A>G	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	T	8.050	0.765710	0.15983	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.47528	0.84	2.66	-1.61	0.08399	2.66	-1.61	0.08399	.	1.809800	0.03977	U	0.292675	T	0.26846	0.0657	N	0.19112	0.55	0.09310	N	1	B	0.32010	0.351	B	0.29077	0.098	T	0.06752	-1.0809	10	0.20519	T	0.43	1.586	2.3828	0.04358	0.4304:0.1419:0.0:0.4277	.	239	A8MTZ7	CL071_HUMAN	R	271;239	ENSP00000413728:K239R	ENSP00000381796:K271R	K	-	2	0	0	C12orf71	27125468	27125468	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.318000	0.08050	-0.333000	0.08476	0.334000	0.21626	AAA		0.527	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1		90.163605	-9	-9	52	52	NM_001080406		29	90.612309	90.612309	41	0.414286	0	0	0	1	0	29	41	0.414286	C	27234201	T	C	27234201	3	2	12	1	0	0	0	0	1	0	0	0	1712	1841	64	4	97	4	C12orf71	12	27234201	Missense_Mutation	SNP	T	TCGA-V4-A9EF-01A-21D-A39W-08		27234201	106617694	9	214											
C12orf50	160419	broad.mit.edu	37	12	88391867	88391867	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr12:88391867A>T	ENST00000298699.2	-	4	414	c.234T>A	c.(232-234)caT>caA	p.H78Q	C12orf50_ENST00000550553.1_Missense_Mutation_p.H78Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	78										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAACTAAAGGATGGTGGATGG	0.358																																						ENST00000298699.2											0			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(232-234)caT>caA	chromosome 12 open reading frame 50						121	120	120					12																	88391867		2203	4300	6503	SO:0001583	missense	160419						g.chr12:88391867A>T	AK093140	AK093140	CCDS9031.1	CCDS9031.1	12q21.32	2006-02-03			2006-02-03				ENSG00000165805		ENSG00000165805				26665	26665	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_152589	NM_152589		Approved	FLJ35821	uc001tam.1	uc001tam.1	Q8NA57	Q8NA57	OTTHUMG00000169869	OTTHUMG00000169869	ENST00000298699.2:c.234T>A	12.37:g.88391867A>T	ENSP00000298699:p.His78Gln		C12orf50_ENST00000550553.1_Missense_Mutation_p.H78Q	p.H78Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN			4	414	-			78		Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.234T>A	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577693	0.45902	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944;ENST00000551163	T;T	0.30448	1.53;1.54	5.72	2.0	0.26442	5.72	2.0	0.26442	.	0.173757	0.40908	N	0.000982	T	0.13670	0.0331	N	0.08118	0	0.26227	N	0.979067	B;P	0.35272	0.302;0.493	B;B	0.38616	0.202;0.277	T	0.09885	-1.0654	10	0.49607	T	0.09	.	1.3176	0.02110	0.5426:0.1508:0.1613:0.1452	.	132;78	G3V208;Q8NA57	.;CL050_HUMAN	Q	78;78;132;78	ENSP00000298699:H78Q;ENSP00000448344:H78Q	ENSP00000298699:H78Q	H	-	3	2	2	C12orf50	86915998	86915998	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	1.013000	0.29937	0.096000	0.17463	0.482000	0.46254	CAT		0.358	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1		35.362588	-6	-6	45	45	NM_152589		13	36.084264	36.084264	24	0.351351	0	0	0	1	0	13	24	0.351351	T	88391867	A	T	88391867	3	4	12	1	0	0	0	0	1	0	0	0	1695	330	12	5	1050	5	C12orf50	12	88391867	Missense_Mutation	SNP	A	TCGA-V4-A9EF-01A-21D-A39W-08	61157666	88391867	45460028	10	215											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		80.349494	-26	-26	55	55	NM_002067		26	80.349494	80.349494	26	0.5	0	0	0	1	0	26	26	0.5	T	3118942	A	T	3118942	3	4	12	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EF-01A-21D-A39W-08		3118942	56010041	11	216											
USP25	29761	broad.mit.edu	37	21	17203904	17203904	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	g.chr21:17203904A>G	ENST00000285679.6	+	16	2318	c.1949A>G	c.(1948-1950)tAc>tGc	p.Y650C	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.Y650C|USP25_ENST00000285681.2_Missense_Mutation_p.Y650C	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	650	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCCAGTGCATACTGTTTAATG	0.363																																						ENST00000285681.2											0			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1948-1950)tAc>tGc	ubiquitin specific peptidase 25						123	117	119					21																	17203904		2203	4300	6503	SO:0001583	missense	29761			protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17203904A>G	AF170562	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313	ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	"Ubiquitin-specific peptidases"	12624	12624	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604736	604736	"ubiquitin specific protease 25"		"ubiquitin specific protease 25"			12838346, 10612803	12838346, 10612803	Standard	Standard	NM_013396	NM_013396		Approved	USP21	uc002yjy.1	uc002yjy.1	Q9UHP3	Q9UHP3	OTTHUMG00000074343	OTTHUMG00000074343	ENST00000285679.6:c.1949A>G	21.37:g.17203904A>G	ENSP00000285679:p.Tyr650Cys		USP25_ENST00000285679.6_Missense_Mutation_p.Y650C|USP25_ENST00000400183.2_Missense_Mutation_p.Y650C|USP25_ENST00000351097.5_Intron	p.Y650C	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	16	2318	+			650		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1949A>G	CCDS33515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.6|21.6	4.172617|4.172617	0.78452|0.78452	.|.	.|.	ENSG00000155313|ENSG00000155313	ENST00000453553|ENST00000285681;ENST00000285679;ENST00000400183	.|D;D;D	.|0.87650	.|-2.28;-2.28;-2.28	5.11|5.11	5.11|5.11	0.69529|0.69529	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94902|0.94902	0.8352|0.8352	M|M	0.93062|0.93062	3.375|3.375	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;0.998	D|D	0.96052|0.96052	0.9032|0.9032	5|10	.|0.87932	.|D	.|0	.|.	15.6093|15.6093	0.76704|0.76704	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|650;650;650	.|Q9UHP3-3;Q9UHP3-1;Q9UHP3	.|.;.;UBP25_HUMAN	A|C	179|650	.|ENSP00000285681:Y650C;ENSP00000285679:Y650C;ENSP00000383044:Y650C	.|ENSP00000285679:Y650C	T|Y	+|+	1|2	0|0	0|0	USP25|USP25	16125775|16125775	16125775|16125775	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	8.848000|8.848000	0.92172|0.92172	2.226000|2.226000	0.72624|0.72624	0.482000|0.482000	0.46254|0.46254	ACT|TAC		0.363	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		-8.332284	-2	-2	39	39			3	6.794042	6.794042	65	0.044118	0	0	0	1	0	3	65	0.044118	G	17203904	A	G	17203904	3	3	12	1	0	0	0	0	1	0	0	0	17053	391	14	4	2011	4	USP25	21	17203904	Missense_Mutation	SNP	A	TCGA-V4-A9EF-01A-21D-A39W-08		17203904	30925991	12	217											
TRIM62	55223	broad.mit.edu	37	1	33612880	33612880	+	Silent	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:33612880G>A	ENST00000291416.5	-	5	1559	c.1326C>T	c.(1324-1326)cgC>cgT	p.R442R	TRIM62_ENST00000543586.1_Silent_p.R321R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	442	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGAACTTCTCGCGGAAGGTGT	0.557																																						ENST00000291416.5											0			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1324-1326)cgC>cgT	tripartite motif containing 62						108	95	99					1																	33612880		2203	4300	6503	SO:0001819	synonymous_variant	55223				intracellular	zinc ion binding	g.chr1:33612880G>A	BC007999	BC007999	CCDS376.1	CCDS376.1	1p35.1	2013-10-11	2011-01-25		2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525	ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	25574	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"	"ductal epithelium-associated RING Chromosome 1"			"tripartite motif-containing 62"		"tripartite motif-containing 62"			19536326	19536326	Standard	Standard	NM_018207	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	uc001bxb.3	Q9BVG3	Q9BVG3	OTTHUMG00000004132	OTTHUMG00000004132	ENST00000291416.5:c.1326C>T	1.37:g.33612880G>A			TRIM62_ENST00000543586.1_Silent_p.R321R	p.R442R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1559	-		Myeloproliferative disorder(586;0.0393)	442	B30.2/SPRY.	B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.1326C>T	CCDS376.1																																																																																									0.557	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1		59.187085	-2	-2	60	60	NM_018207		20	59.478982	59.478982	28	0.416667	0	0	0	1	0	20	28	0.416667	A	33612880	G	A	33612880	2	1	13	1	0	0	0	0	0	0	0	1	16534	1074	38	1		1	TRIM62	1	33612880	Silent	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		33612880	215637741	1	218											
NLRP3	114548	broad.mit.edu	37	1	247582115	247582115	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:247582115C>T	ENST00000336119.3	+	1	765	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	NLRP3_ENST00000348069.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R7C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R7C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366497.2_Missense_Mutation_p.R7C	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	7	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGCAAGCACCCGCTGCAAGCT	0.527																																						ENST00000366497.2											0			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(19-21)Cgc>Tgc	NLR family, pyrin domain containing 3						43	45	44					1																	247582115		2203	4300	6503	SO:0001583	missense	114548			detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582115C>T	AF054176	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	"Nucleotide-binding domain and leucine rich repeat containing"	16400	16400	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	10741953	Standard	Standard	NM_183395	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	uc001icr.3	Q96P20	Q96P20	OTTHUMG00000040647	OTTHUMG00000040647	ENST00000336119.3:c.19C>T	1.37:g.247582115C>T	ENSP00000337383:p.Arg7Cys		NLRP3_ENST00000348069.2_Missense_Mutation_p.R7C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R7C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R7C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R7C	p.R7C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		2	799	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	7	DAPIN.	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.19C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669103	0.67814	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.49	4.49	0.54785	4.49	4.49	0.54785	Pyrin (2);DEATH-like (2);	0.150326	0.30565	N	0.009356	T	0.65154	0.2664	M	0.68317	2.08	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.973;0.982;0.973;1.0	T	0.67643	-0.5618	10	0.66056	D	0.02	.	12.8787	0.58003	0.0:1.0:0.0:0.0	.	7;7;7;7;7	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	C	7	ENSP00000375704:R7C;ENSP00000355453:R7C;ENSP00000337383:R7C;ENSP00000294752:R7C;ENSP00000355452:R7C;ENSP00000375703:R7C	ENSP00000337383:R7C	R	+	1	0	0	NLRP3	245648738	245648738	0.910000	0.30920	0.951000	0.38953	0.743000	0.42351	1.560000	0.36331	2.498000	0.84270	0.561000	0.74099	CGC		0.527	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1		21.387716	-7	-7	37	37	NM_004895		8	23.030468	23.030468	23	0.258065	0	0	0	1	0	8	23	0.258065	T	247582115	C	T	247582115	3	4	13	1	0	0	0	0	1	0	0	0	10478	652	23	1	21	1	NLRP3	1	247582115	Missense_Mutation	SNP	C	TCGA-V4-A9EH-01A-11D-A39W-08	213969235	247582115	1668506	2	219											
FANCD2	2177	broad.mit.edu	37	3	10140562	10140562	+	Intron	SNP	T	T	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr3:10140562T>C	ENST00000419585.1	+	43	4442				FANCD2_ENST00000383807.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000287647.3_Silent_p.S1448S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTGTTCTAAGTTGGTGGAGCA	0.423			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	0			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(4342-4344)agT>agC	Fanconi anemia, complementation group D2						186	169	175					3																	10140562		2203	4300	6503	SO:0001627	intron_variant	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10140562T>C	AF340183	AF340183	CCDS2595.1, CCDS33696.1	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	"Fanconi anemia, complementation groups"	3585	3585	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613984	613984		FACD, FANCD		FACD, FANCD		7581463, 11239453, 18475298	7581463, 11239453, 18475298	Standard	Standard	XM_005264946	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	uc003buw.3	Q9BXW9	Q9BXW9	OTTHUMG00000128670	OTTHUMG00000128670	ENST00000419585.1:c.4281+63T>C	3.37:g.10140562T>C			FANCD2_ENST00000383807.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000419585.1_Intron|FANCD2OS_ENST00000524279.1_Intron	p.S1448S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	43	4437	+			1448		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.4344T>C	CCDS33696.1																																																																																									0.423	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		91.392936	-18	-18	100	100			28	91.722533	91.722533	38	0.424242	0	0	0	1	0	28	38	0.424242	C	10140562	T	C	10140562	1	2	13	0	1	0	0	0	0	0	0	0	5665	1722	60	4		4	FANCD2	3	10140562	Intron	SNP	T	TCGA-V4-A9EH-01A-11D-A39W-08		10140562	187881868	3	220											
CSMD3	114788	broad.mit.edu	37	8	114448977	114448977	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr8:114448977T>A	ENST00000297405.5	-	1	351	c.107A>T	c.(106-108)aAg>aTg	p.K36M	CSMD3_ENST00000352409.3_Missense_Mutation_p.K36M|CSMD3_ENST00000455883.2_Missense_Mutation_p.K36M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCATTTTCTTCATCAGGAT	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5											0			breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(106-108)aAg>aTg	CUB and Sushi multiple domains 3						160	163	162					8																	114448977		2203	4300	6503	SO:0001583	missense	114788				integral to membrane|plasma membrane		g.chr8:114448977T>A	AY210419	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			2007-01-06			ENSG00000164796	ENSG00000164796	ENSG00000164796	ENSG00000164796				19291	19291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608399	608399								Standard	Standard	NM_052900	NM_052900		Approved		uc003ynu.3	uc003ynu.3	Q7Z407	Q7Z407	OTTHUMG00000157027	OTTHUMG00000157027	ENST00000297405.5:c.107A>T	8.37:g.114448977T>A	ENSP00000297405:p.Lys36Met		CSMD3_ENST00000455883.2_Missense_Mutation_p.K36M|CSMD3_ENST00000352409.3_Missense_Mutation_p.K36M	p.K36M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			1	351	-			36		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.107A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566535	0.28003	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26223	2.09;1.75;2.09	5.82	4.63	0.57726	5.82	4.63	0.57726	.	0.367343	0.19539	N	0.111858	T	0.24122	0.0584	N	0.08118	0	0.27776	N	0.943335	P;D;D;P	0.69078	0.891;0.995;0.997;0.826	P;P;P;P	0.60415	0.73;0.847;0.874;0.541	T	0.05767	-1.0865	10	0.46703	T	0.11	.	8.5911	0.33688	0.0:0.1493:0.0:0.8507	.	36;36;36;36	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	M	36	ENSP00000297405:K36M;ENSP00000412263:K36M;ENSP00000343124:K36M	ENSP00000297405:K36M	K	-	2	0	0	CSMD3	114518153	114518153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.958000	0.40402	0.983000	0.38602	0.533000	0.62120	AAG		0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		-16.159774	-7	-7	129	129	NM_052900		6	11.854962	11.854962	122	0.046875	0	0	0	1	0	6	122	0.046875	A	114448977	T	A	114448977	3	1	13	1	0	0	0	0	1	0	0	0	3946	1609	56	5	11362	5	CSMD3	8	114448977	Missense_Mutation	SNP	T	TCGA-V4-A9EH-01A-11D-A39W-08		114448977	31915045	4	221											
WISP1	8840	broad.mit.edu	37	8	134239886	134239886	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr8:134239886G>A	ENST00000250160.6	+	5	1143	c.1037G>A	c.(1036-1038)tGt>tAt	p.C346Y	WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000377863.2_Missense_Mutation_p.C174Y|WISP1_ENST00000519433.1_Missense_Mutation_p.C101Y|WISP1-UT1_ENST00000602893.1_RNA|WISP1_ENST00000220856.6_Missense_Mutation_p.C259Y	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	346	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AACCTGAGCTGTAGGAATCCC	0.493																																						ENST00000250160.6											0			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(1036-1038)tGt>tAt	WNT1 inducible signaling pathway protein 1						156	124	135					8																	134239886		2203	4300	6503	SO:0001583	missense	8840			cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134239886G>A	AF100779	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			2007-05-14			ENSG00000104415	ENSG00000104415	ENSG00000104415	ENSG00000104415				12769	12769	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603398	603398						9843955	9843955	Standard	Standard	NM_003882	NM_003882		Approved	CCN4	uc003yub.3	uc003yub.3	O95388	O95388	OTTHUMG00000164440	OTTHUMG00000164440	ENST00000250160.6:c.1037G>A	8.37:g.134239886G>A	ENSP00000250160:p.Cys346Tyr		WISP1_ENST00000377863.2_Missense_Mutation_p.C174Y|WISP1_ENST00000519433.1_Missense_Mutation_p.C101Y|WISP1_ENST00000220856.6_Missense_Mutation_p.C259Y|WISP1_ENST00000517423.1_3'UTR	p.C346Y	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		5	1143	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		346	CTCK.	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.1037G>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730316	0.89390	.	.	ENSG00000104415	ENST00000250160;ENST00000519433;ENST00000377863;ENST00000220856	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	5.93	5.93	0.95920	5.93	5.93	0.95920	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.89534	3.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.99505	1.0954	10	0.87932	D	0	-26.2814	19.3291	0.94278	0.0:0.0:1.0:0.0	.	101;174;259;346	O95388-3;Q5JBS7;O95388-2;O95388	.;.;.;WISP1_HUMAN	Y	346;101;174;259	ENSP00000250160:C346Y;ENSP00000429185:C101Y;ENSP00000367094:C174Y;ENSP00000220856:C259Y	ENSP00000220856:C259Y	C	+	2	0	0	WISP1	134309068	134309068	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.773000	0.98989	2.814000	0.96858	0.655000	0.94253	TGT		0.493	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2		54.474395	-24	-24	57	57	NM_003882		20	56.478725	56.478725	44	0.3125	0	0	0	1	0	20	44	0.3125	A	134239886	G	A	134239886	3	1	13	1	0	0	0	0	1	0	0	0	17369	1377	48	3	1055	3	WISP1	8	134239886	Missense_Mutation	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08	19790909	134239886	12124136	5	222											
ZMYND17	118490	broad.mit.edu	37	10	75186442	75186442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr10:75186442C>T	ENST00000372912.1	-	3	427	c.425G>A	c.(424-426)tGg>tAg	p.W142*	MSS51_ENST00000299432.2_Nonsense_Mutation_p.W142*|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	142					social behavior (GO:0035176)		metal ion binding (GO:0046872)										GTGTGCGGGCCAGTCTGACTT	0.478																																						ENST00000299432.2											0										c.(424-426)tGg>tAg	MSS51 mitochondrial translational activator						160	143	149					10																	75186442		2203	4300	6503	SO:0001587	stop_gained	118490					zinc ion binding	g.chr10:75186442C>T	AK096884	AK096884	CCDS31221.1	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343	ENSG00000166343	ENSG00000166343		"Zinc fingers, MYND-type"	"Zinc fingers, MYND-type"	21000	21000	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614773	614773	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17		19710419	19710419	Standard	Standard	NM_001024593	NM_001024593		Approved	FLJ39565	uc001jud.3	uc001jud.3	Q4VC12	Q4VC12	OTTHUMG00000018464	OTTHUMG00000018464	ENST00000372912.1:c.425G>A	10.37:g.75186442C>T	ENSP00000362003:p.Trp142*		MSS51_ENST00000372912.1_Nonsense_Mutation_p.W142*	p.W142*	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN			4	490	-			142		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Nonsense_Mutation	SNP	ENST00000372912.1	37	c.425G>A	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809603	0.90707	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	.	.	.	5.72	4.82	0.62117	5.72	4.82	0.62117	.	0.125208	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2455	12.5431	0.56184	0.0:0.9195:0.0:0.0805	.	.	.	.	X	142	.	ENSP00000299432:W142X	W	-	2	0	0	ZMYND17	74856448	74856448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.568000	0.67385	1.427000	0.47276	0.650000	0.86243	TGG		0.478	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3		118.536490	-37	-37	95	95	NM_178451		38	118.950458	118.950458	51	0.426966	0	0	0	1	0	38	51	0.426966	T	75186442	C	T	75186442	4	4	13	1	0	0	0	0	0	1	0	0	17706	595	21	3	973	3	ZMYND17	10	75186442	Nonsense_Mutation	SNP	C	TCGA-V4-A9EH-01A-11D-A39W-08		75186442	60348305	6	223											
PKP3	11187	ucsc.edu	37	11	396622	396622	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr11:396622C>A	ENST00000331563.2	+	2	323	c.247C>A	c.(247-249)Cag>Aag	p.Q83K	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	83					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCCAGGGGGCAGTACCACAC	0.647																																																	0																	68	49	55					11																	396622		2200	4296	6496	SO:0001583	missense	11187							Z98265	Z98265	CCDS7695.1	CCDS7695.1	11p15	2013-02-14			2013-02-14			ENSG00000184363	ENSG00000184363	ENSG00000184363	ENSG00000184363		"Armadillo repeat containing"	"Armadillo repeat containing"	9025	9025	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605561	605561						10374265	10374265	Standard	Standard	XM_005252760	XM_005252760		Approved		uc001lpc.3	uc001lpc.3	Q9Y446	Q9Y446	OTTHUMG00000119068	OTTHUMG00000119068	ENST00000331563.2:c.247C>A	11.37:g.396622C>A	ENSP00000331678:p.Gln83Lys																	F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37		CCDS7695.1	.	.	.	.	.	.	.	.	.	.	c	13.62	2.291589	0.40494	.	.	ENSG00000184363	ENST00000331563;ENST00000531857	T	0.78707	-1.2	3.5	3.5	0.40072	3.5	3.5	0.40072	.	.	.	.	.	T	0.59636	0.2208	N	0.22421	0.69	0.32377	N	0.555099	B	0.09022	0.002	B	0.08055	0.003	T	0.54146	-0.8337	9	0.05833	T	0.94	-17.2863	10.7288	0.46085	0.0:1.0:0.0:0.0	.	83	Q9Y446	PKP3_HUMAN	K	83;25	ENSP00000331678:Q83K	ENSP00000331678:Q83K	Q	+	1	0	0	PKP3	386622	386622	0.269000	0.24143	0.875000	0.34327	0.455000	0.32408	2.972000	0.49256	1.999000	0.58509	0.306000	0.20318	CAG		0.647	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1			0	0	36	36	NM_007183		4			15							4	15		A	396622	C	A	396622	3	1	13	1	0	0	0	0	1	0	0	0	11986	711	25	5	253	5	PKP3	11	396622	Missense_Mutation	SNP	C	TCGA-V4-A9EH-01A-11D-A39W-08		396622	134609894	7	224											
PHRF1	57661	broad.mit.edu	37	11	609063	609063	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr11:609063C>T	ENST00000264555.5	+	14	3735	c.3607C>T	c.(3607-3609)Cca>Tca	p.P1203S	PHRF1_ENST00000533464.1_Missense_Mutation_p.P1199S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P1202S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P1201S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1203					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGAGGCTTCCCCAGCGCCCCT	0.701																																						ENST00000264555.5											0			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(3607-3609)Cca>Tca	PHD and ring finger domains 1						8	10	10					11																	609063		1978	4115	6093	SO:0001583	missense	57661					RNA polymerase binding|zinc ion binding	g.chr11:609063C>T	BC004950	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			2014-06-13			ENSG00000070047	ENSG00000070047	ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	24351	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780	611780		RNF221		RNF221				Standard	Standard	XM_005253027	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	uc010qwc.2	Q9P1Y6	Q9P1Y6	OTTHUMG00000165141	OTTHUMG00000165141	ENST00000264555.5:c.3607C>T	11.37:g.609063C>T	ENSP00000264555:p.Pro1203Ser		PHRF1_ENST00000413872.2_Missense_Mutation_p.P1201S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P1199S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P1202S	p.P1203S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	3735	+			1203		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3607C>T		.	.	.	.	.	.	.	.	.	.	C	15.80	2.940513	0.52972	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.81078	-1.44;-1.44;-1.45;-1.45	4.42	2.42	0.29668	4.42	2.42	0.29668	.	0.585786	0.14227	N	0.332962	T	0.77870	0.4195	L	0.29908	0.895	0.09310	N	1	D;B;B;B	0.58268	0.982;0.123;0.123;0.075	P;B;B;B	0.54664	0.758;0.039;0.039;0.017	T	0.66476	-0.5914	10	0.52906	T	0.07	-7.2646	8.9007	0.35493	0.169:0.668:0.163:0.0	.	1199;1201;1202;1203	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	1203;1201;1202;1199	ENSP00000264555:P1203S;ENSP00000388589:P1201S;ENSP00000410626:P1202S;ENSP00000431870:P1199S	ENSP00000264555:P1203S	P	+	1	0	0	PHRF1	599063	599063	0.057000	0.20700	0.011000	0.14972	0.050000	0.14768	1.411000	0.34702	0.423000	0.26033	0.462000	0.41574	CCA		0.701	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1		6.650023	8	8	26	26	NM_020901		2	6.650023	6.650023	2	0.5	0	0	0	1	0	2	2	0.5	T	609063	C	T	609063	3	4	13	1	0	0	0	0	1	0	0	0	11861	623	22	3	3654	3	PHRF1	11	609063	Missense_Mutation	SNP	C	TCGA-V4-A9EH-01A-11D-A39W-08	212441	609063	134397453	8	225											
ALDH2	217	broad.mit.edu	37	12	112230450	112230450	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr12:112230450G>C	ENST00000261733.2	+	9	1008	c.947G>C	c.(946-948)gGc>gCc	p.G316A	ALDH2_ENST00000416293.3_Missense_Mutation_p.G269A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	316					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	TTCAACCAGGGCCAGTGCTGC	0.632			T	HMGA2	leiomyoma																																	ENST00000261733.2		Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(946-948)gGc>gCc	aldehyde dehydrogenase 2 family (mitochondrial)						30	28	29					12																	112230450		2203	4300	6503	SO:0001583	missense	217			carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112230450G>C	M26760	M26760	CCDS9155.1, CCDS55885.1	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14			2007-12-14				ENSG00000111275		ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	"Aldehyde dehydrogenases"	404	404	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			100650	100650						4015823, 2987944	4015823, 2987944	Standard	Standard	NM_000690	NM_000690		Approved		uc001tst.3	uc001tst.3	P05091	P05091	OTTHUMG00000169603	OTTHUMG00000169603	ENST00000261733.2:c.947G>C	12.37:g.112230450G>C	ENSP00000261733:p.Gly316Ala		ALDH2_ENST00000416293.3_Missense_Mutation_p.G269A	p.G316A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			9	1008	+			316		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.947G>C	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025251	0.75390	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.65549	-0.16;-0.16	5.75	4.86	0.63082	5.75	4.86	0.63082	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.043918	0.85682	N	0.000000	D	0.88607	0.6482	H	0.99619	4.66	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.977;1.0	D	0.93524	0.6864	10	0.87932	D	0	.	14.979	0.71299	0.0684:0.0:0.9316:0.0	.	269;240;316	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	A	269;316;240;176	ENSP00000403349:G269A;ENSP00000261733:G316A	ENSP00000261733:G316A	G	+	2	0	0	ALDH2	110714833	110714833	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	9.363000	0.97131	1.435000	0.47434	0.655000	0.94253	GGC		0.632	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1		18.947008	1	1	18	18	NM_000690		6	19.078214	19.078214	9	0.4	0	0	0	1	0	6	9	0.4	C	112230450	G	C	112230450	3	2	13	1	0	0	0	0	1	0	0	0	496	1203	42	5	981	5	ALDH2	12	112230450	Missense_Mutation	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		112230450	21621445	9	226											
SYNE2	23224	broad.mit.edu	37	14	64686021	64686022	+	Frame_Shift_Ins	INS	-	-	C	rs148199074		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr14:64686021_64686022insC	ENST00000344113.4	+	109	19896_19897	c.19684_19685insC	c.(19684-19686)gccfs	p.A6562fs	SYNE2_ENST00000394768.2_Frame_Shift_Ins_p.A2947fs|SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.A6478fs|SYNE2_ENST00000555002.1_Frame_Shift_Ins_p.A3219fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.A6585fs|SYNE2_ENST00000357395.3_Frame_Shift_Ins_p.A2947fs|SYNE2_ENST00000554805.1_Frame_Shift_Ins_p.A345fs|SYNE2_ENST00000555022.1_Frame_Shift_Ins_p.A440fs|SYNE2_ENST00000441438.2_Frame_Shift_Ins_p.A93fs|SYNE2_ENST00000458046.2_Frame_Shift_Ins_p.A219fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6562					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.A6585S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGATATCAGCGCCATCACTACT	0.426																																						ENST00000357395.3											1	Substitution - Missense(1)	lung(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8839-8841)gccfs	spectrin repeat containing, nuclear envelope 2																																			SO:0001589	frameshift_variant	23224			centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64686021_64686022insC	AB023228	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			2014-09-17			ENSG00000054654	ENSG00000054654	ENSG00000054654	ENSG00000054654				17084	17084	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442	608442						10231032, 10878022	10231032, 10878022	Standard	Standard	NM_182910	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	uc001xgl.3	Q8WXH0	Q8WXH0	OTTHUMG00000140349	OTTHUMG00000140349	ENST00000344113.4:c.19686dupC	14.37:g.64686023_64686023dupC	ENSP00000341781:p.Ala6562fs		SYNE2_ENST00000554805.1_Frame_Shift_Ins_p.A345fs|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.A6585fs|SYNE2_ENST00000441438.2_Frame_Shift_Ins_p.A93fs|SYNE2_ENST00000458046.2_Frame_Shift_Ins_p.A219fs|SYNE2_ENST00000555022.1_Frame_Shift_Ins_p.A440fs|SYNE2_ENST00000344113.4_Frame_Shift_Ins_p.A6562fs|SYNE2_ENST00000394768.2_Frame_Shift_Ins_p.A2947fs|SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.A6478fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Frame_Shift_Ins_p.A3219fs	p.A2947fs			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	110	19983_19984	+			6562		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Ins	INS	ENST00000344113.4	37	c.8839_8840insC	CCDS41963.1																																																																																									0.426	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	.	.	10	10	71	71	NM_182914		21			30	0.41						21	30	0.41	C	64686022	-	C	64686021	7	5	13	1	0	1	1	0	0	0	0	0	15443	1087	38	0	20187	0	SYNE2	14	64686021	Frame_Shift_Ins	INS	-	TCGA-V4-A9EH-01A-11D-A39W-08		64686021	42663519	10	227											
SNX20	124460	broad.mit.edu	37	16	50707379	50707379	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr16:50707379G>A	ENST00000330943.4	-	4	1060	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	297					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GTGGGCCTCCGGAGCTGGCTC	0.662																																						ENST00000330943.4											0			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(889-891)Cgg>Tgg	sorting nexin 20						38	42	41					16																	50707379		2192	4297	6489	SO:0001583	missense	124460			cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707379G>A	AK055837	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208	ENSG00000167208	ENSG00000167208		"Sorting nexins"	"Sorting nexins"	30390	30390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	"selectin ligand interactor cytoplasmic 1"	613281	613281						18196517, 16782399	18196517, 16782399	Standard	Standard	NM_182854	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	uc002egk.2	Q7Z614	Q7Z614	OTTHUMG00000133173	OTTHUMG00000133173	ENST00000330943.4:c.889C>T	16.37:g.50707379G>A	ENSP00000332062:p.Arg297Trp		SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	p.R297W	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	1060	-			297		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.889C>T	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134001	0.77662	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	T	0.33216	1.42	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.593626	0.16759	N	0.200718	T	0.46425	0.1392	L	0.60455	1.87	0.29623	N	0.846035	D	0.76494	0.999	P	0.57720	0.826	T	0.47156	-0.9139	10	0.66056	D	0.02	-34.8905	12.575	0.56359	0.0:0.0:0.7916:0.2083	.	297	Q7Z614	SNX20_HUMAN	W	297;133	ENSP00000332062:R297W	ENSP00000332062:R297W	R	-	1	2	2	SNX20	49264880	49264880	0.055000	0.20627	0.717000	0.30585	0.897000	0.52465	2.229000	0.42990	2.676000	0.91093	0.561000	0.74099	CGG		0.662	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2		81.444387	-26	-26	67	67	NM_153337		26	81.579307	81.579307	32	0.448276	0	0	0	1	0	26	32	0.448276	A	50707379	G	A	50707379	3	1	13	1	0	0	0	0	1	0	0	0	14892	1115	39	1	208	1	SNX20	16	50707379	Missense_Mutation	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		50707379	39647374	11	228											
DNAH17	8632	broad.mit.edu	37	17	76570918	76570918	+	Silent	SNP	G	G	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr17:76570918G>T	ENST00000585328.1	-	2	346	c.222C>A	c.(220-222)tcC>tcA	p.S74S	DNAH17_ENST00000389840.5_Silent_p.S74S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	74	Stem. {ECO:0000250}.				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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAACCCCTTTGGACTTGAGGG	0.567																																						ENST00000389840.5											0			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(220-222)tcC>tcA	dynein, axonemal, heavy chain 17						122	130	127					17																	76570918		2026	4180	6206	SO:0001819	synonymous_variant	8632						g.chr17:76570918G>T	AJ000522	AJ000522			17q25.3	2012-04-19	2006-09-04		2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	"Axonemal dyneins"	2946	2946	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610063	610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	9545504	Standard	Standard	NM_173628	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	uc010dhp.2	Q9UFH2	Q9UFH2			ENST00000585328.1:c.222C>A	17.37:g.76570918G>T			DNAH17_ENST00000585328.1_Silent_p.S74S	p.S74S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	346	-					O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.222C>A																																																																																										0.567	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		-2.615396	-23	-23	58	58	NM_173628		3	6.959699	6.959699	45	0.0625	1	0	0.115264	1	0.115264	3	45	0.0625	T	76570918	G	T	76570918	2	4	13	1	0	0	0	0	0	0	0	1	4601	1335	47	5		5	DNAH17	17	76570918	Silent	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		76570918	4624292	12	229											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		71.353393	-21	-21	60	60	NM_002067		22	71.440422	71.440422	18	0.55	0	0	0	1	0	22	18	0.55	T	3118942	A	T	3118942	3	4	13	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EH-01A-11D-A39W-08		3118942	56010041	13	230											
PPP5C	5536	broad.mit.edu	37	19	46893539	46893539	+	Splice_Site	DEL	A	A	-			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr19:46893539delA	ENST00000012443.4	+	13	1540		c.e13-1		PPP5C_ENST00000391919.1_Splice_Site|AC007193.8_ENST00000598616.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit						cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CTGGTCCCACAGCCTCATCCC	0.642																																						ENST00000012443.4											0			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.e13-1	protein phosphatase 5, catalytic subunit						87	63	71					19																	46893539		2202	4297	6499	SO:0001630	splice_region_variant	5536			mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46893539delA			CCDS12684.1	CCDS12684.1	19q13.3	2013-01-10			2013-01-10			ENSG00000011485	ENSG00000011485	ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	9322	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600658	600658		PPP5		PPP5		8666404	8666404	Standard	Standard	NM_006247	NM_006247		Approved	PP5	uc002pem.3	uc002pem.3	P53041	P53041	OTTHUMG00000134287	OTTHUMG00000134287	ENST00000012443.4:c.1438-1A>-	19.37:g.46893539delA			PPP5C_ENST00000391919.1_Splice_Site		NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	13	1540	+		Ovarian(192;0.0731)|all_neural(266;0.196)			Q16722|Q53XV2	Splice_Site	DEL	ENST00000012443.4	37		CCDS12684.1																																																																																									0.642	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	.	.	3	3	5	5	NM_006247	Intron	2			4	0.33						2	4	0.33	-	46893539	A	-	46893539	8	5	13	1	0	1	0	1	0	0	1	0	12406	202	7	0	1486	0	PPP5C	19	46893539	Splice_Site	DEL	A	TCGA-V4-A9EH-01A-11D-A39W-08	43774597	46893539	12235444	14	231											
RYR2	6262	broad.mit.edu	37	1	237947564	237947564	+	Silent	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr1:237947564G>A	ENST00000366574.2	+	90	12869	c.12552G>A	c.(12550-12552)gaG>gaA	p.E4184E	RYR2_ENST00000360064.6_Silent_p.E4190E|RYR2_ENST00000542537.1_Silent_p.E4168E|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4184					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGAGAAAGAGAAGATGGAAC	0.507																																						ENST00000366574.2											0			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12550-12552)gaG>gaA	ryanodine receptor 2 (cardiac)						86	90	89					1																	237947564		1986	4185	6171	SO:0001819	synonymous_variant	6262			cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947564G>A	X91869	X91869	CCDS55691.1	CCDS55691.1	1q43	2014-09-17			2014-09-17			ENSG00000198626	ENSG00000198626	ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	10484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180902	180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	2380170, 8406504, 11159936	Standard	Standard	NM_001035	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	uc001hyl.1	Q92736	Q92736	OTTHUMG00000039543	OTTHUMG00000039543	ENST00000366574.2:c.12552G>A	1.37:g.237947564G>A			RYR2_ENST00000542537.1_Silent_p.E4168E|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.E4190E	p.E4184E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12869	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4184		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12552G>A	CCDS55691.1																																																																																									0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		94.711548	-1	-1	96	96	NM_001035		31	95.203522	95.203522	44	0.413333	0	0	0	1	0	31	44	0.413333	A	237947564	G	A	237947564	2	1	14	1	0	0	0	0	0	0	0	1	13769	933	33	3		3	RYR2	1	237947564	Silent	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08		237947564	11303057	1	232											
NRXN1	9378	broad.mit.edu	37	2	51255230	51255230	+	Missense_Mutation	SNP	C	C	T	rs202205785		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:51255230C>T	ENST00000406316.2	-	2	1658	c.182G>A	c.(181-183)cGc>cAc	p.R61H	NRXN1_ENST00000401669.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R61H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R61H|NRXN1_ENST00000404971.1_Missense_Mutation_p.R61H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R61H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R61H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	61	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGGGCGCTGCGAGTCTTGAG	0.672																																						ENST00000404971.1											0			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(181-183)cGc>cAc	neurexin 1						10	14	13					2																	51255230		1987	4148	6135	SO:0001583	missense	9378			adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255230C>T	AB011150	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			2008-05-15			ENSG00000179915	ENSG00000179915	ENSG00000179915	ENSG00000179915				8008	8008	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600565	600565								Standard	Standard	NM_001135659	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	uc021vhj.1	P58400	P58400	OTTHUMG00000129263	OTTHUMG00000129263	ENST00000406316.2:c.182G>A	2.37:g.51255230C>T	ENSP00000384311:p.Arg61His		NRXN1_ENST00000406316.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R61H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R61H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R61H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R61H	p.R61H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1521	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	61	Laminin G-like 1.	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.182G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857806	0.51376	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	4.97	4.97	0.65823	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.041320	0.07849	U	0.964350	T	0.67050	0.2852	L	0.33485	1.01	0.27730	N	0.944834	B;B;P	0.50066	0.003;0.012;0.931	B;B;B	0.38378	0.005;0.005;0.272	T	0.55425	-0.8143	10	0.21540	T	0.41	.	11.7028	0.51581	0.0:0.9186:0.0:0.0814	.	61;61;61	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	H	61	ENSP00000385142:R61H;ENSP00000384311:R61H;ENSP00000434015:R61H;ENSP00000385017:R61H;ENSP00000385434:R61H;ENSP00000385681:R61H;ENSP00000385310:R61H	ENSP00000385017:R61H	R	-	2	0	0	NRXN1	51108734	51108734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.690000	0.61731	2.293000	0.77203	0.563000	0.77884	CGC		0.672	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		33.421350	6	6	15	15			11	33.623171	33.623171	16	0.407407	0	0	0	1	0	11	16	0.407407	T	51255230	C	T	51255230	3	4	14	1	0	0	0	0	1	0	0	0	10665	768	27	1	4816	1	NRXN1	2	51255230	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		51255230	191944143	2	233											
MYO7B	4648	broad.mit.edu	37	2	128324266	128324266	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:128324266C>T	ENST00000409816.2	+	4	366	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	MYO7B_ENST00000389524.4_Missense_Mutation_p.P112S|MYO7B_ENST00000428314.1_Missense_Mutation_p.P112S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	112	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGTGCTGCCGCTCTACAC	0.607																																						ENST00000389524.4											0			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(334-336)Ccg>Tcg	myosin VIIB						30	36	34					2																	128324266		2014	4169	6183	SO:0001583	missense	4648				apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128324266C>T			CCDS46405.1	CCDS46405.1	2q21.1	2011-09-27			2011-09-27			ENSG00000169994	ENSG00000169994	ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	"Myosins / Myosin superfamily : Class VII"	7607	7607	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606541	606541						8022818, 8884266	8022818, 8884266	Standard	Standard	NM_001080527	NM_001080527		Approved		uc002top.3	uc002top.3	Q6PIF6	Q6PIF6	OTTHUMG00000153419	OTTHUMG00000153419	ENST00000409816.2:c.334C>T	2.37:g.128324266C>T	ENSP00000386461:p.Pro112Ser		MYO7B_ENST00000409816.2_Missense_Mutation_p.P112S|MYO7B_ENST00000428314.1_Missense_Mutation_p.P112S	p.P112S			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	5	387	+	Colorectal(110;0.1)		112	Myosin head-like.	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.334C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110429	0.77210	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.73152	-0.72;-0.72;-0.72	5.55	5.55	0.83447	5.55	5.55	0.83447	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	M	0.77313	2.365	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.83690	0.0176	10	0.39692	T	0.17	.	19.5117	0.95144	0.0:1.0:0.0:0.0	.	112	Q6PIF6	MYO7B_HUMAN	S	112	ENSP00000374175:P112S;ENSP00000415090:P112S;ENSP00000386461:P112S	ENSP00000374175:P112S	P	+	1	0	0	MYO7B	128040736	128040736	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.725000	0.84808	2.595000	0.87683	0.561000	0.74099	CCG		0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3		7.016162	-8	-8	13	13	XM_291001		3	8.271877	8.271877	12	0.2	0	0	0	1	0	3	12	0.2	T	128324266	C	T	128324266	3	4	14	1	0	0	0	0	1	0	0	0	10083	739	26	2	348	2	MYO7B	2	128324266	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	77069036	128324266	114875107	3	234											
THSD7B	80731	broad.mit.edu	37	2	138208465	138208465	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:138208465A>C	ENST00000409968.1	+	15	3188	c.3010A>C	c.(3010-3012)Agc>Cgc	p.S1004R	THSD7B_ENST00000413152.2_Missense_Mutation_p.S973R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S1004R			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1004	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGCAAGTTAAGCGATTGGTC	0.388																																						ENST00000409968.1											0			NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3010-3012)Agc>Cgc	thrombospondin, type I, domain containing 7B						108	103	105					2																	138208465		1850	4119	5969	SO:0001583	missense	80731						g.chr2:138208465A>C					2q22.1	2006-11-24			2006-11-24			ENSG00000144229	ENSG00000144229	ENSG00000144229	ENSG00000144229				29348	29348	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11214970	11214970	Standard	Standard	NM_001080427	NM_001080427		Approved	KIAA1679	uc002tva.1	uc002tva.1	Q9C0I4	Q9C0I4	OTTHUMG00000153590	OTTHUMG00000153590	ENST00000409968.1:c.3010A>C	2.37:g.138208465A>C	ENSP00000387145:p.Ser1004Arg		THSD7B_ENST00000272643.3_Missense_Mutation_p.S1004R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S973R	p.S1004R						BRCA - Breast invasive adenocarcinoma(221;0.19)	15	3188	+						Missense_Mutation	SNP	ENST00000409968.1	37	c.3010A>C		.	.	.	.	.	.	.	.	.	.	A	27.7	4.852763	0.91355	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60171	2.03;0.21;0.21	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87170	0.2220	10	0.30854	T	0.27	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	973	C9JKN6	.	R	1004;1004;973	ENSP00000387145:S1004R;ENSP00000272643:S1004R;ENSP00000413841:S973R	ENSP00000272643:S1004R	S	+	1	0	0	THSD7B	137924935	137924935	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.244000	0.73946	0.533000	0.62120	AGC		0.388	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		8.655812	-1	-1	62	62	XM_046570.9		5	12.721848	12.721848	29	0.147059	0	0	0	1	0	5	29	0.147059	C	138208465	A	C	138208465	3	2	14	1	0	0	0	0	1	0	0	0	15877	72	3	5	2971	5	THSD7B	2	138208465	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08	9884199	138208465	104990908	4	235											
TTN	7273	broad.mit.edu	37	2	179437657	179437657	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:179437657G>A	ENST00000591111.1	-	276	68503	c.68279C>T	c.(68278-68280)gCc>gTc	p.A22760V	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21833V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15528V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A24401V|TTN_ENST00000359218.5_Missense_Mutation_p.A15461V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A15336V			Q8WZ42	TITIN_HUMAN	titin	22760	Fibronectin type-III 65. {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)			GGAATTCATGGCATAGATGCG	0.488																																						ENST00000589042.1											0			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						c.(73201-73203)gCc>gTc	titin						86	88	87					2																	179437657		1970	4149	6119	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437657G>A	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.68279C>T	2.37:g.179437657G>A	ENSP00000465570:p.Ala22760Val		TTN_ENST00000460472.2_Missense_Mutation_p.A15336V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15461V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15528V|TTN_ENST00000591111.1_Missense_Mutation_p.A22760V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21833V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.A24401V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	73426	-			22760	Fibronectin type-III 77.	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.73202C>T		.	.	.	.	.	.	.	.	.	.	G	15.79	2.937889	0.52972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.91	5.91	0.95273	5.91	5.91	0.95273	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88463	0.6443	H	0.98466	4.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.92146	0.5724	9	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	15336;15461;15528;22760	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	21833;15336;15528;15461;15334	ENSP00000343764:A21833V;ENSP00000434586:A15336V;ENSP00000340554:A15528V;ENSP00000352154:A15461V	ENSP00000340554:A15528V	A	-	2	0	0	TTN	179145903	179145903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.813000	0.96785	0.655000	0.94253	GCC		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		-0.507131	-15	-15	28	28	NM_133378		3	6.640546	6.640546	36	0.076923	0	0	0	1	0	3	36	0.076923	A	179437657	G	A	179437657	3	1	14	1	0	0	0	0	1	0	0	0	16732	1203	42	2	34925	2	TTN	2	179437657	Missense_Mutation	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08	41229192	179437657	63761716	5	236											
BAP1	8314	broad.mit.edu	37	3	52436649	52436659	+	Frame_Shift_Del	DEL	GATGAACTCAT	GATGAACTCAT	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr3:52436649_52436659delGATGAACTCAT	ENST00000460680.1	-	16	2486_2496	c.2015_2025delATGAGTTCATC	c.(2014-2025)gatgagttcatcfs	p.DEFI672fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D672G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TAAAGGTGCAGATGAACTCATCGTAGTTGTG	0.564			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Missense(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(2014-2025)gatgagttcatcfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001589	frameshift_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52436649_52436659delGATGAACTCAT	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.2015_2025delATGAGTTCATC	3:g.52436649_52436659delGATGAACTCAT	ENSP00000417132:p.Asp672fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	p.DEFI672fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	16	2486_2496	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1		c.2015_2025delATGAGTTCATC	CCDS2853.1																																																																																									0.564	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	2.697000e+01	9.029000e+01	8	8	100	100			22			7	0.786						22	7	0.786	-	52436659	GATGAACTCAT	-	52436649	7	5	14	1	0	1	0	1	0	0	0	0	1311	932	33	0	172	0	BAP1	3	52436649	Frame_Shift_Del	DEL	GATGAACTCAT	TCGA-V4-A9EI-01A-11D-A39W-08		52436649	145585781	6	237	2	2									
BAP1	8314	broad.mit.edu	37	3	52436650	52436659	+	Frame_Shift_Del	DEL	ATGAACTCAT	ATGAACTCAT	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr3:52436650_52436659delATGAACTCAT	ENST00000460680.1	-	16	2486_2495	c.2015_2024delATGAGTTCAT	c.(2014-2025)gatgagttcatcfs	p.DEFI672fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D672G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AAAGGTGCAGATGAACTCATCGTAGTTGTG	0.562			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Missense(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(2014-2025)gatgagttcatcfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001589	frameshift_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436650_52436659delATGAACTCAT	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.2015_2024delATGAGTTCAT	3.37:g.52436650_52436659delATGAACTCAT	ENSP00000417132:p.Asp672fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	p.DEFI672fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	16	2486_2495	-			672	Interaction with BRCA1.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.2015_2024delATGAGTTCAT	CCDS2853.1																																																																																									0.562	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	5	5	99	99			23			8	0.74						23	8	0.74	-	52436659	ATGAACTCAT	-	52436650	7	5	14	1	0	1	0	1	0	0	0	0	1311	333	12	0	173	0	BAP1	3	52436650	Frame_Shift_Del	DEL	ATGAACTCAT	TCGA-V4-A9EI-01A-11D-A39W-08	1	52436650	145585780	7	238	2	2									
POLK	51426	broad.mit.edu	37	5	74892575	74892575	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:74892575A>C	ENST00000241436.4	+	13	2229	c.2057A>C	c.(2056-2058)tAt>tCt	p.Y686S	POLK_ENST00000352007.5_Missense_Mutation_p.Y488S|POLK_ENST00000380481.3_Missense_Mutation_p.Y596S|POLK_ENST00000508526.1_Missense_Mutation_p.Y488S|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	686					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAGCAAGATTATGAAGCCCAT	0.318								DNA polymerases (catalytic subunits)																														ENST00000241436.4											0			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(2056-2058)tAt>tCt	polymerase (DNA directed) kappa						37	36	36					5																	74892575		2202	4300	6502	SO:0001583	missense	51426			DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892575A>C	AB027564	AB027564	CCDS4030.1	CCDS4030.1	5q13	2012-05-18			2012-05-18			ENSG00000122008	ENSG00000122008	ENSG00000122008	ENSG00000122008		"DNA polymerases"	"DNA polymerases"	9183	9183	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650	605650		DINB1		DINB1		10887153, 10518552	10887153, 10518552	Standard	Standard	NM_016218	NM_016218		Approved	POLQ, DINP	uc003kdw.3	uc003kdw.3	Q9UBT6	Q9UBT6	OTTHUMG00000102107	OTTHUMG00000102107	ENST00000241436.4:c.2057A>C	5.37:g.74892575A>C	ENSP00000241436:p.Tyr686Ser		POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.Y488S|POLK_ENST00000352007.5_Missense_Mutation_p.Y488S|POLK_ENST00000380481.3_Missense_Mutation_p.Y596S	p.Y686S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	2229	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	686		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.2057A>C	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472608	0.26423	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.53857	1.36;0.6;0.6;1.36	5.33	-2.43	0.06522	5.33	-2.43	0.06522	.	1.321200	0.04860	N	0.443877	T	0.39226	0.1070	L	0.51422	1.61	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.14337	-1.0476	10	0.25751	T	0.34	-0.0106	0.6121	0.00763	0.2808:0.3092:0.155:0.255	.	488;686	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	S	686;488;488;596	ENSP00000241436:Y686S;ENSP00000342256:Y488S;ENSP00000426853:Y488S;ENSP00000369848:Y596S	ENSP00000241436:Y686S	Y	+	2	0	0	POLK	74928331	74928331	0.000000	0.05858	0.002000	0.10522	0.933000	0.57130	-0.276000	0.08514	-0.120000	0.11809	0.533000	0.62120	TAT		0.318	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		19.614687	10	10	39	39	NM_016218		7	20.702367	20.702367	18	0.28	0	0	0	1	0	7	18	0.28	C	74892575	A	C	74892575	3	2	14	1	0	0	0	0	1	0	0	0	12204	449	16	5	2103	5	POLK	5	74892575	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08		74892575	106022685	8	239											
CHD1	1105	broad.mit.edu	37	5	98239547	98239547	+	Silent	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:98239547C>T	ENST00000284049.3	-	3	470	c.321G>A	c.(319-321)caG>caA	p.Q107Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	107					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	gctgctgctgctgttgctgct	0.393																																						ENST00000284049.3											0			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(319-321)caG>caA	chromodomain helicase DNA binding protein 1						104	99	100					5																	98239547		2203	4300	6503	SO:0001819	synonymous_variant	1105			regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98239547C>T	AF006513	AF006513	CCDS34204.1	CCDS34204.1	5q15-q21	2008-07-18			2008-07-18			ENSG00000153922	ENSG00000153922	ENSG00000153922	ENSG00000153922				1915	1915	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602118	602118						8460153, 9326634	8460153, 9326634	Standard	Standard	XM_005271866	XM_005271866		Approved		uc003knf.3	uc003knf.3	O14646	O14646	OTTHUMG00000162744	OTTHUMG00000162744	ENST00000284049.3:c.321G>A	5.37:g.98239547C>T				p.Q107Q	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	3	470	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	107		Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.321G>A	CCDS34204.1																																																																																									0.393	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		5.076688	2	2	41	41	NM_001270		4	9.233478	9.233478	27	0.129032	0	0	0	1	0	4	27	0.129032	T	98239547	C	T	98239547	2	4	14	1	0	0	0	0	0	0	0	1	3323	796	28	2		2	CHD1	5	98239547	Silent	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	23346972	98239547	82675713	9	240											
PCDHA9	9752	broad.mit.edu	37	5	140228118	140228118	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:140228118C>T	ENST00000532602.1	+	1	1071	c.38C>T	c.(37-39)cCt>cTt	p.P13L	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.P13L|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	13					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGTCAGCCTCTACTGCTC	0.507																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3											0			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(37-39)cCt>cTt							81	81	81					5																	140228118		2197	4267	6464	SO:0001583	missense	0						g.chr5:140228118C>T	AF152487	AF152487	CCDS54920.1	CCDS54920.1	5q31	2010-11-26			2010-11-26				ENSG00000204961		ENSG00000204961		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8675	8675	other	complex locus constituent	other	complex locus constituent	"KIAA0345-like 5"	"KIAA0345-like 5"	606315	606315						10380929	10380929	Standard	Standard	NM_031857	NM_031857		Approved	KIAA0345, PCDH-ALPHA9			Q9Y5H5	Q9Y5H5			ENST00000532602.1:c.38C>T	5.37:g.140228118C>T	ENSP00000436042:p.Pro13Leu		PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P13L|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	p.P13L	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	762	+					O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.38C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	3.196	-0.164741	0.06502	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.48836	0.88;0.8	3.73	-6.0	0.02206	3.73	-6.0	0.02206	Cadherin (1);	.	.	.	.	T	0.14614	0.0353	N	0.02973	-0.45	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17930	-1.0353	9	0.17369	T	0.5	.	0.774	0.01029	0.2604:0.112:0.2568:0.3708	.	13;13	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	L	13	ENSP00000436042:P13L;ENSP00000367362:P13L	ENSP00000367362:P13L	P	+	2	0	0	PCDHA9	140208302	140208302	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-2.344000	0.01098	-1.019000	0.03358	-0.362000	0.07510	CCT		0.507	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		173.047817	-85	-85	72	72	NM_031857		49	182.212737	182.212737	4	0.924528	0	0	0	1	0	49	4	0.924528	T	140228118	C	T	140228118	3	4	14	1	0	0	0	0	1	0	0	0	11531	681	24	3	40	3	PCDHA9	5	140228118	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	41988571	140228118	40687142	10	241											
CCDC99	54908	broad.mit.edu	37	5	169015526	169015526	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:169015526G>A	ENST00000265295.4	+	2	385	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GAGTCAAAATGAATTACAGAA	0.408																																						ENST00000265295.4											0										c.(106-108)Gaa>Aaa	spindle apparatus coiled-coil protein 1						109	105	106					5																	169015526		2203	4300	6503	SO:0001583	missense	54908						g.chr5:169015526G>A	BC012568	BC012568	CCDS4370.1	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275	ENSG00000040275	ENSG00000040275				26010	26010	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"	"spindly homolog (Drosophila)"			"coiled-coil domain containing 99"	CCDC99	"coiled-coil domain containing 99"	CCDC99		20427577	20427577	Standard	Standard	NM_017785	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	uc003mae.4	Q96EA4	Q96EA4	OTTHUMG00000130438	OTTHUMG00000130438	ENST00000265295.4:c.106G>A	5.37:g.169015526G>A	ENSP00000265295:p.Glu36Lys		SPDL1_ENST00000510751.1_3'UTR	p.E36K	NM_017785.4	NP_060255.3					2	385	+						Missense_Mutation	SNP	ENST00000265295.4	37	c.106G>A	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600100	0.46423	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.37235	1.21	5.6	3.83	0.44106	5.6	3.83	0.44106	.	0.205916	0.49916	D	0.000135	T	0.48314	0.1493	M	0.66939	2.045	0.20196	N	0.999925	D	0.69078	0.997	P	0.61800	0.894	T	0.33727	-0.9857	10	0.26408	T	0.33	-11.0134	7.7947	0.29140	0.1393:0.0:0.728:0.1327	.	36	Q96EA4	SPDLY_HUMAN	K	36	ENSP00000265295:E36K	ENSP00000265295:E36K	E	+	1	0	0	CCDC99	168948104	168948104	1.000000	0.71417	0.004000	0.12327	0.117000	0.20001	6.080000	0.71299	0.847000	0.35167	0.655000	0.94253	GAA		0.408	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2		55.147766	-1	-1	35	35	NM_017785		18	55.153665	55.153665	19	0.486486	0	0	0	1	0	18	19	0.486486	A	169015526	G	A	169015526	3	1	14	1	0	0	0	0	1	0	0	0	2876	1291	45	3	108	3	CCDC99	5	169015526	Missense_Mutation	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08	28787408	169015526	11899734	11	242											
FLJ36031	168455	broad.mit.edu	37	7	106301004	106301004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr7:106301004delC	ENST00000523505.1	-	1	438	c.339delG	c.(337-339)gggfs	p.G113fs		NM_175884.4	NP_787080.2	Q8N9Z2	CC71L_HUMAN	coiled-coil domain containing 71-like	113	Pro-rich.									endometrium(1)	1						CTGTAGGGGGCCCCGGGGGGT	0.761																																						ENST00000523505.1											0			endometrium(1)	1						c.(337-339)gggfs	coiled-coil domain containing 71-like						4	5	5					7																	106301004		1735	3902	5637	SO:0001589	frameshift_variant	168455						g.chr7:106301004delC			CCDS55151.1	CCDS55151.1	7q22.3	2011-12-12	2011-12-12	2011-12-12	2011-12-12	2011-12-12	2011-12-12	ENSG00000253276	ENSG00000253276	ENSG00000253276	ENSG00000253276				26685	26685	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 7 open reading frame 74"	C7orf74	"chromosome 7 open reading frame 74"	C7orf74		12477932	12477932	Standard	Standard	NM_175884	NM_175884		Approved	FLJ36031	uc003vdt.3	uc003vdt.3	Q8N9Z2	Q8N9Z2	OTTHUMG00000164150	OTTHUMG00000164150	ENST00000523505.1:c.339delG	7.37:g.106301004delC	ENSP00000430897:p.Gly113fs			p.G113fs	NM_175884.4	NP_787080.2	Q8N9Z2	YG034_HUMAN			1	438	-			113	Pro-rich.	Q7Z756	Frame_Shift_Del	DEL	ENST00000523505.1	37	c.339delG	CCDS55151.1																																																																																									0.761	CCDC71L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377493.1	.	.	5	5	5	5	NM_175884		2			4	0.33						2	4	0.33	-	106301004	C	-	106301004	7	5	14	1	0	1	0	1	0	0	0	0	5928	726	26	0	372	0	FLJ36031	7	106301004	Frame_Shift_Del	DEL	C	TCGA-V4-A9EI-01A-11D-A39W-08		106301004	52837659	12	243											
DYNC2H1	79659	broad.mit.edu	37	11	103175411	103175411	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr11:103175411T>A	ENST00000375735.2	+	77	11488	c.11344T>A	c.(11344-11346)Tta>Ata	p.L3782I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3789I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3782	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTGAAGAACTTACATCTTGT	0.393																																						ENST00000375735.2											0			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(11344-11346)Tta>Ata	dynein, cytoplasmic 2, heavy chain 1						99	99	99					11																	103175411		1874	4108	5982	SO:0001583	missense	79659			cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103175411T>A	AB082528	AB082528	CCDS44717.1, CCDS53701.1	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	"Cytoplasmic dyneins"	2962	2962	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603297	603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	9763680, 9373155	Standard	Standard	NM_001080463	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	uc001phn.1	Q8NCM8	Q8NCM8	OTTHUMG00000165941	OTTHUMG00000165941	ENST00000375735.2:c.11344T>A	11.37:g.103175411T>A	ENSP00000364887:p.Leu3782Ile		DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3789I	p.L3782I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	77	11488	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3782	AAA 6 (By similarity).	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.11344T>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927336	0.73327	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.05580	3.42;3.42	5.37	4.24	0.50183	5.37	4.24	0.50183	Dynein heavy chain (1);	0.000000	0.64402	D	0.000002	T	0.16257	0.0391	M	0.67700	2.07	0.58432	D	0.999996	D;D	0.71674	0.998;0.997	D;D	0.67382	0.951;0.919	T	0.03325	-1.1048	10	0.22109	T	0.4	.	7.423	0.27083	0.0:0.1523:0.0:0.8477	.	3782;3789	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3782;3789;28	ENSP00000364887:L3782I;ENSP00000381167:L3789I	ENSP00000364887:L3782I	L	+	1	2	2	DYNC2H1	102680621	102680621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.722000	0.54948	2.170000	0.68504	0.533000	0.62120	TTA		0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		111.617411	-3	-3	61	61	XM_370652		35	111.629915	111.629915	33	0.514706	0	0	0	1	0	35	33	0.514706	A	103175411	T	A	103175411	3	1	14	1	0	0	0	0	1	0	0	0	4846	1606	56	5	11675	5	DYNC2H1	11	103175411	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08		103175411	31831105	13	244											
NACA	4666	broad.mit.edu	37	12	57113207	57113207	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr12:57113207T>G	ENST00000454682.1	-	3	2388	c.2107A>C	c.(2107-2109)Aca>Cca	p.T703P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	703	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTGAAGCTGTAGGAACCAAG	0.493			T	BCL6	NHL																																	ENST00000454682.1		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2107-2109)Aca>Cca	nascent polypeptide-associated complex alpha subunit						43	39	40					12																	57113207		1568	3582	5150	SO:0001583	missense	4666			interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57113207T>G	X80909	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	ENSG00000196531	ENSG00000196531				7629	7629	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601234	601234	"nascent-polypeptide-associated complex alpha polypeptide"		"nascent-polypeptide-associated complex alpha polypeptide"			8047162	8047162	Standard	Standard	NM_001113202	NM_001113202		Approved	NACA1	uc001sma.2	uc001sma.2	E9PAV3	E9PAV3			ENST00000454682.1:c.2107A>C	12.37:g.57113207T>G	ENSP00000403817:p.Thr703Pro		NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	p.T703P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	2388	-			0			Missense_Mutation	SNP	ENST00000454682.1	37	c.2107A>C		.	.	.	.	.	.	.	.	.	.	T	10.10	1.258402	0.23051	.	.	ENSG00000196531	ENST00000454682	T	0.43294	0.95	3.63	-3.76	0.04359	3.63	-3.76	0.04359	.	.	.	.	.	T	0.18257	0.0438	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21518	-1.0243	7	.	.	.	.	1.1253	0.01733	0.2761:0.1577:0.3957:0.1705	.	703	E9PAV3	.	P	703	ENSP00000403817:T703P	.	T	-	1	0	0	NACA	55399474	55399474	0.001000	0.12720	0.246000	0.24233	0.393000	0.30537	-0.102000	0.10956	-0.412000	0.07519	0.369000	0.22263	ACA		0.493	NACA-201	KNOWN	basic	protein_coding	protein_coding			46.924342	-7	-7	24	24	NM_005594		15	46.924342	46.924342	15	0.5	0	0	0	1	0	15	15	0.5	G	57113207	T	G	57113207	3	3	14	1	0	0	0	0	1	0	0	0	10133	1638	57	5	4157	5	NACA	12	57113207	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08		57113207	76738688	14	245											
UTP14C	9724	broad.mit.edu	37	13	52605146	52605146	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr13:52605146G>T	ENST00000521776.2	+	2	2939	c.2206G>T	c.(2206-2208)Gtg>Ttg	p.V736L		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	736					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGCAGAGGATGTGGGCTACCA	0.478																																						ENST00000521776.2											0			breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(2206-2208)Gtg>Ttg	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)						127	118	121					13																	52605146		2203	4300	6503	SO:0001583	missense	9724			cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52605146G>T	D87455	D87455	CCDS31978.1	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797	ENSG00000253797	ENSG00000253797				20321	20321	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608969	608969	"KIAA0266"	KIAA0266	"KIAA0266"	KIAA0266		9039502, 16354793	9039502, 16354793	Standard	Standard	NM_021645	NM_021645		Approved	2700066J21Rik	uc021rjw.1	uc021rjw.1	Q5TAP6	Q5TAP6	OTTHUMG00000164353	OTTHUMG00000164353	ENST00000521776.2:c.2206G>T	13.37:g.52605146G>T	ENSP00000428619:p.Val736Leu			p.V736L	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	2939	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	736		Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.2206G>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593690	0.28445	.	.	ENSG00000253797	ENST00000521776	T	0.18810	2.19	3.04	3.04	0.35103	3.04	3.04	0.35103	.	0.465178	0.21554	N	0.072687	T	0.13157	0.0319	N	0.22421	0.69	0.35368	D	0.788773	B	0.29481	0.245	B	0.27170	0.077	T	0.21415	-1.0246	9	.	.	.	-18.0766	11.8685	0.52507	0.0:0.0:1.0:0.0	.	736	Q5TAP6	UT14C_HUMAN	L	736	ENSP00000428619:V736L	.	V	+	1	0	0	UTP14C	51503147	51503147	0.861000	0.29849	0.993000	0.49108	0.700000	0.40528	0.658000	0.24979	1.704000	0.51252	0.455000	0.32223	GTG		0.478	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2		150.667819	-3	-3	96	96	NM_021645		49	150.769112	150.769112	56	0.466667	1	0	1.61004e-24	1	1.65355e-24	49	56	0.466667	T	52605146	G	T	52605146	3	4	14	1	0	0	0	0	1	0	0	0	17093	1377	48	5	2208	5	UTP14C	13	52605146	Missense_Mutation	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08		52605146	62564732	15	246											
PCCA	5095	broad.mit.edu	37	13	101020822	101020822	+	Silent	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr13:101020822G>A	ENST00000376285.1	+	19	1778	c.1740G>A	c.(1738-1740)gtG>gtA	p.V580V	PCCA_ENST00000376286.4_Silent_p.V554V|PCCA_ENST00000376279.3_Silent_p.V580V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	580					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATGGGTCAGTGTTCTCGGTGA	0.358																																						ENST00000376285.1											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(1738-1740)gtG>gtA	propionyl CoA carboxylase, alpha polypeptide						151	139	143					13																	101020822		2203	4300	6503	SO:0001819	synonymous_variant	5095			fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:101020822G>A	X14608	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	ENSG00000175198	ENSG00000175198	6.4.1.3			8653	8653	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			232000	232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"		"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	1427880	Standard	Standard	NM_000282	NM_000282		Approved		uc001voo.3	uc001voo.3	P05165	P05165	OTTHUMG00000017284	OTTHUMG00000017284	ENST00000376285.1:c.1740G>A	13.37:g.101020822G>A			PCCA_ENST00000376279.3_Silent_p.V580V|PCCA_ENST00000376286.4_Silent_p.V554V	p.V580V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			19	1778	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		580		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	ENST00000376285.1	37	c.1740G>A	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409045	0.01155	.	.	ENSG00000175198	ENST00000458283;ENST00000413170	T;T	0.80214	-1.35;-1.35	4.77	-8.06	0.01102	4.77	-8.06	0.01102	.	0.721442	0.13129	N	0.411609	T	0.69700	0.3140	.	.	.	0.41553	D	0.988585	.	.	.	.	.	.	T	0.62224	-0.6899	7	0.34782	T	0.22	.	2.9267	0.05786	0.4481:0.1119:0.3308:0.1092	.	.	.	.	I	33;24	ENSP00000390850:V33I;ENSP00000411194:V24I	ENSP00000411194:V24I	V	+	1	0	0	PCCA	99818823	99818823	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.532000	0.02217	-1.733000	0.01357	-1.010000	0.02471	GTT		0.358	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		110.290766	-9	-9	44	44			36	110.425881	110.425881	43	0.455696	0	0	0	1	0	36	43	0.455696	A	101020822	G	A	101020822	2	1	14	1	0	0	0	0	0	0	0	1	11504	1364	48	3		3	PCCA	13	101020822	Silent	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08	48415676	101020822	14149056	16	247											
OR4K1	79544	broad.mit.edu	37	14	20404381	20404381	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:20404381G>A	ENST00000285600.4	+	1	615	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	186						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTGGTGATAGAGCTGGCTTG	0.443																																						ENST00000285600.4											0			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(556-558)Gag>Aag	olfactory receptor, family 4, subfamily K, member 1						163	167	166					14																	20404381		2203	4300	6503	SO:0001583	missense	79544			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404381G>A			CCDS32025.1	CCDS32025.1	14q11.2	2013-09-23			2013-09-23			ENSG00000155249	ENSG00000155249	ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	14726	14726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004063	NM_001004063		Approved		uc001vwj.2	uc001vwj.2	Q8NGD4	Q8NGD4	OTTHUMG00000170633	OTTHUMG00000170633	ENST00000285600.4:c.556G>A	14.37:g.20404381G>A	ENSP00000285600:p.Glu186Lys			p.E186K	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	615	+	all_cancers(95;0.00108)		186		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.556G>A	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	1.238	-0.622134	0.03636	.	.	ENSG00000155249	ENST00000285600	T	0.00019	9.06	4.82	2.75	0.32379	4.82	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.339759	0.25307	N	0.031619	T	0.00039	0.0001	N	0.00071	-2.27	0.23528	N	0.997481	B	0.02656	0.0	B	0.04013	0.001	T	0.44205	-0.9343	10	0.02654	T	1	.	3.9763	0.09476	0.2626:0.1908:0.5466:0.0	.	186	Q8NGD4	OR4K1_HUMAN	K	186	ENSP00000285600:E186K	ENSP00000285600:E186K	E	+	1	0	0	OR4K1	19474221	19474221	0.000000	0.05858	1.000000	0.80357	0.883000	0.51084	0.014000	0.13333	1.049000	0.40321	0.563000	0.77884	GAG		0.443	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1		148.926215	41	41	133	133			47	148.928575	148.928575	46	0.505376	0	0	0	1	0	47	46	0.505376	A	20404381	G	A	20404381	3	1	14	1	0	0	0	0	1	0	0	0	11067	943	33	3	558	3	OR4K1	14	20404381	Missense_Mutation	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08		20404381	86945159	17	248											
NIN	51199	broad.mit.edu	37	14	51243678	51243678	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:51243678C>T	ENST00000382041.3	-	7	845	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	NIN_ENST00000453196.1_Missense_Mutation_p.V219M|NIN_ENST00000389868.3_Missense_Mutation_p.V219M|NIN_ENST00000324330.9_Missense_Mutation_p.V219M|NIN_ENST00000245441.5_Missense_Mutation_p.V219M|NIN_ENST00000530997.2_Missense_Mutation_p.V219M|NIN_ENST00000382043.4_Missense_Mutation_p.V219M	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	219	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTCCATCCACATTCTGTAAA	0.463			T	PDGFRB	MPD																																	ENST00000245441.5		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(655-657)Gtg>Atg	ninein (GSK3B interacting protein)						112	103	106					14																	51243678		2203	4300	6503	SO:0001583	missense	51199			centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51243678C>T	AF212162	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			2013-01-10			ENSG00000100503	ENSG00000100503	ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	"EF-hand domain containing"	14906	14906	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608684	608684						11004522, 11162463	11004522, 11162463	Standard	Standard	NM_020921	NM_020921		Approved		uc001wyi.3	uc001wyi.3	Q8N4C6	Q8N4C6	OTTHUMG00000029569	OTTHUMG00000029569	ENST00000382041.3:c.655G>A	14.37:g.51243678C>T	ENSP00000371472:p.Val219Met		NIN_ENST00000389868.3_Missense_Mutation_p.V219M|NIN_ENST00000324330.9_Missense_Mutation_p.V219M|NIN_ENST00000382043.4_Missense_Mutation_p.V219M|NIN_ENST00000530997.2_Missense_Mutation_p.V219M|NIN_ENST00000382041.3_Missense_Mutation_p.V219M|NIN_ENST00000453196.1_Missense_Mutation_p.V219M	p.V219M	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN			7	845	-	all_epithelial(31;0.00244)|Breast(41;0.127)		219	EF-hand 4.	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.655G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496083	0.26774	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;2.94	5.76	2.63	0.31362	5.76	2.63	0.31362	EF-hand-like domain (1);	0.820569	0.11182	N	0.590829	T	0.38241	0.1033	N	0.19112	0.55	0.09310	N	1	P;P;D;P;P	0.57257	0.944;0.953;0.979;0.664;0.928	P;P;D;B;P	0.63877	0.757;0.812;0.919;0.22;0.79	T	0.16719	-1.0393	10	0.66056	D	0.02	-2.8812	5.2241	0.15385	0.1291:0.5465:0.0:0.3244	.	225;219;219;219;219	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	M	219;219;219;219;225;219;219;219;181	ENSP00000245441:V219M;ENSP00000374518:V219M;ENSP00000371474:V219M;ENSP00000371472:V219M;ENSP00000324210:V219M;ENSP00000412391:V219M;ENSP00000398641:V181M	ENSP00000245441:V219M	V	-	1	0	0	NIN	50313428	50313428	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-0.169000	0.09911	0.289000	0.22422	-0.150000	0.13652	GTG		0.463	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		135.353575	-7	-7	99	99	NM_182946		45	136.07715	136.07715	64	0.412844	0	0	0	1	0	45	64	0.412844	T	51243678	C	T	51243678	3	4	14	1	0	0	0	0	1	0	0	0	10417	478	17	3	5994	3	NIN	14	51243678	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	30839297	51243678	56105862	18	249											
BTBD7	55727	broad.mit.edu	37	14	93760636	93760636	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:93760636T>G	ENST00000334746.5	-	3	1037	c.730A>C	c.(730-732)Atg>Ctg	p.M244L	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.M244L|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000555525.1_Missense_Mutation_p.M244L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	244					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TAATAACACATGTAATCAAAG	0.388																																						ENST00000334746.5											0			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(730-732)Atg>Ctg	BTB (POZ) domain containing 7						77	74	75					14																	93760636		2203	4300	6503	SO:0001583	missense	55727						g.chr14:93760636T>G	AB040958	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			2013-01-08			ENSG00000011114	ENSG00000011114	ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	"BTB/POZ domain containing"	18269	18269	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610386	610386						10819331, 11527404	10819331, 11527404	Standard	Standard	NM_001289133	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	uc001ybo.3	Q9P203	Q9P203	OTTHUMG00000171269	OTTHUMG00000171269	ENST00000334746.5:c.730A>C	14.37:g.93760636T>G	ENSP00000335615:p.Met244Leu		BTBD7_ENST00000298896.3_Missense_Mutation_p.M244L|BTBD7_ENST00000555525.1_Missense_Mutation_p.M244L|BTBD7_ENST00000554565.1_Intron	p.M244L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	1037	-		all_cancers(154;0.08)	244		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.730A>C	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996998	0.54147	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525	T	0.35789	1.29	5.59	5.59	0.84812	5.59	5.59	0.84812	BTB/POZ-like (1);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	L	0.36672	1.1	0.80722	D	1	B;B;P	0.40032	0.257;0.257;0.699	P;P;P	0.58130	0.557;0.455;0.833	T	0.18871	-1.0323	10	0.02654	T	1	.	15.7558	0.78021	0.0:0.0:0.0:1.0	.	244;244;244	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	L	244	ENSP00000335615:M244L	ENSP00000298896:M244L	M	-	1	0	0	BTBD7	92830389	92830389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.122000	0.65172	0.533000	0.62120	ATG		0.388	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		116.947184	2	2	80	80	NM_001002860		37	117.20877	117.20877	47	0.440476	0	0	0	1	0	37	47	0.440476	G	93760636	T	G	93760636	3	3	14	1	0	0	0	0	1	0	0	0	1546	1464	51	5	2779	5	BTBD7	14	93760636	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08	42516958	93760636	13588904	19	250											
DYNC1H1	1778	broad.mit.edu	37	14	102498624	102498624	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:102498624A>G	ENST00000360184.4	+	52	10063	c.9899A>G	c.(9898-9900)aAg>aGg	p.K3300R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3300	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGTCGATCAAGAAGCAGCAC	0.572																																						ENST00000360184.4											0			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(9898-9900)aAg>aGg	dynein, cytoplasmic 1, heavy chain 1						214	197	203					14																	102498624		2203	4300	6503	SO:0001583	missense	1778			cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102498624A>G	AB002323	AB002323	CCDS9966.1	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		ENSG00000197102		"Cytoplasmic dyneins"	"Cytoplasmic dyneins"	2961	2961	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600112	600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	16260502, 8666668	Standard	Standard	NM_001376	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	uc001yks.2	Q14204	Q14204			ENST00000360184.4:c.9899A>G	14.37:g.102498624A>G	ENSP00000348965:p.Lys3300Arg			p.K3300R	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			52	10063	+			3300	Stalk (By similarity).	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9899A>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430806	0.62844	.	.	ENSG00000197102	ENST00000360184	T	0.74315	-0.83	5.3	5.3	0.74995	5.3	5.3	0.74995	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	L	0.60455	1.87	0.80722	D	1	B	0.16166	0.016	B	0.20955	0.032	T	0.69506	-0.5127	10	0.48119	T	0.1	.	15.5463	0.76104	1.0:0.0:0.0:0.0	.	3300	Q14204	DYHC1_HUMAN	R	3300	ENSP00000348965:K3300R	ENSP00000348965:K3300R	K	+	2	0	0	DYNC1H1	101568377	101568377	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.229000	0.95273	2.135000	0.66039	0.383000	0.25322	AAG		0.572	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		204.627978	-23	-23	330	330	NM_001376		74	218.189401	218.189401	203	0.267148	0	0	0	1	0	74	203	0.267148	G	102498624	A	G	102498624	3	3	14	1	0	0	0	0	1	0	0	0	4841	72	3	4	10105	4	DYNC1H1	14	102498624	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08	8737988	102498624	4850916	20	251											
OR4M2	390538	broad.mit.edu	37	15	22368716	22368716	+	Silent	SNP	C	C	T	rs148996699		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:22368716C>T	ENST00000332663.2	+	1	239	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATCATTTGCACCATCAGTC	0.423																																						ENST00000332663.2											0			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(139-141)tgC>tgT	olfactory receptor, family 4, subfamily M, member 2			0,4406		0,0,2203	481	418	439		141	1.5	1	15	dbSNP_134	439	1,8599		0,1,4299	no	coding-synonymous	OR4M2	NM_001004719.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		47/314	22368716	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390538			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368716C>T	AC060768	AC060768	CCDS32172.1	CCDS32172.1	15q11.2	2013-09-23			2013-09-23			ENSG00000182974	ENSG00000182974	ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	15373	15373	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004719	NM_001004719		Approved		uc010tzu.2	uc010tzu.2	Q8NGB6	Q8NGB6	OTTHUMG00000171738	OTTHUMG00000171738	ENST00000332663.2:c.141C>T	15.37:g.22368716C>T			RP11-69H14.6_ENST00000558896.1_RNA	p.C47C	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	239	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	47		B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	c.141C>T	CCDS32172.1																																																																																									0.423	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		-49.501279	-260	-260	212	212			4	6.579928	6.579928	211	0.018605	0	0	0	1	0	4	211	0.018605	T	22368716	C	T	22368716	2	4	14	1	0	0	0	0	0	0	0	1	11076	718	25	2		2	OR4M2	15	22368716	Silent	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		22368716	80162676	21	252											
SNRPA1	6627	broad.mit.edu	37	15	101835317	101835317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:101835317delC	ENST00000254193.6	-	1	139	c.67delG	c.(67-69)gagfs	p.E23fs	SNRPA1_ENST00000560856.1_5'UTR|RP11-299G20.2_ENST00000558838.1_RNA	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	23					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGTCCAGCTCCCGGTCGCGC	0.711																																						ENST00000254193.6											0			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(67-69)gagfs	small nuclear ribonucleoprotein polypeptide A'						6	6	6					15																	101835317		2073	4098	6171	SO:0001589	frameshift_variant	6627				catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101835317delC	AJ130971	AJ130971	CCDS10391.1	CCDS10391.1	15q26.3	2011-10-11			2011-10-11			ENSG00000131876	ENSG00000131876	ENSG00000131876	ENSG00000131876				11152	11152	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603521	603521						2928112	2928112	Standard	Standard	NM_003090	NM_003090		Approved	Lea1	uc002bww.3	uc002bww.3	P09661	P09661	OTTHUMG00000149871	OTTHUMG00000149871	ENST00000254193.6:c.67delG	15.37:g.101835317delC	ENSP00000254193:p.Glu23fs		SNRPA1_ENST00000560856.1_5'UTR	p.E23fs	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		1	139	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		23		B2R5I6|Q8TBD2	Frame_Shift_Del	DEL	ENST00000254193.6	37	c.67delG	CCDS10391.1																																																																																									0.711	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	.	.	1	1	6	6	NM_003090		2			4	0.33						2	4	0.33	-	101835317	C	-	101835317	7	5	14	1	0	1	0	1	0	0	0	0	14860	864	30	0	736	0	SNRPA1	15	101835317	Frame_Shift_Del	DEL	C	TCGA-V4-A9EI-01A-11D-A39W-08	79466601	101835317	696075	22	253											
PDXDC1	23042	broad.mit.edu	37	16	15102697	15102697	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr16:15102697A>T	ENST00000396410.4	+	7	738	c.641A>T	c.(640-642)cAt>cTt	p.H214L	PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H214L|PDXDC1_ENST00000450288.2_Missense_Mutation_p.H186L|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H123L|MIR1972-1_ENST00000459337.1_RNA|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H187L|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H232L|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H199L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	214					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATCCCAGCATCAGATGGTG	0.438																																						ENST00000396410.4											0			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(640-642)cAt>cTt	pyridoxal-dependent decarboxylase domain containing 1						361	327	338					16																	15102697		2197	4300	6497	SO:0001583	missense	23042			carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15102697A>T	AK025504, BX647809	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05			2008-02-05										28995	28995	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614244	614244								Standard	Standard	XM_005255173	XM_005255173		Approved	KIAA0251	uc002dda.4	uc002dda.4	Q6P996	Q6P996	OTTHUMG00000166304	OTTHUMG00000166304	ENST00000396410.4:c.641A>T	16.37:g.15102697A>T	ENSP00000379691:p.His214Leu		PDXDC1_ENST00000450288.2_Missense_Mutation_p.H186L|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H232L|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H123L|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H187L|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H199L|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H214L	p.H214L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN			7	738	+			214		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.641A>T	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	A	33	5.237105	0.95240	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.8	5.8	0.92144	5.8	5.8	0.92144	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	L	0.33668	1.02	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.996;1.0;0.996;0.999;0.998	D;D;D;D;D;D	0.79784	0.984;0.968;0.993;0.97;0.989;0.984	T	0.28299	-1.0048	10	0.18710	T	0.47	-18.0121	15.327	0.74172	1.0:0.0:0.0:0.0	.	186;123;199;214;186;214	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996	.;.;.;.;.;PDXD1_HUMAN	L	199;123;214;214;186	ENSP00000322807:H199L;ENSP00000400310:H123L;ENSP00000437835:H214L;ENSP00000379691:H214L;ENSP00000391147:H186L	ENSP00000322807:H199L	H	+	2	0	0	PDXDC1	15010198	15010198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.488000	0.90458	2.221000	0.72209	0.528000	0.53228	CAT		0.438	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2		55.959181	24	24	192	192	NM_015027		29	75.629828	75.629828	151	0.161111	0	0	0	1	0	29	151	0.161111	T	15102697	A	T	15102697	3	4	14	1	0	0	0	0	1	0	0	0	11696	217	8	5	667	5	PDXDC1	16	15102697	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08		15102697	75252056	23	254											
PER1	5187	broad.mit.edu	37	17	8044505	8044505	+	Missense_Mutation	SNP	C	C	T	rs535590026		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr17:8044505C>T	ENST00000317276.4	-	23	3991	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.E1229K	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1252	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGCCTCCTCGCAGCCCTCT	0.637			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					C|||	1	0.000199681	8e-04	0	5008	,	,		18704	0		0	False		,,,				2504	0					ENST00000317276.4		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3754-3756)Gag>Aag	period circadian clock 1						140	152	148					17																	8044505		2203	4300	6503	SO:0001583	missense	5187			circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8044505C>T	AB002107	AB002107	CCDS11131.1	CCDS11131.1	17p13.1	2012-12-13	2012-12-13		2012-12-13	2012-12-13			ENSG00000179094		ENSG00000179094				8845	8845	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602260	602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	9323128	Standard	Standard	NM_002616	NM_002616		Approved	RIGUI	uc002gkd.3	uc002gkd.3	O15534	O15534			ENST00000317276.4:c.3754G>A	17.37:g.8044505C>T	ENSP00000314420:p.Glu1252Lys		PER1_ENST00000581082.1_Missense_Mutation_p.E1229K	p.E1252K	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			23	3991	-			1252	CRY binding domain (By similarity).	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3754G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	6.619	0.482655	0.12581	.	.	ENSG00000179094	ENST00000317276	T	0.12879	2.64	3.79	1.78	0.24846	3.79	1.78	0.24846	.	1.104460	0.06956	N	0.815542	T	0.04907	0.0132	N	0.14661	0.345	0.19300	N	0.999979	P;B	0.43352	0.804;0.043	B;B	0.19946	0.027;0.012	T	0.25187	-1.0139	10	0.12766	T	0.61	-2.0E-4	5.7603	0.18196	0.0:0.7549:0.0:0.2451	.	1243;1252	A2I2P6;O15534	.;PER1_HUMAN	K	1252	ENSP00000314420:E1252K	ENSP00000314420:E1252K	E	-	1	0	0	PER1	7985230	7985230	0.000000	0.05858	0.103000	0.21229	0.127000	0.20565	-0.083000	0.11286	0.578000	0.29487	0.491000	0.48974	GAG		0.637	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2		197.366121	-41	-41	206	206			59	203.846041	203.846041	14	0.808219	0	0	0	1	0	59	14	0.808219	T	8044505	C	T	8044505	3	4	14	1	0	0	0	0	1	0	0	0	11729	893	31	1	122	1	PER1	17	8044505	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		8044505	73150705	24	255											
MC2R	4158	broad.mit.edu	37	18	13885229	13885229	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr18:13885229T>A	ENST00000327606.3	-	2	469	c.289A>T	c.(289-291)Agt>Tgt	p.S97C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	97					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GTTTCAAAACTGCCACGTGGC	0.483																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(289-291)Agt>Tgt	melanocortin 2 receptor (adrenocorticotropic hormone)						123	95	105					18																	13885229		2203	4300	6503	SO:0001583	missense	0			G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885229T>A			CCDS11869.1	CCDS11869.1	18p11.2	2012-08-10			2012-08-10			ENSG00000185231	ENSG00000185231	ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	"GPCR / Class A : Melanocortin receptors"	6930	6930	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607397	607397						8390157	8390157	Standard	Standard	NM_001291911	NM_001291911		Approved	ACTHR	uc002ksp.1	uc002ksp.1	Q01718	Q01718	OTTHUMG00000131721	OTTHUMG00000131721	ENST00000327606.3:c.289A>T	18.37:g.13885229T>A	ENSP00000333821:p.Ser97Cys			p.S97C	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	469	-			97		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.289A>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	T	9.702	1.154633	0.21371	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;T	0.37584	2.06;1.19	4.47	-1.3	0.09259	4.47	-1.3	0.09259	GPCR, rhodopsin-like superfamily (1);	0.838596	0.11007	N	0.609919	T	0.25680	0.0625	N	0.20845	0.615	0.09310	N	1	P	0.42518	0.782	P	0.46172	0.506	T	0.19910	-1.0291	10	0.87932	D	0	.	5.1088	0.14798	0.0:0.3521:0.2945:0.3534	.	97	Q01718	ACTHR_HUMAN	C	97	ENSP00000333821:S97C;ENSP00000382718:S97C	ENSP00000333821:S97C	S	-	1	0	0	MC2R	13875229	13875229	0.000000	0.05858	0.003000	0.11579	0.041000	0.13682	-0.841000	0.04359	-0.065000	0.13021	0.528000	0.53228	AGT		0.483	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		125.425116	13	13	101	101			39	125.42793	125.42793	38	0.506494	0	0	0	1	0	39	38	0.506494	A	13885229	T	A	13885229	3	1	14	1	0	0	0	0	1	0	0	0	9364	1580	55	5	608	5	MC2R	18	13885229	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08		13885229	64192019	25	256											
SBNO2	22904	broad.mit.edu	37	19	1119013	1119013	+	Silent	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:1119013C>T	ENST00000361757.3	-	14	1761	c.1524G>A	c.(1522-1524)ctG>ctA	p.L508L	SBNO2_ENST00000438103.2_Silent_p.L451L|SBNO2_ENST00000587024.1_Silent_p.L508L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	508					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCACCAGCAGGGCCGCGC	0.667																																						ENST00000361757.3											0			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1522-1524)ctG>ctA	strawberry notch homolog 2 (Drosophila)						20	26	24					19																	1119013		2122	4219	6341	SO:0001819	synonymous_variant	22904			macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1119013C>T	AK074102	AK074102	CCDS45894.1, CCDS45895.1	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932		ENSG00000064932				29158	29158	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615729	615729	"KIAA0963"	KIAA0963	"KIAA0963"	KIAA0963		10231032	10231032	Standard	Standard	NM_014963	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	uc002lrk.4	Q9Y2G9	Q9Y2G9			ENST00000361757.3:c.1524G>A	19.37:g.1119013C>T			SBNO2_ENST00000438103.2_Silent_p.L451L|SBNO2_ENST00000587024.1_Silent_p.L508L	p.L508L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1761	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	508		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.1524G>A	CCDS45894.1																																																																																									0.667	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2		7.020773	11	11	16	16	NM_014963		3	7.242792	7.242792	6	0.333333	0	0	0	1	0	3	6	0.333333	T	1119013	C	T	1119013	2	4	14	1	0	0	0	0	0	0	0	1	13863	697	25	2		2	SBNO2	19	1119013	Silent	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		1119013	58009970	26	257											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		51.939996	5	5	86	86	NM_002067		18	52.33376	52.33376	27	0.4	0	0	0	1	0	18	27	0.4	T	3118942	A	T	3118942	3	4	14	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08	1999929	3118942	56010041	27	258											
ZNF20	7568	broad.mit.edu	37	19	12244189	12244189	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:12244189C>T	ENST00000334213.5	-	4	1036	c.812G>A	c.(811-813)cGt>cAt	p.R271H	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	271					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(1)|kidney(1)|lung(6)	8						TTTATGTCTACGAATTTCACT	0.398																																						ENST00000334213.5											0			endometrium(1)|kidney(1)|lung(6)	8						c.(811-813)cGt>cAt	zinc finger protein 20						75	80	78					19																	12244189		2195	4299	6494	SO:0001583	missense	7568			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12244189C>T	X52344	X52344	CCDS45986.1	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010	ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	12992	12992	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			194557	194557	"zinc finger protein 20 (KOX 13)"		"zinc finger protein 20 (KOX 13)"					Standard	Standard	NM_021143	NM_021143		Approved	KOX13	uc002mtf.2	uc002mtf.2	P17024	P17024	OTTHUMG00000156409	OTTHUMG00000156409	ENST00000334213.5:c.812G>A	19.37:g.12244189C>T	ENSP00000335437:p.Arg271His		ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	p.R271H	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN			4	1036	-			271		Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	c.812G>A	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	C	2.249	-0.372079	0.05034	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.08102	3.13	1.09	-2.17	0.07059	1.09	-2.17	0.07059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	L	0.47190	1.495	0.09310	N	1	B	0.27316	0.175	B	0.12837	0.008	T	0.44406	-0.9330	9	0.17832	T	0.49	.	0.2282	0.00177	0.2049:0.2427:0.2042:0.3482	.	271	P17024	ZNF20_HUMAN	H	271	ENSP00000335437:R271H	ENSP00000292241:R271H	R	-	2	0	0	ZNF20	12105189	12105189	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-1.041000	0.03542	-1.161000	0.02800	-0.671000	0.03813	CGT		0.398	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1		57.113080	-9	-9	67	67	NM_021143		19	57.840348	57.840348	32	0.372549	0	0	0	1	0	19	32	0.372549	T	12244189	C	T	12244189	3	4	14	1	0	0	0	0	1	0	0	0	17758	536	19	1	790	1	ZNF20	19	12244189	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	9125247	12244189	46884794	28	259											
ANKRD27	84079	broad.mit.edu	37	19	33137370	33137370	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:33137370C>T	ENST00000306065.4	-	4	523	c.365G>A	c.(364-366)aGt>aAt	p.S122N	ANKRD27_ENST00000587352.1_Missense_Mutation_p.S122N	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	122					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AATACCTGAACTCTCTCTCTT	0.388																																						ENST00000306065.4											0			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(364-366)aGt>aAt	ankyrin repeat domain 27 (VPS9 domain)						75	78	77					19																	33137370		2203	4300	6503	SO:0001583	missense	84079			early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33137370C>T	AK054561	AK054561	CCDS32986.1	CCDS32986.1	19q13.12	2013-01-10			2013-01-10				ENSG00000105186		ENSG00000105186		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	25310	25310	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"	"Vps9 domain and ankyrin-repeat-containing protein"								11230166, 16525121	11230166, 16525121	Standard	Standard	NM_032139	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	uc002ntn.1	Q96NW4	Q96NW4			ENST00000306065.4:c.365G>A	19.37:g.33137370C>T	ENSP00000304292:p.Ser122Asn		ANKRD27_ENST00000587352.1_Missense_Mutation_p.S122N	p.S122N	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			4	523	-	Esophageal squamous(110;0.137)		122		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.365G>A	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448285	0.26074	.	.	ENSG00000105186	ENST00000306065	T	0.62232	0.04	5.24	2.92	0.33932	5.24	2.92	0.33932	.	0.275126	0.31427	N	0.007680	T	0.36110	0.0955	N	0.12182	0.205	0.09310	N	0.999996	B	0.11235	0.004	B	0.09377	0.004	T	0.11084	-1.0602	10	0.18276	T	0.48	-9.9338	5.9057	0.19001	0.0:0.5001:0.3156:0.1842	.	122	Q96NW4	ANR27_HUMAN	N	122	ENSP00000304292:S122N	ENSP00000304292:S122N	S	-	2	0	0	ANKRD27	37829210	37829210	0.994000	0.37717	0.969000	0.41365	0.988000	0.76386	0.479000	0.22228	1.183000	0.42943	0.545000	0.68477	AGT		0.388	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		45.680745	35	35	116	116	NM_032139		19	51.089035	51.089035	63	0.231707	0	0	0	1	0	19	63	0.231707	T	33137370	C	T	33137370	3	4	14	1	0	0	0	0	1	0	0	0	655	565	20	3	2891	3	ANKRD27	19	33137370	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	20893181	33137370	25991613	29	260											
RYR2	6262	ucsc.edu	37	1	237969576	237969576	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr1:237969576G>A	ENST00000366574.2	+	99	14608	c.14291G>A	c.(14290-14292)gGc>gAc	p.G4764D	RYR2_ENST00000542537.1_Missense_Mutation_p.G4748D|RYR2_ENST00000360064.6_Missense_Mutation_p.G4770D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4764					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTCACAATGGCAAACAGGTA	0.353																																																	0																	145	129	134					1																	237969576		1867	4105	5972	SO:0001583	missense	6262							X91869	X91869	CCDS55691.1	CCDS55691.1	1q43	2014-09-17			2014-09-17			ENSG00000198626	ENSG00000198626	ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	10484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180902	180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	2380170, 8406504, 11159936	Standard	Standard	NM_001035	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	uc001hyl.1	Q92736	Q92736	OTTHUMG00000039543	OTTHUMG00000039543	ENST00000366574.2:c.14291G>A	1.37:g.237969576G>A	ENSP00000355533:p.Gly4764Asp																	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37		CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096756	0.94197	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98512	-4.97;-4.97;-4.97	5.43	5.43	0.79202	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.64402	U	0.000008	D	0.99275	0.9747	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99032	1.0821	10	0.72032	D	0.01	.	19.5999	0.95557	0.0:0.0:1.0:0.0	.	197;4764	F5H3C7;Q92736	.;RYR2_HUMAN	D	4764;4770;4748;197	ENSP00000355533:G4764D;ENSP00000353174:G4770D;ENSP00000443798:G4748D	ENSP00000353174:G4770D	G	+	2	0	0	RYR2	236036199	236036199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.775000	0.98995	2.700000	0.92200	0.655000	0.94253	GGC		0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2			-9	-9	46	46	NM_001035		4			35							4	35		A	237969576	G	A	237969576	3	1	15	1	0	0	0	0	1	0	0	0	13769	1203	42	2	14685	2	RYR2	1	237969576	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		237969576	11281045	1	261											
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95	92	93					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		52.068003	-4	-4	50	50			17	52.328798	52.328798	24	0.414634	0	0	0	1	0	17	24	0.414634	T	198267483	C	T	198267483	3	4	15	1	0	0	0	0	1	0	0	0	14149	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		198267483	44931890	2	262											
SEL1L3	23231	broad.mit.edu	37	4	25836895	25836895	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr4:25836895C>T	ENST00000399878.3	-	3	906	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G227S|SEL1L3_ENST00000502949.1_Missense_Mutation_p.G109S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	262						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTGACAATGCCTGTGTTTTCT	0.502																																						ENST00000399878.3											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(784-786)Ggc>Agc	sel-1 suppressor of lin-12-like 3 (C. elegans)						103	103	103					4																	25836895		1941	4131	6072	SO:0001583	missense	23231				integral to membrane	binding	g.chr4:25836895C>T	BC009945	BC009945	CCDS47037.1, CCDS75113.1	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			2009-09-24			ENSG00000091490	ENSG00000091490	ENSG00000091490	ENSG00000091490				29108	29108	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"KIAA0746 protein"	"KIAA0746 protein"								9872452	9872452	Standard	Standard	XM_005248143	XM_005248143		Approved	KIAA0746	uc003gru.4	uc003gru.4	Q68CR1	Q68CR1	OTTHUMG00000160331	OTTHUMG00000160331	ENST00000399878.3:c.784G>A	4.37:g.25836895C>T	ENSP00000382767:p.Gly262Ser		SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G227S|SEL1L3_ENST00000502949.1_Missense_Mutation_p.G109S	p.G262S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			3	906	-			262		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.784G>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628071	0.87560	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.15372	2.43;2.43;2.43	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	M	0.71581	2.175	0.44862	D	0.997878	D	0.89917	1.0	D	0.97110	1.0	T	0.18335	-1.0340	10	0.87932	D	0	-21.3216	17.4575	0.87611	0.0:1.0:0.0:0.0	.	262	Q68CR1	SE1L3_HUMAN	S	262;227;109	ENSP00000382767:G262S;ENSP00000264868:G227S;ENSP00000425438:G109S	ENSP00000264868:G227S	G	-	1	0	0	SEL1L3	25445993	25445993	0.998000	0.40836	0.981000	0.43875	0.545000	0.35147	4.325000	0.59234	2.865000	0.98341	0.655000	0.94253	GGC		0.502	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1		95.969465	-18	-18	74	74	NM_015187		32	96.324513	96.324513	43	0.426667	0	0	0	1	0	32	43	0.426667	T	25836895	C	T	25836895	3	4	15	1	0	0	0	0	1	0	0	0	14012	681	24	3	2702	3	SEL1L3	4	25836895	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		25836895	165317381	3	263											
PDE8B	8622	broad.mit.edu	37	5	76607856	76607856	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr5:76607856G>A	ENST00000264917.5	+	2	422	c.377G>A	c.(376-378)aGa>aAa	p.R126K	PDE8B_ENST00000340978.3_Missense_Mutation_p.R126K|PDE8B_ENST00000333194.4_Missense_Mutation_p.R126K|PDE8B_ENST00000346042.3_Missense_Mutation_p.R126K|PDE8B_ENST00000342343.4_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	126					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GGGCCCATGAGACTGACGCAG	0.433																																						ENST00000264917.5											0			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(376-378)aGa>aAa	phosphodiesterase 8B						198	191	193					5																	76607856		2203	4300	6503	SO:0001583	missense	8622			cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76607856G>A	AF079529	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			2008-05-15			ENSG00000113231	ENSG00000113231	ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	"Phosphodiesterases"	8794	8794	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603390	603390						9784418	9784418	Standard	Standard	NM_003719	NM_003719		Approved		uc003kfa.3	uc003kfa.3	O95263	O95263	OTTHUMG00000102170	OTTHUMG00000102170	ENST00000264917.5:c.377G>A	5.37:g.76607856G>A	ENSP00000264917:p.Arg126Lys		PDE8B_ENST00000333194.4_Missense_Mutation_p.R126K|PDE8B_ENST00000346042.3_Missense_Mutation_p.R126K|PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.R126K	p.R126K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	2	422	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	126		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.377G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068457	0.55539	.	.	ENSG00000113231	ENST00000505926;ENST00000340978;ENST00000346042;ENST00000264917;ENST00000333194;ENST00000502945	T;T;T;T;T;T	0.71698	0.92;-0.54;-0.53;-0.59;-0.5;0.94	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.053151	0.85682	D	0.000000	T	0.57021	0.2025	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.23650	0.086;0.007;0.03;0.089	B;B;B;B	0.28991	0.097;0.019;0.029;0.05	T	0.50162	-0.8860	10	0.12430	T	0.62	.	14.6965	0.69126	0.0:0.0:1.0:0.0	.	126;126;126;126	O95263-2;O95263-6;O95263-3;O95263	.;.;.;PDE8B_HUMAN	K	2;126;126;126;126;2	ENSP00000425720:R2K;ENSP00000345446:R126K;ENSP00000330428:R126K;ENSP00000264917:R126K;ENSP00000331336:R126K;ENSP00000426200:R2K	ENSP00000264917:R126K	R	+	2	0	0	PDE8B	76643612	76643612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.182000	0.65059	2.937000	0.99478	0.650000	0.86243	AGA		0.433	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3		104.050817	4	4	102	102	NM_003719		34	104.098492	104.098492	38	0.472222	0	0	0	1	0	34	38	0.472222	A	76607856	G	A	76607856	3	1	15	1	0	0	0	0	1	0	0	0	11654	942	33	3	383	3	PDE8B	5	76607856	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		76607856	104307404	4	264											
RASGRF2	5924	broad.mit.edu	37	5	80408455	80408455	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr5:80408455A>G	ENST00000265080.4	+	14	1932	c.1865A>G	c.(1864-1866)gAc>gGc	p.D622G	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	622					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)		CATAAAGACGACACTGACATT	0.522																																						ENST00000265080.4											0			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						c.(1864-1866)gAc>gGc	Ras protein-specific guanine nucleotide-releasing factor 2						138	135	136					5																	80408455		2203	4300	6503	SO:0001583	missense	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.chr5:80408455A>G	AF023130	AF023130	CCDS4052.1	CCDS4052.1	5q13	2013-01-10			2013-01-10			ENSG00000113319	ENSG00000113319	ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	9876	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606614	606614								Standard	Standard	NM_006909	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	uc003kha.2	O14827	O14827	OTTHUMG00000119015	OTTHUMG00000119015	ENST00000265080.4:c.1865A>G	5.37:g.80408455A>G	ENSP00000265080:p.Asp622Gly			p.D622G	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	1932	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	622		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1865A>G	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954401	0.73902	.	.	ENSG00000113319	ENST00000265080	T	0.49139	0.79	5.79	5.79	0.91817	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	M	0.81497	2.545	0.80722	D	1	P	0.38335	0.627	B	0.37144	0.242	T	0.62011	-0.6944	10	0.87932	D	0	.	15.8351	0.78791	1.0:0.0:0.0:0.0	.	622	O14827	RGRF2_HUMAN	G	622	ENSP00000265080:D622G	ENSP00000265080:D622G	D	+	2	0	0	RASGRF2	80444211	80444211	1.000000	0.71417	0.935000	0.37517	0.913000	0.54294	6.285000	0.72658	2.221000	0.72209	0.456000	0.33151	GAC		0.522	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2		124.370589	-7	-7	104	104	NM_006909		40	124.530519	124.530519	48	0.454545	0	0	0	1	0	40	48	0.454545	G	80408455	A	G	80408455	3	3	15	1	0	0	0	0	1	0	0	0	13073	275	10	4	1919	4	RASGRF2	5	80408455	Missense_Mutation	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08	3800599	80408455	100506805	5	265											
ZSCAN16	80345	broad.mit.edu	37	6	28093443	28093443	+	Silent	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr6:28093443C>T	ENST00000340487.4	+	2	371	c.222C>T	c.(220-222)tgC>tgT	p.C74C	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCCAGAATGCCACACCAAGG	0.547																																						ENST00000340487.4											0			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(220-222)tgC>tgT	zinc finger and SCAN domain containing 16						138	130	133					6																	28093443		2203	4300	6503	SO:0001819	synonymous_variant	80345			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28093443C>T	AK025844	AK025844	CCDS4644.1	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812	ENSG00000196812	ENSG00000196812		"-", "Zinc fingers, C2H2-type"	"-", "Zinc fingers, C2H2-type"	20813	20813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435	"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435				Standard	Standard	NM_025231	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	uc003nkm.3	Q9H4T2	Q9H4T2	OTTHUMG00000014509	OTTHUMG00000014509	ENST00000340487.4:c.222C>T	6.37:g.28093443C>T			ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	p.C74C	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			2	371	+			74	SCAN box.	Q9H6K2	Silent	SNP	ENST00000340487.4	37	c.222C>T	CCDS4644.1																																																																																									0.547	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1		-50.482033	-1	-1	130	130	NM_025231		4	6.746815	6.746815	215	0.018265	0	0	0	1	0	4	215	0.018265	T	28093443	C	T	28093443	2	4	15	1	0	0	0	0	0	0	0	1	18226	747	26	2		2	ZSCAN16	6	28093443	Silent	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		28093443	143021624	6	266											
CSGALNACT1	55790	broad.mit.edu	37	8	19362817	19362817	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr8:19362817G>A	ENST00000454498.2	-	4	1542	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R177W	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	177					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		AACTCATCCCGCTTGTCCTTC	0.547																																						ENST00000454498.2											0			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(529-531)Cgg>Tgg	chondroitin sulfate N-acetylgalactosaminyltransferase 1						111	97	101					8																	19362817		2203	4300	6503	SO:0001583	missense	55790			anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19362817G>A	AK002126	AK002126	CCDS6010.1	CCDS6010.1	8p21.3	2013-02-19			2013-02-19				ENSG00000147408		ENSG00000147408		"Beta 4-glycosyltransferases"	"Beta 4-glycosyltransferases"	24290	24290	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"								17145758, 12446672	17145758, 12446672	Standard	Standard	NM_018371	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	uc011kyo.2	Q8TDX6	Q8TDX6			ENST00000454498.2:c.529C>T	8.37:g.19362817G>A	ENSP00000411816:p.Arg177Trp		CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R177W	p.R177W	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	4	1542	-			177		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.529C>T	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114273	0.77210	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.74	4.86	0.63082	5.74	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60999	-0.7151	10	0.87932	D	0	-43.9759	12.9637	0.58472	0.0:0.0:0.7055:0.2945	.	177	Q8TDX6	CGAT1_HUMAN	W	177	ENSP00000411816:R177W;ENSP00000330805:R177W;ENSP00000310891:R177W;ENSP00000429809:R177W;ENSP00000442155:R177W	ENSP00000310891:R177W	R	-	1	2	2	CSGALNACT1	19407097	19407097	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	3.180000	0.50895	1.548000	0.49413	-0.311000	0.09066	CGG		0.547	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1		24.028077	-6	-6	47	47	NM_018371		10	27.220817	27.220817	35	0.222222	0	0	0	1	0	10	35	0.222222	A	19362817	G	A	19362817	3	1	15	1	0	0	0	0	1	0	0	0	3938	1086	38	1	1097	1	CSGALNACT1	8	19362817	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		19362817	127001205	7	267											
PKHD1L1	93035	broad.mit.edu	37	8	110412463	110412463	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr8:110412463C>T	ENST00000378402.5	+	13	1275	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	391					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTGTTGCACGCTTTAGTGG	0.418										HNSCC(38;0.096)																												ENST00000378402.5											0			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1171-1173)Cgc>Tgc	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						358	348	351					8																	110412463		1888	4111	5999	SO:0001583	missense	93035			immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412463C>T	AY219181	AY219181	CCDS47911.1	CCDS47911.1	8q23	2003-03-28			2003-03-28			ENSG00000205038	ENSG00000205038	ENSG00000205038	ENSG00000205038				20313	20313	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607843	607843						12620974	12620974	Standard	Standard	NM_177531	NM_177531		Approved		uc003yne.3	uc003yne.3	Q86WI1	Q86WI1	OTTHUMG00000164934	OTTHUMG00000164934	ENST00000378402.5:c.1171C>T	8.37:g.110412463C>T	ENSP00000367655:p.Arg391Cys			p.R391C	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1275	+			391		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1171C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120006	0.77323	.	.	ENSG00000205038	ENST00000378402	D	0.82081	-1.57	5.32	5.32	0.75619	5.32	5.32	0.75619	PA14 (1);	0.000000	0.64402	D	0.000002	D	0.90652	0.7068	M	0.76170	2.325	0.53688	D	0.999975	D	0.89917	1.0	D	0.78314	0.991	D	0.91658	0.5340	10	0.87932	D	0	.	16.4877	0.84189	0.0:1.0:0.0:0.0	.	391	Q86WI1	PKHL1_HUMAN	C	391	ENSP00000367655:R391C	ENSP00000367655:R391C	R	+	1	0	0	PKHD1L1	110481639	110481639	1.000000	0.71417	0.988000	0.46212	0.916000	0.54674	4.079000	0.57613	2.481000	0.83766	0.563000	0.77884	CGC		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		137.828913	-37	-37	257	257	NM_177531		57	159.657101	159.657101	218	0.207273	0	0	0	1	0	57	218	0.207273	T	110412463	C	T	110412463	3	4	15	1	0	0	0	0	1	0	0	0	11972	536	19	1	1221	1	PKHD1L1	8	110412463	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	91049646	110412463	35951559	8	268											
PIP4K2A	5305	broad.mit.edu	37	10	22898574	22898574	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr10:22898574T>G	ENST00000376573.4	-	2	445	c.217A>C	c.(217-219)Aag>Cag	p.K73Q	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K14Q|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	73	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTGTCCACCTTTATTTTTGAA	0.348																																						ENST00000376573.4											0			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(217-219)Aag>Cag	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha						133	132	132					10																	22898574		2203	4300	6503	SO:0001583	missense	5305					1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22898574T>G	S78798	S78798	CCDS7141.1	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867	ENSG00000150867	ENSG00000150867				8997	8997	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603140	603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	7852364, 9367159	Standard	Standard	NM_005028	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	uc001irl.4	P48426	P48426	OTTHUMG00000017810	OTTHUMG00000017810	ENST00000376573.4:c.217A>C	10.37:g.22898574T>G	ENSP00000365757:p.Lys73Gln		PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K14Q|PIP4K2A_ENST00000422321.1_5'UTR	p.K73Q	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			2	445	-			73	PIPK.	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.217A>C	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731184	0.89390	.	.	ENSG00000150867	ENST00000376573;ENST00000545335;ENST00000422321;ENST00000376565;ENST00000432610	T;T	0.30981	1.68;1.51	5.82	5.82	0.92795	5.82	5.82	0.92795	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.78049	2.395	0.80722	D	1	D	0.65815	0.995	D	0.64595	0.927	T	0.52328	-0.8590	10	0.27785	T	0.31	-35.4238	16.1966	0.82029	0.0:0.0:0.0:1.0	.	73	P48426	PI42A_HUMAN	Q	73;14;25;32;25	ENSP00000365757:K73Q;ENSP00000442098:K14Q	ENSP00000365749:K32Q	K	-	1	0	0	PIP4K2A	22938580	22938580	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.232000	0.73038	0.528000	0.53228	AAG		0.348	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1		117.056789	-2	-2	63	63	NM_005028		34	117.183216	117.183216	28	0.548387	0	0	0	1	0	34	28	0.548387	G	22898574	T	G	22898574	3	3	15	1	0	0	0	0	1	0	0	0	11936	1850	64	5	1039	5	PIP4K2A	10	22898574	Missense_Mutation	SNP	T	TCGA-V4-A9EJ-01A-11D-A39W-08		22898574	112636173	9	269											
MUC2	4583	broad.mit.edu	37	11	1101116	1101116	+	Silent	SNP	C	C	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:1101116C>A	ENST00000441003.2	+	41	7542	c.7515C>A	c.(7513-7515)acC>acA	p.T2505T		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4867					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AAGACGGCACCTACCTCGCCA	0.612																																						ENST00000441003.2											0			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(7513-7515)acC>acA	mucin 2, oligomeric mucus/gel-forming						88	98	95					11																	1101116		2118	4230	6348	SO:0001819	synonymous_variant	4583				inner mucus layer|outer mucus layer	protein binding	g.chr11:1101116C>A	L21998	L21998			11p15.5	2011-01-28	2006-03-14		2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	ENSG00000198788	ENSG00000198788		"Mucins"	"Mucins"	7512	7512	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			158370	158370	"mucin 2, intestinal/tracheal"		"mucin 2, intestinal/tracheal"			15081123	15081123	Standard	Standard	NM_002457	NM_002457		Approved		uc001lsx.1	uc001lsx.1	Q02817	Q02817	OTTHUMG00000156800	OTTHUMG00000156800	ENST00000441003.2:c.7515C>A	11.37:g.1101116C>A				p.T2505T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	41	7542	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4867		Q14878	Silent	SNP	ENST00000441003.2	37	c.7515C>A																																																																																										0.612	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		45.984601	4	4	78	78	NM_002457		16	47.291799	47.291799	33	0.326531	1	0	3.45872e-05	1	3.63609e-05	16	33	0.326531	A	1101116	C	A	1101116	2	1	15	1	0	0	0	0	0	0	0	1	9975	668	24	5		5	MUC2	11	1101116	Silent	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		1101116	133905400	10	270											
TRPM5	29850	broad.mit.edu	37	11	2443545	2443545	+	Missense_Mutation	SNP	G	G	A	rs370751309		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:2443545G>A	ENST00000155858.6	-	2	132	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	TRPM5_ENST00000533060.1_Missense_Mutation_p.R42W|TRPM5_ENST00000528453.1_Missense_Mutation_p.R42W|TRPM5_ENST00000452833.1_Missense_Mutation_p.R42W	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCGGCACCCGTACAAACTGC	0.672																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1											0			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(124-126)Cgg>Tgg	transient receptor potential cation channel, subfamily M, member 5		TRP/ARG	1,4397	2.1+/-5.4	0,1,2198	34	38	37		124	1.5	1	11		37	0,8594		0,0,4297	no	missense	TRPM5	NM_014555.3	101	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	42/1166	2443545	1,12991	2199	4297	6496	SO:0001583	missense	29850				integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2443545G>A	AF177473	AF177473	CCDS31340.1	CCDS31340.1	11p15.5	2011-12-14			2011-12-14			ENSG00000070985	ENSG00000070985	ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	14323	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604600	604600						10607831, 16382100	10607831, 16382100	Standard	Standard	NM_014555	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	uc001lwm.4	Q9NZQ8	Q9NZQ8	OTTHUMG00000009896	OTTHUMG00000009896	ENST00000155858.6:c.124C>T	11.37:g.2443545G>A	ENSP00000155858:p.Arg42Trp		TRPM5_ENST00000155858.6_Missense_Mutation_p.R42W|TRPM5_ENST00000533060.1_Missense_Mutation_p.R42W|TRPM5_ENST00000528453.1_Missense_Mutation_p.R42W	p.R42W			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	132	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	42			Missense_Mutation	SNP	ENST00000155858.6	37	c.124C>T	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	g	11.23	1.578777	0.28180	2.27E-4	0.0	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47	2.64	1.47	0.22746	2.64	1.47	0.22746	.	0.292311	0.27068	U	0.021099	T	0.19485	0.0468	M	0.78456	2.415	0.26968	N	0.965643	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.992;0.996	T	0.02042	-1.1224	10	0.87932	D	0	-11.9708	5.8348	0.18601	0.0:0.0:0.2851:0.7149	.	42;42;42	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	W	34;42;42;42;42;42	ENSP00000434383:R34W;ENSP00000155858:R42W;ENSP00000387965:R42W;ENSP00000434121:R42W;ENSP00000436809:R42W	ENSP00000155858:R42W	R	-	1	2	2	TRPM5	2400121	2400121	0.026000	0.19158	0.999000	0.59377	0.041000	0.13682	0.646000	0.24797	0.440000	0.26502	-0.373000	0.07131	CGG		0.672	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1		-0.505829	5	5	46	46	NM_014555		3	6.377063	6.377063	35	0.078947	0	0	0	1	0	3	35	0.078947	A	2443545	G	A	2443545	3	1	15	1	0	0	0	0	1	0	0	0	16586	1144	40	1	3465	1	TRPM5	11	2443545	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08	1342429	2443545	132562971	11	271											
DAK	26007	broad.mit.edu	37	11	61110817	61110817	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:61110817G>A	ENST00000394900.3	+	11	1098	c.869G>A	c.(868-870)gGc>gAc	p.G290D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	290	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						ATTGCAGAGGGCCGCGGGGTG	0.562																																						ENST00000394900.3											0			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(868-870)gGc>gAc	dihydroxyacetone kinase 2 homolog (S. cerevisiae)						95	97	96					11																	61110817		2203	4299	6502	SO:0001583	missense	26007			glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61110817G>A			CCDS8003.1	CCDS8003.1	11q12.2	2009-11-06	2006-04-04		2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476	ENSG00000149476	ENSG00000149476				24552	24552	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615844	615844	"dihydroxyacetone kinase 2 homolog (yeast)"		"dihydroxyacetone kinase 2 homolog (yeast)"					Standard	Standard	XM_005273898	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	uc001nre.3	Q3LXA3	Q3LXA3	OTTHUMG00000168076	OTTHUMG00000168076	ENST00000394900.3:c.869G>A	11.37:g.61110817G>A	ENSP00000378360:p.Gly290Asp			p.G290D	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			11	1098	+			290	DhaK.	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.869G>A	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.373007	0.05034	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.26660	1.72;1.72	5.64	1.3	0.21679	5.64	1.3	0.21679	Dak kinase (2);	0.579973	0.18568	N	0.137409	T	0.09202	0.0227	N	0.02736	-0.51	0.35346	D	0.786881	B;B	0.14012	0.009;0.006	B;B	0.18871	0.008;0.023	T	0.29274	-1.0017	10	0.12430	T	0.62	-4.6794	9.0984	0.36653	0.18:0.3692:0.4508:0.0	.	290;290	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	D	290;289	ENSP00000378360:G290D;ENSP00000432539:G289D	ENSP00000378360:G290D	G	+	2	0	0	DAK	60867393	60867393	0.374000	0.25081	0.997000	0.53966	0.202000	0.24057	0.562000	0.23531	0.285000	0.22329	-0.379000	0.06801	GGC		0.562	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4		156.246569	-27	-27	116	116	NM_015533		50	156.279863	156.279863	54	0.480769	0	0	0	1	0	50	54	0.480769	A	61110817	G	A	61110817	3	1	15	1	0	0	0	0	1	0	0	0	4228	1203	42	2	907	2	DAK	11	61110817	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08	58667272	61110817	73895699	12	272											
PHLDB1	23187	broad.mit.edu	37	11	118499187	118499187	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:118499187G>A	ENST00000361417.2	+	7	2059	c.1648G>A	c.(1648-1650)Gct>Act	p.A550T	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A550T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	550										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTACTGGGGCTTCACCCTG	0.612																																						ENST00000361417.2											0			breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1648-1650)Gct>Act	pleckstrin homology-like domain, family B, member 1						17	18	18					11																	118499187		2199	4293	6492	SO:0001583	missense	23187						g.chr11:118499187G>A			CCDS8401.1, CCDS44750.1	CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			2013-01-10			ENSG00000019144	ENSG00000019144	ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	23697	23697	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612834	612834						14532993	14532993	Standard	Standard	NM_015157	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	uc001pts.3	Q86UU1	Q86UU1	OTTHUMG00000166341	OTTHUMG00000166341	ENST00000361417.2:c.1648G>A	11.37:g.118499187G>A	ENSP00000354498:p.Ala550Thr		PHLDB1_ENST00000356063.5_Missense_Mutation_p.A550T	p.A550T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	2059	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	550		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1648G>A	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563734	0.65651	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.33438	1.42;1.41	5.7	2.59	0.31030	5.7	2.59	0.31030	.	0.615585	0.17599	N	0.168461	T	0.22085	0.0532	L	0.40543	1.245	0.80722	D	1	P;P;P	0.48764	0.905;0.458;0.915	B;B;B	0.42522	0.39;0.137;0.366	T	0.03555	-1.1025	10	0.19590	T	0.45	-4.2622	7.1759	0.25744	0.1632:0.4249:0.412:0.0	.	550;550;550	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	T	550;309;550	ENSP00000354498:A550T;ENSP00000348359:A550T	ENSP00000348359:A550T	A	+	1	0	0	PHLDB1	118004397	118004397	0.999000	0.42202	0.993000	0.49108	0.912000	0.54170	1.169000	0.31871	0.726000	0.32339	0.655000	0.94253	GCT		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		15.172059	8	8	22	22	NM_015157		5	15.323764	15.323764	8	0.384615	0	0	0	1	0	5	8	0.384615	A	118499187	G	A	118499187	3	1	15	1	0	0	0	0	1	0	0	0	11851	1203	42	2	1666	2	PHLDB1	11	118499187	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08	57388370	118499187	16507329	13	273	3	2									
PHLDB1	23187	broad.mit.edu	37	11	118499188	118499188	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:118499188C>T	ENST00000361417.2	+	7	2060	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A550V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	550										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTTACTGGGGCTTCACCCTGC	0.612																																						ENST00000361417.2											0			breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1648-1650)gCt>gTt	pleckstrin homology-like domain, family B, member 1						17	19	18					11																	118499188		2199	4292	6491	SO:0001583	missense	23187						g.chr11:118499188C>T			CCDS8401.1, CCDS44750.1	CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			2013-01-10			ENSG00000019144	ENSG00000019144	ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	23697	23697	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612834	612834						14532993	14532993	Standard	Standard	NM_015157	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	uc001pts.3	Q86UU1	Q86UU1	OTTHUMG00000166341	OTTHUMG00000166341	ENST00000361417.2:c.1649C>T	11.37:g.118499188C>T	ENSP00000354498:p.Ala550Val		PHLDB1_ENST00000356063.5_Missense_Mutation_p.A550V	p.A550V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	2060	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	550		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.1649C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320603	0.60634	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.33216	1.43;1.42	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.615585	0.17599	N	0.168461	T	0.31358	0.0794	L	0.29908	0.895	0.80722	D	1	P;B;D	0.59357	0.473;0.138;0.985	B;B;P	0.47528	0.135;0.037;0.549	T	0.02546	-1.1143	10	0.15499	T	0.54	-4.2622	19.8471	0.96713	0.0:1.0:0.0:0.0	.	550;550;550	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	V	550;309;550	ENSP00000354498:A550V;ENSP00000348359:A550V	ENSP00000348359:A550V	A	+	2	0	0	PHLDB1	118004398	118004398	1.000000	0.71417	0.985000	0.45067	0.486000	0.33341	5.683000	0.68189	2.688000	0.91661	0.655000	0.94253	GCT		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		14.972293	5	5	22	22	NM_015157		5	15.123902	15.123902	8	0.384615	0	0	0	1	0	5	8	0.384615	T	118499188	C	T	118499188	3	4	15	1	0	0	0	0	1	0	0	0	11851	797	28	2	1667	2	PHLDB1	11	118499188	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	1	118499188	16507328	14	274	3	2									
ACSM4	341392	broad.mit.edu	37	12	7477186	7477186	+	Missense_Mutation	SNP	C	C	T	rs199564292		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr12:7477186C>T	ENST00000399422.4	+	11	1576	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	510					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						AGATCAAATCCGCGGAGAGGT	0.438													C|||	1	0.000199681	0	0	5008	,	,		-128	0		0	False		,,,				2504	0.001					ENST00000399422.4											0			endometrium(6)|kidney(1)|lung(14)	21						c.(1528-1530)Cgc>Tgc	acyl-CoA synthetase medium-chain family member 4	C	CYS/ARG	1,3851		0,1,1925	99	92	94		1528	1.6	1	12		94	1,8243		0,1,4121	yes	missense	ACSM4	NM_001080454.1	180	0,2,6046	TT,TC,CC		0.0121,0.026,0.0165	probably-damaging	510/581	7477186	2,12094	1926	4122	6048	SO:0001583	missense	341392			fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7477186C>T			CCDS44825.1	CCDS44825.1	12p13.31	2008-06-12			2008-06-12			ENSG00000215009	ENSG00000215009	ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	"Acyl-CoA synthetase family"	32016	32016	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360	614360						17762044	17762044	Standard	Standard	NM_001080454	NM_001080454		Approved		uc001qsx.1	uc001qsx.1	P0C7M7	P0C7M7	OTTHUMG00000154975	OTTHUMG00000154975	ENST00000399422.4:c.1528C>T	12.37:g.7477186C>T	ENSP00000382349:p.Arg510Cys			p.R510C	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			11	1576	+			510		A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.1528C>T	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004867	0.35415	2.6E-4	1.21E-4	ENSG00000215009	ENST00000399422	T	0.59772	0.24	2.58	1.59	0.23543	2.58	1.59	0.23543	.	0.000000	0.33309	U	0.005056	T	0.76126	0.3944	M	0.91354	3.2	0.48341	D	0.999634	D	0.89917	1.0	D	0.87578	0.998	T	0.75642	-0.3247	10	0.87932	D	0	-17.6681	6.9255	0.24412	0.5741:0.4259:0.0:0.0	.	510	P0C7M7	ACSM4_HUMAN	C	510	ENSP00000382349:R510C	ENSP00000382349:R510C	R	+	1	0	0	ACSM4	7368453	7368453	0.025000	0.19082	0.995000	0.50966	0.540000	0.34992	0.194000	0.17135	0.553000	0.29044	0.557000	0.71058	CGC		0.438	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2		42.152007	1	1	25	25	NM_001080454		15	43.165118	43.165118	29	0.340909	0	0	0	1	0	15	29	0.340909	T	7477186	C	T	7477186	3	4	15	1	0	0	0	0	1	0	0	0	186	652	23	1	1570	1	ACSM4	12	7477186	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		7477186	126374709	15	275											
GPR68	8111	broad.mit.edu	37	14	91701320	91701320	+	Silent	SNP	C	C	T	rs199863841		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr14:91701320C>T	ENST00000531499.2	-	2	414	c.75G>A	c.(73-75)ccG>ccA	p.P25P	GPR68_ENST00000535815.1_Silent_p.P25P|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000238699.3_Silent_p.P35P			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	25					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CATAGACCACCGGGGCCAGCG	0.607																																						ENST00000535815.1											0			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(73-75)ccG>ccA	G protein-coupled receptor 68						84	73	77					14																	91701320		2203	4300	6503	SO:0001819	synonymous_variant	0			inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91701320C>T	U48405	U48405	CCDS9894.1, CCDS9894.2	CCDS9894.1, CCDS9894.2	14q31	2012-08-21			2012-08-21				ENSG00000119714		ENSG00000119714		"GPCR / Class A : Orphans"	"GPCR / Class A : Orphans"	4519	4519	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601404	601404						8661159	8661159	Standard	Standard	NM_001177676	NM_001177676		Approved	OGR1	uc001xzg.3	uc001xzg.3	Q15743	Q15743			ENST00000531499.2:c.75G>A	14.37:g.91701320C>T			GPR68_ENST00000238699.3_Silent_p.P35P|GPR68_ENST00000531499.2_Silent_p.P25P	p.P25P	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	415	-		all_cancers(154;0.0555)	25		Q13334|Q4VBB4|Q6IX34	Silent	SNP	ENST00000531499.2	37	c.75G>A	CCDS9894.2																																																																																									0.607	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2		37.256112	-4	-4	29	29			12	37.580179	37.580179	19	0.387097	0	0	0	1	0	12	19	0.387097	T	91701320	C	T	91701320	2	4	15	1	0	0	0	0	0	0	0	1	6707	639	23	1		1	GPR68	14	91701320	Silent	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		91701320	15648220	16	276											
PLCB2	5330	broad.mit.edu	37	15	40590425	40590425	+	Splice_Site	SNP	T	T	C			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr15:40590425T>C	ENST00000260402.3	-	11	1403	c.1154A>G	c.(1153-1155)aAa>aGa	p.K385R	PLCB2_ENST00000456256.2_Splice_Site_p.K385R|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Splice_Site_p.K385R	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	385	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGGTCTCACTTTGAAGAAGAT	0.582																																						ENST00000260402.3											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(1153-1155)aAa>aGa	phospholipase C, beta 2						52	57	56					15																	40590425		2062	4230	6292	SO:0001630	splice_region_variant	5330			activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40590425T>C			CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			2012-01-23			ENSG00000137841	ENSG00000137841	ENSG00000137841	ENSG00000137841	3.1.4.11			9055	9055	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604114	604114						1644792, 9925923	1644792, 9925923	Standard	Standard	XM_005254448	XM_005254448		Approved	FLJ38135	uc001zld.3	uc001zld.3	Q00722	Q00722	OTTHUMG00000172412	OTTHUMG00000172412	ENST00000260402.3:c.1155+1A>G	15.37:g.40590425T>C			PLCB2_ENST00000456256.2_Splice_Site_p.K385R|PLCB2_ENST00000557821.1_Splice_Site_p.K385R	p.K385R	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	11	1403	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	385	PI-PLC X-box.	A8K6J2|B9EGH5	Splice_Site	SNP	ENST00000260402.3	37	c.1154A>G	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240037	0.79912	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.62788	-0.0;-0.0	5.01	5.01	0.66863	5.01	5.01	0.66863	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.049718	0.85682	D	0.000000	T	0.61022	0.2314	N	0.17474	0.49	0.80722	D	1	D;B;P	0.58970	0.984;0.086;0.752	P;B;P	0.59948	0.866;0.09;0.456	T	0.59434	-0.7455	10	0.25751	T	0.34	.	14.8848	0.70560	0.0:0.0:0.0:1.0	.	385;385;385	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	R	385	ENSP00000260402:K385R;ENSP00000411991:K385R	ENSP00000260402:K385R	K	-	2	0	0	PLCB2	38377717	38377717	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.868000	0.87116	2.118000	0.64928	0.460000	0.39030	AAA		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		42.905395	-27	-27	15	15		Missense_Mutation	12	43.194633	43.194633	7	0.631579	0	0	0	1	0	12	7	0.631579	C	40590425	T	C	40590425	5	2	15	1	0	0	0	0	0	0	1	0	12028	1855	64	4	2491	4	PLCB2	15	40590425	Splice_Site	SNP	T	TCGA-V4-A9EJ-01A-11D-A39W-08		40590425	61940967	17	277											
ARNT2	9915	broad.mit.edu	37	15	80762584	80762584	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr15:80762584C>T	ENST00000303329.4	+	4	385	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	ARNT2_ENST00000533983.1_Missense_Mutation_p.R63C|ARNT2_ENST00000527771.1_Missense_Mutation_p.R63C|ARNT2_ENST00000531595.3_3'UTR	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	74	Poly-Arg.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|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)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AATCGAAAGGCGCAGACGGAA	0.498																																						ENST00000533983.1											0			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(187-189)Cgc>Tgc	aryl-hydrocarbon receptor nuclear translocator 2						74	64	68					15																	80762584		2203	4300	6503	SO:0001583	missense	9915			central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80762584C>T	AB002305	AB002305	CCDS32307.1	CCDS32307.1	15q25.1	2013-05-21			2013-05-21			ENSG00000172379	ENSG00000172379	ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	"Basic helix-loop-helix proteins"	16876	16876	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606036	606036						11247670	11247670	Standard	Standard	NM_014862	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	uc002bfr.3	Q9HBZ2	Q9HBZ2	OTTHUMG00000165478	OTTHUMG00000165478	ENST00000303329.4:c.220C>T	15.37:g.80762584C>T	ENSP00000307479:p.Arg74Cys		ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Missense_Mutation_p.R74C|ARNT2_ENST00000527771.1_Missense_Mutation_p.R63C	p.R63C			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		5	526	+			74		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.187C>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737579	0.69304	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	D	0.98493	-4.96	5.0	4.08	0.47627	5.0	4.08	0.47627	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.98794	1.0737	10	0.56958	D	0.05	.	15.0601	0.71944	0.1427:0.8573:0.0:0.0	.	74;74	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	C	63;74;74	ENSP00000307479:R74C	ENSP00000307479:R74C	R	+	1	0	0	ARNT2	78549639	78549639	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	5.581000	0.67471	1.323000	0.45263	0.650000	0.86243	CGC		0.498	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		41.549585	-8	-8	17	17			14	41.695254	41.695254	10	0.583333	0	0	0	1	0	14	10	0.583333	T	80762584	C	T	80762584	3	4	15	1	0	0	0	0	1	0	0	0	966	768	27	1	234	1	ARNT2	15	80762584	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	40172159	80762584	21768808	18	278											
CETP	1071	broad.mit.edu	37	16	56995983	56995983	+	Missense_Mutation	SNP	G	G	A	rs147758502	byFrequency	TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr16:56995983G>A	ENST00000200676.3	+	1	222	c.92G>A	c.(91-93)cGc>cAc	p.R31H	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.R31H|CETP_ENST00000566128.1_5'Flank	NM_000078.2	NP_000069.2			cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ATCGTGTGCCGCATCACCAAG	0.612																																						ENST00000200676.3											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(91-93)cGc>cAc	cholesteryl ester transfer protein, plasma	G	HIS/ARG	0,4396		0,0,2198	72	61	65		92	3.9	0.7	16	dbSNP_134	65	3,8597	3.0+/-9.4	0,3,4297	no	missense	CETP	NM_000078.2	29	0,3,6495	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	31/494	56995983	3,12993	2198	4300	6498	SO:0001583	missense	1071			cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:56995983G>A	M30185	M30185	CCDS10772.1, CCDS67032.1	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			2012-10-02			ENSG00000087237	ENSG00000087237	ENSG00000087237	ENSG00000087237		"BPI fold containing"	"BPI fold containing"	1869	1869	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"BPI fold containing family F"	"BPI fold containing family F"	118470	118470						3600759, 2334701	3600759, 2334701	Standard	Standard	NM_000078	NM_000078		Approved	BPIFF	uc002eki.2	uc002eki.2	P11597	P11597	OTTHUMG00000133279	OTTHUMG00000133279	ENST00000200676.3:c.92G>A	16.37:g.56995983G>A	ENSP00000200676:p.Arg31His		CETP_ENST00000379780.2_Missense_Mutation_p.R31H|CETP_ENST00000569082.1_3'UTR	p.R31H	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN			1	222	+			31			Missense_Mutation	SNP	ENST00000200676.3	37	c.92G>A	CCDS10772.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846612	0.51164	0.0	3.49E-4	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.13089	2.62;2.62	3.92	3.92	0.45320	3.92	3.92	0.45320	Lipid-binding serum glycoprotein, conserved site (1);Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	U	0.000001	T	0.18718	0.0449	L	0.32530	0.975	0.80722	D	1	B;D	0.60575	0.045;0.988	B;P	0.53809	0.01;0.735	T	0.01488	-1.1342	10	0.87932	D	0	-18.5125	12.6205	0.56600	0.0:0.0:1.0:0.0	.	31;31	P11597-2;P11597	.;CETP_HUMAN	H	31	ENSP00000200676:R31H;ENSP00000369106:R31H	ENSP00000200676:R31H	R	+	2	0	0	CETP	55553484	55553484	0.993000	0.37304	0.743000	0.31040	0.232000	0.25224	2.623000	0.46435	1.686000	0.51046	0.305000	0.20034	CGC		0.612	CETP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257059.1		-0.806418	-12	-12	23	23	NM_000078		3	6.872629	6.872629	38	0.073171	0	0	0	1	0	3	38	0.073171	A	56995983	G	A	56995983	3	1	15	1	0	0	0	0	1	0	0	0	3277	1087	38	1	94	1	CETP	16	56995983	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		56995983	33358770	19	279											
FAM65A	79567	broad.mit.edu	37	16	67575406	67575406	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr16:67575406C>T	ENST00000379312.3	+	11	1008	c.887C>T	c.(886-888)gCc>gTc	p.A296V	FAM65A_ENST00000042381.4_Missense_Mutation_p.A292V|FAM65A_ENST00000422602.2_Missense_Mutation_p.A312V|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.A306V|FAM65A_ENST00000540839.3_Missense_Mutation_p.A312V	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	296						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GACCTGTTTGCCGCCCTGCCC	0.572																																						ENST00000540839.3											0			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(934-936)gCc>gTc	family with sequence similarity 65, member A						181	160	167					16																	67575406		2198	4300	6498	SO:0001583	missense	79567				cytoplasm	binding	g.chr16:67575406C>T	AK127792	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			2008-02-05			ENSG00000039523	ENSG00000039523	ENSG00000039523	ENSG00000039523				25836	25836	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11572484	11572484	Standard	Standard	NM_001193522	NM_001193522		Approved	FLJ13725	uc010vjp.2	uc010vjp.2	Q6ZS17	Q6ZS17	OTTHUMG00000137536	OTTHUMG00000137536	ENST00000379312.3:c.887C>T	16.37:g.67575406C>T	ENSP00000368614:p.Ala296Val		FAM65A_ENST00000428437.2_Missense_Mutation_p.A306V|FAM65A_ENST00000042381.4_Missense_Mutation_p.A292V|FAM65A_ENST00000422602.2_Missense_Mutation_p.A312V|FAM65A_ENST00000379312.3_Missense_Mutation_p.A296V	p.A312V			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	12	1155	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	296		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.935C>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746006	0.89663	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.02085	4.46;4.46;4.46	4.86	3.91	0.45181	4.86	3.91	0.45181	.	0.160136	0.56097	N	0.000038	T	0.04003	0.0112	L	0.58810	1.83	0.80722	D	1	P;P;P;P	0.43287	0.686;0.686;0.686;0.802	B;B;B;B	0.40940	0.173;0.173;0.173;0.344	T	0.46428	-0.9192	10	0.56958	D	0.05	-6.5751	12.9985	0.58662	0.0:0.9213:0.0:0.0787	.	306;312;296;312	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	V	296;292;312;306	ENSP00000368614:A296V;ENSP00000042381:A292V;ENSP00000400099:A312V	ENSP00000042381:A292V	A	+	2	0	0	FAM65A	66132907	66132907	1.000000	0.71417	0.494000	0.27515	0.956000	0.61745	7.474000	0.81024	1.051000	0.40369	0.561000	0.74099	GCC		0.572	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3		-33.527061	-6	-6	150	150	NM_024519		4	6.787484	6.787484	157	0.024845	0	0	0	1	0	4	157	0.024845	T	67575406	C	T	67575406	3	4	15	1	0	0	0	0	1	0	0	0	5599	739	26	2	913	2	FAM65A	16	67575406	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	10579423	67575406	22779347	20	280											
ADAMTS18	170692	broad.mit.edu	37	16	77465361	77465361	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr16:77465361T>G	ENST00000282849.5	-	3	744	c.326A>C	c.(325-327)cAc>cCc	p.H109P	RP11-449J10.1_ENST00000564358.1_RNA|ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	109					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AAGTTCTAAGTGCAGTTCCTG	0.483																																						ENST00000282849.5											0			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(325-327)cAc>cCc	ADAM metallopeptidase with thrombospondin type 1 motif, 18						155	157	157					16																	77465361		2198	4300	6498	SO:0001583	missense	170692			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77465361T>G	AJ311903	AJ311903	CCDS10926.1	CCDS10926.1	16q23	2008-07-29	2005-08-19		2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873	ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	17110	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607512	607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	11867212, 17546048	Standard	Standard	NM_199355	NM_199355		Approved		uc002ffc.4	uc002ffc.4	Q8TE60	Q8TE60	OTTHUMG00000137619	OTTHUMG00000137619	ENST00000282849.5:c.326A>C	16.37:g.77465361T>G	ENSP00000282849:p.His109Pro		ADAMTS18_ENST00000567121.1_5'UTR	p.H109P	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			3	744	-			109		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.326A>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190165	0.78789	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.06768	3.26;3.26	5.97	5.97	0.96955	5.97	5.97	0.96955	Peptidase M12B, propeptide (1);	0.054240	0.64402	D	0.000001	T	0.36580	0.0972	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.33904	-0.9850	10	0.52906	T	0.07	.	15.6194	0.76793	0.0:0.0:0.0:1.0	.	109	Q8TE60	ATS18_HUMAN	P	109	ENSP00000282849:H109P;ENSP00000392540:H109P	ENSP00000282849:H109P	H	-	2	0	0	ADAMTS18	76022862	76022862	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.248000	0.78268	2.287000	0.76781	0.482000	0.46254	CAC		0.483	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		209.778579	-25	-25	171	171			66	209.778579	209.778579	66	0.5	0	0	0	1	0	66	66	0.5	G	77465361	T	G	77465361	3	3	15	1	0	0	0	0	1	0	0	0	263	1696	59	5	3423	5	ADAMTS18	16	77465361	Missense_Mutation	SNP	T	TCGA-V4-A9EJ-01A-11D-A39W-08	9889955	77465361	12889392	21	281											
LSMD1	84316	broad.mit.edu	37	17	7760097	7760097	+	Silent	SNP	A	A	G			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr17:7760097A>G	ENST00000335155.5	-	3	329	c.330T>C	c.(328-330)gtT>gtC	p.V110V	LSMD1_ENST00000576861.1_Silent_p.V84V|LSMD1_ENST00000570555.1_5'Flank|LSMD1_ENST00000575071.1_Silent_p.V68V|CYB5D1_ENST00000571846.1_5'Flank|CYB5D1_ENST00000570446.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000575208.1_Silent_p.V58V|LSMD1_ENST00000575771.1_Silent_p.V58V|LSMD1_ENST00000576384.1_Silent_p.V68V|LSMD1_ENST00000333775.5_Silent_p.V158V			Q9BRA0	LSMD1_HUMAN		110					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				CCTCAATGGAAACGATGTGGT	0.562											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)	ENST00000333775.5											0			endometrium(1)|lung(2)|ovary(1)	4						c.(472-474)gtT>gtC	LSM domain containing 1						106	104	105					17																	7760097		2203	4300	6503	SO:0001819	synonymous_variant	84316				cytoplasm|nucleus		g.chr17:7760097A>G																																																	ENST00000335155.5:c.330T>C	17.37:g.7760097A>G		644	LSMD1_ENST00000576384.1_Silent_p.V68V|LSMD1_ENST00000576861.1_Silent_p.V84V|LSMD1_ENST00000335155.5_Silent_p.V110V|LSMD1_ENST00000575208.1_Silent_p.V58V|LSMD1_ENST00000575071.1_Silent_p.V68V|LSMD1_ENST00000575771.1_Silent_p.V58V	p.V158V	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN			2	904	-		all_cancers(10;0.11)|Prostate(122;0.219)	110		Q8N4M0	Silent	SNP	ENST00000335155.5	37	c.474T>C																																																																																										0.562	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			59.236646	-32	-32	67	67			19	60.269502	60.269502	35	0.351852	0	0	0	1	0	19	35	0.351852	G	7760097	A	G	7760097	2	3	15	1	0	0	0	0	0	0	0	1	9062	1	1	4		4	LSMD1	17	7760097	Silent	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08		7760097	73435113	22	282											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		74.598332	-11	-11	70	70	NM_002067		24	74.598332	74.598332	24	0.5	0	0	0	1	0	24	24	0.5	T	3118942	A	T	3118942	3	4	15	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08		3118942	56010041	23	283											
TNFSF14	8740	broad.mit.edu	37	19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T	rs202048657		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr19:6665011C>T	ENST00000599359.1	-	5	1030	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	TNFSF14_ENST00000326176.9_Missense_Mutation_p.V181I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	217					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCACACGGACGACCACCTTC	0.622													C|||	1	0.000199681	0	0	5008	,	,		17279	0.001		0	False		,,,				2504	0					ENST00000326176.9											0			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(541-543)Gtc>Atc	tumor necrosis factor (ligand) superfamily, member 14						158	129	139					19																	6665011		2203	4300	6503	SO:0001583	missense	0			cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665011C>T	AF036581	AF036581	CCDS12171.1, CCDS45939.1	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05			2008-02-05				ENSG00000125735		ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	11930	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604520	604520						9462508	9462508	Standard	Standard	NM_172014	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	uc002mfk.2	O43557	O43557			ENST00000599359.1:c.649G>A	19.37:g.6665011C>T	ENSP00000469049:p.Val217Ile		TNFSF14_ENST00000599359.1_Missense_Mutation_p.V217I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I	p.V181I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	922	-			217		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.541G>A	CCDS12171.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.89	2.373441	0.42105	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.37411	1.2	4.46	3.42	0.39159	4.46	3.42	0.39159	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.083570	0.47093	D	0.000244	T	0.31327	0.0793	L	0.46741	1.465	0.32364	N	0.556802	P;P	0.50943	0.94;0.861	B;B	0.42361	0.385;0.095	T	0.49143	-0.8970	10	0.51188	T	0.08	-2.5432	10.7358	0.46124	0.0:0.9045:0.0:0.0955	.	217;181	O43557;O43557-2	TNF14_HUMAN;.	I	217;181	ENSP00000326940:V181I	ENSP00000245912:V217I	V	-	1	0	0	TNFSF14	6616011	6616011	0.991000	0.36638	0.620000	0.29132	0.457000	0.32468	3.191000	0.50981	2.038000	0.60285	0.561000	0.74099	GTC		0.622	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1		54.770532	-13	-13	63	63			20	56.916885	56.916885	45	0.307692	0	0	0	1	0	20	45	0.307692	T	6665011	C	T	6665011	3	4	15	1	0	0	0	0	1	0	0	0	16304	536	19	1	77	1	TNFSF14	19	6665011	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	3546069	6665011	52463972	24	284											
ZNF599	148103	broad.mit.edu	37	19	35250775	35250775	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr19:35250775A>C	ENST00000329285.8	-	4	1304	c.931T>G	c.(931-933)Ttt>Gtt	p.F311V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTGCATAAAAAGGGTTTTTCT	0.418																																						ENST00000329285.8											0			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(931-933)Ttt>Gtt	zinc finger protein 599						95	105	102					19																	35250775		2203	4300	6503	SO:0001583	missense	148103			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250775A>C	AK055225	AK055225	CCDS32991.1	CCDS32991.1	19q13.13	2013-01-08			2013-01-08				ENSG00000153896		ENSG00000153896		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	26408	26408	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001007248	NM_001007248		Approved	FLJ30663	uc010edn.1	uc010edn.1	Q96NL3	Q96NL3			ENST00000329285.8:c.931T>G	19.37:g.35250775A>C	ENSP00000333802:p.Phe311Val			p.F311V	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1304	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)				Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.931T>G	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081222	0.36758	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.22945	1.93	2.36	2.36	0.29203	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35856	0.0946	M	0.87381	2.88	0.33808	D	0.627488	P	0.47841	0.901	B	0.44224	0.444	T	0.59231	-0.7493	9	0.87932	D	0	.	8.5684	0.33554	1.0:0.0:0.0:0.0	.	311	Q96NL3	ZN599_HUMAN	V	310;311	ENSP00000333802:F311V	ENSP00000333802:F311V	F	-	1	0	0	ZNF599	39942615	39942615	0.481000	0.25941	0.988000	0.46212	0.977000	0.68977	5.349000	0.66010	1.336000	0.45506	0.402000	0.26972	TTT		0.418	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2		86.753174	-31	-31	88	88	XM_086046		29	88.190786	88.190786	52	0.358025	0	0	0	1	0	29	52	0.358025	C	35250775	A	C	35250775	3	2	15	1	0	0	0	0	1	0	0	0	18026	72	3	5	839	5	ZNF599	19	35250775	Missense_Mutation	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08	28585764	35250775	23878208	25	285											
GPR112	139378	broad.mit.edu	37	X	135469898	135469898	+	Splice_Site	SNP	G	G	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chrX:135469898G>T	ENST00000394143.1	+	16	8067		c.e16-1		GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Splice_Site|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000412101.1_Splice_Site	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112						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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTCTTGGCAGATTTTCCTAG	0.443																																						ENST00000394143.1											0			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.e16-1	G protein-coupled receptor 112						179	154	163					X																	135469898		2203	4300	6503	SO:0001630	splice_region_variant	139378			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135469898G>T	AY140954	AY140954	CCDS35409.1	CCDS35409.1	Xq26.3	2014-08-08			2014-08-08			ENSG00000156920	ENSG00000156920	ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	"-", "GPCR / Class B : Orphans"	18992	18992	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12435584	12435584	Standard	Standard	XM_005262367	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	uc004ezu.1	Q8IZF6	Q8IZF6	OTTHUMG00000022508	OTTHUMG00000022508	ENST00000394143.1:c.7777-1G>T	X.37:g.135469898G>T			GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Splice_Site|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000412101.1_Splice_Site		NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			16	8067	+	Acute lymphoblastic leukemia(192;0.000127)				A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Splice_Site	SNP	ENST00000394143.1	37		CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399821	0.25291	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	.	.	.	5.36	5.36	0.76844	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0371	0.86479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	GPR112	135297564	135297564	1.000000	0.71417	0.795000	0.32087	0.016000	0.09150	5.564000	0.67359	2.375000	0.81037	0.600000	0.82982	.		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		132.662149	-91	-91	76	76		Intron	38	137.468963	137.468963	2	0.95	1	0	1.62957e-23	1	1.75822e-23	38	2	0.95	T	135469898	G	T	135469898	5	4	15	1	0	0	0	0	0	0	1	0	6629	956	33	5	7826	5	GPR112	23	135469898	Splice_Site	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		135469898	19800662	26	286											
AADACL4	343066	broad.mit.edu	37	1	12711307	12711307	+	Missense_Mutation	SNP	C	C	T	rs559695381		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr1:12711307C>T	ENST00000376221.1	+	2	334	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	112						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTCCAGACCCCGGCGAGGCAT	0.572																																						ENST00000376221.1											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(334-336)Cgg>Tgg	arylacetamide deacetylase-like 4						57	57	57					1																	12711307		2203	4300	6503	SO:0001583	missense	343066				integral to membrane	carboxylesterase activity	g.chr1:12711307C>T			CCDS30590.1	CCDS30590.1	1p36.21	2010-12-14			2010-12-14			ENSG00000204518	ENSG00000204518	ENSG00000204518	ENSG00000204518				32038	32038	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_006710608	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	uc001auf.3	Q5VUY2	Q5VUY2	OTTHUMG00000001889	OTTHUMG00000001889	ENST00000376221.1:c.334C>T	1.37:g.12711307C>T	ENSP00000365395:p.Arg112Trp			p.R112W	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	2	334	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	112			Missense_Mutation	SNP	ENST00000376221.1	37	c.334C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152062	0.38021	.	.	ENSG00000204518	ENST00000376221	T	0.60040	0.22	4.9	1.84	0.25277	4.9	1.84	0.25277	.	0.076451	0.49916	U	0.000138	T	0.49253	0.1546	M	0.75085	2.285	0.09310	N	1	D	0.53619	0.961	B	0.40038	0.317	T	0.49283	-0.8956	10	0.48119	T	0.1	-18.1748	4.5334	0.12017	0.2898:0.5378:0.0:0.1725	.	112	Q5VUY2	ADCL4_HUMAN	W	112	ENSP00000365395:R112W	ENSP00000365395:R112W	R	+	1	2	2	AADACL4	12633894	12633894	0.000000	0.05858	0.005000	0.12908	0.917000	0.54804	-2.711000	0.00817	0.468000	0.27243	0.462000	0.41574	CGG		0.572	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1		42.140314	5	5	83	83	NM_001013630		14	42.822819	42.822819	25	0.358974	0	0	0	1	0	14	25	0.358974	T	12711307	C	T	12711307	3	4	16	1	0	0	0	0	1	0	0	0	13	643	23	1	340	1	AADACL4	1	12711307	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08		12711307	236539314	1	287											
RPTN	126638	broad.mit.edu	37	1	152128319	152128319	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr1:152128319T>C	ENST00000316073.3	-	3	1320	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	419	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTTGTCGGTCCATCTGACT	0.512																																						ENST00000316073.3											0			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1255-1257)gAc>gGc	repetin						791	684	716					1																	152128319		1568	3582	5150	SO:0001583	missense	126638				proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128319T>C	AK096436	AK096436	CCDS41397.1	CCDS41397.1	1q21.3	2013-01-10			2013-01-10			ENSG00000215853	ENSG00000215853	ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	"EF-hand domain containing"	26809	26809	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613259	613259						15854042	15854042	Standard	Standard	NM_001122965	NM_001122965		Approved	FLJ39117	uc001ezs.1	uc001ezs.1	Q6XPR3	Q6XPR3	OTTHUMG00000154095	OTTHUMG00000154095	ENST00000316073.3:c.1256A>G	1.37:g.152128319T>C	ENSP00000317895:p.Asp419Gly			p.D419G	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1320	-			419	Gln-rich.	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1256A>G	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	T	5.949	0.359144	0.11239	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.11063	2.81	4.12	-1.3	0.09259	4.12	-1.3	0.09259	.	.	.	.	.	T	0.01835	0.0058	L	0.52759	1.655	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	9	0.05721	T	0.95	.	4.3432	0.11120	0.0:0.2252:0.3305:0.4443	.	419	Q6XPR3	RPTN_HUMAN	G	419;74	ENSP00000317895:D419G	ENSP00000317895:D419G	D	-	2	0	0	RPTN	150394943	150394943	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.099000	0.15210	-0.129000	0.11620	0.323000	0.21402	GAC		0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1		-100.123849	0	0	776	776	XM_371312		4	6.359135	6.359135	382	0.010363	0	0	0	1	0	4	382	0.010363	C	152128319	T	C	152128319	3	2	16	1	0	0	0	0	1	0	0	0	13664	1667	58	4	1102	4	RPTN	1	152128319	Missense_Mutation	SNP	T	TCGA-V4-A9EK-01A-11D-A39W-08	139417012	152128319	97122302	2	288											
USP34	9736	broad.mit.edu	37	2	61433951	61433951	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:61433951A>G	ENST00000398571.2	-	71	9066	c.8990T>C	c.(8989-8991)cTt>cCt	p.L2997P	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2997					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TATTGACAGAAGTTCTACTAA	0.358																																						ENST00000398571.2											0			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(8989-8991)cTt>cCt	ubiquitin specific peptidase 34						74	70	71					2																	61433951		1858	4102	5960	SO:0001583	missense	9736			positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61433951A>G	AB011142	AB011142	CCDS42686.1	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464	ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	"Ubiquitin-specific peptidases"	20066	20066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615295	615295	"ubiquitin specific protease 34"		"ubiquitin specific protease 34"			12838346	12838346	Standard	Standard	NM_014709	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	uc002sbe.3	Q70CQ2	Q70CQ2	OTTHUMG00000152265	OTTHUMG00000152265	ENST00000398571.2:c.8990T>C	2.37:g.61433951A>G	ENSP00000381577:p.Leu2997Pro			p.L2997P	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		71	9066	-			2997		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8990T>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813613	0.90790	.	.	ENSG00000115464	ENST00000263989;ENST00000398571	T	0.29142	1.58	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45816	0.1361	L	0.55481	1.735	0.80722	D	1	D	0.58970	0.984	P	0.55161	0.77	T	0.43343	-0.9397	10	0.87932	D	0	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	2997	Q70CQ2	UBP34_HUMAN	P	2845;2997	ENSP00000381577:L2997P	ENSP00000263989:L2845P	L	-	2	0	0	USP34	61287455	61287455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.225000	0.72522	0.460000	0.39030	CTT		0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		22.084617	-8	-8	46	46			8	23.902432	23.902432	24	0.25	0	0	0	1	0	8	24	0.25	G	61433951	A	G	61433951	3	3	16	1	0	0	0	0	1	0	0	0	17062	72	3	4	1690	4	USP34	2	61433951	Missense_Mutation	SNP	A	TCGA-V4-A9EK-01A-11D-A39W-08		61433951	181765422	3	289											
ANKAR	150709	hgsc.bcm.edu	37	2	190569760	190569760	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:190569760C>G	ENST00000520309.1	+	8	1808	c.1720C>G	c.(1720-1722)Cta>Gta	p.L574V	ANKAR_ENST00000438402.2_Missense_Mutation_p.L574V|ANKAR_ENST00000281412.6_Missense_Mutation_p.L338V|ANKAR_ENST00000431575.2_Missense_Mutation_p.L503V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L574V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	574						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCCAACACCTCTACACCTTGC	0.428																																																	0																	146	119	128					2																	190569760		2203	4300	6503	SO:0001583	missense	150709							AJ549812	AJ549812	CCDS33351.1, CCDS33351.2	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			2013-02-14			ENSG00000151687	ENSG00000151687	ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	26350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609803	609803						15110750	15110750	Standard	Standard	NM_144708	NM_144708		Approved	FLJ25415	uc002uqw.2	uc002uqw.2	Q7Z5J8	Q7Z5J8	OTTHUMG00000154398	OTTHUMG00000154398	ENST00000520309.1:c.1720C>G	2.37:g.190569760C>G	ENSP00000427882:p.Leu574Val																	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37		CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035782	0.54896	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.63	3.84	0.44239	5.63	3.84	0.44239	.	0.167527	0.28549	N	0.014944	T	0.81912	0.4923	M	0.93106	3.38	0.09310	N	0.999995	.	.	.	.	.	.	T	0.74833	-0.3530	8	0.59425	D	0.04	-11.0285	7.8037	0.29189	0.0:0.6885:0.0:0.3115	.	.	.	.	V	574;574;574;503;338	ENSP00000427882:L574V;ENSP00000313513:L574V;ENSP00000397243:L574V;ENSP00000393043:L503V;ENSP00000281412:L338V	ENSP00000281412:L338V	L	+	1	2	2	ANKAR	190278005	190278005	0.350000	0.24878	0.945000	0.38365	0.925000	0.55904	0.109000	0.15417	0.742000	0.32697	0.561000	0.74099	CTA		0.428	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3			43	43	136	136	NM_144708		6			142							6	142		G	190569760	C	G	190569760	3	3	16	1	0	0	0	0	1	0	0	0	623	912	32	5	1746	5	ANKAR	2	190569760	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08	129135809	190569760	52629613	4	290	4	2	1	2		3	2	56	N	C	3.197957e-05
ANKAR	150709	hgsc.bcm.edu	37	2	190569770	190569770	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:190569770C>A	ENST00000520309.1	+	8	1818	c.1730C>A	c.(1729-1731)gCt>gAt	p.A577D	ANKAR_ENST00000438402.2_Missense_Mutation_p.A577D|ANKAR_ENST00000281412.6_Missense_Mutation_p.A341D|ANKAR_ENST00000431575.2_Missense_Mutation_p.A506D|ANKAR_ENST00000313581.4_Missense_Mutation_p.A577D	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	577						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACACCTTGCTGCACAGGCT	0.418																																																	0																	147	121	130					2																	190569770		2203	4300	6503	SO:0001583	missense	150709							AJ549812	AJ549812	CCDS33351.1, CCDS33351.2	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			2013-02-14			ENSG00000151687	ENSG00000151687	ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	26350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609803	609803						15110750	15110750	Standard	Standard	NM_144708	NM_144708		Approved	FLJ25415	uc002uqw.2	uc002uqw.2	Q7Z5J8	Q7Z5J8	OTTHUMG00000154398	OTTHUMG00000154398	ENST00000520309.1:c.1730C>A	2.37:g.190569770C>A	ENSP00000427882:p.Ala577Asp																	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37		CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153498	0.78114	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.63	4.76	0.60689	5.63	4.76	0.60689	.	0.243608	0.29185	N	0.012898	D	0.91297	0.7256	H	0.98664	4.295	0.47511	D	0.999441	.	.	.	.	.	.	D	0.93985	0.7261	8	0.87932	D	0	-8.3898	13.6348	0.62217	0.0:0.9242:0.0:0.0758	.	.	.	.	D	577;577;577;506;341	ENSP00000427882:A577D;ENSP00000313513:A577D;ENSP00000397243:A577D;ENSP00000393043:A506D;ENSP00000281412:A341D	ENSP00000281412:A341D	A	+	2	0	0	ANKAR	190278015	190278015	1.000000	0.71417	0.993000	0.49108	0.832000	0.47134	5.325000	0.65869	1.381000	0.46364	0.561000	0.74099	GCT		0.418	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3			28	28	137	137	NM_144708		8			148							8	148		A	190569770	C	A	190569770	3	1	16	1	0	0	0	0	1	0	0	0	623	797	28	5	1756	5	ANKAR	2	190569770	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08	10	190569770	52629603	5	291	4	2	1	2		3	2	56	N	C	3.197957e-05
ANKAR	150709	broad.mit.edu	37	2	190569815	190569815	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:190569815C>G	ENST00000520309.1	+	8	1863	c.1775C>G	c.(1774-1776)tCc>tGc	p.S592C	ANKAR_ENST00000438402.2_Missense_Mutation_p.S592C|ANKAR_ENST00000281412.6_Missense_Mutation_p.S356C|ANKAR_ENST00000431575.2_Missense_Mutation_p.S521C|ANKAR_ENST00000313581.4_Missense_Mutation_p.S592C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	592						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACTGTGTTCCAAAGCTGAT	0.433																																						ENST00000520309.1											0			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1774-1776)tCc>tGc	ankyrin and armadillo repeat containing						166	142	150					2																	190569815		2203	4300	6503	SO:0001583	missense	150709				integral to membrane	binding	g.chr2:190569815C>G	AJ549812	AJ549812	CCDS33351.1, CCDS33351.2	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			2013-02-14			ENSG00000151687	ENSG00000151687	ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	26350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609803	609803						15110750	15110750	Standard	Standard	NM_144708	NM_144708		Approved	FLJ25415	uc002uqw.2	uc002uqw.2	Q7Z5J8	Q7Z5J8	OTTHUMG00000154398	OTTHUMG00000154398	ENST00000520309.1:c.1775C>G	2.37:g.190569815C>G	ENSP00000427882:p.Ser592Cys		ANKAR_ENST00000313581.4_Missense_Mutation_p.S592C|ANKAR_ENST00000281412.6_Missense_Mutation_p.S356C|ANKAR_ENST00000431575.2_Missense_Mutation_p.S521C|ANKAR_ENST00000438402.2_Missense_Mutation_p.S592C	p.S592C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		8	1863	+			592		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1775C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	5.850	0.341047	0.11069	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.63	-0.945	0.10388	5.63	-0.945	0.10388	.	0.484707	0.19558	N	0.111382	T	0.45915	0.1366	N	0.25380	0.74	0.09310	N	0.999997	.	.	.	.	.	.	T	0.38090	-0.9677	8	0.38643	T	0.18	-5.1425	6.9316	0.24444	0.3394:0.0693:0.0:0.5912	.	.	.	.	C	592;592;592;521;356	ENSP00000427882:S592C;ENSP00000313513:S592C;ENSP00000397243:S592C;ENSP00000393043:S521C;ENSP00000281412:S356C	ENSP00000281412:S356C	S	+	2	0	0	ANKAR	190278060	190278060	0.800000	0.28916	0.675000	0.29917	0.224000	0.24922	0.735000	0.26115	0.065000	0.16485	-1.683000	0.00735	TCC		0.433	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3		-13.091415	15	15	136	136	NM_144708		7	15.866295	15.866295	129	0.051471	0	0	0	1	0	7	129	0.051471	G	190569815	C	G	190569815	3	3	16	1	0	0	0	0	1	0	0	0	623	855	30	5	1801	5	ANKAR	2	190569815	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08	45	190569815	52629558	6	292			1	2		3	2	56	N	C	3.197957e-05
SPHKAP	80309	broad.mit.edu	37	2	228881555	228881555	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:228881555C>T	ENST00000392056.3	-	7	4061	c.4015G>A	c.(4015-4017)Ggc>Agc	p.G1339S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1339S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1339						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGGAGAGCCACCAGAAACA	0.512																																						ENST00000392056.3											0			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4015-4017)Ggc>Agc	SPHK1 interactor, AKAP domain containing						100	88	92					2																	228881555		2203	4300	6503	SO:0001583	missense	80309				cytoplasm	protein binding	g.chr2:228881555C>T			CCDS33389.1, CCDS46537.1	CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			2010-08-20			ENSG00000153820	ENSG00000153820	ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	"A-kinase anchor proteins"	30619	30619	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	"sphingosine kinase type 1-interacting protein"	611646	611646						12080051, 11214970	12080051, 11214970	Standard	Standard	NM_030623	NM_030623		Approved	SKIP	uc002vpq.2	uc002vpq.2	Q2M3C7	Q2M3C7	OTTHUMG00000153584	OTTHUMG00000153584	ENST00000392056.3:c.4015G>A	2.37:g.228881555C>T	ENSP00000375909:p.Gly1339Ser		SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1339S	p.G1339S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4061	-		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)	1339		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4015G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886879	0.51908	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	5.67	4.79	0.61399	5.67	4.79	0.61399	.	0.323944	0.36703	N	0.002456	T	0.15998	0.0385	M	0.69823	2.125	0.09310	N	0.999997	B;B;B	0.32653	0.094;0.379;0.372	B;B;B	0.27076	0.024;0.03;0.076	T	0.12604	-1.0541	10	0.22706	T	0.39	.	13.5017	0.61459	0.0:0.9254:0.0:0.0746	.	370;1339;1339	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	S	1339	ENSP00000375909:G1339S;ENSP00000339886:G1339S	ENSP00000339886:G1339S	G	-	1	0	0	SPHKAP	228589799	228589799	0.612000	0.27000	0.002000	0.10522	0.014000	0.08584	2.320000	0.43797	1.401000	0.46761	0.467000	0.42956	GGC		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		46.144963	-6	-6	57	57	NM_030623		20	54.717606	54.717606	81	0.19802	0	0	0	1	0	20	81	0.19802	T	228881555	C	T	228881555	3	4	16	1	0	0	0	0	1	0	0	0	15047	594	21	3	1111	3	SPHKAP	2	228881555	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08	38311740	228881555	14317818	7	293											
BBX	56987	ucsc.edu	37	3	107520041	107520041	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr3:107520041G>A	ENST00000325805.8	+	17	2938	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	BBX_ENST00000416476.2_Missense_Mutation_p.G548R|BBX_ENST00000415149.2_Missense_Mutation_p.R854Q|BBX_ENST00000402543.1_Missense_Mutation_p.R834Q|BBX_ENST00000406780.1_Missense_Mutation_p.R854Q			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	884					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GGGGAGACGCGGAGCAGTACT	0.527																																																	0																	92	88	89					3																	107520041		2203	4300	6503	SO:0001583	missense	56987							AF168718	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			2008-07-18			ENSG00000114439	ENSG00000114439	ENSG00000114439	ENSG00000114439				14422	14422	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"x 001 protein"	"x 001 protein"								11680820	11680820	Standard	Standard	NM_001142568	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	uc010hpr.4	Q8WY36	Q8WY36	OTTHUMG00000150360	OTTHUMG00000150360	ENST00000325805.8:c.2651G>A	3.37:g.107520041G>A	ENSP00000319974:p.Arg884Gln																	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37		CCDS46881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.941703|2.941703	0.53079|0.53079	.|.	.|.	ENSG00000114439|ENSG00000114439	ENST00000416476|ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780;ENST00000458347	D|T;D;D;T	0.99245|0.97642	-5.62|1.55;-4.47;-4.46;1.55	6.02|6.02	5.14|5.14	0.70334|0.70334	6.02|6.02	5.14|5.14	0.70334|0.70334	.|.	.|0.354425	.|0.30028	.|N	.|0.010597	D|D	0.95965|0.95965	0.8686|0.8686	L|L	0.27053|0.27053	0.805|0.805	0.31493|0.31493	N|N	0.665777|0.665777	B|P;D	0.29508|0.76494	0.246|0.88;0.999	B|B;D	0.11329|0.71870	0.006|0.288;0.975	D|D	0.93134|0.93134	0.6535|0.6535	9|10	0.87932|0.62326	D|D	0|0.03	-6.7643|-6.7643	5.805|5.805	0.18434|0.18434	0.2493:0.0:0.7507:0.0|0.2493:0.0:0.7507:0.0	.|.	548|884;854	A2RRM7|Q8WY36;Q8WY36-2	.|BBX_HUMAN;.	R|Q	548|854;834;884;854;74	ENSP00000403860:G548R|ENSP00000408358:R854Q;ENSP00000385317:R834Q;ENSP00000319974:R884Q;ENSP00000385530:R854Q	ENSP00000403860:G548R|ENSP00000319974:R884Q	G|R	+|+	1|2	0|0	0|0	BBX|BBX	109002731|109002731	109002731|109002731	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.508000|0.508000	0.34012|0.34012	4.511000|4.511000	0.60462|0.60462	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GGA|CGG		0.527	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1			-26	-26	22	22	NM_020235		4			17							4	17		A	107520041	G	A	107520041	3	1	16	1	0	0	0	0	1	0	0	0	1343	1116	39	1	2705	1	BBX	3	107520041	Missense_Mutation	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08		107520041	90502389	8	294											
ABCA13	154664	broad.mit.edu	37	7	48311887	48311887	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr7:48311887A>T	ENST00000435803.1	+	17	2648	c.2624A>T	c.(2623-2625)cAg>cTg	p.Q875L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	875					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACTTTTCCCAGTTGTTCCAT	0.313																																						ENST00000435803.1											0			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2623-2625)cAg>cTg	ATP-binding cassette, sub-family A (ABC1), member 13						107	106	107					7																	48311887		1811	4073	5884	SO:0001583	missense	154664			transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311887A>T	AY204751	AY204751	CCDS47584.1	CCDS47584.1	7p12.3	2012-03-14			2012-03-14			ENSG00000179869	ENSG00000179869	ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	"ATP binding cassette transporters / subfamily A"	14638	14638	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607807	607807						12697998	12697998	Standard	Standard	NM_152701	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	uc003toq.2	Q86UQ4	Q86UQ4	OTTHUMG00000155840	OTTHUMG00000155840	ENST00000435803.1:c.2624A>T	7.37:g.48311887A>T	ENSP00000411096:p.Gln875Leu			p.Q875L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2648	+			875		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2624A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	9.081	0.999410	0.19121	.	.	ENSG00000179869	ENST00000435803	D	0.85629	-2.01	5.33	1.53	0.23141	5.33	1.53	0.23141	.	0.536026	0.15692	N	0.249392	T	0.78000	0.4215	M	0.64997	1.995	0.09310	N	1	P	0.38922	0.651	B	0.32805	0.153	T	0.70324	-0.4903	10	0.87932	D	0	.	5.1346	0.14928	0.6893:0.1521:0.1586:0.0	.	875	Q86UQ4	ABCAD_HUMAN	L	875	ENSP00000411096:Q875L	ENSP00000411096:Q875L	Q	+	2	0	0	ABCA13	48282433	48282433	0.008000	0.16893	0.002000	0.10522	0.242000	0.25591	1.272000	0.33109	0.502000	0.28037	0.528000	0.53228	CAG		0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		97.807068	33	33	186	186	NM_152701		31	98.783777	98.783777	50	0.382716	0	0	0	1	0	31	50	0.382716	T	48311887	A	T	48311887	3	4	16	1	0	0	0	0	1	0	0	0	31	188	7	5	2519	5	ABCA13	7	48311887	Missense_Mutation	SNP	A	TCGA-V4-A9EK-01A-11D-A39W-08		48311887	110826776	9	295											
PCLO	27445	broad.mit.edu	37	7	82585204	82585204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr7:82585204delT	ENST00000333891.9	-	5	5402	c.5065delA	c.(5065-5067)acafs	p.T1689fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.T1689fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T1689fs*6(1)|p.T1620fs*6(1)		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						TACAAACTTGTTTTTTTCTGT	0.428																																						ENST00000333891.9											2	Insertion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)	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						c.(5065-5067)acafs	piccolo presynaptic cytomatrix protein						88	81	84					7																	82585204		1856	4091	5947	SO:0001589	frameshift_variant	27445			cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585204delT	AB011131	AB011131	CCDS47630.1, CCDS47631.1	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	ENSG00000186472	ENSG00000186472				13406	13406	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"aczonin"	"aczonin"	604918	604918	"piccolo (presynaptic cytomatrix protein)"		"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	8900486, 9628581	Standard	Standard	NM_014510	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	uc003uhx.2	Q9Y6V0	Q9Y6V0	OTTHUMG00000154853	OTTHUMG00000154853	ENST00000333891.9:c.5065delA	7.37:g.82585204delT	ENSP00000334319:p.Thr1689fs		PCLO_ENST00000423517.2_Frame_Shift_Del_p.T1689fs	p.T1689fs	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			5	5402	-						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.5065delA	CCDS47630.1																																																																																									0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	.	.	0	0	53	53	NM_014510		7			13	0.35						7	13	0.35	-	82585204	T	-	82585204	7	5	16	1	0	1	0	1	0	0	0	0	11583	1725	60	0	10464	0	PCLO	7	82585204	Frame_Shift_Del	DEL	T	TCGA-V4-A9EK-01A-11D-A39W-08	34273317	82585204	76553459	10	296											
COL14A1	7373	broad.mit.edu	37	8	121237427	121237427	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr8:121237427A>G	ENST00000297848.3	+	15	2108	c.1838A>G	c.(1837-1839)gAg>gGg	p.E613G	COL14A1_ENST00000247781.3_Missense_Mutation_p.E518G|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E613G|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGACAGTCAGAGCCTCTGACT	0.423																																						ENST00000297848.3											0			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1837-1839)gAg>gGg	collagen, type XIV, alpha 1						75	74	74					8																	121237427		2203	4300	6503	SO:0001583	missense	7373			cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121237427A>G			CCDS34938.1	CCDS34938.1	8q23	2013-02-11	2008-02-04		2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955	ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	"Collagens", "Fibronectin type III domain containing"	2191	2191	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120324	120324	"undulin"	UND	"undulin"	UND		1716629, 9427527	1716629, 9427527	Standard	Standard	NM_021110	NM_021110		Approved		uc003yox.4	uc003yox.4	Q05707	Q05707	OTTHUMG00000149877	OTTHUMG00000149877	ENST00000297848.3:c.1838A>G	8.37:g.121237427A>G	ENSP00000297848:p.Glu613Gly		COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E613G|COL14A1_ENST00000247781.3_Missense_Mutation_p.E518G|COL14A1_ENST00000432943.2_3'UTR	p.E613G	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		15	2108	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		613	Fibronectin type-III 4.		Missense_Mutation	SNP	ENST00000297848.3	37	c.1838A>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.819041	0.50633	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.39	4.22	0.49857	5.39	4.22	0.49857	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.133204	0.52532	D	0.000079	T	0.61974	0.2390	M	0.76328	2.33	0.80722	D	1	D;P	0.54397	0.966;0.879	P;P	0.57371	0.819;0.708	T	0.60271	-0.7296	10	0.14252	T	0.57	.	9.7997	0.40757	0.8168:0.0:0.0:0.1832	.	613;613	Q05707-2;Q05707	.;COEA1_HUMAN	G	613;613;518;426	ENSP00000311809:E613G;ENSP00000297848:E613G;ENSP00000247781:E518G;ENSP00000409461:E426G	ENSP00000247781:E518G	E	+	2	0	0	COL14A1	121306608	121306608	1.000000	0.71417	0.506000	0.27664	0.796000	0.44982	5.607000	0.67648	0.847000	0.35167	0.459000	0.35465	GAG		0.423	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		84.160177	-15	-15	78	78	NM_021110		29	86.546998	86.546998	60	0.325843	0	0	0	1	0	29	60	0.325843	G	121237427	A	G	121237427	3	3	16	1	0	0	0	0	1	0	0	0	3671	304	11	4	1892	4	COL14A1	8	121237427	Missense_Mutation	SNP	A	TCGA-V4-A9EK-01A-11D-A39W-08		121237427	25126595	11	297											
EIF2C2	27161	broad.mit.edu	37	8	141570580	141570580	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr8:141570580G>A	ENST00000220592.5	-	5	660	c.548C>T	c.(547-549)aCc>aTc	p.T183I	AGO2_ENST00000519980.1_Missense_Mutation_p.T183I	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	183					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TTCGGACGCGGTGAAGAAGGA	0.612																																						ENST00000220592.5											0										c.(547-549)aCc>aTc	argonaute RISC catalytic component 2						56	60	59					8																	141570580		2203	4300	6503	SO:0001583	missense	27161						g.chr8:141570580G>A	AF121255	AF121255	CCDS6380.1, CCDS55279.1	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	"Argonaute/PIWI family"	3263	3263	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"argonaute 2"	"argonaute 2"	606229	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	10534406, 12906857	Standard	Standard	NM_012154	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	uc003yvn.3	Q9UKV8	Q9UKV8	OTTHUMG00000164232	OTTHUMG00000164232	ENST00000220592.5:c.548C>T	8.37:g.141570580G>A	ENSP00000220592:p.Thr183Ile		AGO2_ENST00000519980.1_Missense_Mutation_p.T183I	p.T183I	NM_012154.3	NP_036286.2					5	660	-					Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.548C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427286	0.62733	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.10288	2.89;2.89	5.02	5.02	0.67125	5.02	5.02	0.67125	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	L	0.28649	0.875	0.80722	D	1	B;B	0.29805	0.257;0.069	B;B	0.33121	0.142;0.158	T	0.09907	-1.0653	10	0.87932	D	0	-14.5758	18.7056	0.91637	0.0:0.0:1.0:0.0	.	183;183	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	I	183	ENSP00000220592:T183I;ENSP00000430176:T183I	ENSP00000220592:T183I	T	-	2	0	0	EIF2C2	141639762	141639762	1.000000	0.71417	0.930000	0.37139	0.479000	0.33129	7.867000	0.87062	2.495000	0.84180	0.655000	0.94253	ACC		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4		-3.717131	-13	-13	46	46			3	6.405961	6.405961	47	0.06	0	0	0	1	0	3	47	0.06	A	141570580	G	A	141570580	3	1	16	1	0	0	0	0	1	0	0	0	5006	1261	44	3	2091	3	EIF2C2	8	141570580	Missense_Mutation	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08	20333153	141570580	4793442	12	298											
KIAA1797	54914	broad.mit.edu	37	9	20929514	20929514	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:20929514C>A	ENST00000380249.1	+	29	3600	c.3236C>A	c.(3235-3237)gCt>gAt	p.A1079D	FOCAD_ENST00000338382.6_Missense_Mutation_p.A1079D|FOCAD_ENST00000605086.1_Missense_Mutation_p.A515D	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1079						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AAACCAAGTGCTGATGAGTCT	0.443																																						ENST00000380249.1											0										c.(3235-3237)gCt>gAt	focadhesin						121	92	102					9																	20929514		2203	4300	6503	SO:0001583	missense	54914				integral to membrane	binding	g.chr9:20929514C>A	AB058700	AB058700	CCDS34993.1	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352	ENSG00000188352	ENSG00000188352				23377	23377	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614606	614606	"KIAA1797"	KIAA1797	"KIAA1797"	KIAA1797		22427331	22427331	Standard	Standard	XM_006716794	XM_006716794		Approved	FLJ20375	uc003zog.1	uc003zog.1	Q5VW36	Q5VW36	OTTHUMG00000066930	OTTHUMG00000066930	ENST00000380249.1:c.3236C>A	9.37:g.20929514C>A	ENSP00000369599:p.Ala1079Asp		FOCAD_ENST00000605086.1_Missense_Mutation_p.A515D|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1079D	p.A1079D	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			29	3600	+			1079		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.3236C>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459661	0.96240	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.14640	2.49;2.49	6.16	6.16	0.99307	6.16	6.16	0.99307	Armadillo-type fold (1);	0.048945	0.85682	D	0.000000	T	0.38427	0.1040	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	P	0.62560	0.904	T	0.02126	-1.1209	10	0.87932	D	0	-26.1172	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1079	Q5VW36	K1797_HUMAN	D	1079	ENSP00000369599:A1079D;ENSP00000344307:A1079D	ENSP00000344307:A1079D	A	+	2	0	0	KIAA1797	20919514	20919514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.271000	0.78506	2.937000	0.99478	0.650000	0.86243	GCT		0.443	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1		-3.215769	37	37	112	112	NM_017794		3	6.360778	6.360778	45	0.0625	1	0	0.115264	1	0.115264	3	45	0.0625	A	20929514	C	A	20929514	3	1	16	1	0	0	0	0	1	0	0	0	8258	797	28	5	3338	5	KIAA1797	9	20929514	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08		20929514	120283917	13	299											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		62.420080	13	13	125	125	NM_002072		19	62.546628	62.546628	24	0.44186	0	0	0	1	0	19	24	0.44186	G	80409488	T	G	80409488	3	3	16	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EK-01A-11D-A39W-08	59479974	80409488	60803943	14	300											
DNM1	1759	broad.mit.edu	37	9	131008684	131008684	+	Silent	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:131008684G>A	ENST00000372923.3	+	16	1775	c.1683G>A	c.(1681-1683)aaG>aaA	p.K561K	DNM1_ENST00000486160.1_Silent_p.K561K|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000493925.1_3'UTR|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000393594.3_Silent_p.K561K|DNM1_ENST00000475805.1_Silent_p.K561K|DNM1_ENST00000341179.7_Silent_p.K561K	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	561	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGAAAGAGAAGAAATACATGC	0.542																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1681-1683)aaG>aaA	dynamin 1						167	128	141					9																	131008684		2203	4300	6503	SO:0001819	synonymous_variant	1759			receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008684G>A	L07807	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			2013-01-10			ENSG00000106976	ENSG00000106976	ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	2972	2972	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602377	602377		DNM		DNM		2144893, 9143509	2144893, 9143509	Standard	Standard	XM_005251763	XM_005251763		Approved		uc022bob.1	uc022bob.1	Q05193	Q05193	OTTHUMG00000020733	OTTHUMG00000020733	ENST00000372923.3:c.1683G>A	9.37:g.131008684G>A			DNM1_ENST00000372923.3_Silent_p.K561K|DNM1_ENST00000486160.1_Silent_p.K561K|DNM1_ENST00000393594.3_Silent_p.K561K|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Silent_p.K561K	p.K561K	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			16	1775	+			561	PH.	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.1683G>A	CCDS6895.1																																																																																									0.542	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1		35.627155	-36	-36	34	34	NM_004408		11	35.730307	35.730307	8	0.578947	0	0	0	1	0	11	8	0.578947	A	131008684	G	A	131008684	2	1	16	1	0	0	0	0	0	0	0	1	4670	933	33	3		3	DNM1	9	131008684	Silent	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08	50599196	131008684	10204747	15	301			2	3		2	2	92	G		5.291111e-05
DNM1	1759	broad.mit.edu	37	9	131008775	131008775	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:131008775G>A	ENST00000372923.3	+	16	1866	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	DNM1_ENST00000486160.1_Missense_Mutation_p.E592K|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000493925.1_3'UTR|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000393594.3_Missense_Mutation_p.E592K|DNM1_ENST00000475805.1_Missense_Mutation_p.E592K|DNM1_ENST00000341179.7_Missense_Mutation_p.E592K	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	592	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTTTAACACGGAGCAGAGGTG	0.557																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1774-1776)Gag>Aag	dynamin 1						136	95	109					9																	131008775		2203	4300	6503	SO:0001583	missense	1759			receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008775G>A	L07807	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			2013-01-10			ENSG00000106976	ENSG00000106976	ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	2972	2972	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602377	602377		DNM		DNM		2144893, 9143509	2144893, 9143509	Standard	Standard	XM_005251763	XM_005251763		Approved		uc022bob.1	uc022bob.1	Q05193	Q05193	OTTHUMG00000020733	OTTHUMG00000020733	ENST00000372923.3:c.1774G>A	9.37:g.131008775G>A	ENSP00000362014:p.Glu592Lys		DNM1_ENST00000372923.3_Missense_Mutation_p.E592K|DNM1_ENST00000486160.1_Missense_Mutation_p.E592K|DNM1_ENST00000393594.3_Missense_Mutation_p.E592K|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Missense_Mutation_p.E592K	p.E592K	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			16	1866	+			592	PH.	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1774G>A	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	36	5.626414	0.96671	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	4.71	4.71	0.59529	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.249757	0.39407	N	0.001373	D	0.97059	0.9039	M	0.80982	2.52	0.80722	D	1	P;P	0.47484	0.896;0.873	P;P	0.55615	0.78;0.673	D	0.97059	0.9769	10	0.48119	T	0.1	-2.6415	17.8368	0.88700	0.0:0.0:1.0:0.0	.	592;592	Q05193;Q05193-3	DYN1_HUMAN;.	K	592;592;592;587;592;592;137	ENSP00000419225:E592K;ENSP00000345680:E592K;ENSP00000362014:E592K;ENSP00000377219:E592K;ENSP00000420045:E592K	ENSP00000345680:E592K	E	+	1	0	0	DNM1	130048596	130048596	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.476000	0.97823	2.436000	0.82500	0.498000	0.49722	GAG		0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1		21.223471	-19	-19	20	20	NM_004408		7	21.238002	21.238002	8	0.466667	0	0	0	1	0	7	8	0.466667	A	131008775	G	A	131008775	3	1	16	1	0	0	0	0	1	0	0	0	4670	1175	41	3	1831	3	DNM1	9	131008775	Missense_Mutation	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08	91	131008775	10204656	16	302			2	3		2	2	92	G		5.291111e-05
CACNA1B	774	broad.mit.edu	37	9	141014734	141014736	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:141014734_141014736delCAC	ENST00000371372.1	+	45	6293_6295	c.6148_6150delCAC	c.(6148-6150)cacdel	p.H2054del	CACNA1B_ENST00000277549.5_In_Frame_Del_p.H1248del|CACNA1B_ENST00000371355.4_In_Frame_Del_p.H2055del|CACNA1B_ENST00000371363.1_In_Frame_Del_p.H2052del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.H2054del|CACNA1B_ENST00000371357.1_In_Frame_Del_p.H2053del	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2054	Poly-His.				calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.H2050delH(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCGTCGTCGCACCACCACCACC	0.7																																						ENST00000277549.5											1	Deletion - In frame(1)	central_nervous_system(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3730-3732)cacdel	calcium channel, voltage-dependent, N type, alpha 1B subunit			59,3775		11,37,1869							0.2			19	137,7599		26,85,3757	no	coding	CACNA1B	NM_000718.3		37,122,5626	A1A1,A1R,RR		1.7709,1.5389,1.694				196,11374				SO:0001651	inframe_deletion	774			membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141014734_141014736delCAC	AB209467	AB209467	CCDS59522.1, CCDS59523.1	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	1389	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601012	601012		CACNL1A5		CACNL1A5		8825650, 16382099	8825650, 16382099	Standard	Standard	NM_000718	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	uc004cog.3	Q00975	Q00975	OTTHUMG00000021002	OTTHUMG00000021002	ENST00000371372.1:c.6148_6150delCAC	9.37:g.141014743_141014745delCAC	ENSP00000360423:p.His2054del		CACNA1B_ENST00000371363.1_In_Frame_Del_p.H2052del|CACNA1B_ENST00000371355.4_In_Frame_Del_p.H2055del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.H2054del|CACNA1B_ENST00000371357.1_In_Frame_Del_p.H2053del|CACNA1B_ENST00000371372.1_In_Frame_Del_p.H2054del	p.H1248del			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	45	6299_6301	+	all_cancers(76;0.166)		2054		B1AQK5	In_Frame_Del	DEL	ENST00000371372.1	37	c.3730_3732delCAC	CCDS59522.1																																																																																									0.7	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	.	.	-7	-7	14	14	NM_000718		3			5	0.38						3	5	0.38	-	141014736	CAC	-	141014734	7	5	16	1	0	1	0	1	0	0	0	0	2539	710	25	0	6322	0	CACNA1B	9	141014734	In_Frame_Del	DEL	CAC	TCGA-V4-A9EK-01A-11D-A39W-08	10005959	141014734	198697	17	303											
PNLIP	5406	broad.mit.edu	37	10	118314738	118314738	+	Missense_Mutation	SNP	G	G	A	rs149884015		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr10:118314738G>A	ENST00000369221.2	+	7	648	c.620G>A	c.(619-621)cGa>cAa	p.R207Q		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	207					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.R207Q(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GAATTAGTCCGATTGGACCCC	0.483																																						ENST00000369221.2											1	Substitution - Missense(1)	skin(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(619-621)cGa>cAa	pancreatic lipase						91	83	85					10																	118314738		2203	4300	6503	SO:0001583	missense	5406			lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118314738G>A	BC014309	BC014309	CCDS7594.1	CCDS7594.1	10q25.3	2012-07-31			2012-07-31			ENSG00000175535	ENSG00000175535	ENSG00000175535	ENSG00000175535	3.1.1.3			9155	9155	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			246600	246600						1783385	1783385	Standard	Standard	NM_000936	NM_000936		Approved	PL	uc001lcm.3	uc001lcm.3	P16233	P16233	OTTHUMG00000019103	OTTHUMG00000019103	ENST00000369221.2:c.620G>A	10.37:g.118314738G>A	ENSP00000358223:p.Arg207Gln			p.R207Q	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	7	648	+			207		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.620G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834656	0.91036	.	.	ENSG00000175535	ENST00000369221	D	0.93133	-3.17	6.07	6.07	0.98685	6.07	6.07	0.98685	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000011	D	0.98024	0.9349	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98550	1.0636	10	0.87932	D	0	.	19.424	0.94734	0.0:0.0:1.0:0.0	.	207	P16233	LIPP_HUMAN	Q	207	ENSP00000358223:R207Q	ENSP00000358223:R207Q	R	+	2	0	0	PNLIP	118304728	118304728	1.000000	0.71417	0.998000	0.56505	0.521000	0.34408	8.029000	0.88807	2.890000	0.99128	0.585000	0.79938	CGA		0.483	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1		62.158166	-9	-9	75	75	NM_000936		21	63.237185	63.237185	38	0.355932	0	0	0	1	0	21	38	0.355932	A	118314738	G	A	118314738	3	1	16	1	0	0	0	0	1	0	0	0	12149	1058	37	1	642	1	PNLIP	10	118314738	Missense_Mutation	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08		118314738	17220009	18	304											
FTHL17	53940	broad.mit.edu	37	X	31089834	31089834	+	Silent	SNP	G	G	T			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chrX:31089834G>T	ENST00000359202.3	-	1	336	c.237C>A	c.(235-237)ggC>ggA	p.G79G		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	79	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCAGATGTGGCCACCGCGCA	0.602																																						ENST00000359202.3											0			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(235-237)ggC>ggA	ferritin, heavy polypeptide-like 17						62	55	57					X																	31089834		2202	4300	6502	SO:0001819	synonymous_variant	53940			cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089834G>T	AF285592	AF285592	CCDS14227.1	CCDS14227.1	Xp21.2	2010-07-06			2010-07-06			ENSG00000132446	ENSG00000132446	ENSG00000132446	ENSG00000132446				3987	3987	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	"cancer/testis antigen 38"	300308	300308						11279525	11279525	Standard	Standard	NM_031894	NM_031894		Approved	CT38	uc004dcl.1	uc004dcl.1	Q9BXU8	Q9BXU8	OTTHUMG00000021332	OTTHUMG00000021332	ENST00000359202.3:c.237C>A	X.37:g.31089834G>T				p.G79G	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	336	-			79	Ferritin-like diiron.	Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.237C>A	CCDS14227.1																																																																																									0.602	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1		15.771475	-18	-18	55	55	NM_031894		8	20.606672	20.606672	39	0.170213	1	0	0.000157383	1	0.00017487	8	39	0.170213	T	31089834	G	T	31089834	2	4	16	1	0	0	0	0	0	0	0	1	6083	1190	42	5		5	FTHL17	23	31089834	Silent	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08		31089834	124180726	19	305											
WDR47	22911	broad.mit.edu	37	1	109553777	109553777	+	Silent	SNP	G	G	C			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr1:109553777G>C	ENST00000369962.3	-	5	1113	c.891C>G	c.(889-891)tcC>tcG	p.S297S	WDR47_ENST00000357672.3_Silent_p.S269S|WDR47_ENST00000361054.3_Silent_p.S269S|WDR47_ENST00000400794.3_Silent_p.S304S|WDR47_ENST00000369965.4_Silent_p.S297S			O94967	WDR47_HUMAN	WD repeat domain 47	297					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TTCTCATTGGGGATGATGGAT	0.428																																						ENST00000357672.3											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(805-807)tcC>tcG	WD repeat domain 47						267	284	278					1																	109553777		2203	4296	6499	SO:0001819	synonymous_variant	22911						g.chr1:109553777G>C	AB020700	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			2013-01-09			ENSG00000085433	ENSG00000085433	ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	"WD repeat domain containing"	29141	29141	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615734	615734						10048485	10048485	Standard	Standard	NM_014969	NM_014969		Approved	KIAA0893	uc001dwl.3	uc001dwl.3	O94967	O94967	OTTHUMG00000011734	OTTHUMG00000011734	ENST00000369962.3:c.891C>G	1.37:g.109553777G>C			WDR47_ENST00000400794.3_Silent_p.S304S|WDR47_ENST00000369965.4_Silent_p.S297S|WDR47_ENST00000361054.3_Silent_p.S269S|WDR47_ENST00000369962.3_Silent_p.S297S	p.S269S			O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	1182	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	297		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Silent	SNP	ENST00000369962.3	37	c.807C>G	CCDS44187.1																																																																																									0.428	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2		375.126026	-32	-32	277	277	NM_014969		127	379.091558	379.091558	204	0.383686	0	0	0	1	0	127	204	0.383686	C	109553777	G	C	109553777	2	2	17	1	0	0	0	0	0	0	0	1	17297	1219	43	5		5	WDR47	1	109553777	Silent	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		109553777	139696844	1	306											
LRP1B	53353	broad.mit.edu	37	2	141201962	141201962	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr2:141201962G>A	ENST00000389484.3	-	65	11202	c.10231C>T	c.(10231-10233)Cca>Tca	p.P3411S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3411	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTTTACTGGGATACATTTC	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3											0			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10231-10233)Cca>Tca	low density lipoprotein receptor-related protein 1B						203	189	194					2																	141201962		2203	4300	6503	SO:0001583	missense	53353			protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141201962G>A	AF176832	AF176832	CCDS2182.1	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	"Low density lipoprotein receptors"	6693	6693	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	"LRP-deleted in tumors"	608766	608766						10766186	10766186	Standard	Standard	NM_018557	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	uc002tvj.1	Q9NZR2	Q9NZR2	OTTHUMG00000131799	OTTHUMG00000131799	ENST00000389484.3:c.10231C>T	2.37:g.141201962G>A	ENSP00000374135:p.Pro3411Ser			p.P3411S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	65	11202	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3411	LDL-receptor class A 23.	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10231C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866382	0.91511	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95554	-3.74	5.42	5.42	0.78866	5.42	5.42	0.78866	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.96231	0.8771	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94538	0.7742	10	0.25751	T	0.34	.	19.4095	0.94665	0.0:0.0:1.0:0.0	.	3411	Q9NZR2	LRP1B_HUMAN	S	3411;3349	ENSP00000374135:P3411S	ENSP00000374135:P3411S	P	-	1	0	0	LRP1B	140918432	140918432	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	9.601000	0.98297	2.817000	0.96982	0.563000	0.77884	CCA		0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		183.430693	7	7	109	109	NM_018557		58	184.13217	184.13217	79	0.423358	0	0	0	1	0	58	79	0.423358	A	141201962	G	A	141201962	3	1	17	1	0	0	0	0	1	0	0	0	8955	1232	43	3	3676	3	LRP1B	2	141201962	Missense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		141201962	101997411	2	307											
BAP1	8314	broad.mit.edu	37	3	52438542	52438542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr3:52438542G>A	ENST00000460680.1	-	12	1648	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q375*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCTGAGTACTGCTGGGGTGGG	0.572			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1177-1179)Cag>Tag	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						117	89	99					3																	52438542		2203	4300	6503	SO:0001587	stop_gained	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52438542G>A	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1177C>T	3:g.52438542G>A	ENSP00000417132:p.Gln393*		BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q375*	p.Q393*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	12	1648	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1		c.1177C>T	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	38	6.723555	0.97788	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.124915	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	17.6638	0.88198	0.0:0.0:1.0:0.0	.	.	.	.	X	393;375	.	ENSP00000296288:Q375X	Q	-	1	0	0	BAP1	52413582	52413582	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.512000	0.81728	2.603000	0.88011	0.655000	0.94253	CAG		0.572	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	8.120000e+00	1.635000e+01	2	2	28	28			4			2	0.667						4	2	0.667	A	52438542	G	A	52438542	4	1	17	1	0	0	0	0	0	1	0	0	1311	1328	46	2	1036	2	BAP1	3	52438542	Nonsense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		52438542	145583888	3	308	5	2									
BAP1	8314	broad.mit.edu	37	3	52438543	52438548	+	In_Frame_Del	DEL	CTGGGG	CTGGGG	-			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr3:52438543_52438548delCTGGGG	ENST00000460680.1	-	12	1642_1647	c.1171_1176delCCCCAG	c.(1171-1176)ccccagdel	p.PQ391del	BAP1_ENST00000296288.5_In_Frame_Del_p.PQ373del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGAGTACTGCTGGGGTGGGCGGACT	0.578			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1171-1176)ccccagdel	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001651	inframe_deletion	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52438543_52438548delCTGGGG	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1171_1176delCCCCAG	3:g.52438543_52438548delCTGGGG	ENSP00000417132:p.Pro391_Gln392del		BAP1_ENST00000296288.5_In_Frame_Del_p.PQ373del	p.PQ391del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	12	1642_1647	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	In_Frame_Del	DEL	ENST00000460680.1		c.1171_1176delCCCCAG	CCDS2853.1																																																																																									0.578	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	8.110000e+00	1.634000e+01	1	1	27	27			4			2	0.667						4	2	0.667	-	52438548	CTGGGG	-	52438543	7	5	17	1	0	1	0	1	0	0	0	0	1311	796	28	0	1037	0	BAP1	3	52438543	In_Frame_Del	DEL	CTGGGG	TCGA-V4-A9EL-01A-11D-A39W-08	1	52438543	145583887	4	309	5	2									
LMLN	89782	broad.mit.edu	37	3	197710814	197710814	+	Splice_Site	SNP	G	G	A			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr3:197710814G>A	ENST00000330198.4	+	7	751	c.729G>A	c.(727-729)agG>agA	p.R243R	LMLN_ENST00000420910.2_Splice_Site_p.R243R|LMLN_ENST00000482695.1_Splice_Site_p.R191R|LMLN_ENST00000332636.5_Splice_Site_p.R191R	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	243					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTTTTGACAGGCCAATAGCAG	0.368																																						ENST00000330198.4											0			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(727-729)agG>agA	leishmanolysin-like (metallopeptidase M8 family)						127	113	118					3																	197710814		2203	4300	6503	SO:0001630	splice_region_variant	89782			cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197710814G>A	AJ312398	AJ312398	CCDS3332.1, CCDS46988.1	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			2008-02-04			ENSG00000185621	ENSG00000185621	ENSG00000185621	ENSG00000185621	3.4.24.36			15991	15991	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609380	609380								Standard	Standard	NM_033029	NM_033029		Approved	Gp63, Msp	uc010iar.3	uc010iar.3	Q96KR4	Q96KR4	OTTHUMG00000155375	OTTHUMG00000155375	ENST00000330198.4:c.729-1G>A	3.37:g.197710814G>A			LMLN_ENST00000482695.1_Splice_Site_p.R191R|LMLN_ENST00000420910.2_Splice_Site_p.R243R|LMLN_ENST00000332636.5_Splice_Site_p.R191R	p.R243R	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	7	751	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	243		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Splice_Site	SNP	ENST00000330198.4	37	c.729G>A	CCDS3332.1																																																																																									0.368	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1		-6.125926	11	11	77	77	NM_033029	Silent	3	6.483899	6.483899	56	0.050847	0	0	0	1	0	3	56	0.050847	A	197710814	G	A	197710814	5	1	17	1	0	0	0	0	0	0	1	0	8847	1217	42	2	755	2	LMLN	3	197710814	Splice_Site	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08	145272271	197710814	311616	5	310											
SYTL3	94120	broad.mit.edu	37	6	159181693	159181693	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr6:159181693G>A	ENST00000297239.9	+	14	1524	c.1330G>A	c.(1330-1332)Gtt>Att	p.V444I	SYTL3_ENST00000360448.3_Missense_Mutation_p.V376I|SYTL3_ENST00000367081.3_Missense_Mutation_p.V170I			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	444					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGAAGACAGCGTTCCTCAGAG	0.557																																						ENST00000297239.9											0			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1330-1332)Gtt>Att	synaptotagmin-like 3						123	114	117					6																	159181693		2203	4300	6503	SO:0001583	missense	94120			intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159181693G>A	AK055750	AK055750	CCDS34563.1, CCDS56458.1	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			2008-07-04			ENSG00000164674	ENSG00000164674	ENSG00000164674	ENSG00000164674				15587	15587	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11773082	11773082	Standard	Standard	NM_001242384	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	uc003qrp.3	Q4VX76	Q4VX76	OTTHUMG00000015916	OTTHUMG00000015916	ENST00000297239.9:c.1330G>A	6.37:g.159181693G>A	ENSP00000297239:p.Val444Ile		SYTL3_ENST00000360448.3_Missense_Mutation_p.V376I|SYTL3_ENST00000367081.3_Missense_Mutation_p.V170I	p.V444I			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	14	1524	+		Breast(66;0.000776)|Ovarian(120;0.0303)	444		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1330G>A	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	7.930	0.740384	0.15642	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.63096	2.15;2.14;-0.02	4.3	-8.0	0.01126	4.3	-8.0	0.01126	.	2.784810	0.01180	N	0.007074	T	0.11452	0.0279	N	0.08118	0	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.005	B;B;B	0.09377	0.003;0.001;0.004	T	0.06144	-1.0843	10	0.15066	T	0.55	.	3.4759	0.07585	0.3914:0.3776:0.1257:0.1053	.	170;444;376	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	I	376;444;444;170	ENSP00000353631:V376I;ENSP00000297239:V444I;ENSP00000356048:V170I	ENSP00000297239:V444I	V	+	1	0	0	SYTL3	159101681	159101681	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.851000	0.00732	-1.958000	0.01019	-0.119000	0.15052	GTT		0.557	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		137.898842	-24	-24	90	90			41	140.36428	140.36428	16	0.719298	0	0	0	1	0	41	16	0.719298	A	159181693	G	A	159181693	3	1	17	1	0	0	0	0	1	0	0	0	15481	1145	40	1	1164	1	SYTL3	6	159181693	Missense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		159181693	11933374	6	311											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		145.834004	-7	-7	105	105	NM_002072		46	146.411989	146.411989	63	0.422018	0	0	0	1	0	46	63	0.422018	A	80409488	T	A	80409488	3	1	17	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EL-01A-11D-A39W-08		80409488	60803943	7	312											
NUP188	23511	broad.mit.edu	37	9	131760467	131760467	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr9:131760467G>A	ENST00000372577.2	+	31	3410	c.3389G>A	c.(3388-3390)cGc>cAc	p.R1130H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1130					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGTGCGTCGCCAGCTCTTT	0.438																																						ENST00000372577.2											0			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(3388-3390)cGc>cAc	nucleoporin 188kDa						203	205	204					9																	131760467		2203	4300	6503	SO:0001583	missense	23511			carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131760467G>A	D79991	D79991	CCDS35156.1	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319	ENSG00000095319	ENSG00000095319				17859	17859	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615587	615587	"KIAA0169"	KIAA0169	"KIAA0169"	KIAA0169		11029043	11029043	Standard	Standard	NM_015354	NM_015354		Approved		uc004bws.2	uc004bws.2	Q5SRE5	Q5SRE5	OTTHUMG00000020768	OTTHUMG00000020768	ENST00000372577.2:c.3389G>A	9.37:g.131760467G>A	ENSP00000361658:p.Arg1130His			p.R1130H	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			31	3410	+			1130		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3389G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	9.043	0.990052	0.18966	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.31510	1.49	5.67	2.86	0.33363	5.67	2.86	0.33363	.	0.257998	0.39544	N	0.001326	T	0.20740	0.0499	L	0.36672	1.1	0.30026	N	0.813911	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.22347	-1.0219	10	0.15499	T	0.54	-2.5035	9.5606	0.39366	0.3138:0.0:0.6862:0.0	.	463;1130	E9PET9;Q5SRE5	.;NU188_HUMAN	H	1019;1130	ENSP00000361658:R1130H	ENSP00000349125:R1019H	R	+	2	0	0	NUP188	130800288	130800288	0.998000	0.40836	1.000000	0.80357	0.579000	0.36224	0.717000	0.25851	0.349000	0.23975	-1.149000	0.01842	CGC		0.438	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		-84.332469	-94	-94	278	278			5	7.001185	7.001185	336	0.014663	0	0	0	1	0	5	336	0.014663	A	131760467	G	A	131760467	3	1	17	1	0	0	0	0	1	0	0	0	10758	1087	38	1	3511	1	NUP188	9	131760467	Missense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08	51350979	131760467	9452964	8	313											
PITRM1	10531	broad.mit.edu	37	10	3191920	3191920	+	Silent	SNP	G	G	A			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr10:3191920G>A	ENST00000224949.4	-	16	1798	c.1764C>T	c.(1762-1764)tgC>tgT	p.C588C	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.C146C|PITRM1_ENST00000451104.2_Silent_p.C556C|PITRM1_ENST00000464395.1_5'Flank|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Silent_p.C588C			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	588					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGGGCTGGGCGCAGTACTGAA	0.473																																						ENST00000380989.2											0			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(1762-1764)tgC>tgT	pitrilysin metallopeptidase 1						110	113	112					10																	3191920		1889	4123	6012	SO:0001819	synonymous_variant	10531			proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3191920G>A	AB029027	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959	ENSG00000107959	ENSG00000107959				17663	17663	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"PreP peptidasome"	"PreP peptidasome"			"pitrilysin metalloproteinase 1"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	1036083, 10470851, 16849325	Standard	Standard	NM_014889	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	uc009xhv.2	Q5JRX3	Q5JRX3	OTTHUMG00000017557	OTTHUMG00000017557	ENST00000224949.4:c.1764C>T	10.37:g.3191920G>A			PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Silent_p.C556C|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Silent_p.C146C|PITRM1_ENST00000224949.4_Silent_p.C588C	p.C588C	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			16	1802	-			556		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.1764C>T	CCDS59208.1																																																																																									0.473	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		-18.695429	-9	-9	103	103			4	7.805297	7.805297	109	0.035398	0	0	0	1	0	4	109	0.035398	A	3191920	G	A	3191920	2	1	17	1	0	0	0	0	0	0	0	1	11953	1079	38	1		1	PITRM1	10	3191920	Silent	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		3191920	132342827	9	314											
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517																																						ENST00000378880.2											0			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)ggtfs	peptidase domain containing associated with muscle regeneration 1						201	193	196					11																	35513670		2202	4298	6500	SO:0001589	frameshift_variant	25891			proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513670delC			CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			2009-09-30			ENSG00000149090	ENSG00000149090	ENSG00000149090	ENSG00000149090				24554	24554	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"	"regeneration-associated muscle protease"								15111323	15111323	Standard	Standard	NM_001282675	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	uc001mwf.3	Q6UXH9	Q6UXH9	OTTHUMG00000166328	OTTHUMG00000166328	ENST00000378880.2:c.302delG	11.37:g.35513670delC	ENSP00000368158:p.Gly101fs		PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs	p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747	-			101		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	37	c.302delG	CCDS31460.1																																																																																									0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	.	.	-43	-43	191	191	NM_015430		7			286	0.02						7	286	0.02	-	35513670	C	-	35513670	7	5	17	1	0	1	0	1	0	0	0	0	11413	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-V4-A9EL-01A-11D-A39W-08		35513670	99492846	10	315											
ACVRL1	94	broad.mit.edu	37	12	52309036	52309036	+	Missense_Mutation	SNP	G	G	A	rs377201195		TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr12:52309036G>A	ENST00000388922.4	+	7	1083	c.800G>A	c.(799-801)cGc>cAc	p.R267H	ACVRL1_ENST00000550683.1_Missense_Mutation_p.R281H|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R93H	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATGACCTCCCGCAACTCGAGC	0.617																																						ENST00000550683.1											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(841-843)cGc>cAc	activin A receptor type II-like 1	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64	55	58		800,800	5.4	1	12		58	0,8600		0,0,4300	no	missense,missense	ACVRL1	NM_000020.2,NM_001077401.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	267/504,267/504	52309036	1,13005	2203	4300	6503	SO:0001583	missense	94			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52309036G>A	L17075	L17075	CCDS31804.1	CCDS31804.1	12q13.13	2014-09-17			2014-09-17			ENSG00000139567	ENSG00000139567	ENSG00000139567	ENSG00000139567				175	175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601284	601284		ACVRLK1, ORW2		ACVRLK1, ORW2		8397373, 8640225	8397373, 8640225	Standard	Standard	NM_000020	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	uc001rzk.3	P37023	P37023	OTTHUMG00000169507	OTTHUMG00000169507	ENST00000388922.4:c.800G>A	12.37:g.52309036G>A	ENSP00000373574:p.Arg267His		ACVRL1_ENST00000419526.2_Missense_Mutation_p.R93H|ACVRL1_ENST00000388922.4_Missense_Mutation_p.R267H	p.R281H	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	6	943	+			267	Protein kinase.	A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.842G>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863696	0.71949	2.27E-4	0.0	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93426	-3.22;-3.22;-3.22	5.44	5.44	0.79542	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000385	D	0.94935	0.8362	L	0.36672	1.1	0.54753	D	0.999988	B;D	0.89917	0.212;1.0	B;D	0.74674	0.024;0.984	D	0.94983	0.8127	10	0.59425	D	0.04	.	19.055	0.93059	0.0:0.0:1.0:0.0	.	93;267	E7EN07;P37023	.;ACVL1_HUMAN	H	267;267;281;93;93	ENSP00000373574:R267H;ENSP00000447884:R281H;ENSP00000392492:R93H	ENSP00000267008:R267H	R	+	2	0	0	ACVRL1	50595303	50595303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.461000	0.53035	2.824000	0.97209	0.655000	0.94253	CGC		0.617	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		3.715687	-4	-4	45	45			3	7.250615	7.250615	22	0.12	0	0	0	1	0	3	22	0.12	A	52309036	G	A	52309036	3	1	17	1	0	0	0	0	1	0	0	0	225	1087	38	1	822	1	ACVRL1	12	52309036	Missense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		52309036	81542859	11	316											
SERPINB4	6318	broad.mit.edu	37	18	61305232	61305232	+	Silent	SNP	C	C	T			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr18:61305232C>T	ENST00000341074.5	-	8	1009	c.894G>A	c.(892-894)acG>acA	p.T298T	SERPINB4_ENST00000356424.6_Silent_p.T246T	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	298					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTTCTCAACGTGTCCTTGA	0.453																																						ENST00000341074.5											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(892-894)acG>acA	serpin peptidase inhibitor, clade B (ovalbumin), member 4						185	160	168					18																	61305232		2203	4300	6503	SO:0001819	synonymous_variant	6318						g.chr18:61305232C>T	X89015	X89015	CCDS11986.1	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073	ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	"Serine (or cysteine) peptidase inhibitors"	10570	10570	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	"squamous cell carcinoma antigen 2"	600518	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	7724531, 14630915, 24172014	Standard	Standard	NM_175041	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1			P48594	P48594	OTTHUMG00000060405	OTTHUMG00000060405	ENST00000341074.5:c.894G>A	18.37:g.61305232C>T			SERPINB4_ENST00000356424.6_Silent_p.T246T	p.T298T	NM_002974.2	NP_002965.1					8	1009	-					A8K847	Silent	SNP	ENST00000341074.5	37	c.894G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	5.939	0.357213	0.11239	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.51	-9.03	0.00737	4.51	-9.03	0.00737	.	.	.	.	.	T	0.16514	0.0397	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14699	-1.0463	4	.	.	.	.	3.1776	0.06573	0.1342:0.1224:0.239:0.5045	.	.	.	.	H	279	.	.	R	-	2	0	0	SERPINB4	59456212	59456212	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-4.287000	0.00259	-2.264000	0.00689	-0.192000	0.12808	CGT		0.453	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2		66.299786	-11	-11	71	71	NM_175041		23	68.520153	68.520153	50	0.315068	0	0	0	1	0	23	50	0.315068	T	61305232	C	T	61305232	2	4	17	1	0	0	0	0	0	0	0	1	14103	523	19	1		1	SERPINB4	18	61305232	Silent	SNP	C	TCGA-V4-A9EL-01A-11D-A39W-08		61305232	16772016	12	317											
RTTN	25914	ucsc.edu	37	18	67776945	67776945	+	Missense_Mutation	SNP	G	G	A	rs369864357		TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr18:67776945G>A	ENST00000255674.6	-	28	3978	c.3692C>T	c.(3691-3693)tCg>tTg	p.S1231L	RTTN_ENST00000437017.1_Missense_Mutation_p.S1231L|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1231					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAGAAGTTCCGAGCATTTCCT	0.438																																																	0												G	LEU/SER	1,3743		0,1,1871	43	43	43		3692	-0.5	0.7	18		43	0,8208		0,0,4104	no	missense	RTTN	NM_173630.3	145	0,1,5975	AA,AG,GG		0.0,0.0267,0.0084	benign	1231/2227	67776945	1,11951	1872	4104	5976	SO:0001583	missense	25914							AL117635	AL117635	CCDS42443.1	CCDS42443.1	18q22.1	2008-08-01			2008-08-01				ENSG00000176225		ENSG00000176225				18654	18654	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610436	610436						11900971	11900971	Standard	Standard	NM_173630	NM_173630		Approved	DKFZP434G145	uc002lkp.2	uc002lkp.2	Q86VV8	Q86VV8			ENST00000255674.6:c.3692C>T	18.37:g.67776945G>A	ENSP00000255674:p.Ser1231Leu																	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37		CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	2.235	-0.375116	0.05034	2.67E-4	0.0	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.68479	-0.33;-0.33	5.08	-0.495	0.12030	5.08	-0.495	0.12030	.	0.291643	0.29362	N	0.012375	T	0.17534	0.0421	N	0.00128	-2.045	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40421	-0.9564	10	0.02654	T	1	.	5.6031	0.17365	0.6496:0.133:0.2174:0.0	.	1231	Q86VV8	RTTN_HUMAN	L	1231	ENSP00000255674:S1231L;ENSP00000399520:S1231L	ENSP00000255674:S1231L	S	-	2	0	0	RTTN	65927925	65927925	0.872000	0.30054	0.700000	0.30305	0.943000	0.58893	1.381000	0.34362	-0.264000	0.09365	-0.440000	0.05779	TCG		0.438	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1			-17	-17	28	28	NM_173630		4			32							4	32		A	67776945	G	A	67776945	3	1	17	1	0	0	0	0	1	0	0	0	13737	1059	37	1	3076	1	RTTN	18	67776945	Missense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08	6471713	67776945	10300303	13	318											
ZNF473	25888	broad.mit.edu	37	19	50549632	50549632	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr19:50549632delC	ENST00000595661.1	+	6	2427	c.1932delC	c.(1930-1932)cacfs	p.H644fs	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Frame_Shift_Del_p.H644fs|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Frame_Shift_Del_p.H632fs|ZNF473_ENST00000391821.2_Frame_Shift_Del_p.H644fs			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	644					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAAAGGAGCACCCTTTTAAAT	0.453																																						ENST00000595661.1											0			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1930-1932)cacfs	zinc finger protein 473						78	73	75					19																	50549632		2203	4300	6503	SO:0001589	frameshift_variant	25888			histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549632delC	AB032967	AB032967	CCDS33077.1	CCDS33077.1	19q13.33	2013-01-08			2013-01-08								"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	23239	23239	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11782445	11782445	Standard	Standard	NM_015428	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	uc002prn.3	Q8WTR7	Q8WTR7			ENST00000595661.1:c.1932delC	19.37:g.50549632delC	ENSP00000472808:p.His644fs		ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Frame_Shift_Del_p.H644fs|ZNF473_ENST00000270617.3_Frame_Shift_Del_p.H644fs|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Frame_Shift_Del_p.H632fs	p.H644fs			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2427	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	644		A8K8T7|Q9ULS9|Q9Y4Q7	Frame_Shift_Del	DEL	ENST00000595661.1	37	c.1932delC	CCDS33077.1																																																																																									0.453	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	.	.	-10	-10	46	46	XM_046390		25			47	0.35						25	47	0.35	-	50549632	C	-	50549632	7	5	17	1	0	1	0	1	0	0	0	0	17928	506	18	0	1946	0	ZNF473	19	50549632	Frame_Shift_Del	DEL	C	TCGA-V4-A9EL-01A-11D-A39W-08		50549632	8579351	14	319											
EWSR1	2130	broad.mit.edu	37	22	29674050	29674050	+	Nonsense_Mutation	SNP	C	C	G			TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	g.chr22:29674050C>G	ENST00000397938.2	+	5	577	c.258C>G	c.(256-258)taC>taG	p.Y86*	EWSR1_ENST00000331029.7_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000333395.6_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000414183.2_Nonsense_Mutation_p.Y92*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	86	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCAGGCATACAGCCAGCCTG	0.527			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	0			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(256-258)taC>taG	EWS RNA-binding protein 1						35	36	35					22																	29674050		2203	4300	6503	SO:0001587	stop_gained	2130			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29674050C>G			CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944	ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	"RNA binding motif (RRM) containing"	3508	3508	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			133450	133450	"Ewing sarcoma breakpoint region 1"		"Ewing sarcoma breakpoint region 1"			1522903	1522903	Standard	Standard	NM_005243	NM_005243		Approved	EWS	uc003aev.3	uc003aev.3	Q01844	Q01844	OTTHUMG00000151107	OTTHUMG00000151107	ENST00000397938.2:c.258C>G	22.37:g.29674050C>G	ENSP00000381031:p.Tyr86*		EWSR1_ENST00000414183.2_Nonsense_Mutation_p.Y92*|EWSR1_ENST00000331029.7_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.Y86*|EWSR1_ENST00000333395.6_Nonsense_Mutation_p.Y86*	p.Y86*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			5	577	+			86	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Nonsense_Mutation	SNP	ENST00000397938.2	37	c.258C>G	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466621	0.63625	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000436425;ENST00000447973;ENST00000406548;ENST00000437155;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000455726;ENST00000332035	.	.	.	5.31	2.09	0.27110	5.31	2.09	0.27110	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3611	0.32359	0.0:0.6285:0.0:0.3715	.	.	.	.	X	86;86;93;92;86;87;86;92;86;86;86	.	ENSP00000330516:Y86X	Y	+	3	2	2	EWSR1	28004050	28004050	0.968000	0.33430	0.998000	0.56505	0.992000	0.81027	0.039000	0.13884	0.325000	0.23359	-0.142000	0.14014	TAC		0.527	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1		38.527190	17	17	42	42	NM_005243		11	38.57069	38.57069	9	0.55	0	0	0	1	0	11	9	0.55	G	29674050	C	G	29674050	4	3	17	1	0	0	0	0	0	1	0	0	5296	489	17	5	298	5	EWSR1	22	29674050	Nonsense_Mutation	SNP	C	TCGA-V4-A9EL-01A-11D-A39W-08		29674050	21630516	15	320											
HSPG2	3339	broad.mit.edu	37	1	22182161	22182161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:22182161delG	ENST00000374695.3	-	46	5788	c.5709delC	c.(5707-5709)cccfs	p.P1903fs	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1903	Ig-like C2-type 4.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCTGGCCGCCGGGGCCCCCTG	0.667																																						ENST00000374695.3											0			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(5707-5709)cccfs	heparan sulfate proteoglycan 2						12	13	13					1																	22182161		2195	4287	6482	SO:0001589	frameshift_variant	3339			angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22182161delG	M85289	M85289	CCDS30625.1	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	5273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"perlecan proteoglycan"	"perlecan proteoglycan"	142461	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	1685141, 11941538	Standard	Standard	XM_005245863	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	uc001bfj.3	P98160	P98160	OTTHUMG00000002674	OTTHUMG00000002674	ENST00000374695.3:c.5709delC	1.37:g.22182161delG	ENSP00000363827:p.Pro1903fs			p.P1903fs	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	46	5788	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1903	Ig-like C2-type 4.	Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	ENST00000374695.3	37	c.5709delC	CCDS30625.1																																																																																									0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	.	.	0	0	12	12	NM_005529		2			4	0.33						2	4	0.33	-	22182161	G	-	22182161	7	5	18	1	0	1	0	1	0	0	0	0	7430	1103	39	0	7674	0	HSPG2	1	22182161	Frame_Shift_Del	DEL	G	TCGA-V4-A9EM-01A-11D-A39W-08		22182161	227068460	1	321											
E2F2	1870	broad.mit.edu	37	1	23857136	23857136	+	Silent	SNP	C	C	T			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:23857136C>T	ENST00000361729.2	-	1	576	c.150G>A	c.(148-150)ccG>ccA	p.P50P		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	50					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GCGCCGTCTGCGGGTACAGCG	0.711																																						ENST00000361729.2											0			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13						c.(148-150)ccG>ccA	E2F transcription factor 2						18	24	22					1																	23857136		2200	4292	6492	SO:0001819	synonymous_variant	1870			G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:23857136C>T	L22846	L22846	CCDS236.1	CCDS236.1	1p36	2008-02-05			2008-02-05			ENSG00000007968	ENSG00000007968	ENSG00000007968	ENSG00000007968				3114	3114	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600426	600426						8246995, 8246996	8246995, 8246996	Standard	Standard	NM_004091	NM_004091		Approved	E2F-2	uc001bhe.2	uc001bhe.2	Q14209	Q14209	OTTHUMG00000003223	OTTHUMG00000003223	ENST00000361729.2:c.150G>A	1.37:g.23857136C>T				p.P50P	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	1	576	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	50		B2R9W1|Q7Z6H1	Silent	SNP	ENST00000361729.2	37	c.150G>A	CCDS236.1																																																																																									0.711	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1		4.609941	-4	-4	13	13	NM_004091		3	7.905397	7.905397	21	0.125	0	0	0	1	0	3	21	0.125	T	23857136	C	T	23857136	2	4	18	1	0	0	0	0	0	0	0	1	4867	755	27	1		1	E2F2	1	23857136	Silent	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08	1674975	23857136	225393485	2	322											
ST6GALNAC5	81849	broad.mit.edu	37	1	77334298	77334298	+	Silent	SNP	G	G	A	rs554217920	byFrequency	TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711													G|||	2	0.000399361	0	0	5008	,	,		11676	0.002		0	False		,,,				2504	0					ENST00000477717.1											0			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(130-132)caG>caA	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5						12	12	12					1																	77334298		2054	3972	6026	SO:0001819	synonymous_variant	81849			protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334298G>A			CCDS673.1	CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	"Sialyltransferases"	19342	19342	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610134	610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	10521438, 10601645	Standard	Standard	NM_030965	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	uc001dhi.3	Q9BVH7	Q9BVH7	OTTHUMG00000009687	OTTHUMG00000009687	ENST00000477717.1:c.132G>A	1.37:g.77334298G>A			ST6GALNAC5_ENST00000496845.1_3'UTR	p.Q44Q	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	367	+			44	Poly-Gln.	B1AK82	Silent	SNP	ENST00000477717.1	37	c.132G>A	CCDS673.1																																																																																									0.711	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2		0.863100	-2	-2	35	35	NM_030965		4	8.809454	8.809454	42	0.086957	0	0	0	1	0	4	42	0.086957	A	77334298	G	A	77334298	2	1	18	1	0	0	0	0	0	0	0	1	15226	962	34	2		2	ST6GALNAC5	1	77334298	Silent	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	53477162	77334298	171916323	3	323											
MAPKAPK2	9261	broad.mit.edu	37	1	206904072	206904072	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:206904072G>A	ENST00000367103.3	+	6	924	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.C244Y	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GACAAGTCCTGTGACATGTGG	0.577																																						ENST00000367103.3											0			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(730-732)tGt>tAt	mitogen-activated protein kinase-activated protein kinase 2						149	135	139					1																	206904072		2203	4300	6503	SO:0001583	missense	9261			activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206904072G>A	U12779	U12779	CCDS1466.1, CCDS31001.1	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			2008-02-05			ENSG00000162889	ENSG00000162889	ENSG00000162889	ENSG00000162889				6887	6887	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602006	602006						8179591, 8280084	8179591, 8280084	Standard	Standard	NM_004759	NM_004759		Approved		uc001hem.2	uc001hem.2	P49137	P49137	OTTHUMG00000036342	OTTHUMG00000036342	ENST00000367103.3:c.731G>A	1.37:g.206904072G>A	ENSP00000356070:p.Cys244Tyr		MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.C244Y	p.C244Y	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		6	924	+	Breast(84;0.183)		244	Protein kinase.	Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	c.731G>A	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273199	0.80580	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.49720	0.77;0.77	5.83	3.94	0.45596	5.83	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.72220	0.3433	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75827	-0.3180	9	0.87932	D	0	-14.1069	10.1253	0.42646	0.0715:0.0:0.7919:0.1367	.	244;244	P49137;P49137-2	MAPK2_HUMAN;.	Y	244	ENSP00000294981:C244Y;ENSP00000356070:C244Y	ENSP00000294981:C244Y	C	+	2	0	0	MAPKAPK2	204970695	204970695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.777000	0.99008	0.795000	0.33922	0.655000	0.94253	TGT		0.577	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1		207.143265	-28	-28	81	81	NM_004759		66	208.100673	208.100673	44	0.6	0	0	0	1	0	66	44	0.6	A	206904072	G	A	206904072	3	1	18	1	0	0	0	0	1	0	0	0	9289	1377	48	3	753	3	MAPKAPK2	1	206904072	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	129569774	206904072	42346549	4	324											
HHAT	55733	broad.mit.edu	37	1	210536203	210536203	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr1:210536203A>T	ENST00000367010.1	+	3	326	c.99A>T	c.(97-99)gaA>gaT	p.E33D	HHAT_ENST00000537898.1_Missense_Mutation_p.E33D|HHAT_ENST00000261458.3_Missense_Mutation_p.E33D|HHAT_ENST00000413764.2_Missense_Mutation_p.E33D|HHAT_ENST00000545154.1_Missense_Mutation_p.E34D|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Missense_Mutation_p.E33D|HHAT_ENST00000391905.3_Missense_Mutation_p.E33D|HHAT_ENST00000308852.6_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	33					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CAGAACACGAAGAGGAGCTGG	0.398																																						ENST00000367010.1											0			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(97-99)gaA>gaT	hedgehog acyltransferase						87	85	86					1																	210536203		2203	4300	6503	SO:0001583	missense	55733			multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210536203A>T	AK001586	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			2008-02-05			ENSG00000054392	ENSG00000054392	ENSG00000054392	ENSG00000054392				18270	18270	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605743	605743						11160356	11160356	Standard	Standard	NM_001170587	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	uc009xcx.3	Q5VTY9	Q5VTY9	OTTHUMG00000036447	OTTHUMG00000036447	ENST00000367010.1:c.99A>T	1.37:g.210536203A>T	ENSP00000355977:p.Glu33Asp		HHAT_ENST00000537898.1_Missense_Mutation_p.E33D|HHAT_ENST00000261458.3_Missense_Mutation_p.E33D|HHAT_ENST00000391905.3_Missense_Mutation_p.E33D|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Missense_Mutation_p.E33D|HHAT_ENST00000413764.2_Missense_Mutation_p.E33D|HHAT_ENST00000308852.6_Intron|HHAT_ENST00000545154.1_Missense_Mutation_p.E34D	p.E33D	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	3	326	+			33		B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.99A>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	a	17.06	3.292996	0.60086	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000261458;ENST00000367010	T;T;T;T;T;T;T	0.50548	2.2;0.74;2.08;2.09;2.19;2.2;2.2	4.61	4.61	0.57282	4.61	4.61	0.57282	.	0.049418	0.85682	D	0.000000	T	0.59514	0.2199	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.61697	0.99;0.984;0.984;0.976	D;D;D;P	0.70935	0.971;0.956;0.956;0.683	T	0.56056	-0.8042	10	0.16896	T	0.51	-15.0535	10.3285	0.43807	1.0:0.0:0.0:0.0	.	34;33;33;33	F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	D	33;33;34;33;33;33;33	ENSP00000416845:E33D;ENSP00000444995:E33D;ENSP00000438468:E34D;ENSP00000442625:E33D;ENSP00000375773:E33D;ENSP00000261458:E33D;ENSP00000355977:E33D	ENSP00000261458:E33D	E	+	3	2	2	HHAT	208602826	208602826	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.855000	0.55957	1.933000	0.56026	0.460000	0.39030	GAA		0.398	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1		61.770346	4	4	50	50	NM_018194		24	65.541697	65.541697	62	0.27907	0	0	0	1	0	24	62	0.27907	T	210536203	A	T	210536203	3	4	18	1	0	0	0	0	1	0	0	0	7089	69	3	5	203	5	HHAT	1	210536203	Missense_Mutation	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08	3632131	210536203	38714418	5	325											
TTN	7273	broad.mit.edu	37	2	179413443	179413443	+	Silent	SNP	A	A	C			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr2:179413443A>C	ENST00000591111.1	-	289	88211	c.87987T>G	c.(87985-87987)gcT>gcG	p.A29329A	TTN_ENST00000359218.5_Silent_p.A22030A|TTN_ENST00000460472.2_Silent_p.A21905A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.A22097A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A28402A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.A30970A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29329	Ig-like 134.				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)			TATGGATATCAGCCCGAAGGC	0.473																																						ENST00000589042.1											0			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						c.(92908-92910)gcT>gcG	titin						126	121	123					2																	179413443		1963	4147	6110	SO:0001819	synonymous_variant	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413443A>C	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.87987T>G	2.37:g.179413443A>C			TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.A22097A|TTN_ENST00000591111.1_Silent_p.A29329A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A28402A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.A22030A|TTN_ENST00000460472.2_Silent_p.A21905A|TTN-AS1_ENST00000592600.1_RNA	p.A30970A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93134	-			29329	Fibronectin type-III 126.	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	Silent	SNP	ENST00000591111.1	37	c.92910T>G																																																																																										0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		-9.066645	-9	-9	88	88	NM_133378		4	7.014795	7.014795	72	0.052632	0	0	0	1	0	4	72	0.052632	C	179413443	A	C	179413443	2	2	18	1	0	0	0	0	0	0	0	1	16732	175	7	5		5	TTN	2	179413443	Silent	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08		179413443	63785930	6	326											
EIF1B	10289	broad.mit.edu	37	3	40352412	40352412	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr3:40352412C>G	ENST00000232905.3	+	2	318	c.60C>G	c.(58-60)gaC>gaG	p.D20E	ENTPD3-AS1_ENST00000439293.1_RNA	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	20					regulation of translational initiation (GO:0006446)		poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTAAGGGTGACGACTTACTCC	0.388																																						ENST00000232905.3											0			central_nervous_system(1)|lung(3)	4						c.(58-60)gaC>gaG	eukaryotic translation initiation factor 1B						49	49	49					3																	40352412		2203	4300	6503	SO:0001583	missense	10289			regulation of translational initiation		protein binding|translation initiation factor activity	g.chr3:40352412C>G	BC006996	BC006996	CCDS2690.1	CCDS2690.1	3p22.1	2006-02-03			2006-02-03			ENSG00000114784	ENSG00000114784	ENSG00000114784	ENSG00000114784				30792	30792	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										7904817	7904817	Standard	Standard	NM_005875	NM_005875		Approved	GC20	uc003ckc.3	uc003ckc.3	O60739	O60739	OTTHUMG00000131388	OTTHUMG00000131388	ENST00000232905.3:c.60C>G	3.37:g.40352412C>G	ENSP00000232905:p.Asp20Glu			p.D20E	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	2	318	+			20		Q9UQF8	Missense_Mutation	SNP	ENST00000232905.3	37	c.60C>G	CCDS2690.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877734	0.51801	.	.	ENSG00000114784	ENST00000232905	T	0.28454	1.61	6.17	3.42	0.39159	6.17	3.42	0.39159	Translation initiation factor SUI1 (1);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.67569	2.06	0.49389	D	0.999785	B	0.15141	0.012	B	0.19666	0.026	T	0.06463	-1.0825	10	0.41790	T	0.15	.	8.1084	0.30900	0.0:0.7243:0.1315:0.1442	.	20	O60739	EIF1B_HUMAN	E	20	ENSP00000232905:D20E	ENSP00000232905:D20E	D	+	3	2	2	EIF1B	40327416	40327416	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.724000	0.54962	0.478000	0.27488	-0.140000	0.14226	GAC		0.388	EIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254177.1		56.805868	6	6	72	72	NM_005875		19	58.208172	58.208172	38	0.333333	0	0	0	1	0	19	38	0.333333	G	40352412	C	G	40352412	3	3	18	1	0	0	0	0	1	0	0	0	4994	535	19	5	66	5	EIF1B	3	40352412	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		40352412	157670018	7	327											
SETD2	29072	broad.mit.edu	37	3	47103828	47103828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr3:47103828G>A	ENST00000409792.3	-	14	6160	c.6118C>T	c.(6118-6120)Cga>Tga	p.R2040*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2040					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)		TCCCTTCCTCGTTCAGTTGCT	0.388			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0			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						c.(6118-6120)Cga>Tga	SET domain containing 2						199	202	201					3																	47103828		2203	4300	6503	SO:0001587	stop_gained	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.chr3:47103828G>A	AJ238403	AJ238403	CCDS2749.2	CCDS2749.2	3p21.31	2014-09-17			2014-09-17			ENSG00000181555	ENSG00000181555	ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	"Chromatin-modifying enzymes / K-methyltransferases"	18420	18420	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612778	612778						16118227, 11461154	16118227, 11461154	Standard	Standard	NM_014159	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	uc003cqs.3	Q9BYW2	Q9BYW2	OTTHUMG00000133514	OTTHUMG00000133514	ENST00000409792.3:c.6118C>T	3.37:g.47103828G>A	ENSP00000386759:p.Arg2040*		SETD2_ENST00000492397.1_5'UTR	p.R2040*	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6160	-		Acute lymphoblastic leukemia(5;0.0169)	2040		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.6118C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	44	10.715565	0.99455	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.77	3.83	0.44106	4.77	3.83	0.44106	.	0.000000	0.42420	D	0.000710	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0351	0.71738	0.0:0.0:0.8576:0.1424	.	.	.	.	X	2040	.	ENSP00000386759:R2040X	R	-	1	2	2	SETD2	47078832	47078832	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	4.345000	0.59360	2.639000	0.89480	0.455000	0.32223	CGA		0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		244.248357	-10	-10	192	192	NM_014159		81	244.683017	244.683017	100	0.447514	0	0	0	1	0	81	100	0.447514	A	47103828	G	A	47103828	4	1	18	1	0	0	0	0	0	1	0	0	14131	1153	40	1	1608	1	SETD2	3	47103828	Nonsense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	6751416	47103828	150918602	8	328											
CNOT6L	246175	ucsc.edu	37	4	78694260	78694260	+	Silent	SNP	G	G	A			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr4:78694260G>A	ENST00000504123.1	-	4	505	c.375C>T	c.(373-375)ttC>ttT	p.F125F	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Silent_p.F125F			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	125	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTGTAGCTGGAAGAGCCGAC	0.308																																																	0																	45	45	45					4																	78694260		1794	4069	5863	SO:0001819	synonymous_variant	246175							AL133112	AL133112	CCDS68731.1	CCDS68731.1	4q13.3	2014-06-17			2014-06-17				ENSG00000138767		ENSG00000138767				18042	18042	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_144571	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	uc003hks.3	Q96LI5	Q96LI5			ENST00000504123.1:c.375C>T	4.37:g.78694260G>A																		Q9UF92	Silent	SNP	ENST00000504123.1	37			.	.	.	.	.	.	.	.	.	.	G	9.612	1.131520	0.21041	.	.	ENSG00000138767	ENST00000515506	.	.	.	4.78	3.92	0.45320	4.78	3.92	0.45320	.	.	.	.	.	T	0.64170	0.2574	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63422	-0.6641	4	.	.	.	-4.4282	13.2156	0.59859	0.0786:0.0:0.9214:0.0	.	.	.	.	S	154	.	.	P	-	1	0	0	CNOT6L	78913284	78913284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.943000	0.49026	2.190000	0.69967	0.555000	0.69702	CCA		0.308	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			2	2	24	24			4			18							4	18		A	78694260	G	A	78694260	2	1	18	1	0	0	0	0	0	0	0	1	3623	1165	41	3		3	CNOT6L	4	78694260	Silent	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08		78694260	112460016	9	329											
COL25A1	84570	broad.mit.edu	37	4	109822282	109822282	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr4:109822282C>G	ENST00000399132.1	-	14	1357	c.827G>C	c.(826-828)gGa>gCa	p.G276A	COL25A1_ENST00000399127.1_Missense_Mutation_p.G272A|COL25A1_ENST00000399126.1_Missense_Mutation_p.G276A	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AACCTTAGGTCCTGGTATTCC	0.348																																						ENST00000399132.1											0			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(826-828)gGa>gCa	collagen, type XXV, alpha 1						101	96	98					4																	109822282		1857	4106	5963	SO:0001583	missense	84570				collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109822282C>G	AF293340	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			2013-01-16			ENSG00000188517	ENSG00000188517	ENSG00000188517	ENSG00000188517		"Collagens"	"Collagens"	18603	18603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610004	610004						11927537	11927537	Standard	Standard	NM_001256074	NM_001256074		Approved		uc003hze.2	uc003hze.2	Q9BXS0	Q9BXS0	OTTHUMG00000150039	OTTHUMG00000150039	ENST00000399132.1:c.827G>C	4.37:g.109822282C>G	ENSP00000382083:p.Gly276Ala		COL25A1_ENST00000399127.1_Missense_Mutation_p.G272A|COL25A1_ENST00000399126.1_Missense_Mutation_p.G276A	p.G276A	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	14	1357	-		Hepatocellular(203;0.217)	276	Collagen-like 3.		Missense_Mutation	SNP	ENST00000399132.1	37	c.827G>C	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015437	0.54468	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99523	-6.08;-4.57;-6.08	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	M	0.93420	3.415	0.48288	D	0.999626	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.981	D	0.97845	1.0271	9	.	.	.	0.0018	16.5147	0.84296	0.0:1.0:0.0:0.0	.	276;276	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	A	276;278;272;272;276;206	ENSP00000382083:G276A;ENSP00000382078:G272A;ENSP00000382077:G276A	.	G	-	2	0	0	COL25A1	110041731	110041731	0.999000	0.42202	0.959000	0.39883	0.870000	0.49936	4.478000	0.60230	2.685000	0.91497	0.591000	0.81541	GGA		0.348	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2		44.037933	5	5	78	78	NM_032518		14	44.948395	44.948395	27	0.341463	0	0	0	1	0	14	27	0.341463	G	109822282	C	G	109822282	3	3	18	1	0	0	0	0	1	0	0	0	3684	855	30	5	1321	5	COL25A1	4	109822282	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08	31128022	109822282	81331994	10	330											
MARCH6	10299	broad.mit.edu	37	5	10426521	10426521	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr5:10426521G>A	ENST00000274140.5	+	24	2525	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q	MARCH6_ENST00000510792.1_Missense_Mutation_p.R496Q|MARCH6_ENST00000503788.1_Missense_Mutation_p.R693Q|MARCH6_ENST00000449913.2_Missense_Mutation_p.R750Q	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	798					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AATGGCATCCGGAACATTGAC	0.408																																						ENST00000274140.5											0			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2392-2394)cGg>cAg	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase						394	339	358					5																	10426521		2203	4300	6503	SO:0001583	missense	10299			protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10426521G>A	AB011169	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495	ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	30550	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613297	613297	"membrane-associated ring finger (C3HC4) 6"		"membrane-associated ring finger (C3HC4) 6"			14722266	14722266	Standard	Standard	NM_001270660	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	uc003jet.2	O60337	O60337	OTTHUMG00000162027	OTTHUMG00000162027	ENST00000274140.5:c.2393G>A	5.37:g.10426521G>A	ENSP00000274140:p.Arg798Gln		MARCH6_ENST00000510792.1_Missense_Mutation_p.R496Q|MARCH6_ENST00000503788.1_Missense_Mutation_p.R693Q|MARCH6_ENST00000449913.2_Missense_Mutation_p.R750Q	p.R798Q	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN			24	2525	+			798		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2393G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783881	0.90282	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.44482	1.94;0.93;1.94;0.92	5.63	4.77	0.60923	5.63	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.76494	0.992;0.984;0.999;0.992	P;B;P;B	0.62649	0.803;0.426;0.905;0.44	T	0.59573	-0.7429	10	0.24483	T	0.36	-27.7943	14.9409	0.70992	0.0686:0.0:0.9314:0.0	.	693;750;378;798	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	Q	750;693;798;496	ENSP00000414643:R750Q;ENSP00000425930:R693Q;ENSP00000274140:R798Q;ENSP00000424512:R496Q	ENSP00000274140:R798Q	R	+	2	0	0	MARCH6	10479521	10479521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.418000	0.97395	1.538000	0.49270	0.655000	0.94253	CGG		0.408	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2		180.157428	1	1	193	193	NM_005885		60	183.395805	183.395805	110	0.352941	0	0	0	1	0	60	110	0.352941	A	10426521	G	A	10426521	3	1	18	1	0	0	0	0	1	0	0	0	9305	1116	39	1	2487	1	MARCH6	5	10426521	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08		10426521	170488739	11	331											
RSPH4A	345895	broad.mit.edu	37	6	116944015	116944015	+	Silent	SNP	A	A	G			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr6:116944015A>G	ENST00000229554.5	+	2	908	c.771A>G	c.(769-771)caA>caG	p.Q257Q	RSPH4A_ENST00000368580.4_Silent_p.Q257Q|RSPH4A_ENST00000368581.4_Silent_p.Q257Q	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	257					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATATTAGCCAAGATGTGAAGA	0.323									Kartagener syndrome																													ENST00000229554.5											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(769-771)caA>caG	radial spoke head 4 homolog A (Chlamydomonas)						99	107	105					6																	116944015		2203	4299	6502	SO:0001819	synonymous_variant	345895	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116944015A>G			CCDS34521.1, CCDS55051.1	CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834	ENSG00000111834	ENSG00000111834				21558	21558	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612647	612647	"radial spokehead-like 3"	RSHL3	"radial spokehead-like 3"	RSHL3		19200523	19200523	Standard	Standard	NM_001010892	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	uc003pxe.2	Q5TD94	Q5TD94	OTTHUMG00000015444	OTTHUMG00000015444	ENST00000229554.5:c.771A>G	6.37:g.116944015A>G			RSPH4A_ENST00000368581.4_Silent_p.Q257Q|RSPH4A_ENST00000368580.4_Silent_p.Q257Q	p.Q257Q	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			2	908	+			257		B4DSI1|Q3KP24|Q5TD95	Silent	SNP	ENST00000229554.5	37	c.771A>G	CCDS34521.1																																																																																									0.323	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1		183.804411	28	28	203	203	NM_001010892		64	193.502198	193.502198	163	0.281938	0	0	0	1	0	64	163	0.281938	G	116944015	A	G	116944015	2	3	18	1	0	0	0	0	0	0	0	1	13706	69	3	4		4	RSPH4A	6	116944015	Silent	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08		116944015	54171052	12	332											
NBN	4683	broad.mit.edu	37	8	90982757	90982757	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr8:90982757A>G	ENST00000265433.3	-	7	885	c.731T>C	c.(730-732)tTt>tCt	p.F244S	NBN_ENST00000409330.1_Missense_Mutation_p.F162S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	244	Interaction with MTOR, MAPKAP1 and RICTOR.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CCCACCTCCAAAGACAACTGC	0.343								Homologous recombination																														ENST00000265433.3											0			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(730-732)tTt>tCt	nibrin						72	70	71					8																	90982757		2203	4300	6503	SO:0001583	missense	4683			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90982757A>G	AF058696	AF058696	CCDS6249.1	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320	ENSG00000104320	ENSG00000104320				7652	7652	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602667	602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	9590181, 9590180	Standard	Standard	XM_005250923	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	uc003yej.1	O60934	O60934	OTTHUMG00000153546	OTTHUMG00000153546	ENST00000265433.3:c.731T>C	8.37:g.90982757A>G	ENSP00000265433:p.Phe244Ser		NBN_ENST00000409330.1_Missense_Mutation_p.F162S	p.F244S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		7	885	-			244		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.731T>C	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256243	0.39896	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000519426;ENST00000517772	T;T;T;T	0.73681	0.29;0.25;-0.77;-0.49	5.6	5.6	0.85130	5.6	5.6	0.85130	.	0.180545	0.52532	D	0.000070	T	0.70518	0.3233	L	0.39633	1.23	0.39461	D	0.967569	P;P	0.42357	0.777;0.777	B;B	0.43575	0.424;0.424	T	0.75800	-0.3190	10	0.72032	D	0.01	-24.069	14.0228	0.64568	1.0:0.0:0.0:0.0	.	244;244	A6H8Y5;O60934	.;NBN_HUMAN	S	244;162;244;156;162	ENSP00000265433:F244S;ENSP00000386924:F162S;ENSP00000430983:F156S;ENSP00000428717:F162S	ENSP00000265433:F244S	F	-	2	0	0	NBN	91051933	91051933	1.000000	0.71417	0.976000	0.42696	0.657000	0.38888	5.857000	0.69525	2.123000	0.65237	0.533000	0.62120	TTT		0.343	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3		50.307424	5	5	92	92	NM_001024688		21	60.970984	60.970984	93	0.184211	0	0	0	1	0	21	93	0.184211	G	90982757	A	G	90982757	3	3	18	1	0	0	0	0	1	0	0	0	10191	14	1	4	1573	4	NBN	8	90982757	Missense_Mutation	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08		90982757	55381265	13	333											
KCNS2	3788	broad.mit.edu	37	8	99440584	99440584	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr8:99440584G>A	ENST00000287042.4	+	2	727	c.377G>A	c.(376-378)cGc>cAc	p.R126H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R126H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	126					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R126H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TACCATGGCCGCAAAGTAGAG	0.552																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4											1	Substitution - Missense(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(376-378)cGc>cAc	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2						85	91	89					8																	99440584		2203	4300	6503	SO:0001583	missense	3788				voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440584G>A	AB032970	AB032970	CCDS6279.1	CCDS6279.1	8q22	2011-07-05			2011-07-05			ENSG00000156486	ENSG00000156486	ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	6301	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602906	602906						9305895, 16382104	9305895, 16382104	Standard	Standard	NM_020697	NM_020697		Approved	Kv9.2	uc003yin.3	uc003yin.3	Q9ULS6	Q9ULS6	OTTHUMG00000044337	OTTHUMG00000044337	ENST00000287042.4:c.377G>A	8.37:g.99440584G>A	ENSP00000287042:p.Arg126His		KCNS2_ENST00000521839.1_Missense_Mutation_p.R126H	p.R126H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	727	+	Breast(36;2.4e-06)		126		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.377G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054137	0.75960	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.46451	0.87;0.87	5.31	5.31	0.75309	5.31	5.31	0.75309	BTB/POZ-like (1);BTB/POZ fold (1);	0.136406	0.47093	D	0.000244	T	0.59445	0.2194	M	0.67397	2.05	0.44798	D	0.997809	D	0.76494	0.999	D	0.73380	0.98	T	0.56408	-0.7984	10	0.33141	T	0.24	.	12.3465	0.55124	0.0775:0.0:0.9225:0.0	.	126	Q9ULS6	KCNS2_HUMAN	H	126	ENSP00000287042:R126H;ENSP00000430712:R126H	ENSP00000287042:R126H	R	+	2	0	0	KCNS2	99509760	99509760	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.470000	0.83445	0.563000	0.77884	CGC		0.552	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1		-17.127778	4	4	57	57	NM_020697		4	7.88764	7.88764	104	0.037037	0	0	0	1	0	4	104	0.037037	A	99440584	G	A	99440584	3	1	18	1	0	0	0	0	1	0	0	0	8089	1087	38	1	379	1	KCNS2	8	99440584	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	8457827	99440584	46923438	14	334											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		163.259000	-7	-7	105	105	NM_002072		50	163.554906	163.554906	39	0.561798	0	0	0	1	0	50	39	0.561798	A	80409488	T	A	80409488	3	1	18	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EM-01A-11D-A39W-08		80409488	60803943	15	335											
NLRP14	338323	broad.mit.edu	37	11	7059980	7059980	+	Missense_Mutation	SNP	C	C	T	rs146049510	byFrequency	TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr11:7059980C>T	ENST00000299481.4	+	2	509	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	55	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.		R -> E (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:16931801}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAAGGCCAGGCGGGAGGACCT	0.448													C|||	8	0.00159744	0.0053	0.0014	5008	,	,		18936	0		0	False		,,,				2504	0					ENST00000299481.4											0			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(163-165)Cgg>Tgg	NLR family, pyrin domain containing 14	C	TRP/ARG	15,4387	23.3+/-48.9	0,15,2186	58	63	61		163	-1.4	0	11	dbSNP_134	61	0,8592		0,0,4296	yes	missense	NLRP14	NM_176822.3	101	0,15,6482	TT,TC,CC		0.0,0.3408,0.1154	probably-damaging	55/1094	7059980	15,12979	2201	4296	6497	SO:0001583	missense	338323			cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7059980C>T	BK001107	BK001107	CCDS7776.1	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	"Nucleotide-binding domain and leucine rich repeat containing"	22939	22939	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	12563287	Standard	Standard	NM_176822	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	uc001mfb.1	Q86W24	Q86W24			ENST00000299481.4:c.163C>T	11.37:g.7059980C>T	ENSP00000299481:p.Arg55Trp			p.R55W	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	509	+			55	DAPIN.	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.163C>T	CCDS7776.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	15.43	2.832721	0.50845	0.003408	0.0	ENSG00000158077	ENST00000299481	T	0.54675	0.56	4.22	-1.36	0.09085	4.22	-1.36	0.09085	Pyrin (2);DEATH-like (2);	0.529188	0.15927	N	0.237859	T	0.48333	0.1494	L	0.60067	1.865	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.43669	-0.9377	10	0.49607	T	0.09	.	0.7116	0.00925	0.3593:0.2971:0.1447:0.1989	.	55	Q86W24	NAL14_HUMAN	W	55	ENSP00000299481:R55W	ENSP00000299481:R55W	R	+	1	2	2	NLRP14	7016556	7016556	0.000000	0.05858	0.000000	0.03702	0.948000	0.59901	-0.628000	0.05515	-0.224000	0.09928	0.655000	0.94253	CGG		0.448	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1		33.989188	20	20	66	66	NM_176822		12	34.637857	34.637857	22	0.352941	0	0	0	1	0	12	22	0.352941	T	7059980	C	T	7059980	3	4	18	1	0	0	0	0	1	0	0	0	10476	759	27	1	165	1	NLRP14	11	7059980	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		7059980	127946536	16	336											
VWF	7450	broad.mit.edu	37	12	6128239	6128239	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr12:6128239G>C	ENST00000261405.5	-	28	4599	c.4345C>G	c.(4345-4347)Caa>Gaa	p.Q1449E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1449	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGTCCCTTTGCTGCTCCAGC	0.612																																						ENST00000261405.5											0			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(4345-4347)Caa>Gaa	von Willebrand factor						68	71	70					12																	6128239		2203	4300	6503	SO:0001583	missense	7450			blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128239G>C			CCDS8539.1	CCDS8539.1	12p13.3	2014-09-17			2014-09-17			ENSG00000110799	ENSG00000110799	ENSG00000110799	ENSG00000110799		"Endogenous ligands"	"Endogenous ligands"	12726	12726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613160	613160		F8VWF		F8VWF		2251280	2251280	Standard	Standard	NM_000552	NM_000552		Approved		uc001qnn.1	uc001qnn.1	P04275	P04275	OTTHUMG00000168265	OTTHUMG00000168265	ENST00000261405.5:c.4345C>G	12.37:g.6128239G>C	ENSP00000261405:p.Gln1449Glu			p.Q1449E	NM_000552.3	NP_000543	P04275	VWF_HUMAN			28	4599	-			1449	VWFA 1; binding site for platelet glycoprotein Ib.	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4345C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	3.253	-0.152788	0.06585	.	.	ENSG00000110799	ENST00000261405	D	0.83163	-1.69	4.35	-1.2	0.09554	4.35	-1.2	0.09554	von Willebrand factor, type A (3);	0.616955	0.13134	N	0.411235	T	0.73426	0.3585	L	0.43152	1.355	0.22446	N	0.999094	B	0.18166	0.026	B	0.20955	0.032	T	0.60777	-0.7196	10	0.38643	T	0.18	.	8.3008	0.32012	0.0867:0.0:0.4033:0.51	.	1449	P04275	VWF_HUMAN	E	1449	ENSP00000261405:Q1449E	ENSP00000261405:Q1449E	Q	-	1	0	0	VWF	5998500	5998500	0.027000	0.19231	0.616000	0.29078	0.132000	0.20833	0.643000	0.24750	0.010000	0.14839	-0.378000	0.06908	CAA		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		69.240949	-20	-20	54	54	NM_000552		22	69.574499	69.574499	31	0.415094	0	0	0	1	0	22	31	0.415094	C	6128239	G	C	6128239	3	2	18	1	0	0	0	0	1	0	0	0	17243	1328	46	5	4196	5	VWF	12	6128239	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08		6128239	127723656	17	337											
DLGAP5	9787	ucsc.edu	37	14	55629724	55629724	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr14:55629724T>C	ENST00000247191.2	-	13	1834	c.1618A>G	c.(1618-1620)Aat>Gat	p.N540D	DLGAP5_ENST00000395425.2_Missense_Mutation_p.N540D	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	540					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGATTCATATTATTATTGACT	0.289																																																	0																	91	92	91					14																	55629724		2203	4293	6496	SO:0001583	missense	9787							D13633	D13633	CCDS9723.1, CCDS53897.1	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787	ENSG00000126787	ENSG00000126787				16864	16864	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"discs, large homolog 7 (Drosophila)"	DLG7	"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	7584026, 7584028	Standard	Standard	NM_014750	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	uc001xbs.3	Q15398	Q15398	OTTHUMG00000140310	OTTHUMG00000140310	ENST00000247191.2:c.1618A>G	14.37:g.55629724T>C	ENSP00000247191:p.Asn540Asp																	A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37		CCDS9723.1	.	.	.	.	.	.	.	.	.	.	T	1.376	-0.584627	0.03827	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.17054	2.3;2.3	4.83	3.59	0.41128	4.83	3.59	0.41128	.	0.537099	0.17005	N	0.190767	T	0.09335	0.0230	N	0.22421	0.69	0.09310	N	1	B;B	0.19583	0.037;0.007	B;B	0.21151	0.033;0.015	T	0.31558	-0.9939	10	0.13853	T	0.58	.	5.5034	0.16840	0.1647:0.0:0.2815:0.5538	.	540;540	A8MTM6;Q15398	.;DLGP5_HUMAN	D	540	ENSP00000378815:N540D;ENSP00000247191:N540D	ENSP00000247191:N540D	N	-	1	0	0	DLGAP5	54699477	54699477	0.001000	0.12720	0.089000	0.20774	0.348000	0.29142	0.369000	0.20416	1.951000	0.56629	0.477000	0.44152	AAT		0.289	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2			-12	-12	53	53	NM_014750		4			32							4	32		C	55629724	T	C	55629724	3	2	18	1	0	0	0	0	1	0	0	0	4563	1754	61	4	1045	4	DLGAP5	14	55629724	Missense_Mutation	SNP	T	TCGA-V4-A9EM-01A-11D-A39W-08		55629724	51719816	18	338											
ARHGAP17	55114	broad.mit.edu	37	16	24946929	24946929	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr16:24946929C>G	ENST00000289968.6	-	18	1825	c.1756G>C	c.(1756-1758)Gct>Cct	p.A586P	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.A508P|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	586	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTGGCACAGCTGCAGATACA	0.517																																						ENST00000289968.6											0			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(1756-1758)Gct>Cct	Rho GTPase activating protein 17						84	79	80					16																	24946929		2197	4300	6497	SO:0001583	missense	55114			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24946929C>G	AJ306731	AJ306731	CCDS32408.1, CCDS32409.1	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29			2011-06-29				ENSG00000140750		ENSG00000140750		"Rho GTPase activating proteins"	"Rho GTPase activating proteins"	18239	18239	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608293	608293						10967100, 11431473	10967100, 11431473	Standard	Standard	XM_005255413	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	uc002dnb.3	Q68EM7	Q68EM7			ENST00000289968.6:c.1756G>C	16.37:g.24946929C>G	ENSP00000289968:p.Ala586Pro		ARHGAP17_ENST00000303665.5_Missense_Mutation_p.A508P|ARHGAP17_ENST00000441763.2_3'UTR	p.A586P	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	18	1825	-			586	Pro-rich.	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1756G>C	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	9.027	0.986398	0.18889	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.21734	1.99;2.01	5.19	-2.71	0.05986	5.19	-2.71	0.05986	.	0.505510	0.16645	N	0.205470	T	0.17874	0.0429	N	0.12746	0.255	0.27690	N	0.94616	D;B;B;B	0.63046	0.992;0.006;0.0;0.001	D;B;B;B	0.73708	0.981;0.003;0.002;0.001	T	0.19451	-1.0305	10	0.25751	T	0.34	.	4.7834	0.13213	0.1104:0.334:0.4447:0.1109	.	508;586;119;419	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	P	586;508;586	ENSP00000289968:A586P;ENSP00000303130:A508P	ENSP00000289968:A586P	A	-	1	0	0	ARHGAP17	24854430	24854430	0.005000	0.15991	0.003000	0.11579	0.016000	0.09150	-0.236000	0.09003	-0.206000	0.10203	-0.176000	0.13171	GCT		0.517	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3		64.495174	-9	-9	51	51	NM_018054		20	64.616073	64.616073	25	0.444444	0	0	0	1	0	20	25	0.444444	G	24946929	C	G	24946929	3	3	18	1	0	0	0	0	1	0	0	0	867	797	28	5	901	5	ARHGAP17	16	24946929	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		24946929	65407824	19	339											
ACD	65057	broad.mit.edu	37	16	67692869	67692869	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr16:67692869G>C	ENST00000393919.4	-	7	1129	c.865C>G	c.(865-867)Cct>Gct	p.P289A	PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.P286A|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	289	Interaction with POT1.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGGTGACAGGGGGTGCTGTG	0.612																																						ENST00000219251.8											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(856-858)Cct>Gct	adrenocortical dysplasia homolog (mouse)						72	71	72					16																	67692869		2198	4300	6498	SO:0001583	missense	65057			intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67692869G>C	AF070535	AF070535	CCDS10842.1, CCDS42181.1	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			2012-08-23			ENSG00000102977	ENSG00000102977	ENSG00000102977	ENSG00000102977				25070	25070	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	609377	609377						15231715, 15181449	15231715, 15181449	Standard	Standard	NM_001082486	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	uc002etq.4	Q96AP0	Q96AP0	OTTHUMG00000137547	OTTHUMG00000137547	ENST00000393919.4:c.865C>G	16.37:g.67692869G>C	ENSP00000377496:p.Pro289Ala		ACD_ENST00000393919.4_Missense_Mutation_p.P289A	p.P286A	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	7	1187	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	289	Interaction with POT1.	Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.856C>G	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042842	0.19748	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.35421	1.31;1.31	4.96	-0.708	0.11241	4.96	-0.708	0.11241	.	0.507828	0.19458	N	0.113779	T	0.16896	0.0406	N	0.20986	0.625	0.09310	N	1	B;B	0.13594	0.005;0.008	B;B	0.14578	0.005;0.011	T	0.11446	-1.0587	10	0.27785	T	0.31	-1.3785	1.3808	0.02230	0.1698:0.1432:0.3928:0.2942	.	289;286	Q96AP0;Q96AP0-2	ACD_HUMAN;.	A	286;289	ENSP00000219251:P286A;ENSP00000377496:P289A	ENSP00000219251:P286A	P	-	1	0	0	ACD	66250370	66250370	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.090000	0.15025	-0.390000	0.07774	-0.467000	0.05162	CCT		0.612	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1		113.707483	-31	-31	93	93	NM_022914		39	114.073865	114.073865	51	0.433333	0	0	0	1	0	39	51	0.433333	C	67692869	G	C	67692869	3	2	18	1	0	0	0	0	1	0	0	0	135	1232	43	5	793	5	ACD	16	67692869	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	42745940	67692869	22661884	20	340											
OR3A1	4994	broad.mit.edu	37	17	3195504	3195504	+	Nonsense_Mutation	SNP	G	G	A	rs188930692		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr17:3195504G>A	ENST00000323404.1	-	1	372	c.373C>T	c.(373-375)Cga>Tga	p.R125*	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	125			R -> Q (in dbSNP:rs703903). {ECO:0000269|PubMed:10673334, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8004088, ECO:0000269|PubMed:8647456}.		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|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)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCCAGGAATCGGTCATAGGCC	0.592													.|||	1	0.000199681	0	0	5008	,	,		20502	0.001		0	False		,,,				2504	0				GBM(20;287 516 18743 28660 36594)	ENST00000323404.1											0			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(373-375)Cga>Tga	olfactory receptor, family 3, subfamily A, member 1						94	86	89					17																	3195504		2203	4300	6503	SO:0001587	stop_gained	4994			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195504G>A	X80391	X80391	CCDS11023.1	CCDS11023.1	17p13.3	2012-08-09			2012-08-09			ENSG00000180090	ENSG00000180090	ENSG00000180090	ENSG00000180090		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8282	8282	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										8921386, 8647456	8921386, 8647456	Standard	Standard	NM_002550	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	uc002fvh.1	P47881	P47881	OTTHUMG00000090642	OTTHUMG00000090642	ENST00000323404.1:c.373C>T	17.37:g.3195504G>A	ENSP00000313803:p.Arg125*		RP11-64J4.2_ENST00000573491.1_RNA	p.R125*	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	372	-			125		Q4VB06|Q6IFM4	Nonsense_Mutation	SNP	ENST00000323404.1	37	c.373C>T	CCDS11023.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	29.8	5.040067	0.93630	.	.	ENSG00000180090	ENST00000323404	.	.	.	5.31	4.33	0.51752	5.31	4.33	0.51752	.	0.000000	0.42964	D	0.000626	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5448	14.167	0.65483	0.0:0.0:0.849:0.1509	.	.	.	.	X	125	.	ENSP00000313803:R125X	R	-	1	2	2	OR3A1	3142254	3142254	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.771000	0.38542	1.445000	0.47624	-0.188000	0.12872	CGA		0.592	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2		-7.126452	18	18	91	91			3	6.31828	6.31828	59	0.048387	0	0	0	1	0	3	59	0.048387	A	3195504	G	A	3195504	4	1	18	1	0	0	0	0	0	1	0	0	11037	1124	39	1	578	1	OR3A1	17	3195504	Nonsense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08		3195504	77999706	21	341											
SFRS2	6427	broad.mit.edu	37	17	74732946	74732969	+	In_Frame_Del	DEL	GTGTGAGTCCGGGGGGCGGCCGTA	GTGTGAGTCCGGGGGGCGGCCGTA	-			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr17:74732946_74732969delGTGTGAGTCCGGGGGGCGGCCGTA	ENST00000392485.2	-	1	446_469	c.274_297delTACGGCCGCCCCCCGGACTCACAC	c.(274-297)tacggccgccccccggactcacacdel	p.YGRPPDSH92del	MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSH92del|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSH92del|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000591864.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.P95H(75)|p.P95L(48)|p.P95R(29)|p.P95_R102del(21)|p.?(6)|p.P95?(4)|p.P95_D97del(2)|p.P95A(1)|p.G93>DR(1)|p.P95T(1)|p.R94_P95insR(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGCGGCTGTGGTGTGAGTCCGGGGGGCGGCCGTAGCGCGCCATT	0.732			Mis		"MDS, CLL"																																	ENST00000392485.2		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	189	Substitution - Missense(158)|Deletion - In frame(23)|Unknown(6)|Complex - insertion inframe(1)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(189)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(274-297)tacggccgccccccggactcacacdel	serine/arginine-rich splicing factor 2																																			SO:0001651	inframe_deletion	6427			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732946_74732969delGTGTGAGTCCGGGGGGCGGCCGTA	M90104	M90104	CCDS11749.1	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	10783	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"SR splicing factor 2"	"SR splicing factor 2"	600813	600813	"splicing factor, arginine/serine-rich 2"	SFRS2	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	8530103, 20516191	Standard	Standard	NM_003016	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	uc002jsv.3	Q01130	Q01130			ENST00000392485.2:c.274_297delTACGGCCGCCCCCCGGACTCACAC	17.37:g.74732946_74732969delGTGTGAGTCCGGGGGGCGGCCGTA	ENSP00000376276:p.Tyr92_His99del		MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSH92del|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSH92del|RP11-318A15.7_ENST00000587459.1_Intron	p.YGRPPDSH92del	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			1	446_469	-			92	RRM.	B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.274_297delTACGGCCGCCCCCCGGACTCACAC	CCDS11749.1																																																																																									0.732	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	.	.	-5	-5	29	29	NM_003016		10			27	0.27						10	27	0.27	-	74732969	GTGTGAGTCCGGGGGGCGGCCGTA	-	74732946	7	5	18	1	0	1	0	1	0	0	0	0	14175	1252	44	0	376	0	SFRS2	17	74732946	In_Frame_Del	DEL	GTGTGAGTCCGGGGGGCGGCCGTA	TCGA-V4-A9EM-01A-11D-A39W-08	71537442	74732946	6462264	22	342											
MAP1S	55201	broad.mit.edu	37	19	17835950	17835951	+	Frame_Shift_Del	DEL	AG	AG	-	rs138091544		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr19:17835950_17835951delAG	ENST00000324096.4	+	4	547_548	c.396_397delAG	c.(394-399)acagggfs	p.G134fs	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Frame_Shift_Del_p.G108fs	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	134	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.G133W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCTACAGACAGGGGGCTTCTC	0.619																																						ENST00000324096.4											1	Substitution - Missense(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(394-399)acagggfs	microtubule-associated protein 1S																																			SO:0001589	frameshift_variant	55201			apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17835950_17835951delAG	BC067115	BC067115	CCDS32954.1	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479		ENSG00000130479				15715	15715	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607573	607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	11827465, 15528209, 16297881, 14627543	Standard	Standard	NM_018174	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	uc002nhe.1	Q66K74	Q66K74			ENST00000324096.4:c.396_397delAG	19.37:g.17835950_17835951delAG	ENSP00000325313:p.Gly134fs		MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Frame_Shift_Del_p.G108fs	p.G134fs	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			4	547_548	+			134	Necessary for the microtubule-organizing center localization.	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Frame_Shift_Del	DEL	ENST00000324096.4	37	c.396_397delAG	CCDS32954.1																																																																																									0.619	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	.	.	-2	-2	99	99	NM_018174		21			92	0.19						21	92	0.19	-	17835951	AG	-	17835950	7	5	18	1	0	1	0	1	0	0	0	0	9234	175	7	0	410	0	MAP1S	19	17835950	Frame_Shift_Del	DEL	AG	TCGA-V4-A9EM-01A-11D-A39W-08		17835950	41293033	23	343											
RHPN2	85415	broad.mit.edu	37	19	33517480	33517480	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr19:33517480A>T	ENST00000254260.3	-	3	279	c.244T>A	c.(244-246)Tca>Aca	p.S82T	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	82					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGCAGGTCTGAGTTGACGAAG	0.552																																						ENST00000254260.3											0			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(244-246)Tca>Aca	rhophilin, Rho GTPase binding protein 2						104	99	100					19																	33517480		2203	4297	6500	SO:0001583	missense	85415			signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33517480A>T	AF268032	AF268032	CCDS12427.1	CCDS12427.1	19q13.12	2008-02-05			2008-02-05				ENSG00000131941		ENSG00000131941				19974	19974	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12221077	12221077	Standard	Standard	NM_033103	NM_033103		Approved		uc002nuf.3	uc002nuf.3	Q8IUC4	Q8IUC4			ENST00000254260.3:c.244T>A	19.37:g.33517480A>T	ENSP00000254260:p.Ser82Thr		RHPN2_ENST00000400226.4_5'UTR	p.S82T	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			3	279	-	Esophageal squamous(110;0.137)		82		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.244T>A	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785321	0.70337	.	.	ENSG00000131941	ENST00000254260	T	0.17691	2.26	3.88	3.88	0.44766	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.79475	2.455	0.80722	D	1	P	0.42620	0.785	P	0.45037	0.467	T	0.17077	-1.0381	10	0.87932	D	0	2.0166	12.8517	0.57860	1.0:0.0:0.0:0.0	.	82	Q8IUC4	RHPN2_HUMAN	T	82	ENSP00000254260:S82T	ENSP00000254260:S82T	S	-	1	0	0	RHPN2	38209320	38209320	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.842000	0.75379	1.761000	0.52028	0.455000	0.32223	TCA		0.552	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2		225.999445	-61	-61	173	173	NM_033103		76	226.706256	226.706256	100	0.431818	0	0	0	1	0	76	100	0.431818	T	33517480	A	T	33517480	3	4	18	1	0	0	0	0	1	0	0	0	13351	304	11	5	1868	5	RHPN2	19	33517480	Missense_Mutation	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08	15681530	33517480	25611503	24	344											
MYBPC2	4606	broad.mit.edu	37	19	50939080	50939080	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	g.chr19:50939080G>C	ENST00000357701.5	+	3	208	c.157G>C	c.(157-159)Gtt>Ctt	p.V53L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	53	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.V53I(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCCCACCGGCGTTTTCCTGAA	0.662																																						ENST00000357701.5											1	Substitution - Missense(1)	large_intestine(1)	breast(1)	1						c.(157-159)Gtt>Ctt	myosin binding protein C, fast type						21	23	22					19																	50939080		1881	4102	5983	SO:0001583	missense	4606			cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50939080G>C			CCDS46152.1	CCDS46152.1	19q13.33	2013-02-11	2001-11-28		2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967	ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	7550	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	"fast-type muscle myosin-binding-protein C"	160793	160793	"myosin-binding protein C, fast-type"		"myosin-binding protein C, fast-type"			8375400	8375400	Standard	Standard	NM_004533	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	uc002psf.2	Q14324	Q14324			ENST00000357701.5:c.157G>C	19.37:g.50939080G>C	ENSP00000350332:p.Val53Leu			p.V53L	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	3	208	+		all_neural(266;0.057)	53	Ig-like C2-type 1.	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.157G>C	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.065034	0.00382	.	.	ENSG00000086967	ENST00000357701	T	0.68624	-0.34	4.6	-9.19	0.00685	4.6	-9.19	0.00685	Immunoglobulin-like fold (1);	.	.	.	.	T	0.21062	0.0507	N	0.00419	-1.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34800	-0.9814	9	0.02654	T	1	.	8.5286	0.33319	0.1909:0.4591:0.35:0.0	.	53	Q14324	MYPC2_HUMAN	L	53	ENSP00000350332:V53L	ENSP00000350332:V53L	V	+	1	0	0	MYBPC2	55630892	55630892	0.000000	0.05858	0.003000	0.11579	0.064000	0.16182	-2.122000	0.01321	-1.955000	0.01023	-0.483000	0.04790	GTT		0.662	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1		25.701770	0	0	19	19	NM_004533		8	25.764061	25.764061	6	0.571429	0	0	0	1	0	8	6	0.571429	C	50939080	G	C	50939080	3	2	18	1	0	0	0	0	1	0	0	0	10012	1145	40	5	167	5	MYBPC2	19	50939080	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	17421600	50939080	8189903	25	345											
F5	2153	broad.mit.edu	37	1	169509628	169509628	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr1:169509628A>G	ENST00000367797.3	-	13	4901	c.4700T>C	c.(4699-4701)aTt>aCt	p.I1567T	F5_ENST00000367796.3_Missense_Mutation_p.I1572T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1567	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCATGCTGCAATGTTGTCAGG	0.393																																						ENST00000367796.3											0			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4714-4716)aTt>aCt	coagulation factor V (proaccelerin, labile factor)						117	113	115					1																	169509628		2203	4300	6503	SO:0001583	missense	2153			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169509628A>G	M14335	M14335	CCDS1281.1	CCDS1281.1	1q23	2012-10-02			2012-10-02			ENSG00000198734	ENSG00000198734	ENSG00000198734	ENSG00000198734				3542	3542	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612309	612309								Standard	Standard	NM_000130	NM_000130		Approved		uc001ggg.1	uc001ggg.1	P12259	P12259	OTTHUMG00000034595	OTTHUMG00000034595	ENST00000367797.3:c.4700T>C	1.37:g.169509628A>G	ENSP00000356771:p.Ile1567Thr		F5_ENST00000367797.3_Missense_Mutation_p.I1567T	p.I1572T			P12259	FA5_HUMAN			13	4916	-	all_hematologic(923;0.208)		1567	B.	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4715T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924707	0.73213	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.56103	0.48;0.48	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.198500	0.45361	D	0.000366	T	0.43787	0.1263	M	0.83312	2.635	0.31018	N	0.718466	P	0.41080	0.737	B	0.42522	0.39	T	0.52653	-0.8547	9	0.22706	T	0.39	-22.3938	10.6744	0.45776	0.929:0.0:0.071:0.0	.	1567	P12259	FA5_HUMAN	T	1567;1572	ENSP00000356771:I1567T;ENSP00000356770:I1572T	ENSP00000356770:I1572T	I	-	2	0	0	F5	167776252	167776252	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.035000	0.70940	2.273000	0.75805	0.482000	0.46254	ATT		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		122.937837	25	25	107	107	NM_000130		35	123.4812	123.4812	23	0.603448	0	0	0	1	0	35	23	0.603448	G	169509628	A	G	169509628	3	3	19	1	0	0	0	0	1	0	0	0	5348	101	4	4	2026	4	F5	1	169509628	Missense_Mutation	SNP	A	TCGA-V4-A9EO-01A-12D-A39W-08		169509628	79740993	1	346											
POU3F3	5455	broad.mit.edu	37	2	105472295	105472295	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:105472295C>T	ENST00000361360.2	+	1	327	c.327C>T	c.(325-327)gcC>gcT	p.A109A	RP11-13J10.1_ENST00000598623.1_RNA|AC018730.1_ENST00000447876.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	109	Ala-rich.|Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccgccgccgccgctgccgccg	0.781																																						ENST00000361360.2											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(325-327)gcC>gcT	POU class 3 homeobox 3						2	3	3					2																	105472295		374	1047	1421	SO:0001819	synonymous_variant	5455			metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472295C>T			CCDS33265.1	CCDS33265.1	2q12.1	2011-06-20	2007-07-13		2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914	ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	"Homeoboxes / POU class"	9216	9216	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602480	602480	"POU domain class 3, transcription factor 3"		"POU domain class 3, transcription factor 3"					Standard	Standard	NM_006236	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	uc010ywg.2	P20264	P20264	OTTHUMG00000153067	OTTHUMG00000153067	ENST00000361360.2:c.327C>T	2.37:g.105472295C>T			RP11-13J10.1_ENST00000598623.1_RNA	p.A109A	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	327	+			109	Ala-rich.|Gly-rich.	P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	c.327C>T	CCDS33265.1																																																																																									0.781	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2		11.448539	9	9	11	11			3	11.330699	11.330699	0	1	0	0	0	1	0	3	0	1	T	105472295	C	T	105472295	2	4	19	1	0	0	0	0	0	0	0	1	12276	639	23	1		1	POU3F3	2	105472295	Silent	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		105472295	137727078	2	347	6	2									
POU3F3	5455	broad.mit.edu	37	2	105472298	105472298	+	Silent	SNP	T	T	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:105472298T>C	ENST00000361360.2	+	1	330	c.330T>C	c.(328-330)gcT>gcC	p.A110A	RP11-13J10.1_ENST00000598623.1_RNA|AC018730.1_ENST00000447876.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	110	Ala-rich.|Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccgccgccgctgccgccgccg	0.791																																						ENST00000361360.2											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(328-330)gcT>gcC	POU class 3 homeobox 3						2	3	3					2																	105472298		326	964	1290	SO:0001819	synonymous_variant	5455			metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472298T>C			CCDS33265.1	CCDS33265.1	2q12.1	2011-06-20	2007-07-13		2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914	ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	"Homeoboxes / POU class"	9216	9216	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602480	602480	"POU domain class 3, transcription factor 3"		"POU domain class 3, transcription factor 3"					Standard	Standard	NM_006236	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	uc010ywg.2	P20264	P20264	OTTHUMG00000153067	OTTHUMG00000153067	ENST00000361360.2:c.330T>C	2.37:g.105472298T>C			RP11-13J10.1_ENST00000598623.1_RNA	p.A110A	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	330	+			110	Ala-rich.|Gly-rich.	P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	c.330T>C	CCDS33265.1																																																																																									0.791	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2		11.048330	7	7	9	9			3	10.93047	10.93047	0	1	0	0	0	1	0	3	0	1	C	105472298	T	C	105472298	2	2	19	1	0	0	0	0	0	0	0	1	12276	1567	55	4		4	POU3F3	2	105472298	Silent	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08	3	105472298	137727075	3	348	6	2									
FAM123C	205147	broad.mit.edu	37	2	131519652	131519652	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:131519652C>T	ENST00000423981.1	+	2	117	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	AMER3_ENST00000321420.4_Silent_p.L3L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	3					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CAGCATGGAGCTGAAGAGAGG	0.627																																						ENST00000423981.1											0										c.(7-9)Ctg>Ttg	APC membrane recruitment protein 3						16	17	17					2																	131519652		2191	4271	6462	SO:0001819	synonymous_variant	205147						g.chr2:131519652C>T	AK095696	AK095696	CCDS2164.1	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171	ENSG00000178171	ENSG00000178171		"-"	"-"	26771	26771	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"family with sequence similarity 123C"	FAM123C	"family with sequence similarity 123C"	FAM123C		20843316	20843316	Standard	Standard	NM_001105195	NM_001105195		Approved	FLJ38377	uc002trw.2	uc002trw.2	Q8N944	Q8N944	OTTHUMG00000131637	OTTHUMG00000131637	ENST00000423981.1:c.7C>T	2.37:g.131519652C>T			AMER3_ENST00000321420.4_Silent_p.L3L	p.L3L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	117	+					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.7C>T	CCDS2164.1																																																																																									0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		7.823927	-6	-6	20	20	NM_152698		3	8.502517	8.502517	9	0.25	0	0	0	1	0	3	9	0.25	T	131519652	C	T	131519652	2	4	19	1	0	0	0	0	0	0	0	1	5424	796	28	2		2	FAM123C	2	131519652	Silent	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08	26047354	131519652	111679721	4	349											
BAP1	8314	broad.mit.edu	37	3	52436620	52436620	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:52436620T>A	ENST00000460680.1	-	16	2525	c.2054A>T	c.(2053-2055)gAa>gTa	p.E685V	BAP1_ENST00000296288.5_Missense_Mutation_p.E667V	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E685V(1)|p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCCTCACCTTCCTGAGCCAG	0.552			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Missense(1)|Unknown(1)	pleura(2)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(2053-2055)gAa>gTa	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						148	135	140					3																	52436620		2203	4300	6503	SO:0001583	missense	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436620T>A	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.2054A>T	3.37:g.52436620T>A	ENSP00000417132:p.Glu685Val		BAP1_ENST00000296288.5_Missense_Mutation_p.E667V	p.E685V	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	16	2525	-			685	Interaction with BRCA1.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.2054A>T	CCDS2853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.073625|4.073625	0.76415|0.76415	.|.	.|.	ENSG00000163930|ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368|ENST00000469613	T;T;T|.	0.51325|.	0.71;0.71;0.71|.	5.82|5.82	5.82|5.82	0.92795|0.92795	5.82|5.82	5.82|5.82	0.92795|0.92795	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70928|.	0.3280|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.60789|.	0.879|.	T|.	0.69026|.	-0.5254|.	10|.	0.87932|.	D|.	0|.	.|.	16.183|16.183	0.81925|0.81925	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	685|.	Q92560|.	BAP1_HUMAN|.	V|X	685;667;209|85	ENSP00000417132:E685V;ENSP00000296288:E667V;ENSP00000420647:E209V|.	ENSP00000296288:E667V|.	E|K	-|-	2|1	0|0	0|0	BAP1|BAP1	52411660|52411660	52411660|52411660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	6.280000|6.280000	0.72626|0.72626	2.231000|2.231000	0.72958|0.72958	0.402000|0.402000	0.26972|0.26972	GAA|AAG		0.552	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		134.539547	-4	-4	73	73			38	136.200235	136.200235	1	0.974359	0	0	0	1	0	38	1	0.974359	A	52436620	T	A	52436620	3	1	19	1	0	0	0	0	1	0	0	0	1311	1783	62	5	143	5	BAP1	3	52436620	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08		52436620	145585810	5	350											
SNX4	8723	broad.mit.edu	37	3	125223532	125223532	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:125223532T>G	ENST00000251775.4	-	2	222	c.198A>C	c.(196-198)gaA>gaC	p.E66D	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	66	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CAGTTCGTTTTTCTGCTTCTG	0.353																																						ENST00000251775.4											0			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(196-198)gaA>gaC	sorting nexin 4						191	163	173					3																	125223532		2203	4300	6503	SO:0001583	missense	8723			cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125223532T>G	AF065485	AF065485	CCDS3032.1	CCDS3032.1	3q21.2	2014-02-12			2014-02-12			ENSG00000114520	ENSG00000114520	ENSG00000114520	ENSG00000114520		"Sorting nexins"	"Sorting nexins"	11175	11175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605931	605931						9819414	9819414	Standard	Standard	NM_003794	NM_003794		Approved	ATG24B	uc003eib.4	uc003eib.4	O95219	O95219	OTTHUMG00000159575	OTTHUMG00000159575	ENST00000251775.4:c.198A>C	3.37:g.125223532T>G	ENSP00000251775:p.Glu66Asp		SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron	p.E66D	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			2	222	-			66	PX.	B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.198A>C	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.748976	0.69533	.	.	ENSG00000114520	ENST00000251775	T	0.45276	0.9	4.75	3.6	0.41247	4.75	3.6	0.41247	Phox homologous domain (5);	0.098437	0.64402	N	0.000002	T	0.60907	0.2305	M	0.87456	2.885	0.80722	D	1	D	0.63880	0.993	P	0.61940	0.896	T	0.60757	-0.7200	10	0.36615	T	0.2	-13.2006	7.9672	0.30107	0.0:0.2356:0.0:0.7644	.	66	O95219	SNX4_HUMAN	D	66	ENSP00000251775:E66D	ENSP00000251775:E66D	E	-	3	2	2	SNX4	126706222	126706222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.740000	0.26188	0.856000	0.35383	0.533000	0.62120	GAA		0.353	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1		84.117479	4	4	55	55	NM_003794		22	86.108866	86.108866	1	0.956522	0	0	0	1	0	22	1	0.956522	G	125223532	T	G	125223532	3	3	19	1	0	0	0	0	1	0	0	0	14904	1838	64	5	1206	5	SNX4	3	125223532	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08	72786912	125223532	72798898	6	351											
JAKMIP1	152789	broad.mit.edu	37	4	6050593	6050593	+	Silent	SNP	C	C	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr4:6050593C>A	ENST00000409021.3	-	16	2468	c.2019G>T	c.(2017-2019)ctG>ctT	p.L673L	JAKMIP1_ENST00000409371.3_Silent_p.L488L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTTTCACACAGGGCAAGCA	0.468																																						ENST00000409021.3											0			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2017-2019)ctG>ctT	janus kinase and microtubule interacting protein 1						97	95	96					4																	6050593		1986	4151	6137	SO:0001819	synonymous_variant	152789			protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6050593C>A	AK056126	AK056126	CCDS3385.1, CCDS47005.1	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969	ENSG00000152969	ENSG00000152969				26460	26460	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611195	611195						18941173	18941173	Standard	Standard	NM_144720	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	uc010idb.1	Q96N16	Q96N16	OTTHUMG00000125491	OTTHUMG00000125491	ENST00000409021.3:c.2019G>T	4.37:g.6050593C>A			JAKMIP1_ENST00000409371.3_Silent_p.L488L	p.L673L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			16	2468	-			444		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000409021.3	37	c.2019G>T	CCDS47005.1																																																																																									0.468	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1		-1.711817	6	6	63	63	NM_144720		3	6.777134	6.777134	41	0.068182	1	0	0.115264	1	0.128071	3	41	0.068182	A	6050593	C	A	6050593	2	1	19	1	0	0	0	0	0	0	0	1	7940	465	17	5		5	JAKMIP1	4	6050593	Silent	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		6050593	185103683	7	352											
PREX2	80243	broad.mit.edu	37	8	69000029	69000029	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr8:69000029C>T	ENST00000288368.4	+	19	2375	c.2098C>T	c.(2098-2100)Cat>Tat	p.H700Y	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	700	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCTGTTGTGCATGCTGTAGG	0.453																																						ENST00000288368.4											0			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2098-2100)Cat>Tat	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						199	186	190					8																	69000029		2203	4300	6503	SO:0001583	missense	80243			G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69000029C>T	AK024079	AK024079	CCDS6201.1	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	"Rho guanine nucleotide exchange factors"	22950	22950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	"protein phosphatase 1, regulatory subunit 129"	612139	612139	"DEP domain containing 2"	DEPDC2	"DEP domain containing 2"	DEPDC2		15304342, 15304343	15304342, 15304343	Standard	Standard	NM_024870	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	uc003xxv.1	Q70Z35	Q70Z35	OTTHUMG00000164402	OTTHUMG00000164402	ENST00000288368.4:c.2098C>T	8.37:g.69000029C>T	ENSP00000288368:p.His700Tyr		RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	p.H700Y	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			19	2375	+			700	PDZ 2.	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2098C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415959	0.42817	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.26957	1.7	5.45	5.45	0.79879	5.45	5.45	0.79879	PDZ/DHR/GLGF (4);	0.059839	0.64402	D	0.000002	T	0.23965	0.0580	L	0.31120	0.905	0.80722	D	1	B;B;B	0.27416	0.178;0.117;0.042	B;B;B	0.32928	0.155;0.123;0.051	T	0.04509	-1.0946	10	0.19147	T	0.46	.	19.2862	0.94072	0.0:1.0:0.0:0.0	.	700;700;700	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Y	700	ENSP00000288368:H700Y	ENSP00000288368:H700Y	H	+	1	0	0	PREX2	69162583	69162583	1.000000	0.71417	0.993000	0.49108	0.754000	0.42855	7.411000	0.80078	2.538000	0.85594	0.650000	0.86243	CAT		0.453	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		120.106082	-16	-16	125	125	NM_025170		45	126.065327	126.065327	109	0.292208	0	0	0	1	0	45	109	0.292208	T	69000029	C	T	69000029	3	4	19	1	0	0	0	0	1	0	0	0	12477	710	25	2	2172	2	PREX2	8	69000029	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		69000029	77363993	8	353											
KIAA0196	9897	broad.mit.edu	37	8	126094695	126094695	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr8:126094695A>G	ENST00000318410.7	-	4	696	c.347T>C	c.(346-348)cTc>cCc	p.L116P	KIAA0196_ENST00000517845.1_5'UTR|KIAA0196_ENST00000521109.1_5'UTR	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	116					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCCTTCATTGAGATCATCTAG	0.264																																						ENST00000318410.7											0			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(346-348)cTc>cCc	KIAA0196						60	60	60					8																	126094695		2201	4290	6491	SO:0001583	missense	9897			cell death	WASH complex		g.chr8:126094695A>G			CCDS6355.1	CCDS6355.1	8q24.13	2014-05-09			2014-05-09			ENSG00000164961	ENSG00000164961	ENSG00000164961	ENSG00000164961				28984	28984	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"strumpellin"	"strumpellin"	610657	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	9973294, 17160902, 23085491	Standard	Standard	NM_014846	NM_014846		Approved		uc003yrt.3	uc003yrt.3	Q12768	Q12768	OTTHUMG00000164991	OTTHUMG00000164991	ENST00000318410.7:c.347T>C	8.37:g.126094695A>G	ENSP00000318016:p.Leu116Pro		KIAA0196_ENST00000517845.1_5'UTR|KIAA0196_ENST00000521109.1_5'UTR	p.L116P	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		4	696	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		116		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.347T>C	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284335	0.80803	.	.	ENSG00000164961	ENST00000318410	D	0.88664	-2.41	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	M	0.84948	2.725	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.95600	0.8662	10	0.87932	D	0	-15.0152	15.7537	0.78009	1.0:0.0:0.0:0.0	.	116	Q12768	STRUM_HUMAN	P	116	ENSP00000318016:L116P	ENSP00000318016:L116P	L	-	2	0	0	KIAA0196	126163877	126163877	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.057000	0.93889	2.114000	0.64651	0.460000	0.39030	CTC		0.264	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1		208.902668	-10	-10	115	115	NM_014846		64	208.930641	208.930641	60	0.516129	0	0	0	1	0	64	60	0.516129	G	126094695	A	G	126094695	3	3	19	1	0	0	0	0	1	0	0	0	8161	304	11	4	3236	4	KIAA0196	8	126094695	Missense_Mutation	SNP	A	TCGA-V4-A9EO-01A-12D-A39W-08	57094666	126094695	20269327	9	354											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		60.889629	-11	-11	101	101	NM_002072		20	62.486991	62.486991	41	0.327869	0	0	0	1	0	20	41	0.327869	G	80409488	T	G	80409488	3	3	19	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08		80409488	60803943	10	355											
C12orf48	55010	broad.mit.edu	37	12	102576331	102576331	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr12:102576331C>G	ENST00000358383.5	+	9	1234	c.1189C>G	c.(1189-1191)Ccc>Gcc	p.P397A	PARPBP_ENST00000541394.1_Missense_Mutation_p.P474A|PARPBP_ENST00000392911.2_Missense_Mutation_p.P316A|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.P316A			Q9NWS1	PARI_HUMAN	PARP1 binding protein	397					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						ACATAGGTCTCCCACACAGGT	0.338																																						ENST00000327680.2											0			endometrium(1)|lung(8)|urinary_tract(2)	11						c.(946-948)Ccc>Gcc	PARP1 binding protein						42	43	43					12																	102576331		2203	4299	6502	SO:0001583	missense	55010			response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102576331C>G	AK000648	AK000648	CCDS9090.1, CCDS9090.2	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480		ENSG00000185480				26074	26074	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"PARP-1 binding protein"	"PARP-1 binding protein"	613687	613687	"chromosome 12 open reading frame 48"	C12orf48	"chromosome 12 open reading frame 48"	C12orf48		20931645	20931645	Standard	Standard	NM_017915	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	uc001tjf.3	Q9NWS1	Q9NWS1			ENST00000358383.5:c.1189C>G	12.37:g.102576331C>G	ENSP00000351153:p.Pro397Ala		PARPBP_ENST00000541394.1_Missense_Mutation_p.P474A|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.P397A|PARPBP_ENST00000392911.2_Missense_Mutation_p.P316A	p.P316A	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			10	1409	+			397		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.946C>G	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638060	0.47153	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911;ENST00000417507	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.11	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.77103	2.36	0.45490	D	0.998458	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.69198	-0.5208	10	0.87932	D	0	-7.5577	14.7262	0.69346	0.0:1.0:0.0:0.0	.	474;276;397	B4DZ31;Q9NWS1-7;Q9NWS1	.;.;PR1BP_HUMAN	A	316;474;397;316;243	ENSP00000332915:P316A;ENSP00000440850:P474A;ENSP00000351153:P397A;ENSP00000376643:P316A;ENSP00000411313:P243A	ENSP00000332915:P316A	P	+	1	0	0	C12orf48	101100461	101100461	1.000000	0.71417	0.998000	0.56505	0.107000	0.19398	3.974000	0.56852	2.613000	0.88420	0.591000	0.81541	CCC		0.338	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2		53.114730	-7	-7	49	49	NM_017915		18	53.366825	53.366825	25	0.418605	0	0	0	1	0	18	25	0.418605	G	102576331	C	G	102576331	3	3	19	1	0	0	0	0	1	0	0	0	1692	855	30	5	972	5	C12orf48	12	102576331	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		102576331	31275564	11	356											
TBX5	6910	broad.mit.edu	37	12	114823293	114823293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr12:114823293G>C	ENST00000310346.4	-	7	1409	c.743C>G	c.(742-744)tCa>tGa	p.S248*	TBX5_ENST00000349716.5_Nonsense_Mutation_p.S198*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.S248*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.S248*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	248					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGCATTCTTGACATTCTGTG	0.478																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(742-744)tCa>tGa	T-box 5						169	138	148					12																	114823293		2203	4300	6503	SO:0001587	stop_gained	6910			cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114823293G>C	U89353	U89353	CCDS9173.1, CCDS9174.1	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			2014-09-17			ENSG00000089225	ENSG00000089225	ENSG00000089225	ENSG00000089225		"T-boxes"	"T-boxes"	11604	11604	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601620	601620		HOS		HOS		8988165, 8054982	8988165, 8054982	Standard	Standard	NM_000192	NM_000192		Approved		uc001tvo.4	uc001tvo.4	Q99593	Q99593	OTTHUMG00000166191	OTTHUMG00000166191	ENST00000310346.4:c.743C>G	12.37:g.114823293G>C	ENSP00000309913:p.Ser248*		TBX5_ENST00000349716.5_Nonsense_Mutation_p.S198*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.S248*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.S248*	p.S248*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	7	1409	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		248		A6ND77|O15301|Q96TB0|Q9Y4I2	Nonsense_Mutation	SNP	ENST00000310346.4	37	c.743C>G	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	43	10.149025	0.99348	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.193142	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.8883	0.92388	0.0:0.0:1.0:0.0	.	.	.	.	X	198;248;145;248;248	.	ENSP00000309913:S248X	S	-	2	0	0	TBX5	113307676	113307676	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.363000	0.97131	2.472000	0.83506	0.563000	0.77884	TCA		0.478	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1		133.891157	3	3	119	119	NM_080717		40	134.132857	134.132857	50	0.444444	0	0	0	1	0	40	50	0.444444	C	114823293	G	C	114823293	4	2	19	1	0	0	0	0	0	1	0	0	15658	1294	45	5	892	5	TBX5	12	114823293	Nonsense_Mutation	SNP	G	TCGA-V4-A9EO-01A-12D-A39W-08	12246962	114823293	19028602	12	357											
KCTD19	146212	broad.mit.edu	37	16	67327540	67327540	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:67327540C>T	ENST00000304372.5	-	12	2180	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	709					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGCCCCTTGTCTTTCGCTCCA	0.597																																						ENST00000304372.5											0			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2125-2127)Gac>Aac	potassium channel tetramerization domain containing 19						91	97	95					16																	67327540		2013	4180	6193	SO:0001583	missense	146212				voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327540C>T	AK097481	AK097481	CCDS42179.1	CCDS42179.1	16q22.1	2013-06-20	2013-06-20		2013-06-20	2013-06-20			ENSG00000168676		ENSG00000168676				24753	24753	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"potassium channel tetramerisation domain containing 19"		"potassium channel tetramerisation domain containing 19"					Standard	Standard	NM_001100915	NM_001100915		Approved	FLJ40162	uc002esu.2	uc002esu.2	Q17RG1	Q17RG1			ENST00000304372.5:c.2125G>A	16.37:g.67327540C>T	ENSP00000305702:p.Asp709Asn			p.D709N	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2180	-		Ovarian(137;0.192)	709		B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2125G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404509	0.42613	.	.	ENSG00000168676	ENST00000304372	T	0.59772	0.24	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.426896	0.22428	N	0.060193	T	0.39489	0.1080	N	0.19112	0.55	0.35187	D	0.773001	P	0.38922	0.651	B	0.24541	0.054	T	0.57516	-0.7798	10	0.59425	D	0.04	-16.2777	15.6912	0.77453	0.0:1.0:0.0:0.0	.	709	Q17RG1	KCD19_HUMAN	N	709	ENSP00000305702:D709N	ENSP00000305702:D709N	D	-	1	0	0	KCTD19	65885041	65885041	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	3.895000	0.56258	2.779000	0.95612	0.563000	0.77884	GAC		0.597	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1		72.590610	-19	-19	97	97	XM_085367		27	76.101897	76.101897	65	0.293478	0	0	0	1	0	27	65	0.293478	T	67327540	C	T	67327540	3	4	19	1	0	0	0	0	1	0	0	0	8106	913	32	3	675	3	KCTD19	16	67327540	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		67327540	23027213	13	358											
FANCA	2175	broad.mit.edu	37	16	89831391	89831391	+	Silent	SNP	G	G	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:89831391G>C	ENST00000389301.3	-	28	2715	c.2685C>G	c.(2683-2685)ccC>ccG	p.P895P	FANCA_ENST00000568369.1_Silent_p.P895P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	895					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAAGGTGCAAGGGTCTCCAGG	0.527			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(2683-2685)ccC>ccG	Fanconi anemia, complementation group A						140	125	130					16																	89831391		2198	4300	6498	SO:0001819	synonymous_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89831391G>C	Z83067	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			2014-09-17			ENSG00000187741	ENSG00000187741	ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	"Fanconi anemia, complementation groups"	3582	3582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607139	607139		FACA, FANCH		FACA, FANCH		7581462, 9382107	7581462, 9382107	Standard	Standard	NM_001286167	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	uc002fou.1	O15360	O15360			ENST00000389301.3:c.2685C>G	16.37:g.89831391G>C			FANCA_ENST00000568369.1_Silent_p.P895P	p.P895P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	28	2715	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	895		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.2685C>G	CCDS32515.1																																																																																									0.527	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		6.242892	7	7	70	70			5	12.474967	12.474967	38	0.116279	0	0	0	1	0	5	38	0.116279	C	89831391	G	C	89831391	2	2	19	1	0	0	0	0	0	0	0	1	5662	987	35	5		5	FANCA	16	89831391	Silent	SNP	G	TCGA-V4-A9EO-01A-12D-A39W-08	22503851	89831391	523362	14	359											
MYO15A	51168	hgsc.bcm.edu	37	17	18024984	18024984	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr17:18024984C>G	ENST00000205890.5	+	2	3208	c.2870C>G	c.(2869-2871)cCc>cGc	p.P957R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	957					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCCAGGCCACCCCCTGTGCCG	0.677																																																	0																	11	13	12					17																	18024984		1869	4056	5925	SO:0001583	missense	51168							AF144094	AF144094	CCDS42271.1	CCDS42271.1	17p11.2	2011-09-27			2011-09-27			ENSG00000091536	ENSG00000091536	ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	"Myosins / Myosin superfamily : Class XV"	7594	7594	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602666	602666		DFNB3, MYO15		DFNB3, MYO15		9603736	9603736	Standard	Standard	NM_016239	NM_016239		Approved		uc021trl.1	uc021trl.1	Q9UKN7	Q9UKN7	OTTHUMG00000059390	OTTHUMG00000059390	ENST00000205890.5:c.2870C>G	17.37:g.18024984C>G	ENSP00000205890:p.Pro957Arg																	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37		CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	6.308	0.424980	0.11987	.	.	ENSG00000091536	ENST00000205890	D	0.91237	-2.81	4.49	2.42	0.29668	4.49	2.42	0.29668	.	.	.	.	.	D	0.82793	0.5114	L	0.29908	0.895	0.18873	N	0.999985	P	0.37015	0.578	B	0.30855	0.121	T	0.72097	-0.4393	9	0.87932	D	0	.	9.5673	0.39407	0.3823:0.6177:0.0:0.0	.	957	Q9UKN7	MYO15_HUMAN	R	957	ENSP00000205890:P957R	ENSP00000205890:P957R	P	+	2	0	0	MYO15A	17965709	17965709	0.007000	0.16637	0.044000	0.18714	0.256000	0.26092	1.033000	0.30191	0.317000	0.23160	-0.521000	0.04368	CCC		0.677	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1			-1	-1	21	21	NM_016239		7			12							7	12		G	18024984	C	G	18024984	3	3	19	1	0	0	0	0	1	0	0	0	10063	623	22	5	2872	5	MYO15A	17	18024984	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		18024984	63170226	15	360											
KRT40	125115	broad.mit.edu	37	17	39137347	39137347	+	Silent	SNP	A	A	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr17:39137347A>T	ENST00000398486.2	-	6	904	c.744T>A	c.(742-744)acT>acA	p.T248T	KRT40_ENST00000377755.4_Silent_p.T248T	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	248	Linker 12.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGGTGGGGGCAGTGTCCAGCT	0.537																																						ENST00000377755.4											0			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(742-744)acT>acA	keratin 40						121	131	128					17																	39137347		2074	4216	6290	SO:0001819	synonymous_variant	125115				intermediate filament	structural molecule activity	g.chr17:39137347A>T	AK093919	AK093919	CCDS42320.1	CCDS42320.1	17q21.2	2013-01-16			2013-01-16			ENSG00000204889	ENSG00000204889	ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	"-", "Intermediate filaments type I, keratins (acidic)"	26707	26707	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										16831889	16831889	Standard	Standard	NM_182497	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	uc010cxh.1	Q6A162	Q6A162	OTTHUMG00000133596	OTTHUMG00000133596	ENST00000398486.2:c.744T>A	17.37:g.39137347A>T			KRT40_ENST00000398486.2_Silent_p.T248T	p.T248T			Q6A162	K1C40_HUMAN			4	778	-		Breast(137;0.00043)	248	Linker 12.|Rod.	Q6IFU5	Silent	SNP	ENST00000398486.2	37	c.744T>A	CCDS42320.1																																																																																									0.537	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3		-33.745760	9	9	157	157	NM_182497		4	6.306423	6.306423	156	0.025	0	0	0	1	0	4	156	0.025	T	39137347	A	T	39137347	2	4	19	1	0	0	0	0	0	0	0	1	8478	175	7	5		5	KRT40	17	39137347	Silent	SNP	A	TCGA-V4-A9EO-01A-12D-A39W-08	21112363	39137347	42057863	16	361											
FHOD3	80206	broad.mit.edu	37	18	33952644	33952644	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr18:33952644C>T	ENST00000359247.4	+	3	274	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	FHOD3_ENST00000445677.1_Splice_Site_p.R92W|FHOD3_ENST00000590592.1_Splice_Site_p.R92W|FHOD3_ENST00000257209.4_Splice_Site_p.R92W	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	92	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCTCGTTAGGCGGGGCAAGAA	0.522																																						ENST00000257209.4											0			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(274-276)Cgg>Tgg	formin homology 2 domain containing 3																																			SO:0001630	splice_region_variant	80206			actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:33952644C>T	AK091899	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02			2007-08-02				ENSG00000134775		ENSG00000134775				26178	26178	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609691	609691						11214970	11214970	Standard	Standard	NM_025135	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	uc021uiv.1	Q2V2M9	Q2V2M9			ENST00000359247.4:c.273-1C>T	18.37:g.33952644C>T			FHOD3_ENST00000590592.1_Splice_Site_p.R92W|FHOD3_ENST00000445677.1_Splice_Site_p.R92W|FHOD3_ENST00000359247.4_Splice_Site_p.R92W	p.R92W	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			3	396	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	92	GBD/FH3.	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Splice_Site	SNP	ENST00000359247.4	37	c.274C>T		.	.	.	.	.	.	.	.	.	.	C	17.77	3.471204	0.63625	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.20200	2.09;2.09;2.09	5.07	1.99	0.26369	5.07	1.99	0.26369	GTPase-binding/formin homology 3 (1);	0.059478	0.64402	D	0.000009	T	0.33760	0.0874	L	0.40543	1.245	0.29114	N	0.880696	D;D;P	0.89917	1.0;1.0;0.85	D;D;B	0.83275	0.967;0.996;0.06	T	0.13388	-1.0511	10	0.87932	D	0	.	10.8051	0.46514	0.6476:0.3524:0.0:0.0	.	92;92;92	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	W	92	ENSP00000257209:R92W;ENSP00000352186:R92W;ENSP00000411430:R92W	ENSP00000257209:R92W	R	+	1	2	2	FHOD3	32206642	32206642	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.465000	0.35299	0.240000	0.21263	0.650000	0.86243	CGG		0.522	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1		37.065480	6	6	38	38	XM_371114	Missense_Mutation	13	37.10082	37.10082	11	0.541667	0	0	0	1	0	13	11	0.541667	T	33952644	C	T	33952644	5	4	19	1	0	0	0	0	0	0	1	0	5883	782	27	1	284	1	FHOD3	18	33952644	Splice_Site	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		33952644	44124604	17	362											
LIPE	3991	broad.mit.edu	37	19	42912150	42912150	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr19:42912150A>G	ENST00000244289.4	-	4	1910	c.1634T>C	c.(1633-1635)aTc>aCc	p.I545T	LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	545					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CATCTCGGTGATGTTCCAGAA	0.597																																						ENST00000244289.4											0			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1633-1635)aTc>aCc	lipase, hormone-sensitive						78	60	66					19																	42912150		2203	4300	6503	SO:0001583	missense	3991			cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912150A>G	L11706	L11706	CCDS12607.1	CCDS12607.1	19q13.1-q13.2	2014-03-14			2014-03-14			ENSG00000079435	ENSG00000079435	ENSG00000079435	ENSG00000079435	3.1.1.3			6621	6621	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			151750	151750						8506334	8506334	Standard	Standard	NM_005357	NM_005357		Approved	HSL	uc002otr.3	uc002otr.3	Q05469	Q05469	OTTHUMG00000182814	OTTHUMG00000182814	ENST00000244289.4:c.1634T>C	19.37:g.42912150A>G	ENSP00000244289:p.Ile545Thr		LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA	p.I545T	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			4	1910	-		Prostate(69;0.00682)	545		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1634T>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.049033	0.55110	.	.	ENSG00000079435	ENST00000244289	T	0.37058	1.22	4.12	3.07	0.35406	4.12	3.07	0.35406	Hormone-sensitive lipase, N-terminal (1);	0.156433	0.39834	N	0.001252	T	0.50514	0.1620	L	0.54323	1.7	0.38897	D	0.957238	D;D	0.76494	0.999;0.997	D;D	0.80764	0.984;0.994	T	0.51228	-0.8732	10	0.66056	D	0.02	-21.1103	9.0444	0.36338	0.8348:0.0:0.0:0.1652	.	545;545	A8K8W7;Q05469	.;LIPS_HUMAN	T	545	ENSP00000244289:I545T	ENSP00000244289:I545T	I	-	2	0	0	LIPE	47603990	47603990	1.000000	0.71417	0.989000	0.46669	0.703000	0.40648	3.784000	0.55416	0.538000	0.28769	0.459000	0.35465	ATC		0.597	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1		5.091048	16	16	33	33	NM_005357		4	6.382114	6.382114	14	0.222222	0	0	0	1	0	4	14	0.222222	G	42912150	A	G	42912150	3	3	19	1	0	0	0	0	1	0	0	0	8821	333	12	4	1624	4	LIPE	19	42912150	Missense_Mutation	SNP	A	TCGA-V4-A9EO-01A-12D-A39W-08		42912150	16216833	18	363											
NLRP2	55655	broad.mit.edu	37	19	55494140	55494140	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr19:55494140C>T	ENST00000543010.1	+	6	1217	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	NLRP2_ENST00000537859.1_Silent_p.G336G|NLRP2_ENST00000538819.1_Silent_p.G334G|NLRP2_ENST00000427260.2_Silent_p.G335G|NLRP2_ENST00000339757.7_Silent_p.G336G|NLRP2_ENST00000391721.4_Silent_p.G334G|NLRP2_ENST00000448584.2_Silent_p.G358G|NLRP2_ENST00000263437.6_Silent_p.G355G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	358	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGTGGAGGGCTTCCTGGAGG	0.622																																						ENST00000543010.1											0			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1072-1074)ggC>ggT	NLR family, pyrin domain containing 2						34	32	33					19																	55494140		2203	4300	6503	SO:0001819	synonymous_variant	55655			apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494140C>T	AK000517	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	"Nucleotide-binding domain and leucine rich repeat containing"	22948	22948	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	12563287, 11270363	Standard	Standard	NM_001174081	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	uc021vbq.1	Q9NX02	Q9NX02	OTTHUMG00000167763	OTTHUMG00000167763	ENST00000543010.1:c.1074C>T	19.37:g.55494140C>T			NLRP2_ENST00000339757.7_Silent_p.G336G|NLRP2_ENST00000391721.4_Silent_p.G334G|NLRP2_ENST00000448584.2_Silent_p.G358G|NLRP2_ENST00000427260.2_Silent_p.G335G|NLRP2_ENST00000538819.1_Silent_p.G334G|NLRP2_ENST00000263437.6_Silent_p.G355G|NLRP2_ENST00000537859.1_Silent_p.G336G	p.G358G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1217	+			358	NACHT.	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1074C>T	CCDS12913.1																																																																																									0.622	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		17.212518	6	6	31	31	NM_017852		7	18.462776	18.462776	19	0.269231	0	0	0	1	0	7	19	0.269231	T	55494140	C	T	55494140	2	4	19	1	0	0	0	0	0	0	0	1	10477	784	28	2		2	NLRP2	19	55494140	Silent	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08	12581990	55494140	3634843	19	364											
C20orf117	140710	broad.mit.edu	37	20	35443784	35443784	+	Silent	SNP	G	G	A	rs528805804		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:35443784G>A	ENST00000357779.3	-	5	1673	c.1347C>T	c.(1345-1347)aaC>aaT	p.N449N	SOGA1_ENST00000279034.6_Silent_p.N449N|SOGA1_ENST00000456801.2_Silent_p.N290N|SOGA1_ENST00000237536.4_Silent_p.N687N			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	449					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAGCACACTCGTTGTCCAGAC	0.647																																						ENST00000237536.4											0			endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2059-2061)aaC>aaT	suppressor of glucose, autophagy associated 1						33	35	34					20																	35443784		2203	4299	6502	SO:0001819	synonymous_variant	140710						g.chr20:35443784G>A	AK126630	AK126630	CCDS46598.1, CCDS54459.1	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639	ENSG00000149639	ENSG00000149639				16111	16111	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"			"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889	"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	20813965	Standard	Standard	NM_080627	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	uc021wcx.1	O94964	O94964	OTTHUMG00000032395	OTTHUMG00000032395	ENST00000357779.3:c.1347C>T	20.37:g.35443784G>A			SOGA1_ENST00000456801.2_Silent_p.N290N|SOGA1_ENST00000279034.6_Silent_p.N449N|SOGA1_ENST00000357779.3_Silent_p.N449N	p.N687N	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2402	-			449		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.2061C>T																																																																																										0.647	SOGA1-201	KNOWN	basic	protein_coding	protein_coding			32.922908	-2	-2	29	29	NM_199181		11	32.932383	32.932383	12	0.478261	0	0	0	1	0	11	12	0.478261	A	35443784	G	A	35443784	2	1	19	1	0	0	0	0	0	0	0	1	2083	1136	40	1		1	C20orf117	20	35443784	Silent	SNP	G	TCGA-V4-A9EO-01A-12D-A39W-08		35443784	27581736	20	365											
TSHZ2	128553	broad.mit.edu	37	20	51873020	51873020	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:51873020C>A	ENST00000371497.5	+	2	3910	c.3023C>A	c.(3022-3024)gCg>gAg	p.A1008E	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005E|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAACATGCGGTAAAACTC	0.468																																						ENST00000371497.5											0			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(3022-3024)gCg>gAg	teashirt zinc finger homeobox 2						119	101	107					20																	51873020		2203	4300	6503	SO:0001583	missense	128553			multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51873020C>A	AF230201	AF230201	CCDS33490.1, CCDS54474.1	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	13010	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614118	614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	9671742	Standard	Standard	NM_173485	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	uc021wex.1	Q9NRE2	Q9NRE2	OTTHUMG00000033058	OTTHUMG00000033058	ENST00000371497.5:c.3023C>A	20.37:g.51873020C>A	ENSP00000360552:p.Ala1008Glu		TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005E|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005E	p.A1008E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3910	+			1008		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.3023C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556662	0.86231	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.28666	1.6;1.6	5.69	5.69	0.88448	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59841	-0.7378	10	0.87932	D	0	-14.5615	19.8075	0.96536	0.0:1.0:0.0:0.0	.	1008	Q9NRE2	TSH2_HUMAN	E	1008;1005	ENSP00000360552:A1008E;ENSP00000333114:A1005E	ENSP00000333114:A1005E	A	+	2	0	0	TSHZ2	51306427	51306427	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	7.482000	0.81143	2.681000	0.91329	0.637000	0.83480	GCG		0.468	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6		-5.018007	-14	-14	53	53	NM_173485		3	6.478086	6.478086	52	0.054545	1	0	0.150653	1	0.155848	3	52	0.054545	A	51873020	C	A	51873020	3	1	19	1	0	0	0	0	1	0	0	0	16621	768	27	5	3029	5	TSHZ2	20	51873020	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08	16429236	51873020	11152500	21	366											
GMEB2	26205	broad.mit.edu	37	20	62236107	62236107	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:62236107T>C	ENST00000266068.1	-	2	696	c.218A>G	c.(217-219)gAa>gGa	p.E73G	GMEB2_ENST00000370069.1_Missense_Mutation_p.E22G|GMEB2_ENST00000370077.1_Missense_Mutation_p.E73G			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	73					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TAACACGGCTTCCTTGAGCTG	0.577																																						ENST00000266068.1											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(217-219)gAa>gGa	glucocorticoid modulatory element binding protein 2						76	75	75					20																	62236107		2203	4300	6503	SO:0001583	missense	26205			regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62236107T>C	AF173867	AF173867	CCDS13528.1	CCDS13528.1	20q13.33	2008-07-02			2008-07-02			ENSG00000101216	ENSG00000101216	ENSG00000101216	ENSG00000101216				4371	4371	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607451	607451						10523663, 11743720	10523663, 11743720	Standard	Standard	NM_012384	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	uc002yfq.1	Q9UKD1	Q9UKD1	OTTHUMG00000032988	OTTHUMG00000032988	ENST00000266068.1:c.218A>G	20.37:g.62236107T>C	ENSP00000266068:p.Glu73Gly		GMEB2_ENST00000370069.1_Missense_Mutation_p.E22G|GMEB2_ENST00000370077.1_Missense_Mutation_p.E73G	p.E73G			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		2	696	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		73		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.218A>G	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346293	0.61073	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.68025	-0.3;0.3;0.3	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.059134	0.64402	D	0.000004	T	0.47746	0.1462	N	0.08118	0	0.41882	D	0.990329	B	0.31383	0.321	B	0.30943	0.122	T	0.54702	-0.8254	10	0.56958	D	0.05	-3.4365	14.1277	0.65233	0.0:0.0:0.0:1.0	.	73	Q9UKD1	GMEB2_HUMAN	G	22;73;73	ENSP00000359086:E22G;ENSP00000359094:E73G;ENSP00000266068:E73G	ENSP00000266068:E73G	E	-	2	0	0	GMEB2	61706551	61706551	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	4.907000	0.63300	1.822000	0.53115	0.379000	0.24179	GAA		0.577	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1		83.104216	7	7	84	84	NM_012384		27	84.618375	84.618375	50	0.350649	0	0	0	1	0	27	50	0.350649	C	62236107	T	C	62236107	3	2	19	1	0	0	0	0	1	0	0	0	6488	1783	62	4	1406	4	GMEB2	20	62236107	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08	10363087	62236107	789413	22	367											
PTCHD1	139411	ucsc.edu	37	X	23411271	23411271	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chrX:23411271C>A	ENST00000379361.4	+	3	2496	c.1636C>A	c.(1636-1638)Caa>Aaa	p.Q546K		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	546					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						TACTGCCCAGCAAAAGTACTT	0.423																																																	0																	105	93	97					X																	23411271		2203	4300	6503	SO:0001583	missense	139411							AK054858	AK054858	CCDS35215.2	CCDS35215.2	Xp22.13	2008-02-05			2008-02-05			ENSG00000165186	ENSG00000165186	ENSG00000165186	ENSG00000165186				26392	26392	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300828	300828								Standard	Standard	NM_173495	NM_173495		Approved	FLJ30296	uc004dal.4	uc004dal.4	Q96NR3	Q96NR3	OTTHUMG00000021251	OTTHUMG00000021251	ENST00000379361.4:c.1636C>A	X.37:g.23411271C>A	ENSP00000368666:p.Gln546Lys																	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37		CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947582	0.73787	.	.	ENSG00000165186	ENST00000379361	D	0.83992	-1.79	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	L	0.54323	1.7	0.53688	D	0.99997	B	0.17852	0.024	B	0.31290	0.127	T	0.76971	-0.2761	10	0.23302	T	0.38	.	18.7851	0.91951	0.0:1.0:0.0:0.0	.	546	Q96NR3	PTHD1_HUMAN	K	546	ENSP00000368666:Q546K	ENSP00000368666:Q546K	Q	+	1	0	0	PTCHD1	23321192	23321192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.764000	0.68826	2.381000	0.81170	0.600000	0.82982	CAA		0.423	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2			-91	-91	49	49	NM_173495		4			26							4	26		A	23411271	C	A	23411271	3	1	19	1	0	0	0	0	1	0	0	0	12732	711	25	5	1646	5	PTCHD1	23	23411271	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		23411271	131859289	23	368											
IL22RA1	58985	ucsc.edu	37	1	24463667	24463667	+	Silent	SNP	G	G	A			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr1:24463667G>A	ENST00000270800.1	-	3	347	c.309C>T	c.(307-309)ggC>ggT	p.G103G		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	103	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGGCTGACCGGCCTCCCGCAC	0.612																																																	0																	64	58	60					1																	24463667		2203	4300	6503	SO:0001819	synonymous_variant	58985							AF286095	AF286095	CCDS247.1	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	"Interleukins and interleukin receptors"	13700	13700	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605457	605457	"interleukin 22 receptor"	IL22R	"interleukin 22 receptor"	IL22R		10875937	10875937	Standard	Standard	NM_021258	NM_021258		Approved	CRF2-9	uc001biq.2	uc001biq.2	Q8N6P7	Q8N6P7	OTTHUMG00000003041	OTTHUMG00000003041	ENST00000270800.1:c.309C>T	1.37:g.24463667G>A																		A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37		CCDS247.1																																																																																									0.612	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			-8	-8	51	51			4			30							4	30		A	24463667	G	A	24463667	2	1	20	1	0	0	0	0	0	0	0	1	7673	1190	42	2		2	IL22RA1	1	24463667	Silent	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08		24463667	224786954	1	369											
FAM161A	84140	broad.mit.edu	37	2	62066857	62066857	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr2:62066857T>C	ENST00000405894.3	-	3	1383	c.1282A>G	c.(1282-1284)Act>Gct	p.T428A	FAM161A_ENST00000404929.1_Missense_Mutation_p.T428A	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	428					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAATCAGGAGTTGGGCACCTA	0.463																																						ENST00000404929.1											0			breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1282-1284)Act>Gct	family with sequence similarity 161, member A						121	110	114					2																	62066857		1911	4121	6032	SO:0001583	missense	84140			response to stimulus|visual perception	centrosome		g.chr2:62066857T>C			CCDS42687.2, CCDS56120.1	CCDS42687.2, CCDS56120.1	2p15	2011-03-15			2011-03-15			ENSG00000170264	ENSG00000170264	ENSG00000170264	ENSG00000170264				25808	25808	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613596	613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	10507729, 20705278, 20705279	Standard	Standard	NM_032180	NM_032180		Approved	FLJ13305	uc002sbm.4	uc002sbm.4	Q3B820	Q3B820	OTTHUMG00000152165	OTTHUMG00000152165	ENST00000405894.3:c.1282A>G	2.37:g.62066857T>C	ENSP00000385893:p.Thr428Ala		FAM161A_ENST00000405894.3_Missense_Mutation_p.T428A	p.T428A	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	1293	-			428		B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.1282A>G	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	T	12.46	1.944426	0.34283	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.21734	1.99;1.99	5.67	0.161	0.14977	5.67	0.161	0.14977	.	0.829500	0.11062	N	0.603908	T	0.11623	0.0283	N	0.25144	0.715	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.16289	0.015;0.005	T	0.35748	-0.9776	10	0.23302	T	0.38	-3.2393	5.5361	0.17011	0.0:0.2378:0.283:0.4792	.	428;428	Q3B820;Q3B820-3	F161A_HUMAN;.	A	428	ENSP00000385158:T428A;ENSP00000385893:T428A	ENSP00000385158:T428A	T	-	1	0	0	FAM161A	61920361	61920361	0.007000	0.16637	0.001000	0.08648	0.279000	0.26890	0.101000	0.15251	0.040000	0.15660	0.528000	0.53228	ACT		0.463	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2		114.375297	26	26	131	131	NM_032180		36	115.994141	115.994141	63	0.363636	0	0	0	1	0	36	63	0.363636	C	62066857	T	C	62066857	3	2	20	1	0	0	0	0	1	0	0	0	5472	1725	60	4	716	4	FAM161A	2	62066857	Missense_Mutation	SNP	T	TCGA-V4-A9EQ-01A-11D-A39W-08		62066857	181132516	2	370											
DOCK3	1795	broad.mit.edu	37	3	51417579	51417579	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr3:51417579G>A	ENST00000266037.9	+	52	5547	c.5524G>A	c.(5524-5526)Gcc>Acc	p.A1842T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1842					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACACTTTGACGCCTTCCACCA	0.607																																						ENST00000266037.9											0			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5524-5526)Gcc>Acc	dedicator of cytokinesis 3						108	108	108					3																	51417579		1936	4129	6065	SO:0001583	missense	1795				cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51417579G>A	AB002297	AB002297	CCDS46835.1	CCDS46835.1	3p21	2008-02-01			2008-02-01			ENSG00000088538	ENSG00000088538	ENSG00000088538	ENSG00000088538				2989	2989	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603123	603123	"dedicator of cyto-kinesis 3"		"dedicator of cyto-kinesis 3"			9205841	9205841	Standard	Standard	NM_004947	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	uc011bds.2	Q8IZD9	Q8IZD9	OTTHUMG00000156892	OTTHUMG00000156892	ENST00000266037.9:c.5524G>A	3.37:g.51417579G>A	ENSP00000266037:p.Ala1842Thr			p.A1842T	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	52	5547	+			1842		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5524G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730367	0.69074	.	.	ENSG00000088538	ENST00000266037	T	0.05199	3.48	5.8	4.93	0.64822	5.8	4.93	0.64822	.	0.052912	0.85682	N	0.000000	T	0.07234	0.0183	L	0.47716	1.5	0.58432	D	0.999998	B	0.31837	0.342	B	0.24541	0.054	T	0.27673	-1.0067	10	0.30078	T	0.28	.	14.8663	0.70419	0.0686:0.0:0.9314:0.0	.	1842	Q8IZD9	DOCK3_HUMAN	T	1842	ENSP00000266037:A1842T	ENSP00000266037:A1842T	A	+	1	0	0	DOCK3	51392619	51392619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.790000	0.69038	1.470000	0.48102	0.561000	0.74099	GCC		0.607	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		25.216820	-6	-6	30	30	NM_004947		8	26.431323	26.431323	1	0.888889	0	0	0	1	0	8	1	0.888889	A	51417579	G	A	51417579	3	1	20	1	0	0	0	0	1	0	0	0	4688	1087	38	1	5730	1	DOCK3	3	51417579	Missense_Mutation	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08		51417579	146604851	3	371											
ZNF654	55279	ucsc.edu	37	3	88190009	88190009	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr3:88190009C>A	ENST00000309495.5	+	1	1756	c.1549C>A	c.(1549-1551)Cca>Aca	p.P517T	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	517					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(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TCTTAGTATGCCAAAACGCAG	0.363																																																	0																	115	105	108					3																	88190009		1856	4104	5960	SO:0001583	missense	55279							AF543494	AF543494	CCDS46874.1	CCDS46874.1	3p11.1	2005-01-10			2005-01-10			ENSG00000175105	ENSG00000175105	ENSG00000175105	ENSG00000175105				25612	25612	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_018293	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	uc003dqv.3	Q8IZM8	Q8IZM8	OTTHUMG00000159097	OTTHUMG00000159097	ENST00000309495.5:c.1549C>A	3.37:g.88190009C>A	ENSP00000312141:p.Pro517Thr																	Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37		CCDS46874.1	.	.	.	.	.	.	.	.	.	.	c	19.49	3.836653	0.71373	.	.	ENSG00000175105	ENST00000309495	T	0.18338	2.22	5.48	5.48	0.80851	5.48	5.48	0.80851	.	.	.	.	.	T	0.32526	0.0832	L	0.29908	0.895	0.50632	D	0.999882	D	0.89917	1.0	D	0.77004	0.989	T	0.04565	-1.0942	9	0.72032	D	0.01	.	18.3314	0.90270	0.0:1.0:0.0:0.0	.	517	Q8IZM8	ZN654_HUMAN	T	517	ENSP00000312141:P517T	ENSP00000312141:P517T	P	+	1	0	0	ZNF654	88272699	88272699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.985000	0.76193	2.560000	0.86352	0.574000	0.79327	CCA		0.363	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2			-9	-9	90	90	NM_018293		4			38							4	38		A	88190009	C	A	88190009	3	1	20	1	0	0	0	0	1	0	0	0	18064	739	26	5	1551	5	ZNF654	3	88190009	Missense_Mutation	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08	36772430	88190009	109832421	4	372											
NPHP3	27031	broad.mit.edu	37	3	132411619	132411619	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr3:132411619G>A	ENST00000337331.5	-	17	2440	c.2354C>T	c.(2353-2355)tCa>tTa	p.S785L	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	785					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATCAGTTCTGATTCACTCAC	0.383																																						ENST00000337331.5											0			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2353-2355)tCa>tTa	nephronophthisis 3 (adolescent)						112	98	103					3																	132411619		2203	4300	6503	SO:0001583	missense	27031			maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132411619G>A	AB056657	AB056657	CCDS3078.1	CCDS3078.1	3q22	2014-07-18			2014-07-18			ENSG00000113971	ENSG00000113971	ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	7907	7907	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002	608002						12872122, 15381417	12872122, 15381417	Standard	Standard	NM_153240	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	uc003epe.2	Q7Z494	Q7Z494	OTTHUMG00000159713	OTTHUMG00000159713	ENST00000337331.5:c.2354C>T	3.37:g.132411619G>A	ENSP00000338766:p.Ser785Leu		NPHP3_ENST00000326682.8_3'UTR	p.S785L	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			17	2440	-			785		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.2354C>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022318	0.75275	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	D	0.91792	-2.91	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.138123	0.50627	D	0.000116	D	0.90007	0.6880	L	0.59436	1.845	0.80722	D	1	P	0.35077	0.483	B	0.30943	0.122	D	0.89970	0.4093	10	0.52906	T	0.07	-15.7516	17.1141	0.86684	0.0:0.0:1.0:0.0	.	785	Q7Z494	NPHP3_HUMAN	L	65;785	ENSP00000338766:S785L	ENSP00000338766:S785L	S	-	2	0	0	NPHP3	133894309	133894309	1.000000	0.71417	0.703000	0.30354	0.971000	0.66376	7.619000	0.83057	2.470000	0.83445	0.585000	0.79938	TCA		0.383	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2		49.378007	7	7	46	46	NM_153240		14	51.581613	51.581613	1	0.933333	0	0	0	1	0	14	1	0.933333	A	132411619	G	A	132411619	3	1	20	1	0	0	0	0	1	0	0	0	10580	1294	45	3	1682	3	NPHP3	3	132411619	Missense_Mutation	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08	44221610	132411619	65610811	5	373											
SH3RF2	153769	broad.mit.edu	37	5	145427382	145427382	+	Silent	SNP	C	C	T			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr5:145427382C>T	ENST00000511217.1	+	5	1159	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	SH3RF2_ENST00000359120.4_Silent_p.A369A			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	369					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCCACAGCCGTGGTCAGTC	0.542																																						ENST00000511217.1											0			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1105-1107)gcC>gcT	SH3 domain containing ring finger 2						154	128	137					5																	145427382		2203	4300	6503	SO:0001819	synonymous_variant	153769					ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145427382C>T	AL833297	AL833297	CCDS4280.1	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	26299	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	22128169	Standard	Standard	NM_152550	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	uc003lnt.3	Q8TEC5	Q8TEC5	OTTHUMG00000129685	OTTHUMG00000129685	ENST00000511217.1:c.1107C>T	5.37:g.145427382C>T			SH3RF2_ENST00000359120.4_Silent_p.A369A	p.A369A			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1159	+			369		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1107C>T	CCDS4280.1																																																																																									0.542	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1		73.353313	-16	-16	51	51	NM_152550		22	73.401091	73.401091	19	0.536585	0	0	0	1	0	22	19	0.536585	T	145427382	C	T	145427382	2	4	20	1	0	0	0	0	0	0	0	1	14259	639	23	1		1	SH3RF2	5	145427382	Silent	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08		145427382	35487878	6	374											
BTNL3	10917	broad.mit.edu	37	5	180432727	180432727	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr5:180432727C>T	ENST00000342868.6	+	8	1440	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	419	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGGACCATCTCCTTCTTCAAT	0.478																																						ENST00000342868.6											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(1255-1257)tCc>tTc	butyrophilin-like 3						114	110	111					5																	180432727		1908	4119	6027	SO:0001583	missense	10917			lipid metabolic process	integral to membrane		g.chr5:180432727C>T	AB020625	AB020625	CCDS47358.1	CCDS47358.1	5q35	2014-01-14			2014-01-14			ENSG00000168903	ENSG00000168903	ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	1143	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	"butyrophilin-like receptor"	606192	606192						10429365	10429365	Standard	Standard	NM_197975	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	uc003mmr.3	Q6UXE8	Q6UXE8	OTTHUMG00000162091	OTTHUMG00000162091	ENST00000342868.6:c.1256C>T	5.37:g.180432727C>T	ENSP00000341787:p.Ser419Phe			p.S419F	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1440	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	419	B30.2/SPRY.	Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.1256C>T	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251992	0.59212	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.68765	-0.35	2.74	2.74	0.32292	2.74	2.74	0.32292	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.85392	0.5686	H	0.95294	3.65	0.34179	D	0.670675	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.995	D	0.90559	0.4514	9	0.87932	D	0	.	11.2087	0.48784	0.0:1.0:0.0:0.0	.	385;419	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	F	419;385	ENSP00000341787:S419F	ENSP00000341787:S419F	S	+	2	0	0	BTNL3	180365333	180365333	0.993000	0.37304	0.094000	0.20943	0.130000	0.20726	2.307000	0.43682	1.253000	0.44018	0.174000	0.16983	TCC		0.478	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2		69.448570	16	16	89	89	NM_197975		22	69.467396	69.467396	24	0.478261	0	0	0	1	0	22	24	0.478261	T	180432727	C	T	180432727	3	4	20	1	0	0	0	0	1	0	0	0	1566	855	30	3	1286	3	BTNL3	5	180432727	Missense_Mutation	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08	35005345	180432727	482533	7	375											
NEDD9	4739	broad.mit.edu	37	6	11213718	11213718	+	Silent	SNP	G	G	A			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr6:11213718G>A	ENST00000379446.5	-	2	421	c.255C>T	c.(253-255)acC>acT	p.T85T	NEDD9_ENST00000379433.5_Silent_p.T85T|RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.T85T	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	85					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTTGGCCAAAGGTCTGCTGCA	0.552																																						ENST00000379446.5											0			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(253-255)acC>acT	neural precursor cell expressed, developmentally down-regulated 9						154	148	150					6																	11213718		2203	4300	6503	SO:0001819	synonymous_variant	4739			actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11213718G>A	L43821	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			2011-04-13			ENSG00000111859	ENSG00000111859	ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	"Cas scaffolding proteins"	7733	7733	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	"Cas scaffolding protein family member 2", "Cas-like"	602265	602265								Standard	Standard	NM_182966	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	uc003mzv.2	Q14511	Q14511	OTTHUMG00000014255	OTTHUMG00000014255	ENST00000379446.5:c.255C>T	6.37:g.11213718G>A			NEDD9_ENST00000504387.1_Silent_p.T85T|RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000379433.5_Silent_p.T85T	p.T85T	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		2	421	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	85		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	c.255C>T	CCDS4520.1																																																																																									0.552	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2		57.415766	16	16	98	98	NM_006403		19	58.141951	58.141951	32	0.372549	0	0	0	1	0	19	32	0.372549	A	11213718	G	A	11213718	2	1	20	1	0	0	0	0	0	0	0	1	10313	987	35	3		3	NEDD9	6	11213718	Silent	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08		11213718	159901349	8	376											
GSTA4	2941	broad.mit.edu	37	6	52849353	52849353	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr6:52849353A>T	ENST00000370959.1	-	5	440	c.323T>A	c.(322-324)aTg>aAg	p.M108K	GSTA4_ENST00000541324.1_Missense_Mutation_p.M15K|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370960.1_Missense_Mutation_p.M15K			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	108	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	GAAAGGATGCATGATAAGCAG	0.423																																						ENST00000541324.1											0			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7						c.(43-45)aTg>aAg	glutathione S-transferase alpha 4						135	116	122					6																	52849353		2203	4300	6503	SO:0001583	missense	2941			glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52849353A>T	AF020918	AF020918	CCDS4948.1	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	ENSG00000170899	ENSG00000170899	2.5.1.18	"Glutathione S-transferases / Soluble"	"Glutathione S-transferases / Soluble"	4629	4629	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605450	605450	"glutathione S-transferase A4"		"glutathione S-transferase A4"			9480897	9480897	Standard	Standard	NM_001512	NM_001512		Approved		uc003pbf.3	uc003pbf.3	O15217	O15217	OTTHUMG00000014868	OTTHUMG00000014868	ENST00000370959.1:c.323T>A	6.37:g.52849353A>T	ENSP00000359998:p.Met108Lys		GSTA4_ENST00000370960.1_Missense_Mutation_p.M15K|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370959.1_Missense_Mutation_p.M108K	p.M15K			O15217	GSTA4_HUMAN			3	309	-	Lung NSC(77;0.103)		108	GST N-terminal.	B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	c.44T>A	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154369	0.38021	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959;ENST00000457564	T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51	5.0	3.83	0.44106	5.0	3.83	0.44106	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.558985	0.21306	N	0.076723	T	0.00784	0.0026	L	0.35542	1.07	0.41028	D	0.985137	B	0.06786	0.001	B	0.09377	0.004	T	0.50659	-0.8802	10	0.30078	T	0.28	-12.824	8.2267	0.31572	0.8407:0.0:0.1593:0.0	.	108	O15217	GSTA4_HUMAN	K	108;15;15;108;15	ENSP00000360002:M108K;ENSP00000439439:M15K;ENSP00000359999:M15K;ENSP00000359998:M108K;ENSP00000394228:M15K	ENSP00000359998:M108K	M	-	2	0	0	GSTA4	52957312	52957312	0.033000	0.19621	0.997000	0.53966	0.984000	0.73092	0.656000	0.24948	0.835000	0.34877	0.455000	0.32223	ATG		0.423	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1		117.129240	8	8	114	114	NM_001512		38	117.669803	117.669803	53	0.417582	0	0	0	1	0	38	53	0.417582	T	52849353	A	T	52849353	3	4	20	1	0	0	0	0	1	0	0	0	6833	217	8	5	357	5	GSTA4	6	52849353	Missense_Mutation	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08	41635635	52849353	118265714	9	377											
VWA5A	4013	broad.mit.edu	37	11	123988499	123988499	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr11:123988499A>G	ENST00000456829.2	+	4	414	c.163A>G	c.(163-165)Atg>Gtg	p.M55V	VWA5A_ENST00000361352.5_Missense_Mutation_p.M55V|VWA5A_ENST00000392744.4_Missense_Mutation_p.M71V|VWA5A_ENST00000360334.4_Missense_Mutation_p.M55V|VWA5A_ENST00000392748.1_Missense_Mutation_p.M55V|VWA5A_ENST00000449321.1_Missense_Mutation_p.M55V	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	55	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGTGTTCCCCATGGATGAAGA	0.443																																						ENST00000456829.2											0			autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(163-165)Atg>Gtg	von Willebrand factor A domain containing 5A						151	153	152					11																	123988499		2201	4299	6500	SO:0001583	missense	4013						g.chr11:123988499A>G	AF002672	AF002672	CCDS8444.1, CCDS8445.1	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002	ENSG00000110002	ENSG00000110002				6658	6658	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602929	602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	9417908, 14504409	Standard	Standard	NM_001130142	NM_001130142		Approved	BCSC-1	uc001pzt.3	uc001pzt.3	O00534	O00534	OTTHUMG00000165971	OTTHUMG00000165971	ENST00000456829.2:c.163A>G	11.37:g.123988499A>G	ENSP00000407726:p.Met55Val		VWA5A_ENST00000392744.4_Missense_Mutation_p.M71V|VWA5A_ENST00000361352.5_Missense_Mutation_p.M55V|VWA5A_ENST00000392748.1_Missense_Mutation_p.M55V|VWA5A_ENST00000449321.1_Missense_Mutation_p.M55V|VWA5A_ENST00000360334.4_Missense_Mutation_p.M55V	p.M55V	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			4	414	+			55	VIT.	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.163A>G	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.365114	0.41902	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	5.6	4.48	0.54585	5.6	4.48	0.54585	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.103318	0.64402	D	0.000001	T	0.11707	0.0285	N	0.12853	0.265	0.35310	D	0.783829	B;B	0.16166	0.005;0.016	B;B	0.28305	0.015;0.088	T	0.09796	-1.0658	10	0.49607	T	0.09	-46.0508	5.2844	0.15692	0.7296:0.181:0.0894:0.0	.	71;55	B4DHS6;O00534	.;VMA5A_HUMAN	V	55;55;55;55;55;55;55;71	ENSP00000407726:M55V;ENSP00000353485:M55V;ENSP00000376504:M55V;ENSP00000355070:M55V;ENSP00000404683:M55V;ENSP00000376501:M71V	ENSP00000353485:M55V	M	+	1	0	0	VWA5A	123493709	123493709	0.982000	0.34865	1.000000	0.80357	0.969000	0.65631	1.223000	0.32527	2.140000	0.66376	0.533000	0.62120	ATG		0.443	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1		98.592821	25	25	130	130	NM_014622		32	98.742877	98.742877	39	0.450704	0	0	0	1	0	32	39	0.450704	G	123988499	A	G	123988499	3	3	20	1	0	0	0	0	1	0	0	0	17239	217	8	4	169	4	VWA5A	11	123988499	Missense_Mutation	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08		123988499	11018017	10	378											
RAP1GAP2	23108	broad.mit.edu	37	17	2699865	2699865	+	Splice_Site	DEL	G	G	-			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr17:2699865delG	ENST00000254695.8	+	1	134	c.44delG	c.(43-45)tgg>tg	p.W15fs	RAP1GAP2_ENST00000542807.1_Splice_Site_p.W15fs|RAP1GAP2_ENST00000366401.4_Splice_Site_p.W15fs|RAP1GAP2_ENST00000540393.2_Intron	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	15					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GGCTTCGGATGGTGGGTGACA	0.622																																						ENST00000254695.8											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(43-45)tgg>tg	RAP1 GTPase activating protein 2						16	19	18					17																	2699865		1912	4088	6000	SO:0001630	splice_region_variant	23108			regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2699865delG	AB028962	AB028962	CCDS45573.1, CCDS45574.1	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359		ENSG00000132359				29176	29176	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4	"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	15632203	Standard	Standard	NM_015085	NM_015085		Approved	KIAA1039	uc010ckd.3	uc010ckd.3	Q684P5	Q684P5			ENST00000254695.8:c.44+1G>-	17.37:g.2699865delG			RAP1GAP2_ENST00000540393.2_Intron|RAP1GAP2_ENST00000366401.4_Splice_Site_p.W15fs|RAP1GAP2_ENST00000542807.1_Splice_Site_p.W15fs	p.W15fs	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			1	134	+			15		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Splice_Site	DEL	ENST00000254695.8	37	c.44delG	CCDS45573.1																																																																																									0.622	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2	.	.	6	6	10	10		Frame_Shift_Del	2			4	0.33						2	4	0.33	-	2699865	G	-	2699865	8	5	20	1	0	1	0	1	0	0	1	0	13038	1362	47	0	46	0	RAP1GAP2	17	2699865	Splice_Site	DEL	G	TCGA-V4-A9EQ-01A-11D-A39W-08		2699865	78495345	11	379											
SLC4A1	6521	broad.mit.edu	37	17	42335930	42335930	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr17:42335930C>A	ENST00000262418.6	-	10	1093	c.938G>T	c.(937-939)gGc>gTc	p.G313V	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	313	Dimerization arm.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTCCAGGAAGCCCTCTAGGGA	0.647																																						ENST00000262418.6											0			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(937-939)gGc>gTc	solute carrier family 4 (anion exchanger), member 1						40	41	41					17																	42335930		2202	4299	6501	SO:0001583	missense	6521			bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335930C>A			CCDS11481.1	CCDS11481.1	17q21.31	2014-07-19	2014-01-02		2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939	ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	"CD molecules", "Blood group antigens", "Solute carriers"	11027	11027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	"Froese blood group", "Swann blood group", "Wright blood group"	109270	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	8434259	Standard	Standard	NM_000342	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	uc002igf.4	P02730	P02730	OTTHUMG00000156843	OTTHUMG00000156843	ENST00000262418.6:c.938G>T	17.37:g.42335930C>A	ENSP00000262418:p.Gly313Val		AC003043.1_ENST00000597382.1_Intron	p.G313V	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	10	1093	-		Breast(137;0.014)|Prostate(33;0.0181)	313		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.938G>T	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	N	12.17	1.858642	0.32791	.	.	ENSG00000004939	ENST00000262418	T	0.67865	-0.29	4.5	2.51	0.30379	4.5	2.51	0.30379	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.320832	0.32416	N	0.006133	T	0.66954	0.2842	L	0.52364	1.645	0.44635	D	0.997611	D;B	0.56968	0.978;0.284	P;B	0.57204	0.815;0.188	T	0.65438	-0.6168	10	0.72032	D	0.01	.	4.0537	0.09806	0.0:0.4817:0.168:0.3502	.	313;313	E2RVJ0;P02730	.;B3AT_HUMAN	V	313	ENSP00000262418:G313V	ENSP00000262418:G313V	G	-	2	0	0	SLC4A1	39691456	39691456	0.965000	0.33210	0.341000	0.25589	0.227000	0.25037	2.095000	0.41729	0.535000	0.28714	0.306000	0.20318	GGC		0.647	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1		37.469495	0	0	22	22	NM_000342		13	37.500811	37.500811	15	0.464286	1	0	5.50884e-06	1	5.50884e-06	13	15	0.464286	A	42335930	C	A	42335930	3	1	20	1	0	0	0	0	1	0	0	0	14650	739	26	5	1841	5	SLC4A1	17	42335930	Missense_Mutation	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08	39636065	42335930	38859280	12	380											
ABCA6	23460	broad.mit.edu	37	17	67119475	67119475	+	Silent	SNP	A	A	G			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr17:67119475A>G	ENST00000284425.2	-	10	1515	c.1341T>C	c.(1339-1341)aaT>aaC	p.N447N		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	447					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAACCTTAGCATTAGTCCTTT	0.368																																						ENST00000284425.2											0			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1339-1341)aaT>aaC	ATP-binding cassette, sub-family A (ABC1), member 6						112	108	109					17																	67119475		2203	4300	6503	SO:0001819	synonymous_variant	23460			transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67119475A>G	U66680	U66680	CCDS11683.1	CCDS11683.1	17q21	2012-03-14			2012-03-14			ENSG00000154262	ENSG00000154262	ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	"ATP binding cassette transporters / subfamily A"	36	36	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612504	612504						8894702	8894702	Standard	Standard	NM_080284	NM_080284		Approved	EST155051	uc002jhw.1	uc002jhw.1	Q8N139	Q8N139			ENST00000284425.2:c.1341T>C	17.37:g.67119475A>G				p.N447N	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			10	1515	-	Breast(10;5.65e-12)		447		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.1341T>C	CCDS11683.1																																																																																									0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1		43.210090	14	14	55	55	NM_080284		15	44.317073	44.317073	30	0.333333	0	0	0	1	0	15	30	0.333333	G	67119475	A	G	67119475	2	3	20	1	0	0	0	0	0	0	0	1	36	214	8	4		4	ABCA6	17	67119475	Silent	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08	24783545	67119475	14075735	13	381											
MC2R	4158	broad.mit.edu	37	18	13885067	13885067	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr18:13885067G>A	ENST00000327606.3	-	2	631	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	151					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATGACCGTAAGCACCACCACA	0.577																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(451-453)Ctt>Ttt	melanocortin 2 receptor (adrenocorticotropic hormone)						130	107	115					18																	13885067		2203	4300	6503	SO:0001583	missense	0			G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885067G>A			CCDS11869.1	CCDS11869.1	18p11.2	2012-08-10			2012-08-10			ENSG00000185231	ENSG00000185231	ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	"GPCR / Class A : Melanocortin receptors"	6930	6930	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607397	607397						8390157	8390157	Standard	Standard	NM_001291911	NM_001291911		Approved	ACTHR	uc002ksp.1	uc002ksp.1	Q01718	Q01718	OTTHUMG00000131721	OTTHUMG00000131721	ENST00000327606.3:c.451C>T	18.37:g.13885067G>A	ENSP00000333821:p.Leu151Phe			p.L151F	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	631	-			151		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.451C>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606582	0.28623	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.73047	-0.71	5.28	5.28	0.74379	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.83008	0.5161	M	0.80422	2.495	0.29368	N	0.864217	D	0.89917	1.0	D	0.85130	0.997	T	0.80211	-0.1476	10	0.87932	D	0	.	10.5734	0.45212	0.1498:0.0:0.8502:0.0	.	151	Q01718	ACTHR_HUMAN	F	151	ENSP00000333821:L151F	ENSP00000333821:L151F	L	-	1	0	0	MC2R	13875067	13875067	0.519000	0.26242	0.045000	0.18777	0.001000	0.01503	0.914000	0.28624	2.469000	0.83416	0.655000	0.94253	CTT		0.577	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		50.197173	0	0	53	53			16	50.253043	50.253043	19	0.457143	0	0	0	1	0	16	19	0.457143	A	13885067	G	A	13885067	3	1	20	1	0	0	0	0	1	0	0	0	9364	971	34	2	446	2	MC2R	18	13885067	Missense_Mutation	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08		13885067	64192181	14	382											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		62.262923	12	12	93	93	NM_002067		21	63.129194	63.129194	36	0.368421	0	0	0	1	0	21	36	0.368421	T	3118942	A	T	3118942	3	4	20	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08		3118942	56010041	15	383											
ZNF845	91664	broad.mit.edu	37	19	53855032	53855032	+	Silent	SNP	A	A	G			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	g.chr19:53855032A>G	ENST00000595091.1	+	5	1323	c.1104A>G	c.(1102-1104)tcA>tcG	p.S368S	ZNF845_ENST00000458035.1_Silent_p.S368S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.403																																						ENST00000458035.1											0			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1102-1104)tcA>tcG	zinc finger protein 845						31	30	30					19																	53855032		692	1591	2283	SO:0001819	synonymous_variant	91664			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855032A>G	BC007307	BC007307	CCDS46170.1	CCDS46170.1	19q13.42	2013-01-08			2013-01-08			ENSG00000213799	ENSG00000213799	ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	25112	25112	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_138374	NM_138374		Approved		uc010ydv.1	uc010ydv.1	Q96IR2	Q96IR2			ENST00000595091.1:c.1104A>G	19.37:g.53855032A>G			ZNF845_ENST00000595091.1_Silent_p.S368S	p.S368S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1221	+			368			Silent	SNP	ENST00000595091.1	37	c.1104A>G	CCDS46170.1																																																																																									0.403	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		2.801436	-13	-13	58	58	XM_039908		3	6.360424	6.360424	22	0.12	0	0	0	1	0	3	22	0.12	G	53855032	A	G	53855032	2	3	20	1	0	0	0	0	0	0	0	1	18188	117	5	4		4	ZNF845	19	53855032	Silent	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08	50736090	53855032	5273951	16	384											
SPOCD1	90853	broad.mit.edu	37	1	32258997	32258999	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr1:32258997_32258999delGCA	ENST00000360482.2	-	13	2694_2696	c.2565_2567delTGC	c.(2563-2568)gctgca>gca	p.855_856AA>A	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_In_Frame_Del_p.348_349AA>A|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_In_Frame_Del_p.855_856AA>A	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	855					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTTTGTGGGTGCAGCAGGCACAT	0.635																																						ENST00000360482.2											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2563-2568)gctgca>gca	SPOC domain containing 1																																			SO:0001651	inframe_deletion	90853			transcription, DNA-dependent			g.chr1:32258997_32258999delGCA	AK058077	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			2014-06-13			ENSG00000134668	ENSG00000134668	ENSG00000134668	ENSG00000134668				26338	26338	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"	"protein phosphatase 1, regulatory subunit 146"								12477932	12477932	Standard	Standard	NM_144569	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	uc001bts.1	Q6ZMY3	Q6ZMY3	OTTHUMG00000003879	OTTHUMG00000003879	ENST00000360482.2:c.2565_2567delTGC	1.37:g.32259000_32259002delGCA	ENSP00000353670:p.Ala856del		SPOCD1_ENST00000533231.1_In_Frame_Del_p.855_856AA>A|SPOCD1_ENST00000257100.3_In_Frame_Del_p.348_349AA>A|SPOCD1_ENST00000373648.2_3'UTR	p.855_856AA>A	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	13	2694_2696	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	855		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	In_Frame_Del	DEL	ENST00000360482.2	37	c.2565_2567delTGC	CCDS347.1																																																																																									0.635	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	.	.	3	3	7	7	NM_144569		2			4	0.33						2	4	0.33	-	32258999	GCA	-	32258997	7	5	21	1	0	1	0	1	0	0	0	0	15077	1319	46	0	1099	0	SPOCD1	1	32258997	In_Frame_Del	DEL	GCA	TCGA-V4-A9ES-01A-11D-A39W-08		32258997	216991624	1	385											
C2orf65	130951	broad.mit.edu	37	2	74842189	74842189	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr2:74842189C>G	ENST00000290536.5	-	3	444	c.328G>C	c.(328-330)Gct>Cct	p.A110P	M1AP_ENST00000409585.1_Missense_Mutation_p.A110P|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.A110P	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	110					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CGCAGAGAAGCACCTTGTGAT	0.502																																						ENST00000290536.5											0										c.(328-330)Gct>Cct	meiosis 1 associated protein						197	174	181					2																	74842189		2203	4300	6503	SO:0001583	missense	130951						g.chr2:74842189C>G			CCDS33229.1, CCDS62941.1	CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374	ENSG00000159374	ENSG00000159374				25183	25183	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"meiosis 1 arresting protein", "spermatogenesis associated 37"	"meiosis 1 arresting protein", "spermatogenesis associated 37"			"chromosome 2 open reading frame 65"	C2orf65	"chromosome 2 open reading frame 65"	C2orf65		16881047, 23269666	16881047, 23269666	Standard	Standard	NM_138804	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	uc002smy.3	Q8TC57	Q8TC57	OTTHUMG00000152918	OTTHUMG00000152918	ENST00000290536.5:c.328G>C	2.37:g.74842189C>G	ENSP00000290536:p.Ala110Pro		M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.A110P|M1AP_ENST00000536235.1_Missense_Mutation_p.A110P	p.A110P	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2					3	444	-					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.328G>C	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624203	0.46840	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000421985	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.77	-9.22	0.00675	5.77	-9.22	0.00675	.	1.171000	0.05923	N	0.633807	T	0.16514	0.0397	L	0.36672	1.1	0.09310	N	0.999999	B;P;B	0.40875	0.118;0.731;0.118	B;B;B	0.38616	0.059;0.277;0.059	T	0.28681	-1.0036	10	0.38643	T	0.18	-2.0647	2.7063	0.05163	0.2482:0.4203:0.1161:0.2154	.	110;110;110	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	P	110	ENSP00000290536:A110P;ENSP00000386793:A110P;ENSP00000445662:A110P;ENSP00000414882:A110P	ENSP00000290536:A110P	A	-	1	0	0	C2orf65	74695697	74695697	0.000000	0.05858	0.000000	0.03702	0.556000	0.35491	-0.281000	0.08456	-0.854000	0.04131	-0.438000	0.05819	GCT		0.502	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1		126.826207	-13	-13	72	72	NM_138804		39	126.852242	126.852242	36	0.52	0	0	0	1	0	39	36	0.52	G	74842189	C	G	74842189	3	3	21	1	0	0	0	0	1	0	0	0	2184	710	25	5	1300	5	C2orf65	2	74842189	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		74842189	168357184	2	386											
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95	92	93					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		41.638899	-8	-8	47	47			14	42.548884	42.548884	27	0.341463	0	0	0	1	0	14	27	0.341463	T	198267483	C	T	198267483	3	4	21	1	0	0	0	0	1	0	0	0	14149	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08	123425294	198267483	44931890	3	387											
CAP2	10486	broad.mit.edu	37	6	17541321	17541321	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr6:17541321C>A	ENST00000229922.2	+	9	1476	c.944C>A	c.(943-945)tCt>tAt	p.S315Y	CAP2_ENST00000378990.2_Missense_Mutation_p.S289Y|CAP2_ENST00000465994.1_Missense_Mutation_p.S251Y|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Missense_Mutation_p.S203Y	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	315					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCTCCTAAATCTTATCCTTCT	0.453																																						ENST00000229922.2											0			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(943-945)tCt>tAt	CAP, adenylate cyclase-associated protein, 2 (yeast)						151	133	139					6																	17541321		2203	4300	6503	SO:0001583	missense	10486			activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17541321C>A	BC008481	BC008481	CCDS4539.1	CCDS4539.1	6p22.3	2008-02-05			2008-02-05			ENSG00000112186	ENSG00000112186	ENSG00000112186	ENSG00000112186				20039	20039	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										7962207, 8761950	7962207, 8761950	Standard	Standard	NM_006366	NM_006366		Approved		uc003ncb.3	uc003ncb.3	P40123	P40123	OTTHUMG00000014311	OTTHUMG00000014311	ENST00000229922.2:c.944C>A	6.37:g.17541321C>A	ENSP00000229922:p.Ser315Tyr		CAP2_ENST00000465994.1_Missense_Mutation_p.S251Y|CAP2_ENST00000489374.1_Missense_Mutation_p.S203Y|CAP2_ENST00000378990.2_Missense_Mutation_p.S289Y|CAP2_ENST00000493172.1_Intron	p.S315Y	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		9	1476	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	315		B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.944C>A	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	c	11.87	1.766995	0.31320	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000465994	T;T;T;T	0.09350	3.0;2.99;2.99;2.99	5.56	5.56	0.83823	5.56	5.56	0.83823	.	0.396544	0.29892	N	0.010930	T	0.06781	0.0173	L	0.42245	1.32	0.23483	N	0.997584	P;P;P;P	0.49447	0.924;0.566;0.773;0.731	B;B;B;B	0.44085	0.44;0.197;0.212;0.243	T	0.06752	-1.0809	10	0.62326	D	0.03	-17.6776	14.3707	0.66838	0.1571:0.8429:0.0:0.0	.	203;251;289;315	B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;CAP2_HUMAN	Y	315;232;203;289;251	ENSP00000229922:S315Y;ENSP00000417705:S203Y;ENSP00000368275:S289Y;ENSP00000418604:S251Y	ENSP00000229922:S315Y	S	+	2	0	0	CAP2	17649300	17649300	0.000000	0.05858	0.111000	0.21465	0.323000	0.28346	0.949000	0.29109	2.775000	0.95449	0.563000	0.77884	TCT		0.453	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2		80.273409	-14	-14	81	81			28	81.977679	81.977679	53	0.345679	1	0	7.01153e-11	1	7.74959e-11	28	53	0.345679	A	17541321	C	A	17541321	3	1	21	1	0	0	0	0	1	0	0	0	2620	913	32	5	974	5	CAP2	6	17541321	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		17541321	153573746	4	388											
TRPM6	140803	broad.mit.edu	37	9	77390841	77390841	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr9:77390841G>C	ENST00000360774.1	-	24	3598	c.3361C>G	c.(3361-3363)Cat>Gat	p.H1121D	TRPM6_ENST00000361255.3_Missense_Mutation_p.H1116D|TRPM6_ENST00000449912.2_Missense_Mutation_p.H1116D|TRPM6_ENST00000451710.3_Missense_Mutation_p.H1121D|TRPM6_ENST00000376864.4_Missense_Mutation_p.H1121D|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1121					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAGCTCGATGACAGCACAGG	0.547																																						ENST00000451710.3											0			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3361-3363)Cat>Gat	transient receptor potential cation channel, subfamily M, member 6						101	107	105					9																	77390841		2203	4300	6503	SO:0001583	missense	140803			response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77390841G>C	AK026281	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	17995	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607009	607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	10021370, 12032570, 16382100	Standard	Standard	NM_017662	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	uc004ajk.1	Q9BX84	Q9BX84	OTTHUMG00000020027	OTTHUMG00000020027	ENST00000360774.1:c.3361C>G	9.37:g.77390841G>C	ENSP00000354006:p.His1121Asp		TRPM6_ENST00000361255.3_Missense_Mutation_p.H1116D|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.H1121D|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.H1116D|TRPM6_ENST00000360774.1_Missense_Mutation_p.H1121D	p.H1121D			Q9BX84	TRPM6_HUMAN			24	3598	-			1121		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.3361C>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	3.188	-0.166340	0.06461	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.54866	0.64;0.64;0.65;0.64;0.55	5.87	2.65	0.31530	5.87	2.65	0.31530	.	0.459434	0.26258	N	0.025418	T	0.41673	0.1169	L	0.47716	1.5	0.09310	N	1	P;B;P	0.37233	0.453;0.037;0.588	B;B;B	0.31869	0.065;0.098;0.137	T	0.38090	-0.9677	10	0.66056	D	0.02	.	10.8779	0.46921	0.2296:0.0:0.7704:0.0	.	1121;1116;1116	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	D	1121;1121;1116;1116;1121;784;784	ENSP00000354006:H1121D;ENSP00000407341:H1121D;ENSP00000396672:H1116D;ENSP00000354962:H1116D;ENSP00000366060:H1121D	ENSP00000309693:H784D	H	-	1	0	0	TRPM6	76580661	76580661	0.005000	0.15991	0.001000	0.08648	0.002000	0.02628	1.555000	0.36277	0.844000	0.35094	-0.229000	0.12294	CAT		0.547	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		60.906783	-36	-36	50	50	NM_017662		22	66.082672	66.082672	67	0.247191	0	0	0	1	0	22	67	0.247191	C	77390841	G	C	77390841	3	2	21	1	0	0	0	0	1	0	0	0	16587	1290	45	5	2771	5	TRPM6	9	77390841	Missense_Mutation	SNP	G	TCGA-V4-A9ES-01A-11D-A39W-08		77390841	63822590	5	389											
GNAQ	2776	broad.mit.edu	37	9	80412493	80412493	+	Missense_Mutation	SNP	C	C	T	rs397514698		TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr9:80412493C>T	ENST00000286548.4	-	4	770	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183			R -> Q (in SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control). {ECO:0000269|PubMed:22307269, ECO:0000269|PubMed:23656586}.		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.R183Q(9)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GGTGGGGACTCGAACTCTAAG	0.468			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	9	Substitution - Missense(9)	eye(8)|meninges(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(547-549)cGa>cAa	guanine nucleotide binding protein (G protein), q polypeptide						154	118	130					9																	80412493		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80412493C>T			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.548G>A	9.37:g.80412493C>T	ENSP00000286548:p.Arg183Gln		GNAQ_ENST00000397476.3_5'UTR	p.R183Q	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			4	770	-			183		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.548G>A	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	37	6.263420	0.97421	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	D;D	0.91740	-2.9;-2.9	5.88	5.88	0.94601	5.88	5.88	0.94601	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.96547	3.84	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.98057	1.0391	10	0.87932	D	0	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	183	P50148	GNAQ_HUMAN	Q	183;154	ENSP00000286548:R183Q;ENSP00000391501:R154Q	ENSP00000286548:R183Q	R	-	2	0	0	GNAQ	79602313	79602313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.048000	0.71046	2.778000	0.95560	0.655000	0.94253	CGA		0.468	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		180.805498	-6	-6	52	52	NM_002072		55	181.345594	181.345594	40	0.578947	0	0	0	1	0	55	40	0.578947	T	80412493	C	T	80412493	3	4	21	1	0	0	0	0	1	0	0	0	6509	884	31	1	547	1	GNAQ	9	80412493	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08	3021652	80412493	60800938	6	390											
OR2D3	120775	broad.mit.edu	37	11	6943043	6943043	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr11:6943043G>A	ENST00000317834.3	+	1	839	c.811G>A	c.(811-813)Gga>Aga	p.G271R		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTATGGGTCAGGAATATTCAC	0.443																																						ENST00000317834.3											0			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(811-813)Gga>Aga	olfactory receptor, family 2, subfamily D, member 3						108	105	106					11																	6943043		2201	4296	6497	SO:0001583	missense	120775			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6943043G>A	BK004294	BK004294	CCDS31417.1	CCDS31417.1	11p15.4	2012-08-09			2012-08-09			ENSG00000178358	ENSG00000178358	ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	15146	15146	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004684	NM_001004684		Approved		uc010rav.2	uc010rav.2	Q8NGH3	Q8NGH3	OTTHUMG00000165742	OTTHUMG00000165742	ENST00000317834.3:c.811G>A	11.37:g.6943043G>A	ENSP00000320560:p.Gly271Arg			p.G271R	NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	839	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	271		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.811G>A	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520525	0.44866	.	.	ENSG00000178358	ENST00000317834	T	0.00158	8.65	4.95	4.04	0.47022	4.95	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.533866	0.15627	N	0.252605	T	0.00384	0.0012	M	0.82056	2.57	0.22266	N	0.99925	D	0.53462	0.96	P	0.60609	0.877	T	0.42447	-0.9451	10	0.66056	D	0.02	-0.9209	7.7915	0.29123	0.1848:0.0:0.8152:0.0	.	271	Q8NGH3	OR2D3_HUMAN	R	271	ENSP00000320560:G271R	ENSP00000320560:G271R	G	+	1	0	0	OR2D3	6899619	6899619	0.000000	0.05858	0.993000	0.49108	0.234000	0.25298	0.513000	0.22770	1.463000	0.47967	0.655000	0.94253	GGA		0.443	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1		142.299221	-14	-14	78	78	NM_001004684		44	142.301692	142.301692	43	0.505747	0	0	0	1	0	44	43	0.505747	A	6943043	G	A	6943043	3	1	21	1	0	0	0	0	1	0	0	0	10995	1001	35	3	813	3	OR2D3	11	6943043	Missense_Mutation	SNP	G	TCGA-V4-A9ES-01A-11D-A39W-08		6943043	128063473	7	391											
CBX5	23468	broad.mit.edu	37	12	54651299	54651299	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr12:54651299C>T	ENST00000439541.2	-	2	261	c.136G>A	c.(136-138)Gag>Aag	p.E46K	RN7SL390P_ENST00000470634.2_RNA|CBX5_ENST00000550411.1_Splice_Site_p.E46K|CBX5_ENST00000209875.4_Splice_Site_p.E46K	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	46	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						GGAACTTACTCAGAAAAGCCT	0.443																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(136-138)Gag>Aag	chromobox homolog 5						126	122	123					12																	54651299		2203	4300	6503	SO:0001630	splice_region_variant	23468			blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54651299C>T	U26311	U26311	CCDS8875.1	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916	ENSG00000094916	ENSG00000094916				1555	1555	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"HP1 alpha homolog (Drosophila)"	"HP1 alpha homolog (Drosophila)"	604478	604478	"chromobox homolog 5 (Drosophila HP1 alpha)", "chromobox homolog 5 (HP1 alpha homolog, Drosophila)"		"chromobox homolog 5 (Drosophila HP1 alpha)", "chromobox homolog 5 (HP1 alpha homolog, Drosophila)"			8663349	8663349	Standard	Standard	NM_012117	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	uc001sfj.4	P45973	P45973			ENST00000439541.2:c.137+1G>A	12.37:g.54651299C>T			CBX5_ENST00000550411.1_Splice_Site_p.E46K|CBX5_ENST00000439541.2_Splice_Site_p.E46K	p.E46K	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			2	272	-			46	Chromo 1.	B2R8T9	Splice_Site	SNP	ENST00000439541.2	37	c.136G>A	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794832	0.90453	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.65	5.65	0.86999	5.65	5.65	0.86999	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.049963	0.85682	D	0.000000	T	0.70842	0.3270	M	0.66439	2.03	0.80722	D	1	P;P	0.46784	0.884;0.662	B;B	0.40329	0.306;0.326	T	0.75952	-0.3136	10	0.72032	D	0.01	-18.9389	17.2626	0.87075	0.0:1.0:0.0:0.0	.	46;46	G3V1X9;P45973	.;CBX5_HUMAN	K	46	ENSP00000209875:E46K;ENSP00000401009:E46K;ENSP00000449207:E46K;ENSP00000450190:E46K	ENSP00000209875:E46K	E	-	1	0	0	CBX5	52937566	52937566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.446000	0.80609	2.941000	0.99782	0.655000	0.94253	GAG		0.443	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1		72.374164	18	18	89	89	NM_012117	Missense_Mutation	25	73.127419	73.127419	40	0.384615	0	0	0	1	0	25	40	0.384615	T	54651299	C	T	54651299	5	4	21	1	0	0	0	0	0	0	1	0	2721	840	29	3	455	3	CBX5	12	54651299	Splice_Site	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		54651299	79200596	8	392											
FGF7	2252	broad.mit.edu	37	15	49776572	49776572	+	Silent	SNP	A	A	C			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		ACACATATGCATCAGCTAAAT	0.338																																						ENST00000267843.4											1	Substitution - coding silent(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(454-456)gcA>gcC	fibroblast growth factor 7						55	53	54					15																	49776572		2037	3875	5912	SO:0001819	synonymous_variant	2252			actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776572A>C	M60828	M60828	CCDS10131.1	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285	ENSG00000140285	ENSG00000140285		"Endogenous ligands"	"Endogenous ligands"	3685	3685	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"keratinocyte growth factor"	"keratinocyte growth factor"	148180	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"		"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	7749227, 1409637	Standard	Standard	NM_002009	NM_002009		Approved	KGF	uc001zxn.3	uc001zxn.3	P21781	P21781	OTTHUMG00000131517	OTTHUMG00000131517	ENST00000267843.4:c.456A>C	15.37:g.49776572A>C			FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	p.A152A	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1067	+		all_lung(180;0.00391)	152		H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.456A>C	CCDS10131.1																																																																																									0.338	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3		-3.620512	-24	-24	72	72	NM_002009		3	7.32617	7.32617	50	0.056604	0	0	0	1	0	3	50	0.056604	C	49776572	A	C	49776572	2	2	21	1	0	0	0	0	0	0	0	1	5857	204	8	5		5	FGF7	15	49776572	Silent	SNP	A	TCGA-V4-A9ES-01A-11D-A39W-08		49776572	52754820	9	393											
TTLL13	440307	broad.mit.edu	37	15	90799479	90799479	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr15:90799479C>T	ENST00000339615.5	+	6	945	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000438251.1_Missense_Mutation_p.R219W	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CCGAAATCCCCGGGAGATCAA	0.557																																						ENST00000438251.1											0			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16						c.(655-657)Cgg>Tgg	tubulin tyrosine ligase-like family, member 13						103	95	98					15																	90799479		2199	4298	6497	SO:0001583	missense	440307			protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr15:90799479C>T	BC036668	BC036668			15q26.1	2013-02-14			2013-02-14				ENSG00000213471		ENSG00000213471		"Tubulin tyrosine ligase-like family"	"Tubulin tyrosine ligase-like family"	32484	32484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										15890843	15890843	Standard	Standard	NR_104604	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	uc002bpd.1	A6NNM8	A6NNM8			ENST00000339615.5:c.655C>T	15.37:g.90799479C>T	ENSP00000345294:p.Arg219Trp		RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000339615.5_Missense_Mutation_p.R219W	p.R219W			A6NNM8	TTL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		6	945	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		219	TTL.		Missense_Mutation	SNP	ENST00000339615.5	37	c.655C>T	CCDS32328.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472290	0.63737	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.08102	3.13;3.13	5.09	1.93	0.25924	5.09	1.93	0.25924	.	0.625953	0.15602	N	0.253857	T	0.19685	0.0473	L	0.54323	1.7	0.21933	N	0.999462	D	0.64830	0.994	D	0.66716	0.946	T	0.03945	-1.0990	10	0.87932	D	0	.	8.7396	0.34550	0.5396:0.3177:0.1427:0.0	.	219	A6NNM8-2	.	W	219	ENSP00000413362:R219W;ENSP00000345294:R219W	ENSP00000345294:R219W	R	+	1	2	2	TTLL13	88600483	88600483	0.951000	0.32395	0.868000	0.34077	0.992000	0.81027	2.108000	0.41854	0.227000	0.20999	0.491000	0.48974	CGG		0.557	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435854.1		104.407757	-12	-12	69	69	NM_001029964		28	104.407757	104.407757	0	1	0	0	0	1	0	28	0	1	T	90799479	C	T	90799479	3	4	21	1	0	0	0	0	1	0	0	0	16723	643	23	1	673	1	TTLL13	15	90799479	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08	41022907	90799479	11731913	10	394											
KATNB1	3801	hgsc.bcm.edu	37	16	57789768	57789768	+	IGR	SNP	G	G	T			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr16:57789768G>T	ENST00000379655.4	-	0	3427				KATNB1_ENST00000379661.3_Missense_Mutation_p.A528S	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGTGGACTCCGCTGTGGCCAT	0.637																																																	0																	71	66	67					16																	57789768		2198	4300	6498	SO:0001628	intergenic_variant	10300							BC001211	AF052432	CCDS10789.2, CCDS45493.1, CCDS45494.1	CCDS10788.1	16q13-q21	2008-02-05			2013-01-09	2003-03-13		ENSG00000140859	ENSG00000140859	ENSG00000140854	ENSG00000140854		"Kinesins"	"WD repeat domain containing"	6326	6217	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604535	602703			"katanin p80 (WD40-containing) subunit B 1"			9782090	9568719	Standard	Standard	NM_001130099	XM_006721121		Approved		uc002emp.3	uc002eml.1	Q9BVG8	Q9BVA0	OTTHUMG00000133455	OTTHUMG00000133467		16.37:g.57789768G>T																		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37		CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462701	0.84425	.	.	ENSG00000140854	ENST00000379661	T	0.58506	0.33	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.048537	0.85682	D	0.000000	T	0.74374	0.3708	M	0.85197	2.74	0.58432	D	0.999999	D	0.53885	0.963	P	0.54856	0.762	T	0.80046	-0.1546	10	0.72032	D	0.01	-12.4735	17.4143	0.87495	0.0:0.0:1.0:0.0	.	528	Q9BVA0	KTNB1_HUMAN	S	528	ENSP00000368982:A528S	ENSP00000368982:A528S	A	+	1	0	0	KATNB1	56347269	56347269	1.000000	0.71417	0.113000	0.21522	0.538000	0.34931	7.564000	0.82326	2.371000	0.80710	0.561000	0.74099	GCT		0.637	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2			0	0	29	29	NM_005550		4			23							4	23		T	57789768	G	T	57789768	1	4	21	0	1	0	0	0	0	0	0	0	7987	1087	38	5		5	KATNB1	16	57789768	IGR	SNP	G	TCGA-V4-A9ES-01A-11D-A39W-08		57789768	32564985	11	395											
EVPLL	645027	broad.mit.edu	37	17	18286814	18286814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr17:18286814delG	ENST00000399134.4	+	9	1147	c.789delG	c.(787-789)cagfs	p.Q263fs	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	263										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGCCCACCAGGAGGCCCTGA	0.692																																						ENST00000399134.4											0			NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(787-789)cagfs	envoplakin-like						38	35	36					17																	18286814		692	1591	2283	SO:0001589	frameshift_variant	645027						g.chr17:18286814delG			CCDS45626.1	CCDS45626.1	17p11.2	2009-08-25			2009-08-25			ENSG00000214860	ENSG00000214860	ENSG00000214860	ENSG00000214860				35236	35236	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001145127	NM_001145127		Approved		uc002gte.3	uc002gte.3	A8MZ36	A8MZ36	OTTHUMG00000059095	OTTHUMG00000059095	ENST00000399134.4:c.789delG	17.37:g.18286814delG	ENSP00000382086:p.Gln263fs		RP1-37N7.1_ENST00000579352.1_RNA	p.Q263fs	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN			9	1147	+			263		B4DPD4	Frame_Shift_Del	DEL	ENST00000399134.4	37	c.789delG	CCDS45626.1																																																																																									0.692	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	.	.	0	0	10	10	NM_001145127		2			4	0.33						2	4	0.33	-	18286814	G	-	18286814	7	5	21	1	0	1	0	1	0	0	0	0	5293	991	35	0	819	0	EVPLL	17	18286814	Frame_Shift_Del	DEL	G	TCGA-V4-A9ES-01A-11D-A39W-08		18286814	62908396	12	396											
ZNF560	147741	broad.mit.edu	37	19	9578390	9578390	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr19:9578390T>A	ENST00000301480.4	-	10	1446	c.1233A>T	c.(1231-1233)aaA>aaT	p.K411N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	411					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(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TACCAAAGGCTTTACCACATT	0.448																																						ENST00000301480.4											0			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1231-1233)aaA>aaT	zinc finger protein 560						70	71	71					19																	9578390		2203	4300	6503	SO:0001583	missense	147741			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578390T>A	AK056548	AK056548	CCDS12214.1	CCDS12214.1	19p13.2	2013-09-20			2013-09-20			ENSG00000198028	ENSG00000198028	ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	26484	26484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_152476	NM_152476		Approved	FLJ31986	uc002mlp.1	uc002mlp.1	Q96MR9	Q96MR9	OTTHUMG00000180130	OTTHUMG00000180130	ENST00000301480.4:c.1233A>T	19.37:g.9578390T>A	ENSP00000301480:p.Lys411Asn			p.K411N	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1446	-			411		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1233A>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.752932	0.69648	.	.	ENSG00000198028	ENST00000301480	T	0.27890	1.64	1.95	1.95	0.26073	1.95	1.95	0.26073	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61009	0.2313	M	0.93808	3.46	0.22926	N	0.99855	D	0.89917	1.0	D	0.91635	0.999	T	0.47724	-0.9095	9	0.72032	D	0.01	.	7.8162	0.29260	0.0:0.0:0.0:1.0	.	411	Q96MR9	ZN560_HUMAN	N	411	ENSP00000301480:K411N	ENSP00000301480:K411N	K	-	3	2	2	ZNF560	9439390	9439390	0.029000	0.19370	0.012000	0.15200	0.945000	0.59286	0.399000	0.20916	1.137000	0.42214	0.402000	0.26972	AAA		0.448	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1		48.825154	-36	-36	27	27	NM_152476		15	48.825154	48.825154	15	0.5	0	0	0	1	0	15	15	0.5	A	9578390	T	A	9578390	3	1	21	1	0	0	0	0	1	0	0	0	17988	1606	56	5	1143	5	ZNF560	19	9578390	Missense_Mutation	SNP	T	TCGA-V4-A9ES-01A-11D-A39W-08		9578390	49550593	13	397											
DEPDC5	9681	broad.mit.edu	37	22	32215199	32215199	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chr22:32215199A>G	ENST00000382112.3	+	21	1928	c.1858A>G	c.(1858-1860)Act>Gct	p.T620A	DEPDC5_ENST00000382105.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000266091.3_Missense_Mutation_p.T620A|DEPDC5_ENST00000535622.1_Missense_Mutation_p.T620A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000400246.1_Missense_Mutation_p.T620A|DEPDC5_ENST00000536766.1_Missense_Mutation_p.T592A|DEPDC5_ENST00000400248.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.T620A	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	620					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGGATGCACACTTTTCCTGT	0.557																																						ENST00000400246.1											0			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1858-1860)Act>Gct	DEP domain containing 5						97	96	96					22																	32215199		1995	4179	6174	SO:0001583	missense	9681			intracellular signal transduction			g.chr22:32215199A>G	AB014545	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			2013-04-29			ENSG00000100150	ENSG00000100150	ENSG00000100150	ENSG00000100150				18423	18423	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614191	614191						23542697, 23542701	23542697, 23542701	Standard	Standard	NM_001242896	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	uc011alu.2	O75140	O75140	OTTHUMG00000030926	OTTHUMG00000030926	ENST00000382112.3:c.1858A>G	22.37:g.32215199A>G	ENSP00000371546:p.Thr620Ala		DEPDC5_ENST00000536766.1_Missense_Mutation_p.T592A|DEPDC5_ENST00000382105.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000266091.3_Missense_Mutation_p.T620A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000400248.2_Missense_Mutation_p.T620A|DEPDC5_ENST00000382112.3_Missense_Mutation_p.T620A|DEPDC5_ENST00000535622.1_Missense_Mutation_p.T620A	p.T620A			O75140	DEPD5_HUMAN			22	2000	+			620		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1858A>G	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.97|18.97	3.734977|3.734977	0.69189|0.69189	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000536766;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T|T;T;T;T;T;T;T;T;T	0.70516|0.32272	-0.49|1.53;1.46;1.87;1.86;1.85;1.48;1.86;1.85;1.86	5.8|5.8	5.8|5.8	0.92144|0.92144	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47563|0.47563	0.1452|0.1452	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.76494	.|0.998;0.996;0.982;0.998;0.999;0.997	.|D;D;D;D;P;D	.|0.80764	.|0.989;0.987;0.952;0.994;0.907;0.985	T|T	0.39820|0.39820	-0.9595|-0.9595	7|10	0.87932|0.07030	D|T	0|0.85	.|.	15.3408|15.3408	0.74296|0.74296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|620;592;620;620;620;620	.|B9EGN9;F5GYZ8;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	R|A	17|620;592;620;620;620;620;620;620;620;620	ENSP00000410544:H17R|ENSP00000440210:T620A;ENSP00000441358:T592A;ENSP00000266091:T620A;ENSP00000383108:T620A;ENSP00000383105:T620A;ENSP00000371539:T620A;ENSP00000371546:T620A;ENSP00000371545:T620A;ENSP00000383107:T620A	ENSP00000410544:H17R|ENSP00000266091:T620A	H|T	+|+	2|1	0|0	0|0	DEPDC5|DEPDC5	30545199|30545199	30545199|30545199	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	9.179000|9.179000	0.94861|0.94861	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	CAC|ACT		0.557	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		109.457774	-30	-30	43	43	NM_014662		34	109.461245	109.461245	33	0.507463	0	0	0	1	0	34	33	0.507463	G	32215199	A	G	32215199	3	3	21	1	0	0	0	0	1	0	0	0	4442	159	6	4	1958	4	DEPDC5	22	32215199	Missense_Mutation	SNP	A	TCGA-V4-A9ES-01A-11D-A39W-08		32215199	19089367	14	398											
CDKL5	6792	broad.mit.edu	37	X	18606258	18606258	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chrX:18606258C>A	ENST00000379989.3	+	10	1024	c.739C>A	c.(739-741)Ctc>Atc	p.L247I	CDKL5_ENST00000379996.3_Missense_Mutation_p.L247I	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTTCCATGGGCTCCGGGTAAG	0.398																																						ENST00000379989.3											0			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(739-741)Ctc>Atc	cyclin-dependent kinase-like 5						137	134	135					X																	18606258		2203	4300	6503	SO:0001583	missense	6792			neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18606258C>A	Y15057	Y15057	CCDS14186.1	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	"Cyclin-dependent kinases"	11411	11411	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300203	300203	"serine/threonine kinase 9"	STK9	"serine/threonine kinase 9"	STK9		9721213, 16935860	9721213, 16935860	Standard	Standard	XM_005274584	XM_005274584		Approved	EIEE2	uc004cym.3	uc004cym.3	O76039	O76039	OTTHUMG00000021214	OTTHUMG00000021214	ENST00000379989.3:c.739C>A	X.37:g.18606258C>A	ENSP00000369325:p.Leu247Ile		CDKL5_ENST00000379996.3_Missense_Mutation_p.L247I	p.L247I	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			10	1024	+	Hepatocellular(33;0.183)		247	Protein kinase.	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.739C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079688	0.36662	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.45276	0.9;0.9	6.08	6.08	0.98989	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.113441	0.64402	D	0.000007	T	0.27933	0.0688	N	0.11651	0.15	0.38775	D	0.954634	B	0.32409	0.37	B	0.38921	0.285	T	0.26916	-1.0089	10	0.38643	T	0.18	-14.4401	9.7296	0.40352	0.1401:0.7862:0.0:0.0736	.	247	O76039	CDKL5_HUMAN	I	247	ENSP00000369332:L247I;ENSP00000369325:L247I	ENSP00000369325:L247I	L	+	1	0	0	CDKL5	18516179	18516179	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	1.414000	0.34736	2.574000	0.86865	0.583000	0.79449	CTC		0.398	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2		-40.470913	-33	-33	172	172	NM_003159		4	6.841789	6.841789	181	0.021622	1	0	1	1	1	4	181	0.021622	A	18606258	C	A	18606258	3	1	21	1	0	0	0	0	1	0	0	0	3157	797	28	5	769	5	CDKL5	23	18606258	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		18606258	136664302	15	399											
BCOR	54880	broad.mit.edu	37	X	39932447	39932447	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chrX:39932447C>G	ENST00000378444.4	-	4	2380	c.2152G>C	c.(2152-2154)Gat>Cat	p.D718H	BCOR_ENST00000342274.4_Missense_Mutation_p.D718H|BCOR_ENST00000378455.4_Missense_Mutation_p.D718H|BCOR_ENST00000397354.3_Missense_Mutation_p.D718H	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	718					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCCAGGGCATCTTGGTAGGTC	0.557			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2152-2154)Gat>Cat	BCL6 corepressor						49	48	49					X																	39932447		2202	4300	6502	SO:0001583	missense	54880			heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932447C>G	AF317391	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337	ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	20893	20893	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300485	300485	"BCL6 co-repressor"		"BCL6 co-repressor"			10898795	10898795	Standard	Standard	NM_017745	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	uc004den.4	Q6W2J9	Q6W2J9	OTTHUMG00000024100	OTTHUMG00000024100	ENST00000378444.4:c.2152G>C	X.37:g.39932447C>G	ENSP00000367705:p.Asp718His		BCOR_ENST00000397354.3_Missense_Mutation_p.D718H|BCOR_ENST00000378455.4_Missense_Mutation_p.D718H|BCOR_ENST00000378444.4_Missense_Mutation_p.D718H	p.D718H	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	2514	-			718		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.2152G>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078170	0.55753	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.71	5.71	0.89125	5.71	5.71	0.89125	.	.	.	.	.	T	0.37945	0.1022	L	0.29908	0.895	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.997	T	0.19778	-1.0295	9	0.87932	D	0	-25.3251	18.8012	0.92018	0.0:1.0:0.0:0.0	.	718;718;718;718	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	H	718;718;718;718;718;125	ENSP00000367716:D718H;ENSP00000380512:D718H;ENSP00000367705:D718H;ENSP00000345923:D718H;ENSP00000384485:D718H	ENSP00000345923:D718H	D	-	1	0	0	BCOR	39817391	39817391	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	5.460000	0.66691	2.385000	0.81259	0.513000	0.50165	GAT		0.557	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2		93.570187	-29	-29	59	59	NM_017745		29	93.633969	93.633969	25	0.537037	0	0	0	1	0	29	25	0.537037	G	39932447	C	G	39932447	3	3	21	1	0	0	0	0	1	0	0	0	1386	913	32	5	3163	5	BCOR	23	39932447	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08	21326189	39932447	115338113	16	400											
NRK	203447	broad.mit.edu	37	X	105199570	105199570	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	g.chrX:105199570delT	ENST00000243300.9	+	29	5030	c.4727delT	c.(4726-4728)ctcfs	p.L1576fs	NRK_ENST00000428173.2_Frame_Shift_Del_p.L1577fs|NRK_ENST00000540278.1_Frame_Shift_Del_p.L157fs	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1576					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTTGAAGAGCTCCAAAGCAAT	0.373										HNSCC(51;0.14)																												ENST00000428173.2											0			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(4729-4731)ctcfs	Nik related kinase						79	64	69					X																	105199570		1822	4073	5895	SO:0001589	frameshift_variant	203447					ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105199570delT	BX538345	BX538345	CCDS65305.1	CCDS65305.1	Xq22.3	2008-02-05			2008-02-05			ENSG00000123572	ENSG00000123572	ENSG00000123572	ENSG00000123572				25391	25391	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300791	300791								Standard	Standard	NM_198465	NM_198465		Approved	DKFZp686A17109	uc004emd.3	uc004emd.3	Q7Z2Y5	Q7Z2Y5	OTTHUMG00000022143	OTTHUMG00000022143	ENST00000243300.9:c.4727delT	X.37:g.105199570delT	ENSP00000434830:p.Leu1576fs		NRK_ENST00000540278.1_Frame_Shift_Del_p.L157fs|NRK_ENST00000243300.9_Frame_Shift_Del_p.L1576fs	p.L1577fs			Q7Z2Y5	NRK_HUMAN			29	5033	+			1576		Q32ND6|Q5H9K2|Q6ZMP2	Frame_Shift_Del	DEL	ENST00000243300.9	37	c.4730delT																																																																																										0.373	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	.	.	3	3	12	12	NM_198465		2			4	0.33						2	4	0.33	-	105199570	T	-	105199570	7	5	21	1	0	1	0	1	0	0	0	0	10655	1551	54	0	4841	0	NRK	23	105199570	Frame_Shift_Del	DEL	T	TCGA-V4-A9ES-01A-11D-A39W-08	65267123	105199570	50070990	17	401											
RAB3GAP2	25782	broad.mit.edu	37	1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	rs151225064	byFrequency	TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.A469V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493																																						ENST00000358951.2											1	Substitution - Missense(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1405-1407)gCg>gTg	RAB3 GTPase activating protein subunit 2 (non-catalytic)	G	VAL/ALA	0,4406		0,0,2203	137	134	135		1406	5.7	0.9	1	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	RAB3GAP2	NM_012414.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	469/1394	220364491	2,13004	2203	4300	6503	SO:0001583	missense	25782			intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220364491G>A	AB020646	AB020646	CCDS31028.1	CCDS31028.1	1q41	2014-03-03			2014-03-03			ENSG00000118873	ENSG00000118873	ENSG00000118873	ENSG00000118873				17168	17168	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609275	609275						15696165, 16532399, 24482476	15696165, 16532399, 24482476	Standard	Standard	NM_012414	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	uc010puk.1	Q9H2M9	Q9H2M9	OTTHUMG00000037139	OTTHUMG00000037139	ENST00000358951.2:c.1406C>T	1.37:g.220364491G>A	ENSP00000351832:p.Ala469Val			p.A469V	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	14	1522	-			469		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1406C>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508939	0.96386	0.0	2.33E-4	ENSG00000118873	ENST00000358951	D	0.90444	-2.67	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94568	0.7768	10	0.56958	D	0.05	.	19.7176	0.96129	0.0:0.0:1.0:0.0	.	469	Q9H2M9	RBGPR_HUMAN	V	469	ENSP00000351832:A469V	ENSP00000351832:A469V	A	-	2	0	0	RAB3GAP2	218431114	218431114	1.000000	0.71417	0.907000	0.35723	0.936000	0.57629	9.090000	0.94144	2.670000	0.90874	0.563000	0.77884	GCG		0.493	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2		-21.343212	13	13	125	125	NM_012414		5	9.723141	9.723141	129	0.037313	0	0	0	1	0	5	129	0.037313	A	220364491	G	A	220364491	3	1	22	1	0	0	0	0	1	0	0	0	12936	1087	38	1	2863	1	RAB3GAP2	1	220364491	Missense_Mutation	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		220364491	28886130	1	402											
SLC23A3	151295	broad.mit.edu	37	2	220033409	220033409	+	Silent	SNP	G	G	C			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr2:220033409G>C	ENST00000409878.3	-	5	671	c.639C>G	c.(637-639)gcC>gcG	p.A213A	SLC23A3_ENST00000455516.2_Silent_p.A221A|SLC23A3_ENST00000295738.7_Silent_p.A213A|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	213					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGAACTGGGCTACCTCCC	0.672																																						ENST00000455516.2											0			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11						c.(661-663)gcC>gcG	solute carrier family 23, member 3						29	34	32					2																	220033409		1993	4161	6154	SO:0001819	synonymous_variant	151295			transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220033409G>C	BC030243	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901	ENSG00000213901	ENSG00000213901		"Solute carriers"	"Solute carriers"	20601	20601	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_144712	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	uc010zkr.2	Q6PIS1	Q6PIS1	OTTHUMG00000154616	OTTHUMG00000154616	ENST00000409878.3:c.639C>G	2.37:g.220033409G>C			SLC23A3_ENST00000396775.3_Intron|SLC23A3_ENST00000295738.7_Silent_p.A213A|SLC23A3_ENST00000409878.3_Silent_p.A213A	p.A221A	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	710	-		Renal(207;0.0474)	213		B7Z512|Q2PYN6|Q96NA6	Silent	SNP	ENST00000409878.3	37	c.663C>G	CCDS46518.1																																																																																									0.672	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2		22.392425	5	5	30	30	NM_144712		8	22.862795	22.862795	15	0.347826	0	0	0	1	0	8	15	0.347826	C	220033409	G	C	220033409	2	2	22	1	0	0	0	0	0	0	0	1	14464	1219	43	5		5	SLC23A3	2	220033409	Silent	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		220033409	23165964	2	403											
APEH	327	broad.mit.edu	37	3	49716365	49716365	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr3:49716365G>A	ENST00000296456.5	+	12	1541	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T	APEH_ENST00000438011.1_Missense_Mutation_p.A381T	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	381					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTTGACTCGGCTCAGCGCAG	0.607																																						ENST00000296456.5											0			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(1141-1143)Gct>Act	acylaminoacyl-peptide hydrolase						77	72	74					3																	49716365		2203	4300	6503	SO:0001583	missense	327			proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49716365G>A	D38441	D38441	CCDS2801.1	CCDS2801.1	3p21	2013-05-29	2013-05-29		2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	ENSG00000164062	ENSG00000164062	3.4.19.1			586	586	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	"acylaminoacyl-peptidase"	102645	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	2392324	Standard	Standard	NM_001640	NM_001640		Approved		uc003cxf.3	uc003cxf.3	P13798	P13798	OTTHUMG00000156882	OTTHUMG00000156882	ENST00000296456.5:c.1141G>A	3.37:g.49716365G>A	ENSP00000296456:p.Ala381Thr		APEH_ENST00000438011.1_Missense_Mutation_p.A381T	p.A381T	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	12	1541	+			381		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1141G>A	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871281	0.51695	.	.	ENSG00000164062	ENST00000296456;ENST00000442186;ENST00000438011	T;T	0.43294	0.95;0.95	5.62	4.72	0.59763	5.62	4.72	0.59763	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.405904	0.28322	N	0.015780	T	0.38427	0.1040	L	0.56280	1.765	0.31060	N	0.714217	B;B	0.18968	0.032;0.014	B;B	0.19946	0.027;0.017	T	0.38650	-0.9651	10	0.12766	T	0.61	-24.1998	15.3547	0.74418	0.0:0.2638:0.7362:0.0	.	381;381	C9JIF9;P13798	.;ACPH_HUMAN	T	381;306;381	ENSP00000296456:A381T;ENSP00000415862:A381T	ENSP00000296456:A381T	A	+	1	0	0	APEH	49691369	49691369	0.220000	0.23631	0.766000	0.31476	0.910000	0.53928	1.111000	0.31159	1.306000	0.44926	0.561000	0.74099	GCT		0.607	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		-6.438822	0	0	124	124			4	7.957368	7.957368	66	0.057143	0	0	0	1	0	4	66	0.057143	A	49716365	G	A	49716365	3	1	22	1	0	0	0	0	1	0	0	0	768	1203	42	2	1187	2	APEH	3	49716365	Missense_Mutation	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		49716365	148306065	3	404											
ALG1L	200810	broad.mit.edu	37	3	125651539	125651539	+	Silent	SNP	A	A	C			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr3:125651539A>C	ENST00000340333.3	-	3	277	c.114T>G	c.(112-114)ctT>ctG	p.L38L	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	38							transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423																																						ENST00000340333.3											0			large_intestine(2)|lung(2)	4						c.(112-114)ctT>ctG	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like						89	82	85					3																	125651539		2203	4300	6503	SO:0001819	synonymous_variant	200810					transferase activity, transferring glycosyl groups	g.chr3:125651539A>C	BC073816	BC073816	CCDS33840.1, CCDS74998.1	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366	ENSG00000189366	ENSG00000189366		"Glycosyltransferase group 1 domain containing"	"Glycosyltransferase group 1 domain containing"	33721	33721	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"asparagine-linked glycosylation 1-like 1"	"asparagine-linked glycosylation 1-like 1"			"asparagine-linked glycosylation 1-like"		"asparagine-linked glycosylation 1-like"					Standard	Standard	NM_001015050	NM_001015050		Approved	ALG1L1	uc003eig.2	uc003eig.2	Q6GMV1	Q6GMV1	OTTHUMG00000159588	OTTHUMG00000159588	ENST00000340333.3:c.114T>G	3.37:g.125651539A>C				p.L38L	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN			3	277	-			38		D3DNA5	Silent	SNP	ENST00000340333.3	37	c.114T>G	CCDS33840.1																																																																																									0.423	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1		-7.463182	5	5	99	99	NM_001015050		4	9.159825	9.159825	74	0.051282	0	0	0	1	0	4	74	0.051282	C	125651539	A	C	125651539	2	2	22	1	0	0	0	0	0	0	0	1	517	349	13	5		5	ALG1L	3	125651539	Silent	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08	75935174	125651539	72370891	4	405											
USP13	8975	broad.mit.edu	37	3	179448030	179448030	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr3:179448030A>T	ENST00000263966.3	+	9	1613	c.1142A>T	c.(1141-1143)cAa>cTa	p.Q381L	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.Q316L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	381	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GATCCAACACAAGATTTCAAC	0.343																																						ENST00000263966.3											0			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(1141-1143)cAa>cTa	ubiquitin specific peptidase 13 (isopeptidase T-3)						124	122	122					3																	179448030		2203	4300	6503	SO:0001583	missense	8975			ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179448030A>T	U75362	U75362	CCDS3235.1	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056	ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	"Ubiquitin-specific peptidases"	12611	12611	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603591	603591	"ubiquitin specific protease 13 (isopeptidase T-3)"		"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	12838346	Standard	Standard	NM_003940	NM_003940		Approved	IsoT-3	uc003fkh.3	uc003fkh.3	Q92995	Q92995	OTTHUMG00000157783	OTTHUMG00000157783	ENST00000263966.3:c.1142A>T	3.37:g.179448030A>T	ENSP00000263966:p.Gln381Leu		USP13_ENST00000496897.1_Missense_Mutation_p.Q316L|USP13_ENST00000482333.1_3'UTR	p.Q381L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		9	1613	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		381		A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1142A>T	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763128	0.49574	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.33438	1.41;1.41;1.41	5.69	5.69	0.88448	5.69	5.69	0.88448	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	L	0.61036	1.89	0.80722	D	1	D;B	0.56035	0.974;0.03	P;B	0.57960	0.83;0.036	T	0.36138	-0.9760	10	0.33940	T	0.23	-16.1905	15.9458	0.79792	1.0:0.0:0.0:0.0	.	381;381	Q92995;A8K2S3	UBP13_HUMAN;.	L	381;316;27	ENSP00000263966:Q381L;ENSP00000417146:Q316L;ENSP00000420057:Q27L	ENSP00000263966:Q381L	Q	+	2	0	0	USP13	180930724	180930724	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.339000	0.96797	2.162000	0.67917	0.459000	0.35465	CAA		0.343	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		86.258571	31	31	126	126			29	86.642034	86.642034	40	0.42029	0	0	0	1	0	29	40	0.42029	T	179448030	A	T	179448030	3	4	22	1	0	0	0	0	1	0	0	0	17041	130	5	5	1176	5	USP13	3	179448030	Missense_Mutation	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08	53796491	179448030	18574400	5	406											
PCDHB7	56129	broad.mit.edu	37	5	140554267	140554267	+	Silent	SNP	G	G	A			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr5:140554267G>A	ENST00000231137.3	+	1	2025	c.1851G>A	c.(1849-1851)gtG>gtA	p.V617V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	617	Cadherin 6. {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(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATTCGGCGTGTGGGCGCACA	0.677																																						ENST00000231137.3											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1849-1851)gtG>gtA							33	50	44					5																	140554267		2163	4261	6424	SO:0001819	synonymous_variant	0			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554267G>A	AF152500	AF152500	CCDS4249.1	CCDS4249.1	5q31	2010-01-26			2010-01-26			ENSG00000113212	ENSG00000113212	ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8692	8692	other	protocadherin	other	protocadherin			606333	606333						10380929	10380929	Standard	Standard	NM_018940	NM_018940		Approved	PCDH-BETA7	uc003lit.3	uc003lit.3	Q9Y5E2	Q9Y5E2	OTTHUMG00000129608	OTTHUMG00000129608	ENST00000231137.3:c.1851G>A	5.37:g.140554267G>A				p.V617V	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2025	+			617	Cadherin 6.	A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1851G>A	CCDS4249.1																																																																																									0.677	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		43.051129	-23	-23	137	137	NM_018940		23	55.405236	55.405236	105	0.179687	0	0	0	1	0	23	105	0.179687	A	140554267	G	A	140554267	2	1	22	1	0	0	0	0	0	0	0	1	11547	1364	48	3		3	PCDHB7	5	140554267	Silent	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		140554267	40360993	6	407											
NDUFA5	4698	broad.mit.edu	37	7	123190629	123190629	+	Silent	SNP	T	T	A	rs371230838		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr7:123190629T>A	ENST00000355749.2	-	3	537	c.78A>T	c.(76-78)atA>atT	p.I26I	NDUFA5_ENST00000467117.1_5'UTR|NDUFA5_ENST00000471770.1_Silent_p.I26I	NM_001282419.1|NM_005000.2	NP_001269348.1|NP_004991.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	26					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|urinary_tract(1)	2						TTGTGTACAATATTCTTAGCC	0.318																																						ENST00000471770.1											0			large_intestine(1)|urinary_tract(1)	2						c.(76-78)atA>atT	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5						76	83	81					7																	123190629		2202	4299	6501	SO:0001819	synonymous_variant	4698			mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:123190629T>A			CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	7q31.33	2013-06-19	2013-06-19		2013-06-19	2013-06-19		ENSG00000128609	ENSG00000128609	ENSG00000128609	ENSG00000128609		"Mitochondrial respiratory chain complex / Complex I"	"Mitochondrial respiratory chain complex / Complex I"	7688	7688	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"complex I 13kDa subunit B", "ubiquinone reductase", "type I dehydrogenase", "NADH-ubiquinone oxidoreductase 13 kDa-B subunit"	"complex I 13kDa subunit B", "ubiquinone reductase", "type I dehydrogenase", "NADH-ubiquinone oxidoreductase 13 kDa-B subunit"	601677	601677	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"		"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"			9763677, 9021153	9763677, 9021153	Standard	Standard	XM_005250371	XM_005250371		Approved	B13, NUFM, CI-13KD-B, UQOR13, CI-13kB	uc003vks.3	uc003vks.3	Q16718	Q16718	OTTHUMG00000157348	OTTHUMG00000157348	ENST00000355749.2:c.78A>T	7.37:g.123190629T>A			NDUFA5_ENST00000355749.2_Silent_p.I26I|NDUFA5_ENST00000467117.1_5'UTR	p.I26I	NM_001282419.1|NM_001282420.1|NM_001282421.1	NP_001269348.1|NP_001269349.1|NP_001269350.1	Q16718	NDUA5_HUMAN			3	212	-			26		B2RD98|Q5H9R2|Q6IRX7	Silent	SNP	ENST00000355749.2	37	c.78A>T	CCDS5788.1	.	.	.	.	.	.	.	.	.	.	T	7.828	0.719297	0.15372	.	.	ENSG00000128609	ENST00000378795	.	.	.	5.54	4.35	0.52113	5.54	4.35	0.52113	.	.	.	.	.	T	0.64724	0.2624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63812	-0.6552	5	0.46703	T	0.11	.	11.0704	0.47999	0.1393:0.0:0.0:0.8607	.	.	.	.	F	22	.	ENSP00000368072:I22F	I	-	1	0	0	NDUFA5	122977865	122977865	1.000000	0.71417	0.262000	0.24481	0.710000	0.40934	1.396000	0.34531	0.972000	0.38314	0.533000	0.62120	ATT		0.318	NDUFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348533.1		5.005542	13	13	101	101	NM_005000		6	14.84921	14.84921	55	0.098361	0	0	0	1	0	6	55	0.098361	A	123190629	T	A	123190629	2	1	22	1	0	0	0	0	0	0	0	1	10268	1396	49	5		5	NDUFA5	7	123190629	Silent	SNP	T	TCGA-V4-A9ET-01A-11D-A39W-08		123190629	35948034	7	408											
CSMD3	114788	broad.mit.edu	37	8	113694820	113694820	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr8:113694820G>A	ENST00000297405.5	-	16	2772	c.2528C>T	c.(2527-2529)gCa>gTa	p.A843V	CSMD3_ENST00000455883.2_Missense_Mutation_p.A739V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A843V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A803V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	843	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACCGCCGTGCATTGATTGG	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5											0			breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2527-2529)gCa>gTa	CUB and Sushi multiple domains 3						99	99	99					8																	113694820		2203	4300	6503	SO:0001583	missense	114788				integral to membrane|plasma membrane		g.chr8:113694820G>A	AY210419	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			2007-01-06			ENSG00000164796	ENSG00000164796	ENSG00000164796	ENSG00000164796				19291	19291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608399	608399								Standard	Standard	NM_052900	NM_052900		Approved		uc003ynu.3	uc003ynu.3	Q7Z407	Q7Z407	OTTHUMG00000157027	OTTHUMG00000157027	ENST00000297405.5:c.2528C>T	8.37:g.113694820G>A	ENSP00000297405:p.Ala843Val		CSMD3_ENST00000455883.2_Missense_Mutation_p.A739V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A803V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A843V	p.A843V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			16	2772	-			843	Sushi 4.	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2528C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769141	0.90020	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.58	5.58	0.84498	5.58	5.58	0.84498	Complement control module (2);Sushi/SCR/CCP (3);	0.075478	0.52532	D	0.000071	T	0.50446	0.1616	L	0.60904	1.88	0.40393	D	0.979562	D;D;D	0.76494	0.999;0.999;0.989	D;D;D	0.91635	0.998;0.999;0.921	T	0.48387	-0.9040	10	0.59425	D	0.04	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	739;843;803	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	803;843;183;739;843	ENSP00000345799:A803V;ENSP00000297405:A843V;ENSP00000341558:A183V;ENSP00000412263:A739V;ENSP00000343124:A843V	ENSP00000297405:A843V	A	-	2	0	0	CSMD3	113763996	113763996	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.687000	0.61708	2.623000	0.88846	0.650000	0.86243	GCA		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		59.911682	27	27	130	130	NM_052900		28	72.871382	72.871382	118	0.191781	0	0	0	1	0	28	118	0.191781	A	113694820	G	A	113694820	3	1	22	1	0	0	0	0	1	0	0	0	3946	1319	46	2	8819	2	CSMD3	8	113694820	Missense_Mutation	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		113694820	32669202	8	409											
C9orf86	55684	broad.mit.edu	37	9	139734309	139734309	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr9:139734309G>C	ENST00000311502.7	+	13	2158	c.1922G>C	c.(1921-1923)aGt>aCt	p.S641T	RABL6_ENST00000371675.3_Missense_Mutation_p.S526T|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Missense_Mutation_p.S642T			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	641					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AAGGAGAGCAGTGAGGAAGGT	0.682																																						ENST00000371675.3											0										c.(1576-1578)aGt>aCt	RAB, member RAS oncogene family-like 6						18	23	22					9																	139734309		1961	4127	6088	SO:0001583	missense	55684						g.chr9:139734309G>C	AK094382	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642	ENSG00000196642	ENSG00000196642				24703	24703	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	"Rab-like protein 1", "partner of ARF"	610615	610615	"chromosome 9 open reading frame 86"	C9orf86	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	14702039, 16582619, 17962191, 19433581	Standard	Standard	NM_024718	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	uc004cjj.1	Q3YEC7	Q3YEC7	OTTHUMG00000020947	OTTHUMG00000020947	ENST00000311502.7:c.1922G>C	9.37:g.139734309G>C	ENSP00000311134:p.Ser641Thr		RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371663.4_Missense_Mutation_p.S642T|RABL6_ENST00000311502.7_Missense_Mutation_p.S641T|RABL6_ENST00000432842.2_3'UTR	p.S526T							13	2462	+					A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.1577G>C	CCDS48058.1	.	.	.	.	.	.	.	.	.	.	.	11.74	1.728562	0.30593	.	.	ENSG00000196642	ENST00000371663;ENST00000311502;ENST00000371675;ENST00000435930	T;T;T;T	0.73152	-0.61;-0.63;-0.62;-0.72	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.338891	0.33127	N	0.005251	T	0.78635	0.4314	M	0.71581	2.175	0.46298	D	0.998971	D;D;P	0.71674	0.998;0.965;0.941	D;P;P	0.63703	0.917;0.655;0.453	T	0.77135	-0.2699	10	0.33940	T	0.23	-14.0842	8.9208	0.35610	0.1028:0.0:0.8972:0.0	.	435;642;641	B1AMX5;Q3YEC7-2;Q3YEC7	.;.;PARF_HUMAN	T	642;641;526;435	ENSP00000360727:S642T;ENSP00000311134:S641T;ENSP00000360740:S526T;ENSP00000408442:S435T	ENSP00000311134:S641T	S	+	2	0	0	C9orf86	138854130	138854130	1.000000	0.71417	0.169000	0.22859	0.034000	0.12701	6.146000	0.71777	2.162000	0.67917	0.561000	0.74099	AGT		0.682	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4		33.755183	0	0	17	17	NM_024718		10	34.331778	34.331778	4	0.714286	0	0	0	1	0	10	4	0.714286	C	139734309	G	C	139734309	3	2	22	1	0	0	0	0	1	0	0	0	2502	1029	36	5	2219	5	C9orf86	9	139734309	Missense_Mutation	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		139734309	1479122	9	410											
LRRTM3	347731	broad.mit.edu	37	10	68687631	68687631	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr10:68687631T>A	ENST00000361320.4	+	2	1535	c.957T>A	c.(955-957)aaT>aaA	p.N319K	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	319	LRRCT.				positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCAGCAGAAATATTTGCTCCC	0.398																																						ENST00000361320.4											0			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(955-957)aaT>aaA	leucine rich repeat transmembrane neuronal 3						77	84	82					10																	68687631		2203	4300	6503	SO:0001583	missense	347731				integral to membrane		g.chr10:68687631T>A	BX640611	BX640611	CCDS7270.1	CCDS7270.1	10q22.1	2007-01-22			2007-01-22				ENSG00000198739		ENSG00000198739				19410	19410	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610869	610869						12676565	12676565	Standard	Standard	XR_247527	XR_247527		Approved		uc001jmz.1	uc001jmz.1	Q86VH5	Q86VH5			ENST00000361320.4:c.957T>A	10.37:g.68687631T>A	ENSP00000355187:p.Asn319Lys		CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	p.N319K	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1535	+			319	LRRCT.	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.957T>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	T	2.049	-0.418154	0.04766	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.04317	3.65	5.8	0.496	0.16896	5.8	0.496	0.16896	.	0.000000	0.85682	D	0.000000	T	0.02610	0.0079	N	0.13043	0.29	0.42989	D	0.994482	B;B	0.20459	0.007;0.045	B;B	0.21360	0.009;0.034	T	0.50048	-0.8873	10	0.10636	T	0.68	.	9.5846	0.39508	0.0:0.3875:0.0:0.6125	.	319;319	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	319	ENSP00000355187:N319K	ENSP00000355187:N319K	N	+	3	2	2	LRRTM3	68357637	68357637	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.623000	0.37008	0.058000	0.16222	-0.280000	0.10049	AAT		0.398	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2		32.011942	16	16	89	89	NM_178011		14	38.279393	38.279393	58	0.194444	0	0	0	1	0	14	58	0.194444	A	68687631	T	A	68687631	3	1	22	1	0	0	0	0	1	0	0	0	9041	1403	49	5	963	5	LRRTM3	10	68687631	Missense_Mutation	SNP	T	TCGA-V4-A9ET-01A-11D-A39W-08		68687631	66847116	10	411											
PYROXD2	84795	broad.mit.edu	37	10	100147057	100147057	+	Silent	SNP	A	A	G			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr10:100147057A>G	ENST00000370575.4	-	14	1503	c.1455T>C	c.(1453-1455)gaT>gaC	p.D485D	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	485							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCGATGCAATCAAACACTG	0.483																																						ENST00000370575.4											0			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1453-1455)gaT>gaC	pyridine nucleotide-disulphide oxidoreductase domain 2						91	86	88					10																	100147057		2203	4300	6503	SO:0001819	synonymous_variant	84795					oxidoreductase activity	g.chr10:100147057A>G	AK074429	AK074429	CCDS7474.1	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943	ENSG00000119943	ENSG00000119943				23517	23517	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 10 open reading frame 33"	C10orf33	"chromosome 10 open reading frame 33"	C10orf33				Standard	Standard	NM_032709	NM_032709		Approved	FLJ23849	uc001kpc.3	uc001kpc.3	Q8N2H3	Q8N2H3	OTTHUMG00000018877	OTTHUMG00000018877	ENST00000370575.4:c.1455T>C	10.37:g.100147057A>G			PYROXD2_ENST00000483923.1_5'UTR	p.D485D	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			14	1503	-			485		D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.1455T>C	CCDS7474.1																																																																																									0.483	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2		50.793909	-19	-19	65	65	NM_032709		16	51.000537	51.000537	22	0.421053	0	0	0	1	0	16	22	0.421053	G	100147057	A	G	100147057	2	3	22	1	0	0	0	0	0	0	0	1	12867	98	4	4		4	PYROXD2	10	100147057	Silent	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08	31459426	100147057	35387690	11	412											
OR52M1	119772	broad.mit.edu	37	11	4567078	4567078	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr11:4567078T>C	ENST00000360213.1	+	1	658	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTGCTGCATCCTATGTGAT	0.522																																						ENST00000360213.1											0			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(658-660)Tcc>Ccc	olfactory receptor, family 52, subfamily M, member 1						263	247	252					11																	4567078		2201	4298	6499	SO:0001583	missense	119772			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4567078T>C	AB065789	AB065789	CCDS31353.1	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790	ENSG00000197790	ENSG00000197790		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	15225	15225	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P	"olfactory receptor, family 52, subfamily M, member 1 pseudogene"	OR52M1P				Standard	Standard	NM_001004137	NM_001004137		Approved		uc010qyf.2	uc010qyf.2	Q8NGK5	Q8NGK5	OTTHUMG00000165706	OTTHUMG00000165706	ENST00000360213.1:c.658T>C	11.37:g.4567078T>C	ENSP00000353343:p.Ser220Pro			p.S220P	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	658	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	220			Missense_Mutation	SNP	ENST00000360213.1	37	c.658T>C	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922553	0.52653	.	.	ENSG00000197790	ENST00000360213	T	0.46819	0.86	5.01	5.01	0.66863	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000258	T	0.78130	0.4235	H	0.97516	4.02	0.25075	N	0.990962	D	0.69078	0.997	D	0.67231	0.95	T	0.76713	-0.2858	10	0.87932	D	0	.	13.9773	0.64282	0.0:0.0:0.0:1.0	.	220	Q8NGK5	O52M1_HUMAN	P	220	ENSP00000353343:S220P	ENSP00000353343:S220P	S	+	1	0	0	OR52M1	4523654	4523654	0.957000	0.32711	0.969000	0.41365	0.789000	0.44602	3.065000	0.49994	2.233000	0.73108	0.528000	0.53228	TCC		0.522	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1		-27.830942	19	19	230	230	NM_001004137		4	7.864828	7.864828	141	0.027586	0	0	0	1	0	4	141	0.027586	C	4567078	T	C	4567078	3	2	22	1	0	0	0	0	1	0	0	0	11126	1435	50	4	660	4	OR52M1	11	4567078	Missense_Mutation	SNP	T	TCGA-V4-A9ET-01A-11D-A39W-08		4567078	130439438	12	413											
PLDN	26258	broad.mit.edu	37	15	45884472	45884472	+	Silent	SNP	C	C	T			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr15:45884472C>T	ENST00000220531.3	+	2	543	c.222C>T	c.(220-222)ctC>ctT	p.L74L	BLOC1S6_ENST00000562384.1_Intron|BLOC1S6_ENST00000567740.1_Intron|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000564765.1_5'UTR|BLOC1S6_ENST00000568816.1_5'UTR|BLOC1S6_ENST00000565323.1_Silent_p.L79L|BLOC1S6_ENST00000565409.1_5'UTR|Y_RNA_ENST00000363549.1_RNA|BLOC1S6_ENST00000565216.1_Intron|BLOC1S6_ENST00000566753.1_Silent_p.L74L|BLOC1S6_ENST00000567461.1_Intron	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	74					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										TCCAGGAACTCACGTAAGCTA	0.363																																						ENST00000220531.3											0										c.(220-222)ctC>ctT	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin						80	81	80					15																	45884472		2198	4298	6496	SO:0001819	synonymous_variant	26258						g.chr15:45884472C>T	AF080470	AF080470	CCDS10126.1	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164	ENSG00000104164	ENSG00000104164		"Biogenesis of lysosomal organelles complex-1 subunits"	"Biogenesis of lysosomal organelles complex-1 subunits"	8549	8549	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604310	604310	"pallid (mouse) homolog, pallidin", "pallidin homolog (mouse)"	PA, PLDN	"pallid (mouse) homolog, pallidin", "pallidin homolog (mouse)"	PA, PLDN		10610180	10610180	Standard	Standard	NM_012388	NM_012388		Approved	HPS9	uc001zvq.3	uc001zvq.3	Q9UL45	Q9UL45	OTTHUMG00000131477	OTTHUMG00000131477	ENST00000220531.3:c.222C>T	15.37:g.45884472C>T			BLOC1S6_ENST00000568816.1_5'UTR|BLOC1S6_ENST00000565323.1_Silent_p.L79L|BLOC1S6_ENST00000562384.1_Intron|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000566753.1_Silent_p.L74L|BLOC1S6_ENST00000567461.1_Intron|BLOC1S6_ENST00000565216.1_Intron|BLOC1S6_ENST00000567740.1_Intron|BLOC1S6_ENST00000565409.1_5'UTR|BLOC1S6_ENST00000564765.1_5'UTR	p.L74L	NM_012388.2	NP_036520.1					2	543	+						Silent	SNP	ENST00000220531.3	37	c.222C>T	CCDS10126.1																																																																																									0.363	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254320.2		64.470688	-2	-2	60	60	NM_012388		21	64.546318	64.546318	25	0.456522	0	0	0	1	0	21	25	0.456522	T	45884472	C	T	45884472	2	4	22	1	0	0	0	0	0	0	0	1	12051	813	29	3		3	PLDN	15	45884472	Silent	SNP	C	TCGA-V4-A9ET-01A-11D-A39W-08		45884472	56646920	13	414											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		76.588246	-11	-11	70	70	NM_002067		25	76.823517	76.823517	33	0.431034	0	0	0	1	0	25	33	0.431034	T	3118942	A	T	3118942	3	4	22	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08		3118942	56010041	14	415											
C20orf72	92667	broad.mit.edu	37	20	17968940	17968940	+	Splice_Site	SNP	A	A	T			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	g.chr20:17968940A>T	ENST00000377710.5	+	4	1151	c.863A>T	c.(862-864)cAg>cTg	p.Q288L	MGME1_ENST00000377704.4_Intron|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_Splice_Site_p.Q208L	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		TACAGCTTTCAGGTCAGGACA	0.453																																						ENST00000377710.5											0										c.(862-864)cAg>cTg	mitochondrial genome maintenance exonuclease 1						96	87	90					20																	17968940		2203	4300	6503	SO:0001630	splice_region_variant	92667						g.chr20:17968940A>T			CCDS13131.1	CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871	ENSG00000125871	ENSG00000125871				16205	16205	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615076	615076	"chromosome 20 open reading frame 72"	C20orf72	"chromosome 20 open reading frame 72"	C20orf72		23313956, 23358826, 23434322	23313956, 23358826, 23434322	Standard	Standard	NM_052865	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	uc002wqh.3	Q9BQP7	Q9BQP7	OTTHUMG00000031955	OTTHUMG00000031955	ENST00000377710.5:c.864+1A>T	20.37:g.17968940A>T			MGME1_ENST00000377709.1_Splice_Site_p.Q208L|MGME1_ENST00000377704.4_Intron|MGME1_ENST00000467391.1_3'UTR	p.Q288L	NM_052865.2	NP_443097.1					4	1151	+						Splice_Site	SNP	ENST00000377710.5	37	c.863A>T	CCDS13131.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413106	0.83449	.	.	ENSG00000125871	ENST00000377710;ENST00000377709	T;T	0.49720	0.77;0.83	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.102324	0.64402	D	0.000001	T	0.66197	0.2765	M	0.70903	2.155	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.67205	-0.5729	10	0.45353	T	0.12	-12.6793	15.4826	0.75539	1.0:0.0:0.0:0.0	.	288	Q9BQP7	CT072_HUMAN	L	288;208	ENSP00000366939:Q288L;ENSP00000366938:Q208L	ENSP00000366938:Q208L	Q	+	2	0	0	C20orf72	17916940	17916940	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	8.721000	0.91446	2.137000	0.66172	0.379000	0.24179	CAG		0.453	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078139.1		-9.538392	9	9	105	105	NM_052865	Missense_Mutation	3	6.717945	6.717945	69	0.041667	0	0	0	1	0	3	69	0.041667	T	17968940	A	T	17968940	5	4	22	1	0	0	0	0	0	0	1	0	2118	202	7	5	873	5	C20orf72	20	17968940	Splice_Site	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08		17968940	45056580	15	416											
MACF1	23499	broad.mit.edu	37	1	39798840	39798840	+	Missense_Mutation	SNP	C	C	G	rs551439838		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr1:39798840C>G	ENST00000372915.3	+	36	6682	c.6595C>G	c.(6595-6597)Ccc>Gcc	p.P2199A	MACF1_ENST00000567887.1_Missense_Mutation_p.P2231A|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.P2194A|MACF1_ENST00000289893.4_Missense_Mutation_p.P634A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2199					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCACATAAAACCCCAAAGCAA	0.358																																						ENST00000564288.1											0			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6580-6582)Ccc>Gcc	microtubule-actin crosslinking factor 1						42	46	45					1																	39798840		2203	4300	6503	SO:0001583	missense	23499			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798840C>G	AB007934	AB007934	CCDS435.1	CCDS435.1	1p32-p31	2013-01-10			2013-01-10			ENSG00000127603	ENSG00000127603	ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	"EF-hand domain containing"	13664	13664	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271	608271						7635207, 10529403	7635207, 10529403	Standard	Standard	NM_012090	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	uc031pmc.1	Q9UPN3	Q9UPN3	OTTHUMG00000007754	OTTHUMG00000007754	ENST00000372915.3:c.6595C>G	1.37:g.39798840C>G	ENSP00000362006:p.Pro2199Ala		MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P634A|MACF1_ENST00000372915.3_Missense_Mutation_p.P2199A|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2231A|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron	p.P2194A			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7357	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2199		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6580C>G		.	.	.	.	.	.	.	.	.	.	C	0.009	-1.808856	0.00606	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60040	0.22;1.29	5.92	-0.709	0.11237	5.92	-0.709	0.11237	.	1.839560	0.02323	N	0.073199	T	0.34221	0.0890	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17379	-1.0371	10	0.02654	T	1	.	2.122	0.03728	0.1958:0.1887:0.1148:0.5008	.	2199	Q9UPN3	MACF1_HUMAN	A	2199;634	ENSP00000362006:P2199A;ENSP00000289893:P634A	ENSP00000289893:P634A	P	+	1	0	0	MACF1	39571427	39571427	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.794000	0.04584	-0.151000	0.11176	0.467000	0.42956	CCC		0.358	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		59.546777	-5	-5	47	47	NM_033044		18	59.596975	59.596975	21	0.461538	0	0	0	1	0	18	21	0.461538	G	39798840	C	G	39798840	3	3	23	1	0	0	0	0	1	0	0	0	9144	507	18	5	6671	5	MACF1	1	39798840	Missense_Mutation	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08		39798840	209451781	1	417											
NME7	29922	broad.mit.edu	37	1	169256568	169256568	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr1:169256568T>C	ENST00000367811.3	-	7	983	c.727A>G	c.(727-729)Att>Gtt	p.I243V	NME7_ENST00000472647.1_Missense_Mutation_p.I207V|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	243					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GGTTTAACAATGCAACAGGTA	0.353																																						ENST00000367811.3											0			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(727-729)Att>Gtt	NME/NM23 family member 7						245	244	244					1																	169256568		2203	4300	6503	SO:0001583	missense	29922			CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169256568T>C	AF153191	AF153191	CCDS1277.1, CCDS44274.1	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156	ENSG00000143156	ENSG00000143156				20461	20461	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	"cilia and flagella associated protein 67"	613465	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"		"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	19852809	Standard	Standard	NM_197972	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	uc001gfu.3	Q9Y5B8	Q9Y5B8	OTTHUMG00000034586	OTTHUMG00000034586	ENST00000367811.3:c.727A>G	1.37:g.169256568T>C	ENSP00000356785:p.Ile243Val		NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.I207V	p.I243V	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			7	983	-	all_hematologic(923;0.208)		243		A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.727A>G	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	T	6.385	0.439161	0.12104	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.58210	0.35;0.35	4.57	2.28	0.28536	4.57	2.28	0.28536	.	0.104565	0.64402	D	0.000005	T	0.13415	0.0325	L	0.28054	0.825	0.45205	D	0.998214	B;B	0.11235	0.004;0.002	B;B	0.17722	0.009;0.019	T	0.13683	-1.0500	9	0.02654	T	1	-19.4945	8.0999	0.30850	0.0:0.1608:0.0:0.8392	.	247;243	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	V	207;243	ENSP00000433341:I207V;ENSP00000356785:I243V	ENSP00000356785:I243V	I	-	1	0	0	NME7	167523192	167523192	1.000000	0.71417	0.924000	0.36721	0.535000	0.34838	2.845000	0.48254	1.697000	0.51169	0.519000	0.50382	ATT		0.353	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1		235.532098	-46	-46	209	209	NM_013330		74	235.956778	235.956778	92	0.445783	0	0	0	1	0	74	92	0.445783	C	169256568	T	C	169256568	3	2	23	1	0	0	0	0	1	0	0	0	10496	1464	51	4	427	4	NME7	1	169256568	Missense_Mutation	SNP	T	TCGA-V4-A9EU-01A-11D-A39W-08	129457728	169256568	79994053	2	418											
TTLL4	9654	broad.mit.edu	37	2	219603802	219603802	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr2:219603802G>A	ENST00000392102.1	+	3	1743	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	TTLL4_ENST00000442769.1_Missense_Mutation_p.R468H|TTLL4_ENST00000457313.1_Missense_Mutation_p.R303H|TTLL4_ENST00000258398.4_Missense_Mutation_p.R468H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	468					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.R468H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTGGCCACCCGCCTCTCTTCC	0.532																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1											1	Substitution - Missense(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1402-1404)cGc>cAc	tubulin tyrosine ligase-like family, member 4						47	49	48					2																	219603802		2203	4299	6502	SO:0001583	missense	9654			protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219603802G>A			CCDS2422.1	CCDS2422.1	2p24.3-p24.1	2013-02-14			2013-02-14			ENSG00000135912	ENSG00000135912	ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	"Tubulin tyrosine ligase-like family"	28976	28976	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11054573	11054573	Standard	Standard	NM_014640	NM_014640		Approved	KIAA0173	uc002viy.3	uc002viy.3	Q14679	Q14679	OTTHUMG00000133081	OTTHUMG00000133081	ENST00000392102.1:c.1403G>A	2.37:g.219603802G>A	ENSP00000375951:p.Arg468His		TTLL4_ENST00000457313.1_Missense_Mutation_p.R303H|TTLL4_ENST00000258398.4_Missense_Mutation_p.R468H|TTLL4_ENST00000442769.1_Missense_Mutation_p.R468H	p.R468H	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	1743	+		Renal(207;0.0915)	468		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1403G>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	8.351	0.830869	0.16820	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05382	3.68;3.89;3.45;3.89	4.67	-0.845	0.10737	4.67	-0.845	0.10737	.	2.277970	0.01694	N	0.026803	T	0.07143	0.0181	L	0.34521	1.04	0.09310	N	1	B;B;B	0.16166	0.016;0.004;0.009	B;B;B	0.06405	0.002;0.002;0.002	T	0.42050	-0.9474	10	0.48119	T	0.1	.	9.5462	0.39282	0.6821:0.0:0.3179:0.0	.	303;468;468	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	H	303;468;468;468	ENSP00000393332:R303H;ENSP00000375951:R468H;ENSP00000396555:R468H;ENSP00000258398:R468H	ENSP00000258398:R468H	R	+	2	0	0	TTLL4	219312046	219312046	0.000000	0.05858	0.187000	0.23214	0.642000	0.38348	0.045000	0.14013	-0.390000	0.07774	-0.367000	0.07326	CGC		0.532	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1		74.704393	-25	-25	34	34	NM_014640		24	75.053987	75.053987	16	0.6	0	0	0	1	0	24	16	0.6	A	219603802	G	A	219603802	3	1	23	1	0	0	0	0	1	0	0	0	16726	1087	38	1	1405	1	TTLL4	2	219603802	Missense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08		219603802	23595571	3	419											
GIGYF2	26058	broad.mit.edu	37	2	233697734	233697736	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr2:233697734_233697736delGCA	ENST00000409547.1	+	24	3008_3010	c.2697_2699delGCA	c.(2695-2700)aggcag>agg	p.Q903del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q924del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q925del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q897del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.Q734del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q903del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q925del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	903	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGCGCCAGAGGCAGCAGCAGCAA	0.586																																						ENST00000373566.3											0			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2761-2766)aggcag>agg	GRB10 interacting GYF protein 2		,,,	22,4150		0,22,2064					,,,	5.4	1			16	44,8060		1,42,4009	no	coding,coding,coding,coding	GIGYF2	NM_015575.3,NM_001103148.1,NM_001103147.1,NM_001103146.1	,,,	1,64,6073	A1A1,A1R,RR		0.5429,0.5273,0.5376	,,,	,,,		66,12210				SO:0001651	inframe_deletion	26058			cell death		protein binding	g.chr2:233697734_233697736delGCA	U80751	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	"Trinucleotide (CAG) repeat containing"	11960	11960	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"GYF domain containing 2"	"GYF domain containing 2"	612003	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	9225980, 9734811, 12771153, 18358451, 19279319	Standard	Standard	NM_015575	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	uc002vtk.4	Q6Y7W6	Q6Y7W6	OTTHUMG00000153237	OTTHUMG00000153237	ENST00000409547.1:c.2697_2699delGCA	2.37:g.233697743_233697745delGCA	ENSP00000386537:p.Gln903del		GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q924del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q897del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q925del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q903del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.Q734del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q903del	p.Q925del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	23	2960_2962	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	903	Gln-rich.	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2763_2765delGCA	CCDS33401.1																																																																																									0.586	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	.	.	8	8	11	11	NM_001103146		2			4	0.33						2	4	0.33	-	233697736	GCA	-	233697734	7	5	23	1	0	1	0	1	0	0	0	0	6378	1194	42	0	2845	0	GIGYF2	2	233697734	In_Frame_Del	DEL	GCA	TCGA-V4-A9EU-01A-11D-A39W-08	14093932	233697734	9501639	4	420											
BAP1	8314	broad.mit.edu	37	3	52437840	52437840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr3:52437840G>A	ENST00000460680.1	-	13	1792	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q423*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTGTTGGGCTGCAGCACTGAC	0.567			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1321-1323)Cag>Tag	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						98	100	100					3																	52437840		2203	4300	6503	SO:0001587	stop_gained	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437840G>A	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1321C>T	3.37:g.52437840G>A	ENSP00000417132:p.Gln441*		BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q423*	p.Q441*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1792	-			441		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000460680.1	37	c.1321C>T	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230853	0.58777	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	6.05	6.05	0.98169	6.05	6.05	0.98169	.	0.183612	0.39341	N	0.001389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.7892	0.91966	0.0:0.0:1.0:0.0	.	.	.	.	X	441;423	.	ENSP00000296288:Q423X	Q	-	1	0	0	BAP1	52412880	52412880	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.561000	0.67339	2.880000	0.98712	0.655000	0.94253	CAG		0.567	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		89.546238	-16	-16	58	58			27	94.339159	94.339159	3	0.9	0	0	0	1	0	27	3	0.9	A	52437840	G	A	52437840	4	1	23	1	0	0	0	0	0	1	0	0	1311	1328	46	2	888	2	BAP1	3	52437840	Nonsense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08		52437840	145584590	5	421											
ZDHHC23	254887	broad.mit.edu	37	3	113675265	113675265	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr3:113675265G>C	ENST00000330212.3	+	4	1251	c.952G>C	c.(952-954)Ggg>Cgg	p.G318R	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G312R	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	318					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CTCGGTGTATGGGATCACACT	0.418																																						ENST00000330212.3											0			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						c.(952-954)Ggg>Cgg	zinc finger, DHHC-type containing 23						226	209	215					3																	113675265		2203	4300	6503	SO:0001583	missense	254887				integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113675265G>C	AK127025	AK127025	CCDS33827.1	CCDS33827.1	3q13.31	2008-05-02			2008-05-02			ENSG00000184307	ENSG00000184307	ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	"Zinc fingers, DHHC-type"	28654	28654	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_173570	NM_173570		Approved	MGC42530	uc003eau.3	uc003eau.3	Q8IYP9	Q8IYP9	OTTHUMG00000159335	OTTHUMG00000159335	ENST00000330212.3:c.952G>C	3.37:g.113675265G>C	ENSP00000330485:p.Gly318Arg		ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G312R	p.G318R	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN			4	1251	+			318		D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.952G>C	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920097	0.92249	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.24908	1.83;1.83	5.58	5.58	0.84498	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55062	-0.8199	10	0.51188	T	0.08	-1.5266	19.5775	0.95450	0.0:0.0:1.0:0.0	.	318	Q8IYP9	ZDH23_HUMAN	R	318;312	ENSP00000330485:G318R;ENSP00000417840:G312R	ENSP00000330485:G318R	G	+	1	0	0	ZDHHC23	115157955	115157955	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	9.209000	0.95087	2.634000	0.89283	0.650000	0.86243	GGG		0.418	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1		117.552074	-16	-16	103	103	NM_173570		35	123.689485	123.689485	4	0.897436	0	0	0	1	0	35	4	0.897436	C	113675265	G	C	113675265	3	2	23	1	0	0	0	0	1	0	0	0	17611	1348	47	5	962	5	ZDHHC23	3	113675265	Missense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08	61237425	113675265	84347165	6	422											
ARSB	411	broad.mit.edu	37	5	78260295	78260295	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr5:78260295T>C	ENST00000264914.4	-	3	1170	c.634A>G	c.(634-636)Aca>Gca	p.T212A	ARSB_ENST00000565165.1_Missense_Mutation_p.T212A|ARSB_ENST00000396151.3_Missense_Mutation_p.T212A	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	212					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		AATATGTTTGTTGAATACATA	0.373																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(634-636)Aca>Gca	arylsulfatase B						85	82	83					5																	78260295		2203	4300	6503	SO:0001583	missense	411			lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78260295T>C	M32373	M32373	CCDS4043.1, CCDS43334.1	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			2013-02-14			ENSG00000113273	ENSG00000113273	ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	"Arylsulfatase family"	714	714	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611542	611542						2303452	2303452	Standard	Standard	NM_000046	NM_000046		Approved		uc003kfq.3	uc003kfq.3	P15848	P15848	OTTHUMG00000108129	OTTHUMG00000108129	ENST00000264914.4:c.634A>G	5.37:g.78260295T>C	ENSP00000264914:p.Thr212Ala		ARSB_ENST00000396151.3_Missense_Mutation_p.T212A|ARSB_ENST00000565165.1_Missense_Mutation_p.T212A	p.T212A	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	3	1170	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	212		B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.634A>G	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504696	0.44558	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.98747	-5.11;-5.11	5.36	2.98	0.34508	5.36	2.98	0.34508	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.73962	2.25	0.54753	D	0.999987	B;B	0.31949	0.049;0.348	B;B	0.41691	0.029;0.364	D	0.96020	0.9008	10	0.48119	T	0.1	.	9.8251	0.40908	0.0:0.1289:0.0:0.8711	.	212;212	Q8N322;P15848	.;ARSB_HUMAN	A	212	ENSP00000264914:T212A;ENSP00000379455:T212A	ENSP00000264914:T212A	T	-	1	0	0	ARSB	78296051	78296051	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	1.851000	0.39338	0.437000	0.26423	0.528000	0.53228	ACA		0.373	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2		65.826906	-20	-20	46	46	NM_000046		19	65.832806	65.832806	18	0.513514	0	0	0	1	0	19	18	0.513514	C	78260295	T	C	78260295	3	2	23	1	0	0	0	0	1	0	0	0	988	1725	60	4	1024	4	ARSB	5	78260295	Missense_Mutation	SNP	T	TCGA-V4-A9EU-01A-11D-A39W-08		78260295	102654965	7	423											
MDN1	23195	ucsc.edu	37	6	90486405	90486405	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr6:90486405A>G	ENST00000369393.3	-	12	1850	c.1735T>C	c.(1735-1737)Tgt>Cgt	p.C579R	MDN1_ENST00000428876.1_Missense_Mutation_p.C579R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	579					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTGTGAAACAGTCTAGAGCC	0.343																																																	0																	115	107	110					6																	90486405		2202	4299	6501	SO:0001583	missense	23195							AF503925	AF503925	CCDS5024.1	CCDS5024.1	6q15	2014-01-28			2014-01-28			ENSG00000112159	ENSG00000112159	ENSG00000112159	ENSG00000112159				18302	18302	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										9205841, 12102729	9205841, 12102729	Standard	Standard	XM_005248699	XM_005248699		Approved	KIAA0301	uc003pnn.1	uc003pnn.1	Q9NU22	Q9NU22	OTTHUMG00000015213	OTTHUMG00000015213	ENST00000369393.3:c.1735T>C	6.37:g.90486405A>G	ENSP00000358400:p.Cys579Arg																	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37		CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822644	0.50739	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.38560	1.13;1.13;1.13	5.07	5.07	0.68467	5.07	5.07	0.68467	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.80616	2.505	0.80722	D	1	B	0.29571	0.249	B	0.34452	0.183	T	0.47535	-0.9110	10	0.62326	D	0.03	.	14.499	0.67709	1.0:0.0:0.0:0.0	.	579	Q9NU22	MDN1_HUMAN	R	579;579;506	ENSP00000358400:C579R;ENSP00000413970:C579R;ENSP00000409664:C506R	ENSP00000358400:C579R	C	-	1	0	0	MDN1	90543126	90543126	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.949000	0.87791	1.922000	0.55676	0.460000	0.39030	TGT		0.343	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			-20	-20	55	55			4			22							4	22		G	90486405	A	G	90486405	3	3	23	1	0	0	0	0	1	0	0	0	9415	188	7	4	15419	4	MDN1	6	90486405	Missense_Mutation	SNP	A	TCGA-V4-A9EU-01A-11D-A39W-08		90486405	80628662	8	424											
FAM171A1	221061	broad.mit.edu	37	10	15263054	15263054	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr10:15263054A>G	ENST00000378116.4	-	6	766	c.760T>C	c.(760-762)Tgg>Cgg	p.W254R	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	254						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCTTCAGCCACGTTCCTGTG	0.507																																						ENST00000378116.4											0			breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(760-762)Tgg>Cgg	family with sequence similarity 171, member A1						78	67	71					10																	15263054		2203	4300	6503	SO:0001583	missense	221061				integral to membrane		g.chr10:15263054A>G	AK022946	AK022946	CCDS31154.1	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468	ENSG00000148468	ENSG00000148468				23522	23522	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 10 open reading frame 38"	C10orf38	"chromosome 10 open reading frame 38"	C10orf38				Standard	Standard	NM_001010924	NM_001010924		Approved	FLJ12884	uc001iob.3	uc001iob.3	Q5VUB5	Q5VUB5	OTTHUMG00000017732	OTTHUMG00000017732	ENST00000378116.4:c.760T>C	10.37:g.15263054A>G	ENSP00000367356:p.Trp254Arg		FAM171A1_ENST00000477161.1_5'UTR	p.W254R	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			6	766	-			254		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.760T>C	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039878	0.55003	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.62788	-0.0	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81008	-0.1127	10	0.87932	D	0	-16.1467	16.1199	0.81342	1.0:0.0:0.0:0.0	.	254	Q5VUB5	F1711_HUMAN	R	254;255	ENSP00000367356:W254R	ENSP00000367356:W254R	W	-	1	0	0	FAM171A1	15303060	15303060	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	8.962000	0.93254	2.194000	0.70268	0.533000	0.62120	TGG		0.507	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1		39.267063	-26	-26	25	25	XM_167709		13	39.679683	39.679683	21	0.382353	0	0	0	1	0	13	21	0.382353	G	15263054	A	G	15263054	3	3	23	1	0	0	0	0	1	0	0	0	5490	159	6	4	1924	4	FAM171A1	10	15263054	Missense_Mutation	SNP	A	TCGA-V4-A9EU-01A-11D-A39W-08		15263054	120271693	9	425											
MS4A8B	83661	broad.mit.edu	37	11	60468456	60468456	+	Silent	SNP	G	G	A	rs148869742		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr11:60468456G>A	ENST00000300226.2	+	2	326	c.123G>A	c.(121-123)ccG>ccA	p.P41P		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	41						integral component of membrane (GO:0016021)											ACAGCCAGCCGCAAGTCCACC	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		18990	0		0	False		,,,				2504	0					ENST00000300226.2											0										c.(121-123)ccG>ccA	membrane-spanning 4-domains, subfamily A, member 8						113	105	107					11																	60468456		2203	4300	6503	SO:0001819	synonymous_variant	83661						g.chr11:60468456G>A	AF237905	AF237905	CCDS7990.1	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959	ENSG00000166959	ENSG00000166959				13380	13380	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606549	606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	11245982, 11401424	Standard	Standard	NM_031457	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	uc001npv.3	Q9BY19	Q9BY19	OTTHUMG00000167686	OTTHUMG00000167686	ENST00000300226.2:c.123G>A	11.37:g.60468456G>A				p.P41P	NM_031457.1	NP_113645.1					2	326	+					Q8TCA5	Silent	SNP	ENST00000300226.2	37	c.123G>A	CCDS7990.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.026	0.002253	0.07819	.	.	ENSG00000166959	ENST00000525458	.	.	.	3.74	-4.38	0.03622	3.74	-4.38	0.03622	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.27720	N	0.945149	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	-8.8858	1.9656	0.03395	0.1446:0.2097:0.1428:0.5028	.	.	.	.	H	23	.	.	R	+	2	0	0	MS4A8B	60225032	60225032	0.242000	0.23868	0.351000	0.25721	0.005000	0.04900	-1.613000	0.02059	-0.870000	0.04047	-2.477000	0.00200	CGC		0.532	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		74.663274	-36	-36	71	71			25	75.170734	75.170734	37	0.403226	0	0	0	1	0	25	37	0.403226	A	60468456	G	A	60468456	2	1	23	1	0	0	0	0	0	0	0	1	9867	1074	38	1		1	MS4A8B	11	60468456	Silent	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08		60468456	74538060	10	426											
LRP1	4035	ucsc.edu	37	12	57577629	57577629	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr12:57577629C>A	ENST00000243077.3	+	36	6332	c.5866C>A	c.(5866-5868)Cgt>Agt	p.R1956S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1956					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)	CCAGACGTGGCGTGAAGACGT	0.612																																																	0																	106	95	98					12																	57577629		2203	4300	6503	SO:0001583	missense	4035							X13916	X13916	CCDS8932.1	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384	ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	"CD molecules", "Low density lipoprotein receptors"	6692	6692	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			107770	107770	"alpha-2-macroglobulin receptor"	APR, A2MR	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	2548950	Standard	Standard	NM_002332	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	uc001snd.3	Q07954	Q07954	OTTHUMG00000044412	OTTHUMG00000044412	ENST00000243077.3:c.5866C>A	12.37:g.57577629C>A	ENSP00000243077:p.Arg1956Ser																	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37		CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242262	0.58995	.	.	ENSG00000123384	ENST00000243077	D	0.91180	-2.8	4.94	4.03	0.46877	4.94	4.03	0.46877	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000004	D	0.91476	0.7309	L	0.43598	1.365	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	D	0.87991	0.2749	10	0.14252	T	0.57	.	11.8504	0.52407	0.3158:0.6842:0.0:0.0	.	1956	Q07954	LRP1_HUMAN	S	1956	ENSP00000243077:R1956S	ENSP00000243077:R1956S	R	+	1	0	0	LRP1	55863896	55863896	0.995000	0.38212	0.968000	0.41197	0.820000	0.46376	0.407000	0.21049	1.254000	0.44035	0.561000	0.74099	CGT		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2			-34	-34	34	34	NM_002332		4			37							4	37		A	57577629	C	A	57577629	3	1	23	1	0	0	0	0	1	0	0	0	8951	768	27	5	6008	5	LRP1	12	57577629	Missense_Mutation	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08		57577629	76274266	11	427											
DDX51	317781	broad.mit.edu	37	12	132624744	132624744	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr12:132624744C>T	ENST00000397333.3	-	12	1712	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	558	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TGCTGATGAGCCTGCCGGGAC	0.692																																						ENST00000397333.3											0			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1672-1674)ctG>ctA	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51						30	34	33					12																	132624744		2141	4208	6349	SO:0001630	splice_region_variant	317781			rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132624744C>T	BC040185	BC040185	CCDS41865.1	CCDS41865.1	12q24.33	2005-10-12			2005-10-12				ENSG00000185163		ENSG00000185163		"DEAD-boxes"	"DEAD-boxes"	20082	20082	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_175066	NM_175066		Approved		uc001ujy.4	uc001ujy.4	Q8N8A6	Q8N8A6			ENST00000397333.3:c.1674-1G>A	12.37:g.132624744C>T				p.L558L	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	12	1712	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	558	Helicase C-terminal.	A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Splice_Site	SNP	ENST00000397333.3	37	c.1674G>A	CCDS41865.1																																																																																									0.692	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1		53.639605	-3	-3	38	38	NM_175066	Silent	18	53.639605	53.639605	18	0.5	0	0	0	1	0	18	18	0.5	T	132624744	C	T	132624744	5	4	23	1	0	0	0	0	0	0	1	0	4369	753	26	2	342	2	DDX51	12	132624744	Splice_Site	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08	75047115	132624744	1227151	12	428											
C14orf166	51637	broad.mit.edu	37	14	52471211	52471211	+	Silent	SNP	A	A	C			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr14:52471211A>C	ENST00000261700.3	+	8	877	c.712A>C	c.(712-714)Aga>Cga	p.R238R	C14orf166_ENST00000556760.1_3'UTR	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	238					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					GACAGACCACAGACTGGGAAA	0.438																																						ENST00000261700.3											0			endometrium(1)|large_intestine(3)|lung(2)	6						c.(712-714)Aga>Cga	chromosome 14 open reading frame 166						78	81	80					14																	52471211		2202	4300	6502	SO:0001819	synonymous_variant	51637				microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding	g.chr14:52471211A>C	AF151857	AF151857	CCDS9705.1	CCDS9705.1	14q22.1	2014-05-29			2014-05-29			ENSG00000087302	ENSG00000087302	ENSG00000087302	ENSG00000087302				23169	23169	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RLL motif containing 1"	"RLL motif containing 1"	610858	610858						10810093, 24608264	10810093, 24608264	Standard	Standard	NM_016039	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	uc010aod.3	Q9Y224	Q9Y224	OTTHUMG00000152332	OTTHUMG00000152332	ENST00000261700.3:c.712A>C	14.37:g.52471211A>C			C14orf166_ENST00000556760.1_3'UTR	p.R238R	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN			8	877	+	Breast(41;0.0639)|all_epithelial(31;0.101)		238			Silent	SNP	ENST00000261700.3	37	c.712A>C	CCDS9705.1																																																																																									0.438	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1		22.991266	-11	-11	40	40	NM_016039		8	23.71088	23.71088	17	0.32	0	0	0	1	0	8	17	0.32	C	52471211	A	C	52471211	2	2	23	1	0	0	0	0	0	0	0	1	1756	180	7	5		5	C14orf166	14	52471211	Silent	SNP	A	TCGA-V4-A9EU-01A-11D-A39W-08		52471211	54878329	13	429	7	2									
C14orf166	51637	broad.mit.edu	37	14	52471216	52471217	+	In_Frame_Ins	INS	-	-	ACT			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr14:52471216_52471217insACT	ENST00000261700.3	+	8	882_883	c.717_718insACT	c.(718-720)gga>ACTgga	p.239_240insT	C14orf166_ENST00000556760.1_3'UTR	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	239					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)	p.L239L(1)		endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					ACCACAGACTGGGAAAAGTTGG	0.436																																						ENST00000261700.3											1	Substitution - coding silent(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(2)	6						c.(718-720)gga>ACTgga	chromosome 14 open reading frame 166																																			SO:0001652	inframe_insertion	51637				microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding	g.chr14:52471216_52471217insACT	AF151857	AF151857	CCDS9705.1	CCDS9705.1	14q22.1	2014-05-29			2014-05-29			ENSG00000087302	ENSG00000087302	ENSG00000087302	ENSG00000087302				23169	23169	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RLL motif containing 1"	"RLL motif containing 1"	610858	610858						10810093, 24608264	10810093, 24608264	Standard	Standard	NM_016039	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	uc010aod.3	Q9Y224	Q9Y224	OTTHUMG00000152332	OTTHUMG00000152332	Exception_encountered	14.37:g.52471216_52471217insACT	ENSP00000261700:p.Leu239_Gly240insThr		C14orf166_ENST00000556760.1_3'UTR	p.239_240insT	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN			8	882_883	+	Breast(41;0.0639)|all_epithelial(31;0.101)		239			In_Frame_Ins	INS	ENST00000261700.3	37	c.717_718insACT	CCDS9705.1																																																																																									0.436	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1	.	.	-7	-7	42	42	NM_016039		10			18	0.36						10	18	0.36	ACT	52471217	-	ACT	52471216	7	5	23	1	0	1	1	0	0	0	0	0	1756	1335	47	0	747	0	C14orf166	14	52471216	In_Frame_Ins	INS	-	TCGA-V4-A9EU-01A-11D-A39W-08	5	52471216	54878324	14	430	7	2									
C16orf11	146325	broad.mit.edu	37	16	613805	613806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr16:613805_613806insG	ENST00000409413.3	+	2	790_791	c.511_512insG	c.(511-513)aggfs	p.R171fs		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		171	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGGGACCCAAGGGGCGTGGGT	0.738																																						ENST00000409413.3											0			central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(511-513)aggfs	chromosome 16 open reading frame 11																																			SO:0001589	frameshift_variant	146325						g.chr16:613805_613806insG																																																	ENST00000409413.3:c.515dupG	16.37:g.613809_613809dupG	ENSP00000386499:p.Arg171fs			p.R171fs	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			2	790_791	+			171	Pro-rich.	B8ZZ27|Q8N233|Q96AX3|Q96S23	Frame_Shift_Ins	INS	ENST00000409413.3	37	c.511_512insG	CCDS45365.1																																																																																									0.738	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1	.	.	-2	-2	7	7			2			4	0.33						2	4	0.33	G	613806	-	G	613805	7	5	23	1	0	1	1	0	0	0	0	0	1810	63	3	0	513	0	C16orf11	16	613805	Frame_Shift_Ins	INS	-	TCGA-V4-A9EU-01A-11D-A39W-08		613805	89740948	15	431											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		27.335887	-3	-3	78	78	NM_002067		10	28.777847	28.777847	25	0.285714	0	0	0	1	0	10	25	0.285714	T	3118942	A	T	3118942	3	4	23	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EU-01A-11D-A39W-08		3118942	56010041	16	432											
SLC12A5	57468	broad.mit.edu	37	20	44672542	44672542	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	g.chr20:44672542C>T	ENST00000454036.2	+	11	1482	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A455V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	478					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGTTTGGGGCCTGCATTGAG	0.557																																						ENST00000243964.3											0			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1363-1365)gCc>gTc	solute carrier family 12 (potassium/chloride transporter), member 5						130	122	125					20																	44672542		2203	4300	6503	SO:0001583	missense	57468			potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44672542C>T	AB033002	AB033002	CCDS13391.1, CCDS46610.1	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140	ENSG00000124140	ENSG00000124140		"Solute carriers"	"Solute carriers"	13818	13818	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606726	606726								Standard	Standard	NM_020708	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	uc010zxl.1	Q9H2X9	Q9H2X9	OTTHUMG00000032638	OTTHUMG00000032638	ENST00000454036.2:c.1433C>T	20.37:g.44672542C>T	ENSP00000387694:p.Ala478Val		SLC12A5_ENST00000454036.2_Missense_Mutation_p.A478V	p.A455V	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN			11	1462	+		Myeloproliferative disorder(115;0.0122)	478		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1364C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282302	0.95489	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98567	-5.0;-5.0	3.96	3.96	0.45880	3.96	3.96	0.45880	Amino acid permease domain (1);	0.000000	0.64402	D	0.000001	D	0.98801	0.9596	M	0.87328	2.875	0.80722	D	1	D;P	0.56746	0.977;0.69	P;P	0.62560	0.904;0.508	D	0.99418	1.0932	10	0.87932	D	0	.	15.1198	0.72434	0.0:1.0:0.0:0.0	.	478;455	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	478;455	ENSP00000387694:A478V;ENSP00000243964:A455V	ENSP00000243964:A455V	A	+	2	0	0	SLC12A5	44105949	44105949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.580000	0.82523	2.183000	0.69458	0.655000	0.94253	GCC		0.557	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		86.629274	-43	-43	115	115			30	87.452133	87.452133	47	0.38961	0	0	0	1	0	30	47	0.38961	T	44672542	C	T	44672542	3	4	23	1	0	0	0	0	1	0	0	0	14386	739	26	2	1531	2	SLC12A5	20	44672542	Missense_Mutation	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08		44672542	18352978	17	433											
SH2D5	400745	broad.mit.edu	37	1	21051092	21051092	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr1:21051092delG	ENST00000444387.2	-	6	824	c.427delC	c.(427-429)cagfs	p.Q143fs	SH2D5_ENST00000375031.1_Frame_Shift_Del_p.Q59fs|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	143										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAAGCCAGCTGGAAAGAGCGG	0.657																																						ENST00000375031.1											0			lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(175-177)cagfs	SH2 domain containing 5						13	16	15					1																	21051092		2019	4183	6202	SO:0001589	frameshift_variant	400745						g.chr1:21051092delG	AK124869, AK123236	AK124869, AK123236	CCDS41280.1, CCDS44080.1	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			2008-02-05			ENSG00000189410	ENSG00000189410	ENSG00000189410	ENSG00000189410				28819	28819	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001103161	NM_001103161		Approved		uc009vpy.1	uc009vpy.1	Q6ZV89	Q6ZV89	OTTHUMG00000002620	OTTHUMG00000002620	ENST00000444387.2:c.427delC	1.37:g.21051092delG	ENSP00000406026:p.Gln143fs		SH2D5_ENST00000444387.2_Frame_Shift_Del_p.Q143fs|SH2D5_ENST00000460804.1_5'UTR	p.Q59fs	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	799	-		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	59		B7Z3W3|Q5SSJ2	Frame_Shift_Del	DEL	ENST00000444387.2	37	c.175delC	CCDS44080.1																																																																																									0.657	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	.	.	2	2	6	6	XM_375698		2			4	0.33						2	4	0.33	-	21051092	G	-	21051092	7	5	24	1	0	1	0	1	0	0	0	0	14237	1357	47	0	864	0	SH2D5	1	21051092	Frame_Shift_Del	DEL	G	TCGA-V4-A9EV-01A-11D-A39W-08		21051092	228199529	1	434											
ARMC9	80210	ucsc.edu	37	2	232135739	232135739	+	Silent	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr2:232135739G>A	ENST00000349938.4	+	13	1358	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	388						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ACGTGGTGCGGCAGTACATGG	0.483																																																	0																	110	90	97					2																	232135739		2203	4300	6503	SO:0001819	synonymous_variant	80210							BC004514	BC004514	CCDS2484.1, CCDS74666.1	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			2013-02-14			ENSG00000135931	ENSG00000135931	ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	"Armadillo repeat containing"	20730	20730	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11347906	11347906	Standard	Standard	NM_025139	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	uc031rrs.1	Q7Z3E5	Q7Z3E5	OTTHUMG00000133229	OTTHUMG00000133229	ENST00000349938.4:c.1164G>A	2.37:g.232135739G>A																		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37		CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	9.289	1.050194	0.19827	.	.	ENSG00000135931	ENST00000424740	.	.	.	4.56	-5.45	0.02616	4.56	-5.45	0.02616	.	.	.	.	.	T	0.39759	0.1090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38693	-0.9649	4	.	.	.	-17.8376	4.1663	0.10308	0.2993:0.4623:0.1412:0.0973	.	.	.	.	D	91	.	.	G	+	2	0	0	ARMC9	231843983	231843983	0.021000	0.18746	0.809000	0.32408	0.843000	0.47879	-0.908000	0.04063	-1.087000	0.03081	-0.769000	0.03391	GGC		0.483	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3			-5	-5	50	50	NM_025139		4			37							4	37		A	232135739	G	A	232135739	2	1	24	1	0	0	0	0	0	0	0	1	958	1190	42	2		2	ARMC9	2	232135739	Silent	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		232135739	11063634	2	435											
BAP1	8314	broad.mit.edu	37	3	52440322	52440363	+	In_Frame_Del	DEL	TGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	TGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	-	rs367867008|rs138180791		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr3:52440322_52440363delTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	ENST00000460680.1	-	9	1160_1201	c.689_730delTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCCA	c.(688-732)ctgatggcagtggtgcccgaccgcaggatcaagtatgaggccagg>cgg	p.LMAVVPDRRIKYEA230del	BAP1_ENST00000296288.5_Splice_Site_p.DGSGAR221del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V234fs*15(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCG	0.628			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	pleura(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(688-732)ctgatggcagtggtgcccgaccgcaggatcaagtatgaggccagg>cgg	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001651	inframe_deletion	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52440322_52440363delTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.689_730delTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCCA	3:g.52440322_52440363delTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	ENSP00000417132:p.Leu230_Ala243del		BAP1_ENST00000296288.5_Splice_Site_p.DGSGAR221del	p.LMAVVPDRRIKYEA230del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	9	1160_1201	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	In_Frame_Del	DEL	ENST00000460680.1		c.689_730delTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCCA	CCDS2853.1																																																																																									0.628	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	1.980000e+01	2.555000e+01	-10	-10	34	34			7			15	0.348						7	15	0.348	-	52440363	TGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	-	52440322	7	5	24	1	0	1	0	1	0	0	0	0	1311	1579	55	0	1495	0	BAP1	3	52440322	In_Frame_Del	DEL	TGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	TCGA-V4-A9EV-01A-11D-A39W-08		52440322	145582108	3	436											
CHST2	9435	broad.mit.edu	37	3	142840445	142840445	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr3:142840445C>T	ENST00000309575.3	+	2	2171	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	263					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CTCGTCACCACTCTGCCCCGC	0.672																																						ENST00000309575.3											0			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(787-789)Ctc>Ttc	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2						20	24	23					3																	142840445		2201	4299	6500	SO:0001583	missense	9435			inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840445C>T	BC042160	BC042160	CCDS3129.1	CCDS3129.1	3q24	2007-03-14			2007-03-14			ENSG00000175040	ENSG00000175040	ENSG00000175040	ENSG00000175040		"Sulfotransferases, membrane-bound"	"Sulfotransferases, membrane-bound"	1970	1970	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603798	603798						10049591	10049591	Standard	Standard	NM_004267	NM_004267		Approved	C6ST	uc003evm.3	uc003evm.3	Q9Y4C5	Q9Y4C5	OTTHUMG00000159351	OTTHUMG00000159351	ENST00000309575.3:c.787C>T	3.37:g.142840445C>T	ENSP00000307911:p.Leu263Phe			p.L263F	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2171	+			263		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.787C>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415669	0.42817	.	.	ENSG00000175040	ENST00000309575	D	0.96459	-4.02	4.17	4.17	0.49024	4.17	4.17	0.49024	Sulfotransferase domain (1);	0.000000	0.56097	U	0.000026	D	0.96291	0.8790	L	0.36672	1.1	0.58432	D	0.999996	D	0.76494	0.999	D	0.79784	0.993	D	0.94391	0.7614	10	0.14656	T	0.56	-16.2734	16.6656	0.85252	0.0:1.0:0.0:0.0	.	263	Q9Y4C5	CHST2_HUMAN	F	263	ENSP00000307911:L263F	ENSP00000307911:L263F	L	+	1	0	0	CHST2	144323135	144323135	1.000000	0.71417	0.771000	0.31576	0.403000	0.30841	4.781000	0.62389	2.152000	0.67230	0.407000	0.27541	CTC		0.672	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1		25.904978	-11	-11	13	13	NM_004267		8	26.741604	26.741604	2	0.8	0	0	0	1	0	8	2	0.8	T	142840445	C	T	142840445	3	4	24	1	0	0	0	0	1	0	0	0	3404	565	20	3	789	3	CHST2	3	142840445	Missense_Mutation	SNP	C	TCGA-V4-A9EV-01A-11D-A39W-08	90400123	142840445	55181985	4	437											
H2AFZ	3015	broad.mit.edu	37	4	100870470	100870470	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr4:100870470G>A	ENST00000296417.5	-	3	372	c.155C>T	c.(154-156)gCt>gTt	p.A52V	RP11-15B17.1_ENST00000501976.2_RNA|RP11-15B17.1_ENST00000507494.1_RNA|H2AFZ_ENST00000529158.1_5'UTR|DNAJB14_ENST00000471738.1_5'Flank|RP11-15B17.1_ENST00000514624.1_RNA|DNAJB14_ENST00000442697.2_5'Flank	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	52					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|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 distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		GCTGTACACAGCGGCAGTCGC	0.542											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296417.5											0			breast(1)|endometrium(3)|lung(1)	5						c.(154-156)gCt>gTt	H2A histone family, member Z						53	51	51					4																	100870470		2203	4300	6503	SO:0001583	missense	3015			nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870470G>A	X52317	X52317	CCDS3654.1	CCDS3654.1	4q23	2011-01-27			2011-01-27			ENSG00000164032	ENSG00000164032	ENSG00000164032	ENSG00000164032		"Histones / Replication-independent"	"Histones / Replication-independent"	4741	4741	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142763	142763		H2AZ		H2AZ		1697587	1697587	Standard	Standard	XM_005262971	XM_005262971		Approved	H2A.Z	uc003hvo.1	uc003hvo.1	P0C0S5	P0C0S5	OTTHUMG00000131048	OTTHUMG00000131048	ENST00000296417.5:c.155C>T	4.37:g.100870470G>A	ENSP00000296417:p.Ala52Val	1354	H2AFZ_ENST00000529158.1_5'UTR	p.A52V	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	3	372	-			52		B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.155C>T	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999941	0.93227	.	.	ENSG00000164032	ENST00000296417	T	0.65178	-0.14	3.75	3.75	0.43078	3.75	3.75	0.43078	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.78637	2.42	0.80722	D	1	D	0.67145	0.996	P	0.58077	0.832	T	0.81028	-0.1118	10	0.72032	D	0.01	.	15.7657	0.78126	0.0:0.0:1.0:0.0	.	52	P0C0S5	H2AZ_HUMAN	V	52	ENSP00000296417:A52V	ENSP00000296417:A52V	A	-	2	0	0	H2AFZ	101089493	101089493	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.839000	0.75364	1.925000	0.55765	0.650000	0.86243	GCT		0.542	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1		38.163812	14	14	55	55	NM_002106		13	38.885025	38.885025	24	0.351351	0	0	0	1	0	13	24	0.351351	A	100870470	G	A	100870470	3	1	24	1	0	0	0	0	1	0	0	0	6931	971	34	2	243	2	H2AFZ	4	100870470	Missense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		100870470	90283806	5	438											
NR3C1	2908	broad.mit.edu	37	5	142780179	142780179	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr5:142780179G>A	ENST00000343796.2	-	2	1219	c.226C>T	c.(226-228)Cca>Tca	p.P76S	NR3C1_ENST00000231509.3_Missense_Mutation_p.P76S|NR3C1_ENST00000394466.2_Missense_Mutation_p.P76S|NR3C1_ENST00000503201.1_Missense_Mutation_p.P76S|NR3C1_ENST00000394464.2_Missense_Mutation_p.P76S|NR3C1_ENST00000424646.2_Missense_Mutation_p.P76S|NR3C1_ENST00000504572.1_Missense_Mutation_p.P76S|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.P76S	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	76	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GACAGATCTGGCTGCTGCGCA	0.493																																						ENST00000343796.2											0			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(226-228)Cca>Tca	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)						132	145	140					5																	142780179		2203	4300	6503	SO:0001583	missense	2908			chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142780179G>A	X03225	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580	ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	"Nuclear hormone receptors"	7978	7978	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138040	138040	"nuclear receptor subfamily 3, group C, member 1"	GRL	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	2867473	Standard	Standard	NM_001204258	NM_001204258		Approved	GR	uc003lnb.3	uc003lnb.3	P04150	P04150	OTTHUMG00000129677	OTTHUMG00000129677	ENST00000343796.2:c.226C>T	5.37:g.142780179G>A	ENSP00000343205:p.Pro76Ser		NR3C1_ENST00000394466.2_Missense_Mutation_p.P76S|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394464.2_Missense_Mutation_p.P76S|NR3C1_ENST00000504572.1_Missense_Mutation_p.P76S|NR3C1_ENST00000424646.2_Missense_Mutation_p.P76S|NR3C1_ENST00000503201.1_Missense_Mutation_p.P76S|NR3C1_ENST00000231509.3_Missense_Mutation_p.P76S|NR3C1_ENST00000415690.2_Missense_Mutation_p.P76S	p.P76S	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1219	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	76	Modulating.	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.226C>T	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705615	0.68615	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	T;T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.80746	2.51	0.80722	D	1	P;B;P	0.48998	0.918;0.201;0.756	P;B;P	0.50708	0.648;0.26;0.524	T	0.57225	-0.7848	10	0.54805	T	0.06	.	18.3334	0.90279	0.0:0.0:1.0:0.0	.	76;76;76	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	S	76	ENSP00000377977:P76S;ENSP00000343205:P76S;ENSP00000387672:P76S;ENSP00000405282:P76S;ENSP00000422518:P76S;ENSP00000377979:P76S;ENSP00000231509:P76S;ENSP00000427672:P76S;ENSP00000424747:P76S;ENSP00000425313:P76S;ENSP00000420856:P76S;ENSP00000426478:P76S;ENSP00000425374:P76S	ENSP00000231509:P76S	P	-	1	0	0	NR3C1	142760372	142760372	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	6.173000	0.71937	2.400000	0.81607	0.561000	0.74099	CCA		0.493	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		154.332149	-45	-45	170	170			50	155.058844	155.058844	70	0.416667	0	0	0	1	0	50	70	0.416667	A	142780179	G	A	142780179	3	1	24	1	0	0	0	0	1	0	0	0	10630	1203	42	2	2194	2	NR3C1	5	142780179	Missense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		142780179	38135081	6	439											
SYNE1	23345	broad.mit.edu	37	6	152763338	152763338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr6:152763338G>A	ENST00000367255.5	-	31	4481	c.3880C>T	c.(3880-3882)Cag>Tag	p.Q1294*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1301*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1301*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.Q1284*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1360*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1294					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGATCTGCTGCTGCACATCT	0.542										HNSCC(10;0.0054)																												ENST00000367255.5											0			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3880-3882)Cag>Tag	spectrin repeat containing, nuclear envelope 1						81	71	74					6																	152763338		2203	4300	6503	SO:0001587	stop_gained	23345			cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763338G>A	AB018339	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			2014-09-17			ENSG00000131018	ENSG00000131018	ENSG00000131018	ENSG00000131018				17089	17089	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	608441	"chromosome 6 open reading frame 98"	C6orf98	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	9872452, 10878022	Standard	Standard	NM_182961	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	uc003qou.4	Q8NF91	Q8NF91	OTTHUMG00000015841	OTTHUMG00000015841	ENST00000367255.5:c.3880C>T	6.37:g.152763338G>A	ENSP00000356224:p.Gln1294*		SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1360*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1301*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1301*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.Q1294*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.Q1284*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.Q1294*	p.Q1294*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4481	-		Ovarian(120;0.0955)	1294		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.3880C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	43	10.124505	0.99342	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	.	.	.	5.41	2.39	0.29439	5.41	2.39	0.29439	.	0.237208	0.29551	N	0.011825	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.1528	0.59498	0.0:0.314:0.5746:0.1115	.	.	.	.	X	1294;1301;1294;1301;1360;1294;1284;1294	.	ENSP00000265368:Q1294X	Q	-	1	0	0	SYNE1	152805031	152805031	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	1.698000	0.37794	0.710000	0.31997	0.650000	0.86243	CAG		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		42.544245	-10	-10	77	77	NM_182961		17	45.557482	45.557482	46	0.269841	0	0	0	1	0	17	46	0.269841	A	152763338	G	A	152763338	4	1	24	1	0	0	0	0	0	1	0	0	15442	1328	46	2	23050	2	SYNE1	6	152763338	Nonsense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		152763338	18351729	7	440											
FBXL13	222235	broad.mit.edu	37	7	102669190	102669190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr7:102669190C>T	ENST00000313221.4	-	4	500	c.74G>A	c.(73-75)tGg>tAg	p.W25*	FBXL13_ENST00000393772.2_Nonsense_Mutation_p.W25*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.W25*|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.W25*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.W25*|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.W25*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.W25*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.W25*|FBXL13_ENST00000471074.1_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	25										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TATGTCTCTCCAAGTGCTGCA	0.318																																						ENST00000393772.2											0			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(73-75)tGg>tAg	F-box and leucine-rich repeat protein 13						79	71	74					7																	102669190		2203	4300	6503	SO:0001587	stop_gained	222235						g.chr7:102669190C>T	BC031285	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			2014-07-18			ENSG00000161040	ENSG00000161040	ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	"F-boxes / Leucine-rich repeats"	21658	21658	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609080	609080								Standard	Standard	NM_145032	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	uc003vaq.2	Q8NEE6	Q8NEE6	OTTHUMG00000157224	OTTHUMG00000157224	ENST00000313221.4:c.74G>A	7.37:g.102669190C>T	ENSP00000321927:p.Trp25*		FBXL13_ENST00000379305.3_Nonsense_Mutation_p.W25*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.W25*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.W25*|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.W25*|FBXL13_ENST00000456695.1_Nonsense_Mutation_p.W25*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.W25*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.W25*	p.W25*			Q8NEE6	FXL13_HUMAN			4	500	-			25		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Nonsense_Mutation	SNP	ENST00000313221.4	37	c.74G>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	37	6.582179	0.97680	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	.	.	.	3.94	3.94	0.45596	3.94	3.94	0.45596	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7814	0.52018	0.0:1.0:0.0:0.0	.	.	.	.	X	25;25;25;25;25;25;25;25;115	.	ENSP00000321927:W25X	W	-	2	0	0	FBXL13	102456426	102456426	0.998000	0.40836	0.922000	0.36590	0.575000	0.36095	2.871000	0.48459	2.489000	0.83994	0.460000	0.39030	TGG		0.318	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1		2.466144	-19	-19	75	75	NM_145032		4	9.631055	9.631055	39	0.093023	0	0	0	1	0	4	39	0.093023	T	102669190	C	T	102669190	4	4	24	1	0	0	0	0	0	1	0	0	5709	595	21	3	2201	3	FBXL13	7	102669190	Nonsense_Mutation	SNP	C	TCGA-V4-A9EV-01A-11D-A39W-08		102669190	56469473	8	441											
PRKD1	5587	broad.mit.edu	37	14	30108044	30108044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr14:30108044G>A	ENST00000331968.5	-	5	992	c.763C>T	c.(763-765)Cga>Tga	p.R255*	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Nonsense_Mutation_p.R263*	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	255					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGAATTGGTCGTCCAATGTAT	0.418																																						ENST00000331968.5											0			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(763-765)Cga>Tga	protein kinase D1						98	97	97					14																	30108044		2203	4300	6503	SO:0001587	stop_gained	5587			cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30108044G>A			CCDS9637.1	CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	9407	9407	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605435	605435	"protein kinase C, mu"	PRKCM	"protein kinase C, mu"	PRKCM		8119958, 10965134	8119958, 10965134	Standard	Standard	NM_002742	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	uc001wqh.3	Q15139	Q15139	OTTHUMG00000140203	OTTHUMG00000140203	ENST00000331968.5:c.763C>T	14.37:g.30108044G>A	ENSP00000333568:p.Arg255*		PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Nonsense_Mutation_p.R263*	p.R255*	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	5	992	-	Hepatocellular(127;0.0604)		255		A6NL64|B2RAF6	Nonsense_Mutation	SNP	ENST00000331968.5	37	c.763C>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	37	6.102455	0.97286	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	.	.	.	5.45	3.54	0.40534	5.45	3.54	0.40534	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9893	14.728	0.69360	0.0:0.0:0.7502:0.2498	.	.	.	.	X	255;263	.	ENSP00000333568:R255X	R	-	1	2	2	PRKD1	29177795	29177795	1.000000	0.71417	0.987000	0.45799	0.862000	0.49288	3.985000	0.56930	0.712000	0.32039	0.650000	0.86243	CGA		0.418	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2		69.802672	2	2	105	105	NM_002742		23	70.063508	70.063508	31	0.425926	0	0	0	1	0	23	31	0.425926	A	30108044	G	A	30108044	4	1	24	1	0	0	0	0	0	1	0	0	12518	1153	40	1	2031	1	PRKD1	14	30108044	Nonsense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		30108044	77241496	9	442											
EXD1	161829	broad.mit.edu	37	15	41501729	41501729	+	Silent	SNP	T	T	C	rs370262959		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr15:41501729T>C	ENST00000314992.5	-	5	520	c.330A>G	c.(328-330)gtA>gtG	p.V110V	EXD1_ENST00000458580.2_Silent_p.V168V	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	110	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CATGGCGACATACATTCGCTC	0.378																																						ENST00000314992.5											0			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(328-330)gtA>gtG	exonuclease 3'-5' domain containing 1	T		0,4406		0,0,2203	68	62	64		330	1.8	1	15		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EXD1	NM_152596.2		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		110/515	41501729	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	161829			nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41501729T>C	BC030628	BC030628	CCDS10072.1, CCDS66738.1	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997	ENSG00000178997	ENSG00000178997				28507	28507	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"exonuclease 3'-5' domain-like 1"	EXDL1	"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	12477932	Standard	Standard	NM_001286441	NM_001286441		Approved	MGC33637	uc001znk.3	uc001znk.3	Q8NHP7	Q8NHP7	OTTHUMG00000130232	OTTHUMG00000130232	ENST00000314992.5:c.330A>G	15.37:g.41501729T>C			EXD1_ENST00000458580.2_Silent_p.V168V	p.V110V	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN			5	520	-			110	3'-5' exonuclease.	A8K909|B7Z839|Q6ZW94	Silent	SNP	ENST00000314992.5	37	c.330A>G	CCDS10072.1																																																																																									0.378	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2		32.881280	2	2	53	53	NM_152596		12	35.605128	35.605128	36	0.25	0	0	0	1	0	12	36	0.25	C	41501729	T	C	41501729	2	2	24	1	0	0	0	0	0	0	0	1	5297	1393	49	4		4	EXD1	15	41501729	Silent	SNP	T	TCGA-V4-A9EV-01A-11D-A39W-08		41501729	61029663	10	443											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		23.462308	3	3	84	84	NM_002067		9	24.684178	24.684178	22	0.290323	0	0	0	1	0	9	22	0.290323	T	3118942	A	T	3118942	3	4	24	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9EV-01A-11D-A39W-08		3118942	56010041	11	444											
MEGF8	1954	broad.mit.edu	37	19	42857739	42857739	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr19:42857739G>A	ENST00000251268.6	+	21	3673	c.3673G>A	c.(3673-3675)Gac>Aac	p.D1225N	MEGF8_ENST00000334370.4_Missense_Mutation_p.D1158N	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1225	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGCCACTGCGACAACCTCAG	0.692																																						ENST00000334370.4											0			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3472-3474)Gac>Aac	multiple EGF-like-domains 8						13	12	12					19																	42857739		2197	4282	6479	SO:0001583	missense	1954				integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42857739G>A	AB011541	AB011541	CCDS12604.2, CCDS62693.1	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	ENSG00000105429	ENSG00000105429				3233	3233	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	"HBV pre s2 binding protein 1"	604267	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	9693030	Standard	Standard	NM_001410	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	uc002otm.5	Q7Z7M0	Q7Z7M0	OTTHUMG00000150342	OTTHUMG00000150342	ENST00000251268.6:c.3673G>A	19.37:g.42857739G>A	ENSP00000251268:p.Asp1225Asn		MEGF8_ENST00000251268.6_Missense_Mutation_p.D1225N	p.D1158N	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			20	4107	+		Prostate(69;0.00682)	1225		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.3472G>A		.	.	.	.	.	.	.	.	.	.	G	15.97	2.989551	0.53934	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.62941	-0.01;-0.01	5.47	4.37	0.52481	5.47	4.37	0.52481	EGF-like, laminin (3);	0.065812	0.64402	D	0.000011	T	0.62307	0.2417	L	0.37850	1.14	0.80722	D	1	D;D	0.67145	0.996;0.987	P;P	0.58331	0.837;0.597	T	0.54221	-0.8326	10	0.11182	T	0.66	-36.3793	13.4243	0.61015	0.0:0.1588:0.8412:0.0	.	1225;1158	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	N	1158;1225	ENSP00000334219:D1158N;ENSP00000251268:D1225N	ENSP00000251268:D1225N	D	+	1	0	0	MEGF8	47549579	47549579	0.999000	0.42202	0.998000	0.56505	0.976000	0.68499	3.172000	0.50832	2.580000	0.87095	0.561000	0.74099	GAC		0.692	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		9.725300	6	6	13	13	NM_001410		3	9.7253	9.7253	3	0.5	0	0	0	1	0	3	3	0.5	A	42857739	G	A	42857739	3	1	24	1	0	0	0	0	1	0	0	0	9463	1058	37	1	3550	1	MEGF8	19	42857739	Missense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08	39738797	42857739	16271244	12	445											
HIRA	7290	broad.mit.edu	37	22	19343354	19343354	+	Silent	SNP	C	C	T			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	g.chr22:19343354C>T	ENST00000263208.5	-	21	2746	c.2490G>A	c.(2488-2490)acG>acA	p.T830T	HIRA_ENST00000541063.1_Silent_p.T786T|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000340170.4_Silent_p.T623T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	830	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCCATGCTGCGTCAGCAAGA	0.478																																						ENST00000263208.5											0			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(2488-2490)acG>acA	histone cell cycle regulator						165	114	131					22																	19343354		2203	4300	6503	SO:0001819	synonymous_variant	7290			chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19343354C>T	X75296	X75296	CCDS13759.1	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084	ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	"WD repeat domain containing"	4916	4916	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	"DiGeorge critical region gene 1"	600237	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	8111380, 7633437, 9731536	Standard	Standard	NM_003325	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	uc002zpf.1	P54198	P54198	OTTHUMG00000150134	OTTHUMG00000150134	ENST00000263208.5:c.2490G>A	22.37:g.19343354C>T			HIRA_ENST00000340170.4_Silent_p.T623T|HIRA_ENST00000541063.1_Silent_p.T786T|HIRA_ENST00000546308.1_Intron	p.T830T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			21	2746	-	Colorectal(54;0.0993)		830	Interaction with histone H4.	Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.2490G>A	CCDS13759.1																																																																																									0.478	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2		23.591709	10	10	51	51	NM_003325		8	24.311082	24.311082	17	0.32	0	0	0	1	0	8	17	0.32	T	19343354	C	T	19343354	2	4	24	1	0	0	0	0	0	0	0	1	7120	755	27	1		1	HIRA	22	19343354	Silent	SNP	C	TCGA-V4-A9EV-01A-11D-A39W-08		19343354	31961212	13	446											
CNST	163882	broad.mit.edu	37	1	246823587	246823587	+	Silent	SNP	A	A	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr1:246823587A>G	ENST00000366513.4	+	10	2192	c.1923A>G	c.(1921-1923)ccA>ccG	p.P641P		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	641					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						AACACAAACCATCTAAGCGAA	0.428																																						ENST00000366513.4											0			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(1921-1923)ccA>ccG	consortin, connexin sorting protein						181	164	170					1																	246823587		2203	4300	6503	SO:0001819	synonymous_variant	163882			positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246823587A>G	AK056563	AK056563	CCDS1628.1, CCDS44343.1	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	26486	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	"protein phosphatase 1, regulatory subunit 64"	613439	613439	"chromosome 1 open reading frame 71"	C1orf71	"chromosome 1 open reading frame 71"	C1orf71		19864490	19864490	Standard	Standard	NM_152609	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	uc001ibp.3	Q6PJW8	Q6PJW8	OTTHUMG00000040090	OTTHUMG00000040090	ENST00000366513.4:c.1923A>G	1.37:g.246823587A>G				p.P641P	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			10	2192	+			641		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.1923A>G	CCDS1628.1																																																																																									0.428	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1		141.202139	-22	-22	93	93	NM_152609		47	143.605281	143.605281	85	0.356061	0	0	0	1	0	47	85	0.356061	G	246823587	A	G	246823587	2	3	25	1	0	0	0	0	0	0	0	1	3634	204	8	4		4	CNST	1	246823587	Silent	SNP	A	TCGA-V4-A9EW-01A-11D-A39W-08		246823587	2427034	1	447											
KCNK3	3777	broad.mit.edu	37	2	26950643	26950643	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:26950643G>A	ENST00000302909.3	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	131					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CTGGGCGAGCGCATCAACACC	0.652																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3											0			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(391-393)cGc>cAc	potassium channel, subfamily K, member 3						86	78	81					2																	26950643		2203	4300	6503	SO:0001583	missense	3777			synaptic transmission	integral to plasma membrane		g.chr2:26950643G>A	AF006823	AF006823	CCDS1727.1	CCDS1727.1	2p23	2012-03-07			2012-03-07			ENSG00000171303	ENSG00000171303	ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	6278	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603220	603220						9312005, 9721223, 16382106	9312005, 9721223, 16382106	Standard	Standard	NM_002246	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	uc002rhn.2	O14649	O14649	OTTHUMG00000125530	OTTHUMG00000125530	ENST00000302909.3:c.392G>A	2.37:g.26950643G>A	ENSP00000306275:p.Arg131His			p.R131H	NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN			2	517	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		131		Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.392G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844252	0.91197	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.32272	1.46	5.27	5.27	0.74061	5.27	5.27	0.74061	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52510	-0.8566	10	0.87932	D	0	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	131	O14649	KCNK3_HUMAN	H	8;131	ENSP00000306275:R131H	ENSP00000306275:R131H	R	+	2	0	0	KCNK3	26804147	26804147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.619000	0.88677	0.561000	0.74099	CGC		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2		-7.025675	-8	-8	62	62	NM_002246		3	6.418006	6.418006	59	0.048387	0	0	0	1	0	3	59	0.048387	A	26950643	G	A	26950643	3	1	25	1	0	0	0	0	1	0	0	0	8067	1087	38	1	398	1	KCNK3	2	26950643	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		26950643	216248730	2	448											
USP34	9736	broad.mit.edu	37	2	61633100	61633100	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:61633100T>G	ENST00000398571.2	-	3	371	c.295A>C	c.(295-297)Aat>Cat	p.N99H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	99					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTGCTTGATTACTCTCATCT	0.353																																						ENST00000398571.2											0			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(295-297)Aat>Cat	ubiquitin specific peptidase 34						189	171	177					2																	61633100		1876	4108	5984	SO:0001583	missense	9736			positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61633100T>G	AB011142	AB011142	CCDS42686.1	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464	ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	"Ubiquitin-specific peptidases"	20066	20066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615295	615295	"ubiquitin specific protease 34"		"ubiquitin specific protease 34"			12838346	12838346	Standard	Standard	NM_014709	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	uc002sbe.3	Q70CQ2	Q70CQ2	OTTHUMG00000152265	OTTHUMG00000152265	ENST00000398571.2:c.295A>C	2.37:g.61633100T>G	ENSP00000381577:p.Asn99His			p.N99H	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		3	371	-			99		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.295A>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307229	0.40795	.	.	ENSG00000115464	ENST00000398571	T	0.14893	2.47	6.17	6.17	0.99709	6.17	6.17	0.99709	.	.	.	.	.	T	0.16128	0.0388	L	0.29908	0.895	0.36594	D	0.874275	P	0.50943	0.94	B	0.41723	0.365	T	0.05370	-1.0889	9	0.49607	T	0.09	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	99	Q70CQ2	UBP34_HUMAN	H	99	ENSP00000381577:N99H	ENSP00000381577:N99H	N	-	1	0	0	USP34	61486604	61486604	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.773000	0.38563	2.371000	0.80710	0.533000	0.62120	AAT		0.353	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		-19.368888	7	7	146	146			3	6.605565	6.605565	103	0.028302	0	0	0	1	0	3	103	0.028302	G	61633100	T	G	61633100	3	3	25	1	0	0	0	0	1	0	0	0	17062	1754	61	5	10657	5	USP34	2	61633100	Missense_Mutation	SNP	T	TCGA-V4-A9EW-01A-11D-A39W-08	34682457	61633100	181566273	3	449											
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(5)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)Cgt>Tgt	splicing factor 3b, subunit 1, 155kDa						93	90	91					2																	198267484		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys			p.R625C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1964	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	0	SF3B1	197975729	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		76.893558	6	6	60	60			24	77.268912	77.268912	34	0.413793	0	0	0	1	0	24	34	0.413793	A	198267484	G	A	198267484	3	1	25	1	0	0	0	0	1	0	0	0	14149	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08	136634384	198267484	44931889	4	450											
WDFY3	23001	broad.mit.edu	37	4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr4:85715780G>A	ENST00000295888.4	-	21	3786	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1127C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1127					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTGCTCGGCGCACAACAGTA	0.448																																						ENST00000322366.6											0			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3379-3381)Cgc>Tgc	WD repeat and FYVE domain containing 3						131	132	132					4																	85715780		2203	4300	6503	SO:0001583	missense	23001				cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85715780G>A	AB023210	AB023210	CCDS3609.1	CCDS3609.1	4q21.3	2013-01-09			2013-01-09			ENSG00000163625	ENSG00000163625	ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	20751	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10231032	10231032	Standard	Standard	NM_014991	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	uc003hpd.3	Q8IZQ1	Q8IZQ1	OTTHUMG00000130424	OTTHUMG00000130424	ENST00000295888.4:c.3379C>T	4.37:g.85715780G>A	ENSP00000295888:p.Arg1127Cys		WDFY3_ENST00000295888.4_Missense_Mutation_p.R1127C	p.R1127C			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	21	3786	-		Hepatocellular(203;0.114)	1127		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3379C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133401	0.56828	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.58940	0.3;0.3	5.16	5.16	0.70880	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.75013	-0.3467	10	0.46703	T	0.11	.	12.6981	0.57016	0.0:0.0:0.7124:0.2876	.	1127	Q8IZQ1	WDFY3_HUMAN	C	1127	ENSP00000318466:R1127C;ENSP00000295888:R1127C	ENSP00000295888:R1127C	R	-	1	0	0	WDFY3	85934804	85934804	1.000000	0.71417	0.965000	0.40720	0.278000	0.26855	5.903000	0.69877	2.563000	0.86464	0.650000	0.86243	CGC		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		-24.014769	21	21	130	130	NM_014991		4	6.792541	6.792541	124	0.03125	0	0	0	1	0	4	124	0.03125	A	85715780	G	A	85715780	3	1	25	1	0	0	0	0	1	0	0	0	17267	1087	38	1	7393	1	WDFY3	4	85715780	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		85715780	105438496	5	451											
PKHD1L1	93035	broad.mit.edu	37	8	110503272	110503286	+	In_Frame_Del	DEL	ATTTGGGACAGATGG	ATTTGGGACAGATGG	-	rs182303219	byFrequency	TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr8:110503272_110503286delATTTGGGACAGATGG	ENST00000378402.5	+	61	10160_10174	c.10056_10070delATTTGGGACAGATGG	c.(10054-10071)gtatttgggacagatgga>gta	p.FGTDG3353del		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3353					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D3358H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATTGGTGTATTTGGGACAGATGGATTGGACATA	0.381										HNSCC(38;0.096)																												ENST00000378402.5											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10054-10071)gtatttgggacagatgga>gta	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																			SO:0001651	inframe_deletion	93035			immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110503272_110503286delATTTGGGACAGATGG	AY219181	AY219181	CCDS47911.1	CCDS47911.1	8q23	2003-03-28			2003-03-28			ENSG00000205038	ENSG00000205038	ENSG00000205038	ENSG00000205038				20313	20313	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607843	607843						12620974	12620974	Standard	Standard	NM_177531	NM_177531		Approved		uc003yne.3	uc003yne.3	Q86WI1	Q86WI1	OTTHUMG00000164934	OTTHUMG00000164934	ENST00000378402.5:c.10056_10070delATTTGGGACAGATGG	8.37:g.110503272_110503286delATTTGGGACAGATGG	ENSP00000367655:p.Phe3353_Gly3357del			p.FGTDG3353del	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		61	10160_10174	+			3353		Q567P2|Q9UF27	In_Frame_Del	DEL	ENST00000378402.5	37	c.10056_10070delATTTGGGACAGATGG	CCDS47911.1																																																																																									0.381	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	.	.	28	28	78	78	NM_177531		8			62	0.11						8	62	0.11	-	110503286	ATTTGGGACAGATGG	-	110503272	7	5	25	1	0	1	0	1	0	0	0	0	11972	436	16	0	10298	0	PKHD1L1	8	110503272	In_Frame_Del	DEL	ATTTGGGACAGATGG	TCGA-V4-A9EW-01A-11D-A39W-08		110503272	35860750	6	452											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		95.935905	-1	-1	111	111	NM_002072		30	96.591659	96.591659	45	0.4	0	0	0	1	0	30	45	0.4	G	80409488	T	G	80409488	3	3	25	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EW-01A-11D-A39W-08		80409488	60803943	7	453											
SLC5A12	159963	broad.mit.edu	37	11	26725463	26725463	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:26725463G>A	ENST00000396005.3	-	5	866	c.557C>T	c.(556-558)gCa>gTa	p.A186V	SLC5A12_ENST00000280467.6_Missense_Mutation_p.A186V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	186					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CATCTGAAATGCATCTGTCCA	0.423																																						ENST00000396005.3											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(556-558)gCa>gTa	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12						216	192	200					11																	26725463		2203	4299	6502	SO:0001583	missense	159963			sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725463G>A	BC049207	BC049207	CCDS7860.2	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942	ENSG00000148942	ENSG00000148942		"Solute carriers"	"Solute carriers"	28750	28750	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612455	612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"		"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	12477932	Standard	Standard	NM_178498	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	uc001mra.2	Q1EHB4	Q1EHB4	OTTHUMG00000150706	OTTHUMG00000150706	ENST00000396005.3:c.557C>T	11.37:g.26725463G>A	ENSP00000379326:p.Ala186Val		SLC5A12_ENST00000280467.6_Missense_Mutation_p.A186V	p.A186V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			5	866	-			186		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.557C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374686	0.11409	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87103	-2.21;-2.21	5.16	4.24	0.50183	5.16	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	N	0.00521	-1.4	0.50313	D	0.999869	B;B	0.25609	0.006;0.13	B;B	0.36666	0.023;0.23	T	0.68142	-0.5487	10	0.02654	T	1	.	14.0444	0.64695	0.0748:0.0:0.9252:0.0	.	186;186	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	V	186	ENSP00000379326:A186V;ENSP00000280467:A186V	ENSP00000280467:A186V	A	-	2	0	0	SLC5A12	26682039	26682039	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.859000	0.55987	2.412000	0.81896	0.484000	0.47621	GCA		0.423	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1		200.037092	23	23	172	172	NM_178498		66	200.03877	200.03877	67	0.496241	0	0	0	1	0	66	67	0.496241	A	26725463	G	A	26725463	3	1	25	1	0	0	0	0	1	0	0	0	14664	1319	46	2	1343	2	SLC5A12	11	26725463	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		26725463	108281053	8	454											
ACP2	53	broad.mit.edu	37	11	47261683	47261683	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:47261683C>T	ENST00000256997.3	-	11	1372	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	ACP2_ENST00000533929.1_Missense_Mutation_p.G391E|ACP2_ENST00000527256.1_Missense_Mutation_p.G387E|ACP2_ENST00000537863.1_Missense_Mutation_p.G232E|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000529444.1_Missense_Mutation_p.G356E	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	419					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GTGGTCCTCCCCATCTGCGAC	0.652																																					Melanoma(90;262 1440 11488 44828 48531)	ENST00000256997.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.(1255-1257)gGg>gAg	acid phosphatase 2, lysosomal						83	62	69					11																	47261683		2201	4298	6499	SO:0001583	missense	53				integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	g.chr11:47261683C>T	X15525	X15525	CCDS7928.1, CCDS44583.1	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			2008-02-05			ENSG00000134575	ENSG00000134575	ENSG00000134575	ENSG00000134575	3.1.3.2			123	123	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			171650	171650						975882	975882	Standard	Standard	NM_001610	NM_001610		Approved		uc001nei.3	uc001nei.3	P11117	P11117	OTTHUMG00000166949	OTTHUMG00000166949	ENST00000256997.3:c.1256G>A	11.37:g.47261683C>T	ENSP00000256997:p.Gly419Glu		ACP2_ENST00000533929.1_Missense_Mutation_p.G391E|ACP2_ENST00000529444.1_Missense_Mutation_p.G356E|ACP2_ENST00000537863.1_Missense_Mutation_p.G232E|ACP2_ENST00000527256.1_Missense_Mutation_p.G387E|ACP2_ENST00000525230.1_5'UTR	p.G419E	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN			11	1372	-			419		E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	c.1256G>A	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663225	0.47572	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000537863;ENST00000540414;ENST00000533929	T;T;T;T;T	0.10960	3.16;3.01;3.18;2.82;3.01	5.97	4.05	0.47172	5.97	4.05	0.47172	.	0.156132	0.56097	D	0.000025	T	0.06050	0.0157	N	0.08118	0	0.37141	D	0.901701	B;B;B;B	0.11235	0.003;0.003;0.003;0.004	B;B;B;B	0.13407	0.009;0.009;0.005;0.008	T	0.31503	-0.9941	10	0.30078	T	0.28	.	11.7446	0.51813	0.139:0.7276:0.1334:0.0	.	356;387;391;419	E9PHY0;B7Z7D2;E9PQY3;P11117	.;.;.;PPAL_HUMAN	E	419;356;387;232;409;391	ENSP00000256997:G419E;ENSP00000436658:G356E;ENSP00000432205:G387E;ENSP00000441933:G232E;ENSP00000432439:G391E	ENSP00000256997:G419E	G	-	2	0	0	ACP2	47218259	47218259	1.000000	0.71417	0.977000	0.42913	0.968000	0.65278	2.317000	0.43770	0.802000	0.34089	0.655000	0.94253	GGG		0.652	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2		6.814365	-7	-7	58	58	NM_001610		6	15.134153	15.134153	49	0.109091	0	0	0	1	0	6	49	0.109091	T	47261683	C	T	47261683	3	4	25	1	0	0	0	0	1	0	0	0	163	623	22	3	19	3	ACP2	11	47261683	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08	20536220	47261683	87744833	9	455											
SLCO2B1	11309	broad.mit.edu	37	11	74876892	74876892	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:74876892C>G	ENST00000289575.5	+	4	741	c.346C>G	c.(346-348)Cga>Gga	p.R116G	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R94G|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	116					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GCACCGACCCCGAATGATTGG	0.572																																						ENST00000289575.5											0			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(346-348)Cga>Gga	solute carrier organic anion transporter family, member 2B1						159	151	154					11																	74876892		2200	4293	6493	SO:0001583	missense	11309			sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74876892C>G	AB026256	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26	2013-05-22	2003-11-25	2003-11-26						"Solute carriers"	"Solute carriers"	10962	10962	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604988	604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9				Standard	Standard	NM_007256	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	uc001owb.3	O94956	O94956			ENST00000289575.5:c.346C>G	11.37:g.74876892C>G	ENSP00000289575:p.Arg116Gly		SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R94G|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR	p.R116G	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN			4	741	+			116		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.346C>G	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095852	0.56075	.	.	ENSG00000137491	ENST00000289575;ENST00000527180;ENST00000534186;ENST00000428359	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.24	4.24	0.50183	4.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	T	0.74943	0.3783	M	0.93507	3.425	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.82617	-0.0369	9	.	.	.	.	14.1582	0.65430	0.0:1.0:0.0:0.0	.	116	O94956	SO2B1_HUMAN	G	116;94;94;94	ENSP00000289575:R116G;ENSP00000436513:R94G;ENSP00000433872:R94G;ENSP00000388912:R94G	.	R	+	1	2	2	SLCO2B1	74554540	74554540	1.000000	0.71417	0.918000	0.36340	0.145000	0.21501	5.160000	0.64929	2.180000	0.69256	0.563000	0.77884	CGA		0.572	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1		-14.249385	-14	-14	147	147	NM_007256		9	17.765186	17.765186	147	0.057692	0	0	0	1	0	9	147	0.057692	G	74876892	C	G	74876892	3	3	25	1	0	0	0	0	1	0	0	0	14727	644	23	5	360	5	SLCO2B1	11	74876892	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08	27615209	74876892	60129624	10	456											
CNTN5	53942	broad.mit.edu	37	11	100141958	100141958	+	Missense_Mutation	SNP	C	C	T	rs370172429		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:100141958C>T	ENST00000524871.1	+	18	2589	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	767	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCGAATGATCCGCACAAATGA	0.443													C|||	1	0.000199681	8e-04	0	5008	,	,		16249	0		0	False		,,,				2504	0					ENST00000524871.1											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2299-2301)Cgc>Tgc	contactin 5	C	CYS/ARG,CYS/ARG	1,3835		0,1,1917	87	85	85		2299,2077	5.5	1	11		85	0,8262		0,0,4131	no	missense,missense	CNTN5	NM_014361.3,NM_175566.2	180,180	0,1,6048	TT,TC,CC		0.0,0.0261,0.0083	probably-damaging,probably-damaging	767/1101,693/1027	100141958	1,12097	1918	4131	6049	SO:0001583	missense	53942			cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100141958C>T	AB013802	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			2013-02-11			ENSG00000149972	ENSG00000149972	ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	2175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607219	607219								Standard	Standard	NM_014361	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	uc021qpb.1	O94779	O94779	OTTHUMG00000167579	OTTHUMG00000167579	ENST00000524871.1:c.2299C>T	11.37:g.100141958C>T	ENSP00000435637:p.Arg767Cys		CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C	p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	18	2589	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	767		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2299C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408139	0.62399	2.61E-4	0.0	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.51	5.51	0.81932	5.51	5.51	0.81932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80668	-0.1280	10	0.87932	D	0	.	12.1217	0.53895	0.2713:0.7287:0.0:0.0	.	693;767	O94779-2;O94779	.;CNTN5_HUMAN	C	767;767;767;693;767	ENSP00000433575:R767C;ENSP00000436185:R767C;ENSP00000435637:R767C;ENSP00000393229:R693C;ENSP00000279463:R767C	ENSP00000279463:R767C	R	+	1	0	0	CNTN5	99647168	99647168	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.394000	0.44450	2.590000	0.87494	0.467000	0.42956	CGC		0.443	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2		38.296185	11	11	35	35	NM_014361		12	38.484032	38.484032	17	0.413793	0	0	0	1	0	12	17	0.413793	T	100141958	C	T	100141958	3	4	25	1	0	0	0	0	1	0	0	0	3644	652	23	1	2361	1	CNTN5	11	100141958	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08	25265066	100141958	34864558	11	457											
POU2AF1	5450	ucsc.edu	37	11	111229639	111229639	+	Silent	SNP	T	T	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:111229639T>A	ENST00000393067.3	-	2	535	c.21A>T	c.(19-21)acA>acT	p.T7T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	7					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCTCCGGAGCTGTGGCTGTGA	0.627			T	BCL6	NHL																																			Dom	yes		11	11q23.1	5450	"POU domain, class 2, associating factor 1 (OBF1)"		L	0																	48	49	48					11																	111229639		2201	4297	6498	SO:0001819	synonymous_variant	5450									CCDS31675.1	CCDS31675.1	11q23.1	2011-06-01	2007-07-13		2011-06-01	2007-07-13			ENSG00000110777		ENSG00000110777				9211	9211	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601206	601206	"POU domain class 2, associating factor 1"		"POU domain class 2, associating factor 1"			8617501	8617501	Standard	Standard	NM_006235	NM_006235		Approved	OBF1	uc001plg.4	uc001plg.4	Q16633	Q16633			ENST00000393067.3:c.21A>T	11.37:g.111229639T>A																		B2R8Z9|Q14983	Silent	SNP	ENST00000393067.3	37		CCDS31675.1																																																																																									0.627	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1			-17	-17	33	33	NM_006235		4			31							4	31		A	111229639	T	A	111229639	2	1	25	1	0	0	0	0	0	0	0	1	12270	1567	55	5		5	POU2AF1	11	111229639	Silent	SNP	T	TCGA-V4-A9EW-01A-11D-A39W-08	11087681	111229639	23776877	12	458											
DCAF11	80344	broad.mit.edu	37	14	24589052	24589052	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr14:24589052C>T	ENST00000446197.3	+	11	1766	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	DCAF11_ENST00000396936.1_Missense_Mutation_p.P247S|DCAF11_ENST00000559115.1_Missense_Mutation_p.P347S|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.P321S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	347					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGACCCCAAGCCTGTGGGTGC	0.562																																						ENST00000446197.3											0										c.(1039-1041)Cct>Tct	DDB1 and CUL4 associated factor 11						57	48	51					14																	24589052		2203	4300	6503	SO:0001583	missense	0				CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24589052C>T	AF130070	AF130070	CCDS9610.1, CCDS41929.1	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	20258	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613317	613317	"WD repeat domain 23"	WDR23	"WD repeat domain 23"	WDR23				Standard	Standard	NM_025230	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	uc001wlv.3	Q8TEB1	Q8TEB1	OTTHUMG00000028793	OTTHUMG00000028793	ENST00000446197.3:c.1039C>T	14.37:g.24589052C>T	ENSP00000415556:p.Pro347Ser		DCAF11_ENST00000396941.4_Missense_Mutation_p.P321S|DCAF11_ENST00000396936.1_Missense_Mutation_p.P247S|DCAF11_ENST00000559115.1_Missense_Mutation_p.P347S	p.P347S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN			11	1766	+			347		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.1039C>T	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	31	5.077330	0.94000	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.61158	0.13;0.13	5.97	5.97	0.96955	5.97	5.97	0.96955	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	T	0.72550	0.3474	M	0.64676	1.99	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.999;0.926;0.999;1.0	D;D;P;D;D	0.73708	0.981;0.932;0.793;0.974;0.976	T	0.65376	-0.6183	10	0.21014	T	0.42	-14.0051	17.9218	0.88969	0.0:1.0:0.0:0.0	.	270;321;247;347;347	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	S	347;321;247;321	ENSP00000380142:P247S;ENSP00000380146:P321S	ENSP00000323680:P347S	P	+	1	0	0	DCAF11	23658892	23658892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.609000	0.74173	2.837000	0.97791	0.655000	0.94253	CCT		0.562	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		19.819725	3	3	26	26			7	19.935772	19.935772	10	0.411765	0	0	0	1	0	7	10	0.411765	T	24589052	C	T	24589052	3	4	25	1	0	0	0	0	1	0	0	0	4262	739	26	2	1077	2	DCAF11	14	24589052	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08		24589052	82760488	13	459											
ZFYVE19	84936	broad.mit.edu	37	15	41099958	41099958	+	Silent	SNP	A	A	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr15:41099958A>G	ENST00000355341.4	+	1	672	c.171A>G	c.(169-171)ccA>ccG	p.P57P	ZFYVE19_ENST00000299173.10_Silent_p.P57P|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000336455.5_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	57					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-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;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAAGGGGCCCAGGACTTGGCC	0.677																																						ENST00000355341.4											0			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(169-171)ccA>ccG	zinc finger, FYVE domain containing 19						33	43	40					15																	41099958		2032	4192	6224	SO:0001819	synonymous_variant	84936					zinc ion binding	g.chr15:41099958A>G	AK027746	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02			2008-05-02				ENSG00000166140		ENSG00000166140		"Zinc fingers, FYVE domain containing"	"Zinc fingers, FYVE domain containing"	20758	20758	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001077268	NM_001077268		Approved	FLJ14840	uc031qrk.1	uc031qrk.1	Q96K21	Q96K21			ENST00000355341.4:c.171A>G	15.37:g.41099958A>G			ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.P57P|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000336455.5_Intron	p.P57P	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	1	672	+		all_cancers(109;3.31e-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)	57		B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.171A>G	CCDS42025.1																																																																																									0.677	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1		27.041210	0	0	23	23	NM_032850		10	27.544911	27.544911	18	0.357143	0	0	0	1	0	10	18	0.357143	G	41099958	A	G	41099958	2	3	25	1	0	0	0	0	0	0	0	1	17662	175	7	4		4	ZFYVE19	15	41099958	Silent	SNP	A	TCGA-V4-A9EW-01A-11D-A39W-08		41099958	61431434	14	460											
LCAT	3931	broad.mit.edu	37	16	67976291	67976291	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr16:67976291G>A	ENST00000264005.5	-	5	752	c.723C>T	c.(721-723)atC>atT	p.I241I	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	241					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GCATGGGCTTGATGGAGCCAC	0.587																																						ENST00000264005.5											0			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16						c.(721-723)atC>atT	lecithin-cholesterol acyltransferase						49	54	53					16																	67976291		2198	4300	6498	SO:0001819	synonymous_variant	3931			cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67976291G>A			CCDS10854.1	CCDS10854.1	16q22.1	2012-10-02			2012-10-02			ENSG00000213398	ENSG00000213398	ENSG00000213398	ENSG00000213398	2.3.1.43			6522	6522	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606967	606967								Standard	Standard	NM_000229	NM_000229		Approved		uc002euy.1	uc002euy.1	P04180	P04180	OTTHUMG00000137551	OTTHUMG00000137551	ENST00000264005.5:c.723C>T	16.37:g.67976291G>A				p.I241I	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	5	752	-		Ovarian(137;0.0563)	241		Q53XQ3	Silent	SNP	ENST00000264005.5	37	c.723C>T	CCDS10854.1																																																																																									0.587	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3		6.780515	-16	-16	28	28			4	10.222445	10.222445	24	0.142857	0	0	0	1	0	4	24	0.142857	A	67976291	G	A	67976291	2	1	25	1	0	0	0	0	0	0	0	1	8658	1280	45	3		3	LCAT	16	67976291	Silent	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		67976291	22378462	15	461											
RUNDC1	146923	broad.mit.edu	37	17	41143307	41143307	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr17:41143307G>A	ENST00000361677.1	+	5	1428	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	472	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCATGCACCCGTGGGAGCTCT	0.577																																						ENST00000361677.1											0			breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(1414-1416)ccG>ccA	RUN domain containing 1						60	60	60					17																	41143307		2203	4300	6503	SO:0001819	synonymous_variant	146923						g.chr17:41143307G>A	AL831813	AL831813	CCDS11448.1	CCDS11448.1	17q21.31	2004-02-27			2004-02-27				ENSG00000198863		ENSG00000198863				25418	25418	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_173079	NM_173079		Approved	DKFZp761H0421	uc002ici.1	uc002ici.1	Q96C34	Q96C34			ENST00000361677.1:c.1416G>A	17.37:g.41143307G>A				p.P472P	NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1428	+		Breast(137;0.00499)	472	RUN.	Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	ENST00000361677.1	37	c.1416G>A	CCDS11448.1																																																																																									0.577	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1		22.783535	-9	-9	67	67	NM_173079		11	29.957548	29.957548	56	0.164179	0	0	0	1	0	11	56	0.164179	A	41143307	G	A	41143307	2	1	25	1	0	0	0	0	0	0	0	1	13742	1132	40	1		1	RUNDC1	17	41143307	Silent	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		41143307	40051903	16	462											
RPS9	6203	ucsc.edu	37	19	54705418	54705418	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr19:54705418G>A	ENST00000302907.4	+	3	333	c.161G>A	c.(160-162)cGc>cAc	p.R54H	RPS9_ENST00000441429.1_Missense_Mutation_p.R54H|RPS9_ENST00000402367.1_Missense_Mutation_p.R54H|RPS9_ENST00000391753.2_Missense_Mutation_p.R54H|RPS9_ENST00000391751.3_Missense_Mutation_p.R54H|AC012314.20_ENST00000426213.1_RNA|RPS9_ENST00000391752.1_Missense_Mutation_p.R54H	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	54					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		GCCAAGATCCGCAAGGCCGCC	0.612																																																	0																	36	34	35					19																	54705418		2203	4300	6503	SO:0001583	missense	6203							U14971	U14971	CCDS12884.1	CCDS12884.1	19q13.4	2011-04-05			2011-04-05			ENSG00000170889	ENSG00000170889	ENSG00000170889	ENSG00000170889		"S ribosomal proteins"	"S ribosomal proteins"	10442	10442	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"40S ribosomal protein S9"	"40S ribosomal protein S9"	603631	603631						7772601, 9582194	7772601, 9582194	Standard	Standard	XM_005259135	XM_005259135		Approved	S9	uc002qdx.3	uc002qdx.3	P46781	P46781	OTTHUMG00000066618	OTTHUMG00000066618	ENST00000302907.4:c.161G>A	19.37:g.54705418G>A	ENSP00000302896:p.Arg54His																	A9C4C1|Q4QRK7|Q9BVZ0	Missense_Mutation	SNP	ENST00000302907.4	37		CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362016	0.82353	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391751;ENST00000391753;ENST00000441429	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	4.33	4.33	0.51752	4.33	4.33	0.51752	Ribosomal protein S4/S9, N-terminal (1);	0.054323	0.85682	D	0.000000	T	0.79986	0.4541	H	0.98314	4.2	0.80722	D	1	D;D;B;P	0.59767	0.982;0.986;0.279;0.907	P;P;B;B	0.51833	0.681;0.561;0.103;0.408	D	0.88272	0.2930	10	0.66056	D	0.02	-20.45	15.1108	0.72355	0.0:0.0:1.0:0.0	.	54;54;54;54	B5MCT8;C9JM19;A8MXK4;P46781	.;.;.;RS9_HUMAN	H	54	ENSP00000302896:R54H;ENSP00000375632:R54H;ENSP00000383937:R54H;ENSP00000375631:R54H;ENSP00000375633:R54H;ENSP00000414314:R54H	ENSP00000302896:R54H	R	+	2	0	0	RPS9	59397230	59397230	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.874000	0.92363	2.356000	0.79943	0.462000	0.41574	CGC		0.612	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3			-2	-2	27	27	NM_001013		4			23							4	23		A	54705418	G	A	54705418	3	1	25	1	0	0	0	0	1	0	0	0	13662	1087	38	1	167	1	RPS9	19	54705418	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		54705418	4423565	17	463											
MAOB	4129	broad.mit.edu	37	X	43703012	43703012	+	Splice_Site	SNP	T	T	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chrX:43703012T>A	ENST00000378069.4	-	2	194		c.e2-2		MAOB_ENST00000487544.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site|MAOB_ENST00000536181.1_Splice_Site	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B						negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	CTGCCATACCTGGGAGAAAAG	0.502																																						ENST00000378069.4											0			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.e2-2	monoamine oxidase B						67	55	59					X																	43703012		2203	4300	6503	SO:0001630	splice_region_variant	4129			xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43703012T>A			CCDS14261.1	CCDS14261.1	Xp11.4-p11.3	2008-02-05			2008-02-05			ENSG00000069535	ENSG00000069535	ENSG00000069535	ENSG00000069535	1.4.3.4			6834	6834	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			309860	309860								Standard	Standard	NM_000898	NM_000898		Approved		uc004dfz.4	uc004dfz.4	P27338	P27338	OTTHUMG00000021388	OTTHUMG00000021388	ENST00000378069.4:c.47-2A>T	X.37:g.43703012T>A			MAOB_ENST00000487544.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site|MAOB_ENST00000536181.1_Splice_Site		NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN			2	194	-					B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Splice_Site	SNP	ENST00000378069.4	37		CCDS14261.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490090	0.84962	.	.	ENSG00000069535	ENST00000378069	.	.	.	5.54	5.54	0.83059	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7115	0.69235	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MAOB	43587956	43587956	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.579000	0.67457	1.855000	0.53841	0.486000	0.48141	.		0.502	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1		24.489050	14	14	72	72	NM_000898	Intron	11	29.924941	29.924941	48	0.186441	0	0	0	1	0	11	48	0.186441	A	43703012	T	A	43703012	5	1	25	1	0	0	0	0	0	0	1	0	9226	1594	55	5	1573	5	MAOB	23	43703012	Splice_Site	SNP	T	TCGA-V4-A9EW-01A-11D-A39W-08		43703012	111567548	18	464											
G6PD	2539	broad.mit.edu	37	X	153761236	153761236	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chrX:153761236G>A	ENST00000393564.2	-	9	1084	c.972C>T	c.(970-972)gaC>gaT	p.D324D	G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Silent_p.D370D|G6PD_ENST00000393562.2_Silent_p.D354D	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	324					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.D354D(1)|p.D324D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGTGGGGTCGTCCAGGTACC	0.617																																						ENST00000393562.2											2	Substitution - coding silent(2)	endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(1060-1062)gaC>gaT	glucose-6-phosphate dehydrogenase						81	65	71					X																	153761236		2203	4300	6503	SO:0001819	synonymous_variant	2539			cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153761236G>A	X03674	X03674	CCDS14756.2, CCDS44023.1	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			2014-09-17			ENSG00000160211	ENSG00000160211	ENSG00000160211	ENSG00000160211	1.1.1.49			4057	4057	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			305900	305900						3012556, 2428611	3012556, 2428611	Standard	Standard	NM_000402	NM_000402		Approved	G6PD1	uc004flx.1	uc004flx.1	P11413	P11413	OTTHUMG00000024237	OTTHUMG00000024237	ENST00000393564.2:c.972C>T	X.37:g.153761236G>A			G6PD_ENST00000393564.2_Silent_p.D324D|G6PD_ENST00000369620.2_Silent_p.D370D	p.D354D	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			9	1445	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		324		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.1062C>T	CCDS44023.1																																																																																									0.617	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3		-11.843682	-11	-11	93	93	NM_000402		4	6.994016	6.994016	82	0.046512	0	0	0	1	0	4	82	0.046512	A	153761236	G	A	153761236	2	1	25	1	0	0	0	0	0	0	0	1	6146	1136	40	1		1	G6PD	23	153761236	Silent	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08	110058224	153761236	1509324	19	465											
AIM1L	55057	broad.mit.edu	37	1	26655240	26655240	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr1:26655240C>T	ENST00000308182.5	-	15	1733	c.1304G>A	c.(1303-1305)cGg>cAg	p.R435Q	AIM1L_ENST00000527815.1_Missense_Mutation_p.R606Q			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	435	Beta/gamma crystallin 'Greek key' 9. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCCCTTGATCCGCACAGACAG	0.617																																						ENST00000527815.1											0			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(1816-1818)cGg>cAg	absent in melanoma 1-like						153	129	137					1																	26655240		2203	4300	6503	SO:0001583	missense	55057					sugar binding	g.chr1:26655240C>T					1p35	2010-07-14			2010-07-14			ENSG00000176092	ENSG00000176092	ENSG00000176092	ENSG00000176092				17295	17295	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"	"beta-gamma crystallin domain containing 2"										Standard	Standard	NM_001039775	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	uc001bmd.4	Q8N1P7	Q8N1P7	OTTHUMG00000003490	OTTHUMG00000003490	ENST00000308182.5:c.1304G>A	1.37:g.26655240C>T	ENSP00000310435:p.Arg435Gln		AIM1L_ENST00000308182.5_Missense_Mutation_p.R435Q	p.R606Q	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	15	1866	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	435	Ricin B-type lectin.	B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.1817G>A		.	.	.	.	.	.	.	.	.	.	C	9.021	0.984904	0.18889	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.77489	-1.1;-1.1	5.03	1.05	0.20165	5.03	1.05	0.20165	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.354241	0.30791	N	0.008866	T	0.63792	0.2541	L	0.46947	1.48	0.80722	D	1	B	0.13594	0.008	B	0.12837	0.008	T	0.52533	-0.8563	10	0.05833	T	0.94	.	9.9776	0.41793	0.0:0.7148:0.0:0.2852	.	435	Q8N1P7	AIM1L_HUMAN	Q	606;435	ENSP00000433931:R606Q;ENSP00000310435:R435Q	ENSP00000310435:R435Q	R	-	2	0	0	AIM1L	26527827	26527827	0.854000	0.29725	0.999000	0.59377	0.711000	0.40976	1.418000	0.34782	0.316000	0.23135	-0.258000	0.10820	CGG		0.617	AIM1L-201	KNOWN	basic	protein_coding	protein_coding			89.225668	-12	-12	97	97	NM_001039775.2		30	91.192938	91.192938	58	0.340909	0	0	0	1	0	30	58	0.340909	T	26655240	C	T	26655240	3	4	26	1	0	0	0	0	1	0	0	0	431	652	23	1	566	1	AIM1L	1	26655240	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08		26655240	222595381	1	466											
PDE4DIP	9659	broad.mit.edu	37	1	144856945	144856945	+	Silent	SNP	G	G	A			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr1:144856945G>A	ENST00000369354.3	-	40	6729	c.6540C>T	c.(6538-6540)gtC>gtT	p.V2180V	PDE4DIP_ENST00000369356.4_Silent_p.V2180V|PDE4DIP_ENST00000313382.9_Silent_p.V2074V|PDE4DIP_ENST00000369359.4_Silent_p.V2316V|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.V2265V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2180					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)		TGTGGCCAATGACATGGCGGC	0.512			T	PDGFRB	MPD																																	ENST00000369359.4		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0			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						c.(6946-6948)gtC>gtT	phosphodiesterase 4D interacting protein						47	46	46					1																	144856945		2202	4292	6494	SO:0001819	synonymous_variant	9659			cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144856945G>A	AB007923, AB007946	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	ENSG00000178104	ENSG00000178104				15580	15580	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"myomegalin"	"myomegalin"	608117	608117	"cardiomyopathy associated 2"	CMYA2	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	9455484, 11134006	Standard	Standard	NM_022359	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	uc021ouh.1	Q5VU43	Q5VU43	OTTHUMG00000013846	OTTHUMG00000013846	ENST00000369354.3:c.6540C>T	1.37:g.144856945G>A			PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.V2265V|PDE4DIP_ENST00000369354.3_Silent_p.V2180V|PDE4DIP_ENST00000369356.4_Silent_p.V2180V|PDE4DIP_ENST00000313382.9_Silent_p.V2074V	p.V2316V			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	43	6986	-			2180		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6948C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	10.45	1.354175	0.24512	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.48	-2.2	0.06994	4.48	-2.2	0.06994	.	.	.	.	.	T	0.32823	0.0842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35076	-0.9803	4	.	.	.	.	5.6072	0.17387	0.0861:0.4289:0.3666:0.1185	.	.	.	.	L	257	.	.	S	-	2	0	0	PDE4DIP	143568302	143568302	0.976000	0.34144	0.985000	0.45067	0.975000	0.68041	-0.034000	0.12225	-0.122000	0.11766	0.449000	0.29647	TCA		0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		51.534355	-6	-6	74	74	NM_022359		21	55.619767	55.619767	59	0.2625	0	0	0	1	0	21	59	0.2625	A	144856945	G	A	144856945	2	1	26	1	0	0	0	0	0	0	0	1	11643	1277	45	3		3	PDE4DIP	1	144856945	Silent	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08	118201705	144856945	104393676	2	467											
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	rs201025925		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	8e-04	0	5008	,	,		22400	0		0	False		,,,				2504	0					ENST00000316073.3											0			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt	repetin						597	514	540					1																	152128689		1568	3582	5150	SO:0001583	missense	126638				proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	AK096436	CCDS41397.1	CCDS41397.1	1q21.3	2013-01-10			2013-01-10			ENSG00000215853	ENSG00000215853	ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	"EF-hand domain containing"	26809	26809	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613259	613259						15854042	15854042	Standard	Standard	NM_001122965	NM_001122965		Approved	FLJ39117	uc001ezs.1	uc001ezs.1	Q6XPR3	Q6XPR3	OTTHUMG00000154095	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser			p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296	Gln-rich.	B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	0	RPTN	150395313	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1		-83.795869	-97	-97	454	454	XM_371312		4	6.426938	6.426938	327	0.012085	0	0	0	1	0	4	327	0.012085	T	152128689	C	T	152128689	3	4	26	1	0	0	0	0	1	0	0	0	13664	652	23	1	1472	1	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08	7271744	152128689	97121932	3	468											
SSFA2	6744	broad.mit.edu	37	2	182786871	182786871	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr2:182786871G>A	ENST00000431877.2	+	16	3586	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	SSFA2_ENST00000409136.1_Missense_Mutation_p.G645D|SSFA2_ENST00000320370.7_Missense_Mutation_p.G1136D|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000428267.2_Missense_Mutation_p.G961D|SSFA2_ENST00000409001.1_Missense_Mutation_p.G1114D	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1136						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCCTCAGTGGGCAAATCCAAA	0.478																																						ENST00000431877.2											0			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(3406-3408)gGc>gAc	sperm specific antigen 2						118	122	121					2																	182786871		2203	4300	6503	SO:0001583	missense	6744				cytoplasm|plasma membrane	actin binding	g.chr2:182786871G>A	M61199	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			2012-02-01			ENSG00000138434	ENSG00000138434	ENSG00000138434	ENSG00000138434				11319	11319	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990	118990						1555770	1555770	Standard	Standard	XM_005246812	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	uc002uoh.3	P28290	P28290	OTTHUMG00000132584	OTTHUMG00000132584	ENST00000431877.2:c.3407G>A	2.37:g.182786871G>A	ENSP00000388731:p.Gly1136Asp		SSFA2_ENST00000409136.1_Missense_Mutation_p.G645D|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Missense_Mutation_p.G1114D|SSFA2_ENST00000428267.2_Missense_Mutation_p.G961D|SSFA2_ENST00000320370.7_Missense_Mutation_p.G1136D	p.G1136D	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		16	3586	+			1136		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.3407G>A	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477171	0.26511	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136;ENST00000451836	T;T;T;T;T	0.15603	2.65;2.41;2.59;2.6;2.46	5.95	0.965	0.19661	5.95	0.965	0.19661	.	0.984794	0.08352	N	0.959120	T	0.17916	0.0430	L	0.55103	1.725	0.09310	N	1	P;P;P;P;P	0.49185	0.92;0.92;0.649;0.649;0.775	P;P;B;B;B	0.48030	0.564;0.564;0.344;0.344;0.344	T	0.14504	-1.0470	10	0.27082	T	0.32	0.6002	0.9245	0.01321	0.264:0.117:0.3785:0.2406	.	961;645;1114;1136;1136	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	D	1136;1136;1114;961;645;81	ENSP00000388731:G1136D;ENSP00000314669:G1136D;ENSP00000387319:G1114D;ENSP00000409867:G961D;ENSP00000386916:G645D	ENSP00000314669:G1136D	G	+	2	0	0	SSFA2	182495116	182495116	0.950000	0.32346	0.012000	0.15200	0.409000	0.31022	1.168000	0.31859	-0.095000	0.12351	-0.253000	0.11424	GGC		0.478	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2		-17.531433	-10	-10	82	82	NM_006751		4	7.771451	7.771451	105	0.036697	0	0	0	1	0	4	105	0.036697	A	182786871	G	A	182786871	3	1	26	1	0	0	0	0	1	0	0	0	15182	1203	42	2	3469	2	SSFA2	2	182786871	Missense_Mutation	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		182786871	60412502	4	469											
ATG9A	79065	hgsc.bcm.edu	37	2	220086024	220086024	+	Splice_Site	SNP	G	G	C			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr2:220086024G>C	ENST00000409618.1	-	14	2585	c.2146C>G	c.(2146-2148)Ctc>Gtc	p.L716V	ATG9A_ENST00000409422.1_Splice_Site_p.L655V|ABCB6_ENST00000439002.2_5'Flank|ABCB6_ENST00000265316.3_5'Flank|ATG9A_ENST00000396761.2_Splice_Site_p.L716V|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Splice_Site_p.L716V			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	716					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTTGTGGAGCTGGAGAAAT	0.602																																																	0																	11	12	12					2																	220086024		1985	4155	6140	SO:0001630	splice_region_variant	79065							AK021732	AK021732	CCDS42820.1	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925	ENSG00000198925	ENSG00000198925				22408	22408	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612204	612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1				Standard	Standard	NM_024085	NM_024085		Approved	FLJ22169	uc002vkf.1	uc002vkf.1	Q7Z3C6	Q7Z3C6	OTTHUMG00000154557	OTTHUMG00000154557	ENST00000409618.1:c.2146-1C>G	2.37:g.220086024G>C																		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37		CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870543	0.33069	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.53857	1.0;1.0;1.0;0.6	5.3	4.35	0.52113	5.3	4.35	0.52113	.	0.142087	0.47093	D	0.000253	T	0.34745	0.0908	L	0.42686	1.345	0.43457	D	0.995656	P	0.37955	0.612	B	0.32533	0.147	T	0.11867	-1.0570	10	0.22109	T	0.4	-16.7292	4.3548	0.11172	0.2818:0.0:0.7182:0.0	.	716	Q7Z3C6	ATG9A_HUMAN	V	716;716;716;655	ENSP00000379983:L716V;ENSP00000386710:L716V;ENSP00000355173:L716V;ENSP00000386535:L655V	ENSP00000355173:L716V	L	-	1	0	0	ATG9A	219794268	219794268	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.397000	0.34543	2.757000	0.94681	0.591000	0.81541	CTC		0.602	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1			1	1	18	18	NM_024085	Missense_Mutation	5			12							5	12		C	220086024	G	C	220086024	5	2	26	1	0	0	0	0	0	0	1	0	1102	985	34	5	385	5	ATG9A	2	220086024	Splice_Site	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08	37299153	220086024	23113349	5	470											
PTPN23	25930	broad.mit.edu	37	3	47454066	47454066	+	Silent	SNP	T	T	C			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr3:47454066T>C	ENST00000265562.4	+	24	4457	c.4380T>C	c.(4378-4380)caT>caC	p.H1460H	PTPN23_ENST00000431726.1_Silent_p.H1334H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1460					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)		TGCAGCGCCATGGTGTGCCTC	0.612																																						ENST00000265562.4											0			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4378-4380)caT>caC	protein tyrosine phosphatase, non-receptor type 23						99	90	93					3																	47454066		2203	4300	6503	SO:0001819	synonymous_variant	25930			cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47454066T>C	AB025194	AB025194	CCDS2754.1	CCDS2754.1	3p21.3	2011-06-09			2011-06-09			ENSG00000076201	ENSG00000076201	ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	14406	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606584	606584						11095967	11095967	Standard	Standard	NM_015466	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	uc003crf.1	Q9H3S7	Q9H3S7	OTTHUMG00000133520	OTTHUMG00000133520	ENST00000265562.4:c.4380T>C	3.37:g.47454066T>C			PTPN23_ENST00000431726.1_Silent_p.H1334H	p.H1460H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	24	4457	+			1460		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.4380T>C	CCDS2754.1																																																																																									0.612	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2		33.155504	8	8	54	54	NM_015466		10	34.018621	34.018621	3	0.769231	0	0	0	1	0	10	3	0.769231	C	47454066	T	C	47454066	2	2	26	1	0	0	0	0	0	0	0	1	12788	1461	51	4		4	PTPN23	3	47454066	Silent	SNP	T	TCGA-V4-A9EX-01A-11D-A39W-08		47454066	150568364	6	471											
BAP1	51533	broad.mit.edu	37	3	52443574	52443574	+	5'Flank	SNP	G	G	A			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr3:52443574G>A	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q40*|BAP1_ENST00000460680.1_Nonsense_Mutation_p.Q40*|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.Q40*(2)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACTCACCCCTGACATTTGCTC	0.582																																						ENST00000460680.1											2	Substitution - Nonsense(2)	kidney(1)|pleura(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(118-120)Cag>Tag	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						218	228	224					3																	52443574		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52443574G>A	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"Zinc fingers, PHD-type"		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52443574G>A	Exception_encountered		BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q40*	p.Q40*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	3	589	-			40		K4DI82	Nonsense_Mutation	SNP	ENST00000327906.3	37	c.118C>T	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352033	0.95830	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	4.97	4.97	0.65823	4.97	4.97	0.65823	.	0.114511	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.2399	0.89963	0.0:0.0:1.0:0.0	.	.	.	.	X	40	.	ENSP00000296288:Q40X	Q	-	1	0	0	BAP1	52418614	52418614	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.607000	0.82883	2.312000	0.78011	0.655000	0.94253	CAG		0.582	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		277.919426	-46	-46	233	233	NM_016483		85	287.318056	287.318056	20	0.809524	0	0	0	1	0	85	20	0.809524	A	52443574	G	A	52443574	1	1	26	0	1	0	0	0	0	0	0	0	1311	1299	45	3		3	BAP1	3	52443574	5'Flank	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08	4989508	52443574	145578856	7	472											
C6orf192	116843	broad.mit.edu	37	6	133105166	133105166	+	Silent	SNP	C	C	T			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr6:133105166C>T	ENST00000275227.4	-	6	660	c.564G>A	c.(562-564)ttG>ttA	p.L188L	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Silent_p.L62L	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	188					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											AGGATTGATACAAAAAGCCAC	0.368																																						ENST00000275227.4											0										c.(562-564)ttG>ttA	solute carrier family 18, subfamily B, member 1						111	115	114					6																	133105166		2203	4300	6503	SO:0001819	synonymous_variant	116843			transmembrane transport	integral to membrane		g.chr6:133105166C>T	AK124442	AK124442	CCDS5163.1	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409	ENSG00000146409	ENSG00000146409		"Solute carriers"	"Solute carriers"	21573	21573	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613361	613361	"chromosome 6 open reading frame 192"	C6orf192	"chromosome 6 open reading frame 192"	C6orf192		19697161	19697161	Standard	Standard	XM_006715328	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	uc003qdw.1	Q6NT16	Q6NT16	OTTHUMG00000015595	OTTHUMG00000015595	ENST00000275227.4:c.564G>A	6.37:g.133105166C>T			SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Silent_p.L62L	p.L188L	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN			6	660	-			188		A8K1K3|B3KW77|Q6ISF2	Silent	SNP	ENST00000275227.4	37	c.564G>A	CCDS5163.1																																																																																									0.368	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1		27.433068	-14	-14	94	94	NM_052831		13	33.495437	33.495437	55	0.191176	0	0	0	1	0	13	55	0.191176	T	133105166	C	T	133105166	2	4	26	1	0	0	0	0	0	0	0	1	2349	477	17	3		3	C6orf192	6	133105166	Silent	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08		133105166	38009901	8	473											
KIAA1244	57221	broad.mit.edu	37	6	138608050	138608050	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr6:138608050C>G	ENST00000251691.4	+	16	2948	c.2782C>G	c.(2782-2784)Cta>Gta	p.L928V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAGCTGCGCTCTAGGTACCAG	0.622																																						ENST00000251691.4											0			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2782-2784)Cta>Gta	KIAA1244						33	31	32					6																	138608050		2203	4300	6503	SO:0001583	missense	57221			regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138608050C>G	AB033070	AB033070	CCDS5189.2	CCDS5189.2	6q23.3	2012-04-17			2012-04-17			ENSG00000112379	ENSG00000112379	ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	21213	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"	"protein phosphatase 1, regulatory subunit 33"			"chromosome 6 open reading frame 92"	C6orf92	"chromosome 6 open reading frame 92"	C6orf92				Standard	Standard	NM_020340	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	uc003qhu.3	Q5TH69	Q5TH69	OTTHUMG00000015670	OTTHUMG00000015670	ENST00000251691.4:c.2782C>G	6.37:g.138608050C>G	ENSP00000251691:p.Leu928Val			p.L928V	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	16	2948	+	Breast(32;0.135)		928			Missense_Mutation	SNP	ENST00000251691.4	37	c.2782C>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429550	0.62844	.	.	ENSG00000112379	ENST00000251691	T	0.57273	0.41	5.25	4.31	0.51392	5.25	4.31	0.51392	.	0.068008	0.64402	D	0.000018	T	0.64216	0.2578	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.66689	-0.5860	10	0.72032	D	0.01	-11.2175	11.8879	0.52613	0.0:0.8647:0.0:0.1353	.	928	Q5TH69	BIG3_HUMAN	V	928	ENSP00000251691:L928V	ENSP00000251691:L928V	L	+	1	2	2	KIAA1244	138649743	138649743	0.953000	0.32496	0.978000	0.43139	0.744000	0.42396	2.136000	0.42121	2.738000	0.93877	0.655000	0.94253	CTA		0.622	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		12.497831	0	0	26	26	NM_020340		4	12.585346	12.585346	6	0.4	0	0	0	1	0	4	6	0.4	G	138608050	C	G	138608050	3	3	26	1	0	0	0	0	1	0	0	0	8217	912	32	5	2844	5	KIAA1244	6	138608050	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08	5502884	138608050	32507017	9	474											
SBDS	51119	broad.mit.edu	37	7	66456163	66456163	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr7:66456163C>A	ENST00000246868.2	-	4	768	c.585G>T	c.(583-585)aaG>aaT	p.K195N		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	195					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TTTCTATGACCTTGATCAGTG	0.363			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																													ENST00000246868.2	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(583-585)aaG>aaT	Shwachman-Bodian-Diamond syndrome						162	134	144					7																	66456163		2203	4300	6503	SO:0001583	missense	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66456163C>A	AF151855	AF151855	CCDS5537.1	CCDS5537.1	7q11.22	2014-09-17			2014-09-17			ENSG00000126524	ENSG00000126524	ENSG00000126524	ENSG00000126524				19440	19440	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607444	607444						12496757	12496757	Standard	Standard	NM_016038	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	uc003tvm.1	Q9Y3A5	Q9Y3A5	OTTHUMG00000023165	OTTHUMG00000023165	ENST00000246868.2:c.585G>T	7.37:g.66456163C>A	ENSP00000246868:p.Lys195Asn			p.K195N	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN			4	768	-			195		A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	ENST00000246868.2	37	c.585G>T	CCDS5537.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232682	0.39498	.	.	ENSG00000126524	ENST00000246868	D	0.96073	-3.9	5.04	5.04	0.67666	5.04	5.04	0.67666	Ribosome maturation protein SBDS, C-terminal (1);	0.042740	0.85682	D	0.000000	D	0.92708	0.7682	L	0.47716	1.5	0.80722	D	1	B	0.11235	0.004	B	0.19946	0.027	D	0.88911	0.3359	10	0.17832	T	0.49	-17.7777	15.9306	0.79656	0.0:1.0:0.0:0.0	.	195	Q9Y3A5	SBDS_HUMAN	N	195	ENSP00000246868:K195N	ENSP00000246868:K195N	K	-	3	2	2	SBDS	66093598	66093598	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.258000	0.51507	2.641000	0.89580	0.555000	0.69702	AAG		0.363	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2		-7.129469	-10	-10	93	93	NM_016038		3	6.318062	6.318062	59	0.048387	1	0	1	1	1	3	59	0.048387	A	66456163	C	A	66456163	3	1	26	1	0	0	0	0	1	0	0	0	13857	680	24	5	175	5	SBDS	7	66456163	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08		66456163	92682500	10	475											
GLIS3	169792	broad.mit.edu	37	9	3856041	3856041	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr9:3856041G>A	ENST00000324333.10	-	8	2169	c.1976C>T	c.(1975-1977)tCt>tTt	p.S659F	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S814F	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	659					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGAAAAGAAGAGTTTGTTTC	0.443																																						ENST00000324333.10											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1975-1977)tCt>tTt	GLIS family zinc finger 3						151	146	147					9																	3856041		2203	4300	6503	SO:0001583	missense	169792			negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3856041G>A	BC033899	BC033899	CCDS6451.1, CCDS43784.1	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	28510	28510	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610192	610192	"zinc finger protein 515"	ZNF515	"zinc finger protein 515"	ZNF515		14500813	14500813	Standard	Standard	NM_152629	NM_152629		Approved	MGC33662	uc003zhx.1	uc003zhx.1	Q8NEA6	Q8NEA6	OTTHUMG00000019463	OTTHUMG00000019463	ENST00000324333.10:c.1976C>T	9.37:g.3856041G>A	ENSP00000325494:p.Ser659Phe		GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S814F	p.S659F	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	8	2169	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	659		B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1976C>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	g	19.98	3.926811	0.73327	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11930	2.74;2.73	5.8	4.9	0.64082	5.8	4.9	0.64082	.	0.245141	0.27946	N	0.017218	T	0.20047	0.0482	L	0.27053	0.805	0.24718	N	0.993167	D;P;D;P	0.59767	0.974;0.894;0.986;0.956	P;B;P;P	0.54100	0.66;0.365;0.742;0.459	T	0.04855	-1.0922	10	0.72032	D	0.01	.	16.952	0.86248	0.0:0.1277:0.8723:0.0	.	254;327;814;659	Q59FQ6;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	F	659;814	ENSP00000325494:S659F;ENSP00000371398:S814F	ENSP00000325494:S659F	S	-	2	0	0	GLIS3	3846041	3846041	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.066000	0.57520	1.454000	0.47793	0.561000	0.74099	TCT		0.443	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1		145.945991	2	2	93	93	NM_152629		46	145.948368	145.948368	47	0.494624	0	0	0	1	0	46	47	0.494624	A	3856041	G	A	3856041	3	1	26	1	0	0	0	0	1	0	0	0	6447	942	33	3	363	3	GLIS3	9	3856041	Missense_Mutation	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		3856041	137357390	11	476											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		99.843706	-8	-8	104	104	NM_002072		30	100.048327	100.048327	38	0.441176	0	0	0	1	0	30	38	0.441176	G	80409488	T	G	80409488	3	3	26	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EX-01A-11D-A39W-08	76553447	80409488	60803943	12	477											
OR56A3	390083	broad.mit.edu	37	11	5968660	5968660	+	Silent	SNP	G	G	A			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr11:5968660G>A	ENST00000329564.6	+	1	91	c.84G>A	c.(82-84)caG>caA	p.Q28Q	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGCTGGCAGCACTGGCTGT	0.537																																						ENST00000329564.6											0			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(82-84)caG>caA	olfactory receptor, family 56, subfamily A, member 3						91	97	95					11																	5968660		2200	4296	6496	SO:0001819	synonymous_variant	390083			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968660G>A			CCDS41614.1	CCDS41614.1	11p15.4	2012-08-09		2004-03-10	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	14786	14786	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						OR56A6, OR56A3P		OR56A6, OR56A3P				Standard	Standard	NM_001003443	NM_001003443		Approved		uc010qzt.2	uc010qzt.2	Q8NH54	Q8NH54	OTTHUMG00000165373	OTTHUMG00000165373	ENST00000329564.6:c.84G>A	11.37:g.5968660G>A				p.Q28Q	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	91	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	28		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.84G>A	CCDS41614.1																																																																																									0.537	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1		-3.417803	22	22	77	77	NM_001003443		3	6.705186	6.705186	47	0.06	0	0	0	1	0	3	47	0.06	A	5968660	G	A	5968660	2	1	26	1	0	0	0	0	0	0	0	1	11134	962	34	2		2	OR56A3	11	5968660	Silent	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		5968660	129037856	13	478											
TNFRSF1A	7132	broad.mit.edu	37	12	6439098	6439098	+	Silent	SNP	G	G	A			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr12:6439098G>A	ENST00000162749.2	-	9	1202	c.903C>T	c.(901-903)ccC>ccT	p.P301P	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Silent_p.P258P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	301					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GACAGTCACCGGGGGTATAGG	0.652																																						ENST00000162749.2											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(901-903)ccC>ccT	tumor necrosis factor receptor superfamily, member 1A						27	29	28					12																	6439098		2194	4268	6462	SO:0001819	synonymous_variant	7132			apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6439098G>A	M75866	M75866	CCDS8542.1	CCDS8542.1	12p13.2	2014-09-17			2014-09-17			ENSG00000067182	ENSG00000067182	ENSG00000067182	ENSG00000067182		"Tumor necrosis factor receptor superfamily", "CD molecules"	"Tumor necrosis factor receptor superfamily", "CD molecules"	11916	11916	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			191190	191190		TNFR1		TNFR1		1655358, 2158863	1655358, 2158863	Standard	Standard	NM_001065	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	uc001qnu.3	P19438	P19438	OTTHUMG00000168267	OTTHUMG00000168267	ENST00000162749.2:c.903C>T	12.37:g.6439098G>A			TNFRSF1A_ENST00000540022.1_Silent_p.P258P	p.P301P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			9	1202	-			301		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.903C>T	CCDS8542.1																																																																																									0.652	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1		16.576834	1	1	10	10	NM_001065		5	16.686552	16.686552	3	0.625	0	0	0	1	0	5	3	0.625	A	6439098	G	A	6439098	2	1	26	1	0	0	0	0	0	0	0	1	16290	1103	39	1		1	TNFRSF1A	12	6439098	Silent	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		6439098	127412797	14	479											
C12orf35	55196	broad.mit.edu	37	12	32137648	32137648	+	Silent	SNP	C	C	T	rs150095870		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr12:32137648C>T	ENST00000312561.4	+	4	4173	c.3759C>T	c.(3757-3759)gaC>gaT	p.D1253D	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1253																	AACTACAAGACGACAGTAGAA	0.353																																						ENST00000312561.4											0										c.(3757-3759)gaC>gaT	KIAA1551	C		0,4406		0,0,2203	56	54	55		3759	-2.5	0	12	dbSNP_134	55	1,8597	2.2+/-6.3	0,1,4298	no	coding-synonymous	C12orf35	NM_018169.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1253/1748	32137648	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	55196						g.chr12:32137648C>T	AK001514	AK001514	CCDS8725.2	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718	ENSG00000174718	ENSG00000174718				25559	25559	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 12 open reading frame 35"	C12orf35	"chromosome 12 open reading frame 35"	C12orf35		10997877	10997877	Standard	Standard	NM_018169	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	uc001rks.3	Q9HCM1	Q9HCM1	OTTHUMG00000128501	OTTHUMG00000128501	ENST00000312561.4:c.3759C>T	12.37:g.32137648C>T			KIAA1551_ENST00000535596.1_Intron	p.D1253D	NM_018169.3	NP_060639					4	4173	+					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.3759C>T	CCDS8725.2																																																																																									0.353	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2		75.591357	12	12	53	53	NM_018169		24	76.196237	76.196237	37	0.393443	0	0	0	1	0	24	37	0.393443	T	32137648	C	T	32137648	2	4	26	1	0	0	0	0	0	0	0	1	1682	535	19	1		1	C12orf35	12	32137648	Silent	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08	25698550	32137648	101714247	15	480											
DMXL2	23312	broad.mit.edu	37	15	51791218	51791219	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr15:51791218_51791219insA	ENST00000251076.5	-	18	4489_4490	c.4202_4203insT	c.(4201-4203)gtafs	p.V1401fs	DMXL2_ENST00000543779.2_Frame_Shift_Ins_p.V1401fs|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1401						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)		TACTGCCACTTACACTAATAGT	0.406																																						ENST00000251076.5											0			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						c.(4201-4203)gtafs	Dmx-like 2																																			SO:0001589	frameshift_variant	23312				cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791218_51791219insA	AB020663	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			2013-01-10			ENSG00000104093	ENSG00000104093	ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	"WD repeat domain containing"	2938	2938	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"rabconnectin 3"	"rabconnectin 3"	612186	612186								Standard	Standard	NM_001174116	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	uc010ufy.2	Q8TDJ6	Q8TDJ6	OTTHUMG00000131749	OTTHUMG00000131749	ENST00000251076.5:c.4203dupT	15.37:g.51791219_51791219dupA	ENSP00000251076:p.Val1401fs		DMXL2_ENST00000543779.2_Frame_Shift_Ins_p.V1401fs|DMXL2_ENST00000449909.3_Intron	p.V1401fs	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	4489_4490	-			1401		B2RTR3|B7ZMH3|F5GWF1|O94938	Frame_Shift_Ins	INS	ENST00000251076.5	37	c.4202_4203insT	CCDS10141.1																																																																																									0.406	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	.	.	-32	-32	178	178	NM_015263		79			114	0.41						79	114	0.41	A	51791219	-	A	51791218	7	5	26	1	0	1	1	0	0	0	0	0	4595	1741	61	0	5014	0	DMXL2	15	51791218	Frame_Shift_Ins	INS	-	TCGA-V4-A9EX-01A-11D-A39W-08		51791218	50740174	16	481											
NFATC2	4773	broad.mit.edu	37	20	50090554	50090554	+	Silent	SNP	G	G	T			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	g.chr20:50090554G>T	ENST00000396009.3	-	5	1890	c.1671C>A	c.(1669-1671)atC>atA	p.I557I	NFATC2_ENST00000609943.1_Silent_p.I537I|NFATC2_ENST00000610033.1_Silent_p.I338I|NFATC2_ENST00000414705.1_Silent_p.I537I|NFATC2_ENST00000609507.1_Silent_p.I338I|NFATC2_ENST00000371564.3_Silent_p.I557I	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	557	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTAAAGAGACGATTCTGCCAC	0.567																																						ENST00000371564.3											0			breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1669-1671)atC>atA	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						141	113	122					20																	50090554		2203	4300	6503	SO:0001819	synonymous_variant	4773			B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50090554G>T	U43342, U43341	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			2009-11-24			ENSG00000101096	ENSG00000101096	ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	"Nuclear factor of activated T-cells"	7776	7776	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600490	600490						8202141	8202141	Standard	Standard	NM_012340	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	uc002xwd.4	Q13469	Q13469	OTTHUMG00000032747	OTTHUMG00000032747	ENST00000396009.3:c.1671C>A	20.37:g.50090554G>T			NFATC2_ENST00000609507.1_Silent_p.I338I|NFATC2_ENST00000414705.1_Silent_p.I537I|NFATC2_ENST00000396009.3_Silent_p.I557I|NFATC2_ENST00000610033.1_Silent_p.I338I|NFATC2_ENST00000609943.1_Silent_p.I537I	p.I557I	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			5	1890	-	Hepatocellular(150;0.248)		557	RHD.	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.1671C>A	CCDS13437.1																																																																																									0.567	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		-0.607734	-9	-9	44	44	NM_012340		3	7.072249	7.072249	38	0.073171	1	0	1	1	1	3	38	0.073171	T	50090554	G	T	50090554	2	4	26	1	0	0	0	0	0	0	0	1	10362	1048	37	5		5	NFATC2	20	50090554	Silent	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		50090554	12934966	17	482											
CHD5	26038	broad.mit.edu	37	1	6214772	6214772	+	Silent	SNP	C	C	T	rs141326175		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:6214772C>T	ENST00000262450.3	-	5	792	c.693G>A	c.(691-693)ccG>ccA	p.P231P	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGCACCTGCGGGGGGCTGA	0.687																																						ENST00000262450.3											0			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(691-693)ccG>ccA	chromodomain helicase DNA binding protein 5	C		0,4360		0,0,2180	25	21	22		693	2.8	1	1	dbSNP_134	22	3,8549		0,3,4273	no	coding-synonymous	CHD5	NM_015557.2		0,3,6453	TT,TC,CC		0.0351,0.0,0.0232		231/1955	6214772	3,12909	2180	4276	6456	SO:0001819	synonymous_variant	26038			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6214772C>T	AF425231	AF425231	CCDS57.1	CCDS57.1	1p36.3	2013-01-28			2013-01-28			ENSG00000116254	ENSG00000116254	ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	"Zinc fingers, PHD-type"	16816	16816	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610771	610771						11889561, 12592387	11889561, 12592387	Standard	Standard	NM_015557	NM_015557		Approved		uc001amb.2	uc001amb.2	Q8TDI0	Q8TDI0	OTTHUMG00000000952	OTTHUMG00000000952	ENST00000262450.3:c.693G>A	1.37:g.6214772C>T			CHD5_ENST00000378021.1_5'UTR	p.P231P	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	5	792	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	231		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.693G>A	CCDS57.1																																																																																									0.687	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		86.569169	-5	-5	36	36	NM_015557		29	86.625299	86.625299	33	0.467742	0	0	0	1	0	29	33	0.467742	T	6214772	C	T	6214772	2	4	27	1	0	0	0	0	0	0	0	1	3328	755	27	1		1	CHD5	1	6214772	Silent	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		6214772	243035849	1	483											
DNAJC8	22826	broad.mit.edu	37	1	28555506	28555506	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:28555506A>G	ENST00000263697.4	-	2	133	c.107T>C	c.(106-108)gTt>gCt	p.V36A	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	36					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGTTAGAACCGAGTCTCT	0.353																																						ENST00000263697.4											0			kidney(1)|large_intestine(3)|lung(2)	6						c.(106-108)gTt>gCt	DnaJ (Hsp40) homolog, subfamily C, member 8						106	93	97					1																	28555506		1821	4088	5909	SO:0001583	missense	22826			nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28555506A>G	AF083190	AF083190	CCDS41292.1	CCDS41292.1	1p35	2011-09-02			2011-09-02			ENSG00000126698	ENSG00000126698	ENSG00000126698	ENSG00000126698		"Heat shock proteins / DNAJ (HSP40)"	"Heat shock proteins / DNAJ (HSP40)"	15470	15470	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11147971	11147971	Standard	Standard	NM_014280	NM_014280		Approved	SPF31	uc001bpn.3	uc001bpn.3	O75937	O75937	OTTHUMG00000003538	OTTHUMG00000003538	ENST00000263697.4:c.107T>C	1.37:g.28555506A>G	ENSP00000263697:p.Val36Ala		DNAJC8_ENST00000489277.1_5'UTR	p.V36A	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	2	133	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	36		B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.107T>C	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628755	0.67015	.	.	ENSG00000126698	ENST00000263697	T	0.20463	2.07	5.16	5.16	0.70880	5.16	5.16	0.70880	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	L	0.51422	1.61	0.80722	D	1	P	0.47545	0.897	P	0.45794	0.493	T	0.01762	-1.1279	10	0.29301	T	0.29	-28.1862	13.9683	0.64223	1.0:0.0:0.0:0.0	.	36	O75937	DNJC8_HUMAN	A	36	ENSP00000263697:V36A	ENSP00000263697:V36A	V	-	2	0	0	DNAJC8	28428093	28428093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.670000	0.83925	1.948000	0.56530	0.459000	0.35465	GTT		0.353	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1		137.617233	-8	-8	80	80	NM_014280		43	137.80239	137.80239	52	0.452632	0	0	0	1	0	43	52	0.452632	G	28555506	A	G	28555506	3	3	27	1	0	0	0	0	1	0	0	0	4655	43	2	4	686	4	DNAJC8	1	28555506	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08	22340734	28555506	220695115	2	484											
MRPL24	79590	broad.mit.edu	37	1	156708205	156708205	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr1:156708205G>A	ENST00000361531.2	-	3	345	c.209C>T	c.(208-210)gCc>gTc	p.A70V	MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	70	KOW.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCCGGCATCCTTGCC	0.567																																						ENST00000361531.2											0			endometrium(1)|large_intestine(1)|lung(4)	6						c.(208-210)gCc>gTc	mitochondrial ribosomal protein L24						211	194	200					1																	156708205		2203	4300	6503	SO:0001583	missense	79590			translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708205G>A	AB051341	AB051341	CCDS1155.1	CCDS1155.1	1q23.1	2012-11-14			2012-11-14			ENSG00000143314	ENSG00000143314	ENSG00000143314	ENSG00000143314		"Mitochondrial ribosomal proteins / large subunits"	"Mitochondrial ribosomal proteins / large subunits"	14037	14037	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611836	611836								Standard	Standard	NM_145729	NM_145729		Approved	MRP-L18	uc001fpx.1	uc001fpx.1	Q96A35	Q96A35	OTTHUMG00000041296	OTTHUMG00000041296	ENST00000361531.2:c.209C>T	1.37:g.156708205G>A	ENSP00000354525:p.Ala70Val		MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V	p.A70V			Q96A35	RM24_HUMAN			3	345	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		70	KOW.	D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	c.209C>T	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458233	0.63401	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846	.	.	.	5.57	4.6	0.57074	5.57	4.6	0.57074	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1);	0.109682	0.64402	D	0.000007	T	0.40322	0.1112	M	0.67397	2.05	0.41365	D	0.987454	P	0.39352	0.669	B	0.31016	0.123	T	0.55866	-0.8073	9	0.72032	D	0.01	-17.5247	12.9383	0.58327	0.0:0.0:0.8372:0.1628	.	70	Q96A35	RM24_HUMAN	V	70	.	ENSP00000354525:A70V	A	-	2	0	0	MRPL24	154974829	154974829	0.996000	0.38824	0.984000	0.44739	0.912000	0.54170	2.423000	0.44705	2.633000	0.89246	0.650000	0.86243	GCC		0.567	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1		-33.644007	-12	-12	162	162	NM_145729		4	6.688249	6.688249	157	0.024845	0	0	0	1	0	4	157	0.024845	A	156708205	G	A	156708205	3	1	27	1	0	0	0	0	1	0	0	0	9790	1203	42	2	457	2	MRPL24	1	156708205	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08	128152699	156708205	92542416	3	485											
KRCC1	51315	broad.mit.edu	37	2	88327530	88327530	+	Missense_Mutation	SNP	C	C	T	rs61734751	byFrequency	TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:88327530C>T	ENST00000347055.3	-	4	946	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	185	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TCAATTTCCTCGCAGCTTTTT	0.408													C|||	7	0.00139776	0.0053	0	5008	,	,		17888	0		0	False		,,,				2504	0					ENST00000347055.3											0			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(553-555)Gag>Aag	lysine-rich coiled-coil 1	C	LYS/GLU	24,4382	31.7+/-61.6	0,24,2179	117	125	122		553	5.1	0.8	2	dbSNP_129	122	0,8600		0,0,4300	yes	missense	KRCC1	NM_016618.1	56	0,24,6479	TT,TC,CC		0.0,0.5447,0.1845	possibly-damaging	185/260	88327530	24,12982	2203	4300	6503	SO:0001583	missense	51315						g.chr2:88327530C>T	AF208845	AF208845	CCDS2000.1	CCDS2000.1	2p11.2	2008-02-05			2008-02-05			ENSG00000172086	ENSG00000172086	ENSG00000172086	ENSG00000172086				28039	28039	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	XM_005264360	XM_005264360		Approved	FLJ22333	uc002sso.1	uc002sso.1	Q9NPI7	Q9NPI7	OTTHUMG00000130315	OTTHUMG00000130315	ENST00000347055.3:c.553G>A	2.37:g.88327530C>T	ENSP00000340083:p.Glu185Lys			p.E185K	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	946	-			185	Lys-rich.	Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.553G>A	CCDS2000.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.21	2.467147	0.43839	0.005447	0.0	ENSG00000172086	ENST00000347055	T	0.35973	1.28	5.98	5.11	0.69529	5.98	5.11	0.69529	.	0.339027	0.28203	N	0.016202	T	0.50120	0.1597	M	0.71581	2.175	0.39798	D	0.97252	D	0.89917	1.0	D	0.77004	0.989	T	0.60601	-0.7231	10	0.56958	D	0.05	-21.1108	13.3095	0.60371	0.0:0.924:0.0:0.076	.	185	Q9NPI7	KRCC1_HUMAN	K	185	ENSP00000340083:E185K	ENSP00000340083:E185K	E	-	1	0	0	KRCC1	88108645	88108645	0.996000	0.38824	0.813000	0.32504	0.004000	0.04260	3.835000	0.55805	1.548000	0.49413	-0.133000	0.14855	GAG		0.408	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1		54.738919	-22	-22	135	135	NM_016618		21	59.160782	59.160782	61	0.256098	0	0	0	1	0	21	61	0.256098	T	88327530	C	T	88327530	3	4	27	1	0	0	0	0	1	0	0	0	8441	893	31	1	230	1	KRCC1	2	88327530	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		88327530	154871843	4	486											
ST6GAL2	84620	broad.mit.edu	37	2	107459605	107459605	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:107459605G>A	ENST00000409382.3	-	2	1439	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R277W|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R277W	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	277					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ACCAGGCGCCGCCAGCCCAGC	0.731																																						ENST00000409382.3											0			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(829-831)Cgg>Tgg	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2						4	6	5					2																	107459605		1647	3523	5170	SO:0001583	missense	84620			growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459605G>A	AB059555	AB059555	CCDS2073.1, CCDS46380.1	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	ENSG00000144057	ENSG00000144057	2.4.99.2			10861	10861	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608472	608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2				Standard	Standard	NM_032528	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	uc002tdr.3	Q96JF0	Q96JF0	OTTHUMG00000130923	OTTHUMG00000130923	ENST00000409382.3:c.829C>T	2.37:g.107459605G>A	ENSP00000386942:p.Arg277Trp		ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R277W|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R277W	p.R277W	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	1439	-			277		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.829C>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972296	0.74246	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.31247	1.5;1.5;1.5	4.72	3.84	0.44239	4.72	3.84	0.44239	.	1.117690	0.06782	N	0.785500	T	0.50803	0.1637	L	0.61218	1.895	0.37477	D	0.915859	D;D	0.76494	0.999;0.996	P;P	0.58970	0.711;0.849	T	0.36696	-0.9737	10	0.66056	D	0.02	-5.3243	12.1198	0.53885	0.0:0.5885:0.4115:0.0	.	277;277	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	W	277	ENSP00000355273:R277W;ENSP00000386942:R277W;ENSP00000387332:R277W	ENSP00000355273:R277W	R	-	1	2	2	ST6GAL2	106826037	106826037	0.997000	0.39634	0.899000	0.35326	0.562000	0.35680	2.060000	0.41394	1.108000	0.41662	0.563000	0.77884	CGG		0.731	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1		13.971455	5	5	9	9	NM_032528		5	14.257919	14.257919	2	0.714286	0	0	0	1	0	5	2	0.714286	A	107459605	G	A	107459605	3	1	27	1	0	0	0	0	1	0	0	0	15221	1086	38	1	867	1	ST6GAL2	2	107459605	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08	19132075	107459605	135739768	5	487											
EPC2	26122	broad.mit.edu	37	2	149528843	149528843	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:149528843A>G	ENST00000258484.6	+	10	1641	c.1607A>G	c.(1606-1608)cAg>cGg	p.Q536R		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	536					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		CTAAATTTACAGGACAGTGAT	0.383																																						ENST00000258484.6											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1606-1608)cAg>cGg	enhancer of polycomb homolog 2 (Drosophila)						122	117	118					2																	149528843		1884	4100	5984	SO:0001583	missense	26122			chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528843A>G	AF286904	AF286904	CCDS46422.1	CCDS46422.1	2q23	2008-02-05			2008-02-05			ENSG00000135999	ENSG00000135999	ENSG00000135999	ENSG00000135999				24543	24543	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611000	611000								Standard	Standard	NM_015630	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	uc010zbt.2	Q52LR7	Q52LR7	OTTHUMG00000153739	OTTHUMG00000153739	ENST00000258484.6:c.1607A>G	2.37:g.149528843A>G	ENSP00000258484:p.Gln536Arg			p.Q536R	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1641	+			536		B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1607A>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719089	0.48622	.	.	ENSG00000135999	ENST00000258484	T	0.18810	2.19	5.36	4.12	0.48240	5.36	4.12	0.48240	.	0.078676	0.53938	D	0.000047	T	0.17280	0.0415	L	0.40543	1.245	0.80722	D	1	B	0.26975	0.165	B	0.23574	0.047	T	0.04440	-1.0951	10	0.33141	T	0.24	-2.1473	12.2419	0.54546	0.8581:0.1419:0.0:0.0	.	536	Q52LR7	EPC2_HUMAN	R	536	ENSP00000258484:Q536R	ENSP00000258484:Q536R	Q	+	2	0	0	EPC2	149245313	149245313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.598000	0.54038	2.140000	0.66376	0.460000	0.39030	CAG		0.383	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1		135.162543	1	1	71	71	NM_015630		45	135.34082	135.34082	54	0.454545	0	0	0	1	0	45	54	0.454545	G	149528843	A	G	149528843	3	3	27	1	0	0	0	0	1	0	0	0	5161	188	7	4	1645	4	EPC2	2	149528843	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08	42069238	149528843	93670530	6	488											
ARPC2	10109	broad.mit.edu	37	2	219093472	219093472	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr2:219093472G>A	ENST00000295685.10	+	3	382	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	ARPC2_ENST00000315717.5_Missense_Mutation_p.V41I	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	41					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTCGATGGGGTCCTCTATCA	0.413																																						ENST00000295685.10											0			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(121-123)Gtc>Atc	actin related protein 2/3 complex, subunit 2, 34kDa						105	104	105					2																	219093472		2203	4300	6503	SO:0001583	missense	10109			cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219093472G>A	AF006085	AF006085	CCDS2410.1	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466	ENSG00000163466	ENSG00000163466		"Actin related protein 2/3 complex subunits"	"Actin related protein 2/3 complex subunits"	705	705	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604224	604224	"actin related protein 2/3 complex, subunit 2 (34 kD)"		"actin related protein 2/3 complex, subunit 2 (34 kD)"			9359840, 9230079	9359840, 9230079	Standard	Standard	NM_005731	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	uc002vhd.4	O15144	O15144	OTTHUMG00000133618	OTTHUMG00000133618	ENST00000295685.10:c.121G>A	2.37:g.219093472G>A	ENSP00000295685:p.Val41Ile		ARPC2_ENST00000315717.5_Missense_Mutation_p.V41I	p.V41I	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	3	382	+		Renal(207;0.0474)	41		Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.121G>A	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138944	0.77775	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.84082	2.675	0.80722	D	1	B	0.22211	0.066	B	0.18871	0.023	T	0.70960	-0.4730	9	0.54805	T	0.06	.	19.2755	0.94030	0.0:0.0:1.0:0.0	.	41	O15144	ARPC2_HUMAN	I	41	.	ENSP00000295685:V41I	V	+	1	0	0	ARPC2	218801717	218801717	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.657000	0.98554	2.865000	0.98341	0.655000	0.94253	GTC		0.413	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2		61.196109	-14	-14	43	43	NM_005731		20	61.2169	61.2169	22	0.47619	0	0	0	1	0	20	22	0.47619	A	219093472	G	A	219093472	3	1	27	1	0	0	0	0	1	0	0	0	971	1261	44	3	131	3	ARPC2	2	219093472	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08	69564629	219093472	24105901	7	489											
AMOTL2	51421	broad.mit.edu	37	3	134076564	134076564	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr3:134076564C>T	ENST00000422605.2	-	10	2489	c.2323G>A	c.(2323-2325)Gtg>Atg	p.V775M	AMOTL2_ENST00000513145.1_Missense_Mutation_p.V773M|AMOTL2_ENST00000249883.5_Missense_Mutation_p.V776M|AMOTL2_ENST00000514516.1_Missense_Mutation_p.V833M|RPL39P5_ENST00000273411.2_RNA			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	775					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGTATCTCCACCATGTCTGAC	0.507																																						ENST00000514516.1											0			endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2497-2499)Gtg>Atg	angiomotin like 2						230	188	202					3																	134076564		2203	4300	6503	SO:0001583	missense	51421						g.chr3:134076564C>T	AF175966	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			2008-07-18			ENSG00000114019	ENSG00000114019	ENSG00000114019	ENSG00000114019				17812	17812	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658	614658								Standard	Standard	NM_016201	NM_016201		Approved	LCCP	uc003eqg.1	uc003eqg.1	Q9Y2J4	Q9Y2J4	OTTHUMG00000159777	OTTHUMG00000159777	ENST00000422605.2:c.2323G>A	3.37:g.134076564C>T	ENSP00000409999:p.Val775Met		AMOTL2_ENST00000513145.1_Missense_Mutation_p.V773M|AMOTL2_ENST00000249883.5_Missense_Mutation_p.V776M|AMOTL2_ENST00000422605.2_Missense_Mutation_p.V775M	p.V833M	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			10	2675	-			775		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.2497G>A		.	.	.	.	.	.	.	.	.	.	C	25.3	4.621815	0.87460	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.25085	1.88;1.87;1.82;1.87	5.28	5.28	0.74379	5.28	5.28	0.74379	.	0.074219	0.52532	D	0.000068	T	0.48241	0.1489	L	0.50333	1.59	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.47355	-0.9124	10	0.87932	D	0	-29.9867	18.9412	0.92605	0.0:1.0:0.0:0.0	.	773;776;833	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	M	776;775;833;773	ENSP00000249883:V776M;ENSP00000409999:V775M;ENSP00000424765:V833M;ENSP00000425475:V773M	ENSP00000249883:V776M	V	-	1	0	0	AMOTL2	135559254	135559254	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.472000	0.66768	2.450000	0.82876	0.655000	0.94253	GTG		0.507	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1		152.358930	-36	-36	130	130	NM_016201		52	155.020087	155.020087	94	0.356164	0	0	0	1	0	52	94	0.356164	T	134076564	C	T	134076564	3	4	27	1	0	0	0	0	1	0	0	0	584	507	18	3	20	3	AMOTL2	3	134076564	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		134076564	63945866	8	490											
APC	324	broad.mit.edu	37	5	112170678	112170678	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr5:112170678T>G	ENST00000457016.1	+	15	2154	c.1774T>G	c.(1774-1776)Tta>Gta	p.L592V	APC_ENST00000508376.2_Missense_Mutation_p.L592V|APC_ENST00000257430.4_Missense_Mutation_p.L592V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	592	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATTGAGTGCCTTATGGAATTT	0.388		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(1774-1776)Tta>Gta	adenomatous polyposis coli						179	149	159					5																	112170678		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112170678T>G	M74088	M74088	CCDS4107.1	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	583	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	"protein phosphatase 1, regulatory subunit 46"	611731	611731	"adenomatosis polyposis coli"		"adenomatosis polyposis coli"			1651563	1651563	Standard	Standard	NM_001127511	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	uc003kpy.4	P25054	P25054	OTTHUMG00000128806	OTTHUMG00000128806	ENST00000457016.1:c.1774T>G	5.37:g.112170678T>G	ENSP00000413133:p.Leu592Val		APC_ENST00000508376.2_Missense_Mutation_p.L592V|APC_ENST00000257430.4_Missense_Mutation_p.L592V|CTC-554D6.1_ENST00000520401.1_Intron	p.L592V			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	15	2154	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	592	Leu-rich.	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.1774T>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477506	0.84640	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.93	4.77	0.60923	5.93	4.77	0.60923	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.87172	0.6111	M	0.86651	2.83	0.80722	D	1	P;P	0.52463	0.953;0.953	P;P	0.59546	0.816;0.859	D	0.88373	0.2996	10	0.87932	D	0	-12.9742	11.7181	0.51666	0.0:0.0686:0.0:0.9314	.	594;592	Q4LE70;P25054	.;APC_HUMAN	V	592;574;592;592;592	ENSP00000413133:L592V;ENSP00000423224:L574V;ENSP00000257430:L592V;ENSP00000427089:L592V;ENSP00000423828:L592V	ENSP00000257430:L592V	L	+	1	2	2	APC	112198577	112198577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.392000	0.59659	1.077000	0.40990	0.533000	0.62120	TTA		0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		116.843499	-19	-19	75	75	NM_000038		38	116.868395	116.868395	41	0.481013	0	0	0	1	0	38	41	0.481013	G	112170678	T	G	112170678	3	3	27	1	0	0	0	0	1	0	0	0	763	1606	56	5	1828	5	APC	5	112170678	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		112170678	68744582	9	491											
RELN	5649	broad.mit.edu	37	7	103205756	103205756	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr7:103205756G>C	ENST00000428762.1	-	34	5338	c.5179C>G	c.(5179-5181)Cgg>Ggg	p.R1727G	RELN_ENST00000343529.5_Missense_Mutation_p.R1727G|RELN_ENST00000424685.2_Missense_Mutation_p.R1727G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1727					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R1727W(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGTGATCCGCTTCCAATTC	0.438																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2											1	Substitution - Missense(1)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(5179-5181)Cgg>Ggg	reelin						123	111	115					7																	103205756		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.chr7:103205756G>C			CCDS34722.1, CCDS47680.1	CCDS34722.1, CCDS47680.1	7q22	2008-07-18			2008-07-18			ENSG00000189056	ENSG00000189056	ENSG00000189056	ENSG00000189056				9957	9957	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600514	600514						9049633	9049633	Standard	Standard	NM_005045	NM_005045		Approved	RL, PRO1598	uc010liz.3	uc010liz.3	P78509	P78509	OTTHUMG00000157247	OTTHUMG00000157247	ENST00000428762.1:c.5179C>G	7.37:g.103205756G>C	ENSP00000392423:p.Arg1727Gly		RELN_ENST00000428762.1_Missense_Mutation_p.R1727G|RELN_ENST00000343529.5_Missense_Mutation_p.R1727G	p.R1727G			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5338	-			1727		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5179C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090837	0.76756	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.50813	1.34;0.73;1.34	6.02	4.09	0.47781	6.02	4.09	0.47781	Neuraminidase (1);	0.053048	0.64402	D	0.000001	T	0.70272	0.3205	M	0.84585	2.705	0.48341	D	0.999639	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.979	T	0.76160	-0.3061	10	0.87932	D	0	.	12.891	0.58071	0.0:0.0:0.4962:0.5038	.	1727;1727	P78509-2;P78509	.;RELN_HUMAN	G	1727	ENSP00000392423:R1727G;ENSP00000345694:R1727G;ENSP00000388446:R1727G	ENSP00000345694:R1727G	R	-	1	2	2	RELN	102992992	102992992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.045000	0.49838	1.518000	0.48934	0.655000	0.94253	CGG		0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		-10.267851	-23	-23	51	51	NM_005045		4	8.58709	8.58709	82	0.046512	0	0	0	1	0	4	82	0.046512	C	103205756	G	C	103205756	3	2	27	1	0	0	0	0	1	0	0	0	13220	1086	38	5	5331	5	RELN	7	103205756	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08		103205756	55932907	10	492											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		165.651661	-35	-35	77	77	NM_002072		50	165.734665	165.734665	44	0.531915	0	0	0	1	0	50	44	0.531915	G	80409488	T	G	80409488	3	3	27	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		80409488	60803943	11	493											
SNAPC4	6621	broad.mit.edu	37	9	139276418	139276418	+	Missense_Mutation	SNP	C	C	A	rs201265450		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr9:139276418C>A	ENST00000298532.2	-	17	2543	c.2175G>T	c.(2173-2175)caG>caT	p.Q725H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.Q725H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCTGCCCACTCTGGGTGGCTC	0.677																																						ENST00000298532.2											1	Substitution - Missense(1)	lung(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(2173-2175)caG>caT	small nuclear RNA activating complex, polypeptide 4, 190kDa						21	22	21					9																	139276418		2197	4292	6489	SO:0001583	missense	6621			snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139276418C>A	AF032387	AF032387	CCDS6998.1	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684	ENSG00000165684	ENSG00000165684				11137	11137	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602777	602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"		"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	9418884	Standard	Standard	XM_005266096	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	uc004chh.3	Q5SXM2	Q5SXM2	OTTHUMG00000020929	OTTHUMG00000020929	ENST00000298532.2:c.2175G>T	9.37:g.139276418C>A	ENSP00000298532:p.Gln725His			p.Q725H	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	17	2543	-		Myeloproliferative disorder(178;0.0511)	725			Missense_Mutation	SNP	ENST00000298532.2	37	c.2175G>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912303	0.33721	.	.	ENSG00000165684	ENST00000298532	T	0.25912	1.77	4.08	2.21	0.28008	4.08	2.21	0.28008	.	8.448780	0.00559	N	0.000277	T	0.28797	0.0714	L	0.43152	1.355	0.09310	N	1	P	0.51653	0.947	P	0.44732	0.459	T	0.16837	-1.0389	10	0.49607	T	0.09	-6.1184	7.2401	0.26092	0.0:0.789:0.0:0.211	.	725	Q5SXM2	SNPC4_HUMAN	H	725	ENSP00000298532:Q725H	ENSP00000298532:Q725H	Q	-	3	2	2	SNAPC4	138396239	138396239	0.000000	0.05858	0.003000	0.11579	0.149000	0.21700	-0.235000	0.09016	0.198000	0.20407	0.462000	0.41574	CAG		0.677	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1		35.055769	12	12	26	26	NM_003086		13	35.174223	35.174223	17	0.433333	1	0	0.000151284	1	0.000156012	13	17	0.433333	A	139276418	C	A	139276418	3	1	27	1	0	0	0	0	1	0	0	0	14837	912	32	5	2258	5	SNAPC4	9	139276418	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08	58866930	139276418	1937013	12	494											
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						ENST00000392668.4											0			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt	v-ets avian erythroblastosis virus E26 oncogene homolog 1						155	134	140					11																	128426243		1566	3579	5145	SO:0001583	missense	2113			cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G			CCDS8475.1, CCDS44767.1, CCDS53724.1	CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954	ENSG00000134954	ENSG00000134954				3488	3488	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720	164720		EWSR2		EWSR2		1522903	1522903	Standard	Standard	NM_005238	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	uc001qej.2	P14921	P14921	OTTHUMG00000165799	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu		ETS1_ENST00000525404.1_5'UTR	p.F53L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	241	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		PNT.	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	0	ETS1	127931453	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2		-8.734257	7	7	55	55	NM_005238		3	6.394711	6.394711	65	0.044118	0	0	0	1	0	3	65	0.044118	G	128426243	A	G	128426243	3	3	27	1	0	0	0	0	1	0	0	0	5275	72	3	4	1418	4	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08		128426243	6580273	13	495											
DNAH10	196385	broad.mit.edu	37	12	124257432	124257432	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr12:124257432C>T	ENST00000409039.3	+	4	290	c.265C>T	c.(265-267)Cct>Tct	p.P89S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	89	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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTCTGTACCCCTCTTCCCGA	0.458																																						ENST00000409039.3											0			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(265-267)Cct>Tct	dynein, axonemal, heavy chain 10						175	171	172					12																	124257432		1953	4159	6112	SO:0001583	missense	196385			microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124257432C>T	AJ132089	AJ132089	CCDS9255.2	CCDS9255.2	12q24	2008-02-05	2006-09-04		2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653	ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	"Axonemal dyneins"	2941	2941	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605884	605884	"dynein, axonemal, heavy polypeptide 10"		"dynein, axonemal, heavy polypeptide 10"					Standard	Standard	NM_207437	NM_207437		Approved	FLJ43808	uc001uft.4	uc001uft.4	Q8IVF4	Q8IVF4	OTTHUMG00000154477	OTTHUMG00000154477	ENST00000409039.3:c.265C>T	12.37:g.124257432C>T	ENSP00000386770:p.Pro89Ser			p.P89S	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	4	290	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		89	Stem (By similarity).	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.265C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	2.619	-0.288952	0.05605	.	.	ENSG00000197653	ENST00000409039	T	0.20069	2.1	5.93	3.86	0.44501	5.93	3.86	0.44501	.	.	.	.	.	T	0.09335	0.0230	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.38542	-0.9656	9	0.07482	T	0.82	.	4.2262	0.10582	0.0:0.5848:0.1886:0.2266	.	89	Q8IVF4	DYH10_HUMAN	S	89	ENSP00000386770:P89S	ENSP00000386770:P89S	P	+	1	0	0	DNAH10	122823385	122823385	0.000000	0.05858	0.061000	0.19648	0.003000	0.03518	0.485000	0.22324	1.487000	0.48415	0.655000	0.94253	CCT		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		-33.147555	-20	-20	98	98			4	7.471722	7.471722	158	0.024691	0	0	0	1	0	4	158	0.024691	T	124257432	C	T	124257432	3	4	27	1	0	0	0	0	1	0	0	0	4598	623	22	3	279	3	DNAH10	12	124257432	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		124257432	9594463	14	496											
PTGER2	5732	broad.mit.edu	37	14	52781318	52781318	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr14:52781318T>C	ENST00000245457.5	+	1	206	c.52T>C	c.(52-54)Tgg>Cgg	p.W18R	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	18					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GACGCGACAGTGGCTTCCCCC	0.652																																						ENST00000245457.5											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(52-54)Tgg>Cgg	prostaglandin E receptor 2 (subtype EP2), 53kDa						18	22	21					14																	52781318		2196	4292	6488	SO:0001583	missense	5732				integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781318T>C			CCDS9708.1	CCDS9708.1	14q22	2012-08-08	2002-08-29		2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384	ENSG00000125384	ENSG00000125384		"GPCR / Class A : Prostanoid receptors"	"GPCR / Class A : Prostanoid receptors"	9594	9594	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176804	176804	"prostaglandin E receptor 2 (subtype EP2), 53kD"		"prostaglandin E receptor 2 (subtype EP2), 53kD"			8250933, 7759114	8250933, 7759114	Standard	Standard	NM_000956	NM_000956		Approved	EP2	uc001wzr.3	uc001wzr.3	P43116	P43116	OTTHUMG00000140300	OTTHUMG00000140300	ENST00000245457.5:c.52T>C	14.37:g.52781318T>C	ENSP00000245457:p.Trp18Arg		PTGER2_ENST00000557436.1_Intron	p.W18R	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	206	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		18		D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.52T>C	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881161	0.33255	.	.	ENSG00000125384	ENST00000245457	D	0.83837	-1.77	5.04	2.6	0.31112	5.04	2.6	0.31112	.	0.763029	0.13124	N	0.412005	T	0.76793	0.4037	M	0.73598	2.24	0.28614	N	0.908536	B	0.31730	0.337	B	0.23574	0.047	T	0.64330	-0.6433	10	0.26408	T	0.33	-0.9863	4.4199	0.11476	0.1725:0.0952:0.0:0.7323	.	18	P43116	PE2R2_HUMAN	R	18	ENSP00000245457:W18R	ENSP00000245457:W18R	W	+	1	0	0	PTGER2	51851068	51851068	0.003000	0.15002	0.795000	0.32087	0.935000	0.57460	0.999000	0.29757	0.322000	0.23283	0.397000	0.26171	TGG		0.652	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1		34.662236	6	6	25	25			13	35.384074	35.384074	24	0.351351	0	0	0	1	0	13	24	0.351351	C	52781318	T	C	52781318	3	2	27	1	0	0	0	0	1	0	0	0	12743	1696	59	4	54	4	PTGER2	14	52781318	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		52781318	54568222	15	497											
RASL12	51285	broad.mit.edu	37	15	65347374	65347374	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr15:65347374T>G	ENST00000220062.4	-	5	940	c.664A>C	c.(664-666)Aac>Cac	p.N222H	RASL12_ENST00000434605.2_Missense_Mutation_p.N211H|RASL12_ENST00000421977.3_Missense_Mutation_p.N203H	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	222					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GAGAGCGTGTTGAAGGTGCAG	0.682																																						ENST00000220062.4											0			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(664-666)Aac>Cac	RAS-like, family 12						39	36	37					15																	65347374		2202	4299	6501	SO:0001583	missense	51285			small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65347374T>G	AF233588	AF233588	CCDS10200.1	CCDS10200.1	15q11.2-q22.33	2014-05-09			2014-05-09			ENSG00000103710	ENSG00000103710	ENSG00000103710	ENSG00000103710				30289	30289	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Ras family member Ris"	"Ras family member Ris"								12107412	12107412	Standard	Standard	NM_016563	NM_016563		Approved	RIS	uc002aoi.1	uc002aoi.1	Q9NYN1	Q9NYN1	OTTHUMG00000133115	OTTHUMG00000133115	ENST00000220062.4:c.664A>C	15.37:g.65347374T>G	ENSP00000220062:p.Asn222His		RASL12_ENST00000434605.2_Missense_Mutation_p.N211H|RASL12_ENST00000421977.3_Missense_Mutation_p.N203H	p.N222H	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN			5	940	-			222		B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	c.664A>C	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845022	0.32606	.	.	ENSG00000103710	ENST00000220062;ENST00000421977;ENST00000434605	T;T;T	0.80824	-0.39;-1.42;-0.28	4.94	3.8	0.43715	4.94	3.8	0.43715	.	0.163249	0.43747	D	0.000524	T	0.74076	0.3669	N	0.24115	0.695	0.31444	N	0.671621	B;D;B	0.55385	0.013;0.971;0.006	B;P;B	0.50440	0.005;0.641;0.008	T	0.76647	-0.2882	10	0.87932	D	0	.	9.3012	0.37847	0.0:0.0832:0.0:0.9168	.	211;203;222	B4DU82;B4DJW2;Q9NYN1	.;.;RASLC_HUMAN	H	222;203;211	ENSP00000220062:N222H;ENSP00000390028:N203H;ENSP00000412787:N211H	ENSP00000220062:N222H	N	-	1	0	0	RASL12	63134427	63134427	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	2.204000	0.42761	0.834000	0.34852	0.413000	0.27773	AAC		0.682	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2		41.843972	0	0	20	20	NM_016563		14	42.009271	42.009271	19	0.424242	0	0	0	1	0	14	19	0.424242	G	65347374	T	G	65347374	3	3	27	1	0	0	0	0	1	0	0	0	13083	1812	63	5	140	5	RASL12	15	65347374	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		65347374	37184018	16	498											
SHPK	23729	broad.mit.edu	37	17	3513993	3513993	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr17:3513993G>A	ENST00000225519.3	-	7	1400	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	433					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CCTGGACAGCGCACTCCCACT	0.612																																						ENST00000225519.3											0			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1297-1299)gCg>gTg	sedoheptulokinase						158	155	156					17																	3513993		2203	4300	6503	SO:0001583	missense	23729			carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3513993G>A	AF163573	AF163573	CCDS11030.1	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	ENSG00000197417	ENSG00000197417	2.7.1.14			1492	1492	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605060	605060	"carbohydrate kinase-like"	CARKL	"carbohydrate kinase-like"	CARKL		10673275, 18186520	10673275, 18186520	Standard	Standard	NM_013276	NM_013276		Approved	SHK	uc002fvz.1	uc002fvz.1	Q9UHJ6	Q9UHJ6	OTTHUMG00000090694	OTTHUMG00000090694	ENST00000225519.3:c.1298C>T	17.37:g.3513993G>A	ENSP00000225519:p.Ala433Val			p.A433V	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1400	-			433		B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.1298C>T	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037917	0.93630	.	.	ENSG00000197417	ENST00000225519	T	0.13420	2.59	4.66	4.66	0.58398	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	M	0.81682	2.555	0.80722	D	1	D	0.71674	0.998	P	0.52454	0.699	T	0.22591	-1.0212	10	0.56958	D	0.05	-19.7998	16.9394	0.86213	0.0:0.0:1.0:0.0	.	433	Q9UHJ6	SHPK_HUMAN	V	433	ENSP00000225519:A433V	ENSP00000225519:A433V	A	-	2	0	0	SHPK	3460742	3460742	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.626000	0.90969	2.314000	0.78098	0.563000	0.77884	GCG		0.612	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2		184.904621	-45	-45	105	105			60	184.95215	184.95215	55	0.521739	0	0	0	1	0	60	55	0.521739	A	3513993	G	A	3513993	3	1	27	1	0	0	0	0	1	0	0	0	14290	1087	38	1	142	1	SHPK	17	3513993	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08		3513993	77681217	17	499											
LILRA3	11026	broad.mit.edu	37	19	54802705	54802705	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr19:54802705A>T	ENST00000251390.3	-	5	827	c.736T>A	c.(736-738)Tgt>Agt	p.C246S	LILRA3_ENST00000391744.3_Missense_Mutation_p.C182S|LILRA3_ENST00000391745.1_Missense_Mutation_p.C263S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	246	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGAGCCACACTGGAAGGTC	0.602																																						ENST00000391745.1											0			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(787-789)Tgt>Agt	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3						66	60	62					19																	54802705		2193	4153	6346	SO:0001583	missense	0						g.chr19:54802705A>T	U91926	U91926			19q13.4	2013-01-11			2013-01-11								"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	6604	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604818	604818						9278324, 9548455	9278324, 9548455	Standard	Standard	XM_006710242	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e			Q8N6C8	Q8N6C8			ENST00000251390.3:c.736T>A	19.37:g.54802705A>T	ENSP00000251390:p.Cys246Ser		LILRA3_ENST00000251390.3_Missense_Mutation_p.C246S|LILRA3_ENST00000391744.3_Missense_Mutation_p.C182S	p.C263S						GBM - Glioblastoma multiforme(193;0.105)	9	1103	-	Ovarian(34;0.19)				J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.787T>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.984695	0.35036	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	D;D;D	0.94537	-3.45;-3.45;-3.45	1.79	0.7	0.18099	1.79	0.7	0.18099	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324006	0.22997	N	0.053132	D	0.98046	0.9356	H	0.99770	4.765	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91919	0.5546	10	0.72032	D	0.01	.	4.6785	0.12724	0.6648:0.3352:0.0:0.0	.	246;246	E7EU74;Q8N6C8	.;LIRA3_HUMAN	S	246;182;263	ENSP00000251390:C246S;ENSP00000375624:C182S;ENSP00000375625:C263S	ENSP00000251390:C246S	C	-	1	0	0	LILRA3	59494517	59494517	0.000000	0.05858	0.019000	0.16419	0.027000	0.11550	0.149000	0.16243	0.159000	0.19401	0.473000	0.43528	TGT		0.602	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1		51.506625	2	2	64	64			19	52.552832	52.552832	35	0.351852	0	0	0	1	0	19	35	0.351852	T	54802705	A	T	54802705	3	4	27	1	0	0	0	0	1	0	0	0	8786	159	6	5	595	5	LILRA3	19	54802705	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08		54802705	4326278	18	500											
ELMO2	63916	broad.mit.edu	37	20	45014869	45014869	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chr20:45014869G>C	ENST00000290246.6	-	9	765	c.571C>G	c.(571-573)Cag>Gag	p.Q191E	ELMO2_ENST00000439931.2_Missense_Mutation_p.Q191E|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q191E|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q8E|ELMO2_ENST00000372176.1_Missense_Mutation_p.Q103E|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q189E|ELMO2_ENST00000488853.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	191					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGGGACCTCTGAAGGATTGAC	0.527																																						ENST00000372176.1											0			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(307-309)Cag>Gag	engulfment and cell motility 2						134	119	124					20																	45014869		2203	4300	6503	SO:0001583	missense	63916			apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45014869G>C	AF398886	AF398886	CCDS13398.1	CCDS13398.1	20q13	2010-03-18	2006-01-20		2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598	ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	"Engulfment and cell motility proteins"	17233	17233	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606421	606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"		"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	11595183	Standard	Standard	NM_133171	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	uc002xru.1	Q96JJ3	Q96JJ3	OTTHUMG00000033070	OTTHUMG00000033070	ENST00000290246.6:c.571C>G	20.37:g.45014869G>C	ENSP00000290246:p.Gln191Glu		ELMO2_ENST00000290246.6_Missense_Mutation_p.Q191E|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q8E|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q191E|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q191E|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q189E	p.Q103E			Q96JJ3	ELMO2_HUMAN			9	775	-		Myeloproliferative disorder(115;0.0122)	191		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.307C>G	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292915	0.60086	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000352077;ENST00000450812	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;1.66;0.96;0.96	4.85	4.85	0.62838	4.85	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.60455	1.87	0.80722	D	1	B;P;P	0.37370	0.127;0.592;0.592	B;B;B	0.37091	0.173;0.241;0.241	T	0.27400	-1.0075	10	0.24483	T	0.36	-26.912	17.1413	0.86754	0.0:0.0:1.0:0.0	.	191;191;191	B4DRL5;E9PBG2;Q96JJ3	.;.;ELMO2_HUMAN	E	191;103;191;191;8;189;191	ENSP00000290246:Q191E;ENSP00000361249:Q103E;ENSP00000379673:Q191E;ENSP00000396519:Q191E;ENSP00000409920:Q8E;ENSP00000326172:Q189E;ENSP00000416181:Q191E	ENSP00000290246:Q191E	Q	-	1	0	0	ELMO2	44448276	44448276	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.657000	0.98554	2.526000	0.85167	0.591000	0.81541	CAG		0.527	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1		60.037340	4	4	82	82	NM_022086		21	63.625109	63.625109	56	0.272727	0	0	0	1	0	21	56	0.272727	C	45014869	G	C	45014869	3	2	27	1	0	0	0	0	1	0	0	0	5066	1299	45	5	1647	5	ELMO2	20	45014869	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08		45014869	18010651	19	501											
EIF1AX	1964	broad.mit.edu	37	X	20156735	20156735	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chrX:20156735C>T	ENST00000379607.5	-	2	225	c.22G>A	c.(22-24)Gga>Aga	p.G8R	snoU2_19_ENST00000364722.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGAT	0.308																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(22-24)Gga>Aga	eukaryotic translation initiation factor 1A, X-linked						135	126	129					X																	20156735		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156735C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.22G>A	X.37:g.20156735C>T	ENSP00000368927:p.Gly8Arg		EIF1AX_ENST00000379593.1_Intron	p.G8R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	225	-			8		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.22G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722807	0.68959	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79143	0.4396	H	0.96365	3.81	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.86825	0.2007	9	0.87932	D	0	-2.5166	17.661	0.88193	0.0:1.0:0.0:0.0	.	8	P47813	IF1AX_HUMAN	R	8	ENSP00000368927:G8R	ENSP00000368927:G8R	G	-	1	0	0	EIF1AX	20066656	20066656	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGA		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		125.655225	-34	-34	126	126			41	126.293036	126.293036	58	0.414141	0	0	0	1	0	41	58	0.414141	T	20156735	C	T	20156735	3	4	27	1	0	0	0	0	1	0	0	0	4992	690	24	3	436	3	EIF1AX	23	20156735	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		20156735	135113825	20	502											
HUWE1	10075	broad.mit.edu	37	X	53589168	53589170	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	g.chrX:53589168_53589170delCTC	ENST00000342160.3	-	53	7697_7699	c.7240_7242delGAG	c.(7240-7242)gagdel	p.E2414del	HUWE1_ENST00000262854.6_In_Frame_Del_p.E2414del			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2414	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGAGTGTGCTCCTCCTCATCC	0.493																																						ENST00000342160.3											0			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(7240-7242)gagdel	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase																																			SO:0001651	inframe_deletion	10075			base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53589168_53589170delCTC	AB071605	AB071605	CCDS35301.1	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758	ENSG00000086758	ENSG00000086758				30892	30892	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300697	300697	"HECT, UBA and WWE domain containing 1"		"HECT, UBA and WWE domain containing 1"			9205841, 10998601	9205841, 10998601	Standard	Standard	NM_031407	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	uc004dsp.4	Q7Z6Z7	Q7Z6Z7	OTTHUMG00000021617	OTTHUMG00000021617	ENST00000342160.3:c.7240_7242delGAG	X.37:g.53589174_53589176delCTC	ENSP00000340648:p.Glu2414del		HUWE1_ENST00000262854.6_In_Frame_Del_p.E2414del	p.E2414del			Q7Z6Z7	HUWE1_HUMAN			53	7697_7699	-			2414	Glu-rich.	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	In_Frame_Del	DEL	ENST00000342160.3	37	c.7240_7242delGAG	CCDS35301.1																																																																																									0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	.	.	-5	-5	30	30	XM_497119		15			50	0.23						15	50	0.23	-	53589170	CTC	-	53589168	7	5	27	1	0	1	0	1	0	0	0	0	7461	796	28	0	6006	0	HUWE1	23	53589168	In_Frame_Del	DEL	CTC	TCGA-V4-A9EY-01A-11D-A39W-08	33432433	53589168	101681392	21	503											
PYCR2	29920	broad.mit.edu	37	1	226108959	226108959	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr1:226108959C>T	ENST00000343818.6	-	6	894	c.746G>A	c.(745-747)gGc>gAc	p.G249D	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.G175D|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	249					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	AGAGCGGAAGCCCCCACTCTC	0.592																																						ENST00000343818.6											0			kidney(1)|lung(3)	4						c.(745-747)gGc>gAc	pyrroline-5-carboxylate reductase family, member 2						58	61	60					1																	226108959		2203	4300	6503	SO:0001583	missense	29920			proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226108959C>T	AF151351	AF151351	CCDS31043.1, CCDS73039.1	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			2008-02-05			ENSG00000143811	ENSG00000143811	ENSG00000143811	ENSG00000143811				30262	30262	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_013328	NM_013328		Approved	P5CR2	uc001hpq.4	uc001hpq.4	Q96C36	Q96C36	OTTHUMG00000037506	OTTHUMG00000037506	ENST00000343818.6:c.746G>A	1.37:g.226108959C>T	ENSP00000342502:p.Gly249Asp		PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.G175D	p.G249D	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN			6	894	-	Breast(184;0.197)		249		A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	37	c.746G>A	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	c	24.8	4.572638	0.86542	.	.	ENSG00000255835;ENSG00000143811;ENSG00000143811	ENST00000432920;ENST00000343818;ENST00000316940	D;D	0.85556	-2.0;-2.0	5.34	5.34	0.76211	5.34	5.34	0.76211	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	M	0.66506	2.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.92126	0.5708	10	0.87932	D	0	0.0408	16.8847	0.86072	0.0:1.0:0.0:0.0	.	175;249;248	E7EUD8;Q96C36;E7EUS9	.;P5CR2_HUMAN;.	D	175;249;248	ENSP00000414068:G175D;ENSP00000342502:G249D	ENSP00000321781:G248D	G	-	2	0	0	PYCR2;RP4-559A3.7	224175582	224175582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.015000	0.70791	2.652000	0.90054	0.561000	0.74099	GGC		0.592	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1		68.014686	5	5	46	46	NM_013328		23	68.019485	68.019485	24	0.489362	0	0	0	1	0	23	24	0.489362	T	226108959	C	T	226108959	3	4	28	1	0	0	0	0	1	0	0	0	12856	739	26	2	224	2	PYCR2	1	226108959	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		226108959	23141662	1	504											
HAT1	8520	broad.mit.edu	37	2	172841177	172841177	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr2:172841177G>A	ENST00000264108.4	+	9	941	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	HAT1_ENST00000392584.1_Missense_Mutation_p.R217Q|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	302					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGTTTTTCCCGGGAAAAATTA	0.353																																						ENST00000264108.4											0			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(904-906)cGg>cAg	histone acetyltransferase 1						71	70	70					2																	172841177		2203	4300	6503	SO:0001583	missense	8520			chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172841177G>A	AF030424	AF030424	CCDS2245.1	CCDS2245.1	2q31.2-q33.1	2011-07-01			2011-07-01			ENSG00000128708	ENSG00000128708	ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	4821	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603053	603053						9427644	9427644	Standard	Standard	NM_003642	NM_003642		Approved	KAT1	uc002uhi.3	uc002uhi.3	O14929	O14929	OTTHUMG00000132282	OTTHUMG00000132282	ENST00000264108.4:c.905G>A	2.37:g.172841177G>A	ENSP00000264108:p.Arg302Gln		SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R217Q	p.R302Q	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	941	+			302		Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.905G>A	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685286	0.29872	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.41	3.4	0.38934	5.41	3.4	0.38934	Acyl-CoA N-acyltransferase (1);	0.463917	0.24014	N	0.042354	T	0.29256	0.0728	N	0.13098	0.295	0.32053	N	0.596658	B;B	0.17268	0.021;0.012	B;B	0.04013	0.001;0.001	T	0.34601	-0.9822	9	0.87932	D	0	-17.821	9.4959	0.38989	0.0:0.4608:0.4184:0.1209	.	217;302	O14929-2;O14929	.;HAT1_HUMAN	Q	217;302	.	ENSP00000264108:R302Q	R	+	2	0	0	HAT1	172549423	172549423	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.207000	0.32333	1.359000	0.45940	0.655000	0.94253	CGG		0.353	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1		-2.080570	-22	-22	49	49	NM_003642		5	10.634432	10.634432	63	0.073529	0	0	0	1	0	5	63	0.073529	A	172841177	G	A	172841177	3	1	28	1	0	0	0	0	1	0	0	0	6964	1116	39	1	939	1	HAT1	2	172841177	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		172841177	70358196	2	505											
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95	92	93					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		93.617926	10	10	65	65			31	93.865756	93.865756	40	0.43662	0	0	0	1	0	31	40	0.43662	T	198267483	C	T	198267483	3	4	28	1	0	0	0	0	1	0	0	0	14149	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	25426306	198267483	44931890	3	506											
TMEM39A	55254	broad.mit.edu	37	3	119156948	119156948	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr3:119156948A>T	ENST00000319172.5	-	6	998	c.578T>A	c.(577-579)tTt>tAt	p.F193Y	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	193						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ATAAACACCAAACCTGTAAAA	0.363																																						ENST00000319172.5											0			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(577-579)tTt>tAt	transmembrane protein 39A						36	33	34					3																	119156948		2203	4300	6503	SO:0001583	missense	55254				integral to membrane		g.chr3:119156948A>T	BC021277	BC021277	CCDS2987.1	CCDS2987.1	3q13.33	2005-01-10			2005-01-10			ENSG00000176142	ENSG00000176142	ENSG00000176142	ENSG00000176142				25600	25600	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_018266	NM_018266		Approved	FLJ10902	uc003eck.2	uc003eck.2	Q9NV64	Q9NV64	OTTHUMG00000159361	OTTHUMG00000159361	ENST00000319172.5:c.578T>A	3.37:g.119156948A>T	ENSP00000326063:p.Phe193Tyr		TMEM39A_ENST00000486159.1_5'UTR	p.F193Y	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	6	998	-			193		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.578T>A	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134210	0.77662	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.50548	0.74	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.155564	0.64402	D	0.000014	T	0.63896	0.2550	L	0.55743	1.74	0.80722	D	1	D	0.62365	0.991	D	0.71414	0.973	T	0.66143	-0.5997	10	0.66056	D	0.02	-13.6667	15.0573	0.71925	1.0:0.0:0.0:0.0	.	193	Q9NV64	TM39A_HUMAN	Y	193;39	ENSP00000326063:F193Y	ENSP00000326063:F193Y	F	-	2	0	0	TMEM39A	120639638	120639638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.153000	0.67306	0.528000	0.53228	TTT		0.363	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3		44.215847	0	0	33	33	NM_018266		15	44.223122	44.223122	16	0.483871	0	0	0	1	0	15	16	0.483871	T	119156948	A	T	119156948	3	4	28	1	0	0	0	0	1	0	0	0	16158	14	1	5	904	5	TMEM39A	3	119156948	Missense_Mutation	SNP	A	TCGA-V4-A9EZ-01A-11D-A39W-08		119156948	78865482	4	507											
PLA1A	51365	broad.mit.edu	37	3	119347699	119347699	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr3:119347699C>T	ENST00000273371.4	+	10	1345	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S	PLA1A_ENST00000495992.1_Missense_Mutation_p.P409S|PLA1A_ENST00000494440.1_Missense_Mutation_p.P409S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P252S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	425	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCCCTTTTGCCTGTCAATGA	0.453																																						ENST00000273371.4											0			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1273-1275)Cct>Tct	phospholipase A1 member A						111	109	110					3																	119347699		2203	4300	6503	SO:0001583	missense	51365			lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119347699C>T	AF035268	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			2002-11-28			ENSG00000144837	ENSG00000144837	ENSG00000144837	ENSG00000144837				17661	17661	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607460	607460						10196188	10196188	Standard	Standard	NM_015900	NM_015900		Approved	ps-PLA1	uc003ecu.3	uc003ecu.3	Q53H76	Q53H76	OTTHUMG00000159425	OTTHUMG00000159425	ENST00000273371.4:c.1273C>T	3.37:g.119347699C>T	ENSP00000273371:p.Pro425Ser		PLA1A_ENST00000495992.1_Missense_Mutation_p.P409S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P252S|PLA1A_ENST00000494440.1_Missense_Mutation_p.P409S	p.P425S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			10	1345	+			425	Involved in the recognition of diacyl- phospholipids.	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.1273C>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887762	0.52014	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.95412	-3.16;-3.7;-3.06;-3.22	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.123692	0.56097	D	0.000037	D	0.95790	0.8630	L	0.36672	1.1	0.42046	D	0.991091	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93881	0.7171	10	0.17369	T	0.5	-20.3177	16.0768	0.80974	0.0:1.0:0.0:0.0	.	409;425	Q53H76-3;Q53H76	.;PLA1A_HUMAN	S	425;252;409;409	ENSP00000273371:P425S;ENSP00000420625:P252S;ENSP00000417326:P409S;ENSP00000418793:P409S	ENSP00000273371:P425S	P	+	1	0	0	PLA1A	120830389	120830389	1.000000	0.71417	0.883000	0.34634	0.172000	0.22775	4.300000	0.59079	2.521000	0.84997	0.561000	0.74099	CCT		0.453	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2		-22.969600	1	1	131	131			4	7.501847	7.501847	123	0.031496	0	0	0	1	0	4	123	0.031496	T	119347699	C	T	119347699	3	4	28	1	0	0	0	0	1	0	0	0	11988	739	26	2	1311	2	PLA1A	3	119347699	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	190751	119347699	78674731	5	508											
PPID	5481	broad.mit.edu	37	4	159638314	159638314	+	Silent	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr4:159638314G>A	ENST00000307720.3	-	4	479	c.372C>T	c.(370-372)ggC>ggT	p.G124G		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	124	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		TTGTGTTGCGGCCTGCATTTG	0.393																																						ENST00000307720.3											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(370-372)ggC>ggT	peptidylprolyl isomerase D						117	116	116					4																	159638314		2203	4300	6503	SO:0001819	synonymous_variant	5481			protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159638314G>A			CCDS3801.1	CCDS3801.1	4q31.3	2013-01-10	2008-10-24		2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497	ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	9257	9257	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cyclophilin 40"	"cyclophilin 40"	601753	601753	"peptidylprolyl isomerase D (cyclophilin D)"		"peptidylprolyl isomerase D (cyclophilin D)"			8509368	8509368	Standard	Standard	NM_005038	NM_005038		Approved	CYP-40	uc003iqc.3	uc003iqc.3	Q08752	Q08752	OTTHUMG00000161927	OTTHUMG00000161927	ENST00000307720.3:c.372C>T	4.37:g.159638314G>A				p.G124G	NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	4	479	-	all_hematologic(180;0.24)		124	PPIase cyclophilin-type.	B2R9V2	Silent	SNP	ENST00000307720.3	37	c.372C>T	CCDS3801.1																																																																																									0.393	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1		73.922387	-13	-13	57	57	NM_005038		26	75.967899	75.967899	53	0.329114	0	0	0	1	0	26	53	0.329114	A	159638314	G	A	159638314	2	1	28	1	0	0	0	0	0	0	0	1	12321	1190	42	2		2	PPID	4	159638314	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		159638314	31515962	6	509											
ODZ2	57451	broad.mit.edu	37	5	167689135	167689135	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr5:167689135C>A	ENST00000518659.1	+	29	7684	c.7645C>A	c.(7645-7647)Ctc>Atc	p.L2549I	TENM2_ENST00000520394.1_Missense_Mutation_p.L2310I|TENM2_ENST00000519204.1_Missense_Mutation_p.L2428I|TENM2_ENST00000545108.1_Missense_Mutation_p.L2548I|TENM2_ENST00000403607.2_Missense_Mutation_p.L2373I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2549					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)										TACTAAAAAGCTCCACGCCAG	0.507																																						ENST00000519204.1											0										c.(7282-7284)Ctc>Atc	teneurin transmembrane protein 2						44	44	44					5																	167689135		2002	4166	6168	SO:0001583	missense	57451						g.chr5:167689135C>A	AB032953	AB032953			5q35	2012-10-02	2012-10-02	2012-10-02	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934	ENSG00000145934	ENSG00000145934				29943	29943	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610119	610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	10625539	Standard	Standard	NM_001122679	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	uc010jjd.3	Q9NT68	Q9NT68	OTTHUMG00000162928	OTTHUMG00000162928	ENST00000518659.1:c.7645C>A	5.37:g.167689135C>A	ENSP00000429430:p.Leu2549Ile		TENM2_ENST00000518659.1_Missense_Mutation_p.L2549I|TENM2_ENST00000520394.1_Missense_Mutation_p.L2310I|TENM2_ENST00000545108.1_Missense_Mutation_p.L2548I|TENM2_ENST00000403607.2_Missense_Mutation_p.L2373I	p.L2428I							28	7400	+					Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7282C>A		.	.	.	.	.	.	.	.	.	.	C	13.77	2.335708	0.41398	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89875	-2.1;-2.09;-2.2;-2.58;-2.57	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.183165	0.46442	D	0.000300	T	0.72526	0.3471	N	0.02539	-0.55	0.37417	D	0.913466	P;P;B	0.45902	0.868;0.629;0.318	B;B;B	0.38880	0.284;0.247;0.1	T	0.78145	-0.2318	10	0.29301	T	0.29	.	12.5364	0.56144	0.0:0.8801:0.0:0.1199	.	2548;2549;2310	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	2549;2548;2428;2310;2373	ENSP00000429430:L2549I;ENSP00000438635:L2548I;ENSP00000428964:L2428I;ENSP00000427874:L2310I;ENSP00000384905:L2373I	ENSP00000384905:L2373I	L	+	1	0	0	ODZ2	167621713	167621713	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.966000	0.40481	2.694000	0.91930	0.655000	0.94253	CTC		0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		-0.205602	-8	-8	26	26	NM_001122679		3	6.412703	6.412703	34	0.081081	1	0	1	1	1	3	34	0.081081	A	167689135	C	A	167689135	3	1	28	1	0	0	0	0	1	0	0	0	10835	797	28	5	7732	5	ODZ2	5	167689135	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		167689135	13226125	7	510											
TNS3	64759	broad.mit.edu	37	7	47440411	47440411	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr7:47440411C>G	ENST00000398879.1	-	14	1190	c.824G>C	c.(823-825)gGg>gCg	p.G275A	TNS3_ENST00000311160.9_Missense_Mutation_p.G275A|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	275	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATCCTCCTTCCCAAACACCAG	0.582																																						ENST00000398879.1											0			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(823-825)gGg>gCg	tensin 3						77	94	89					7																	47440411		2066	4206	6272	SO:0001583	missense	64759				focal adhesion	protein binding	g.chr7:47440411C>G	AF378756	AF378756	CCDS5506.2	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	"SH2 domain containing"	21616	21616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	"tumor endothelial marker 6"	606825	606825	"tensin-like SH2 domain-containing 1"	TENS1	"tensin-like SH2 domain-containing 1"	TENS1		11559528	11559528	Standard	Standard	NM_022748	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	uc003tnw.3	Q68CZ2	Q68CZ2	OTTHUMG00000074075	OTTHUMG00000074075	ENST00000398879.1:c.824G>C	7.37:g.47440411C>G	ENSP00000381854:p.Gly275Ala		TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.G275A	p.G275A			Q68CZ2	TENS3_HUMAN			14	1190	-			275	C2 tensin-type.	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.824G>C	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696714	0.48202	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.99	4.1	0.47936	4.99	4.1	0.47936	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.273612	0.35677	N	0.003060	T	0.78972	0.4368	L	0.55834	1.745	0.80722	D	1	B	0.15719	0.014	B	0.16289	0.015	T	0.69859	-0.5031	10	0.06236	T	0.91	-15.2264	13.0126	0.58739	0.0:0.8269:0.1731:0.0	.	275	Q68CZ2	TENS3_HUMAN	A	275;385;275;378;364	ENSP00000312143:G275A;ENSP00000381854:G275A;ENSP00000414358:G378A;ENSP00000396914:G364A	ENSP00000312143:G275A	G	-	2	0	0	TNS3	47406936	47406936	0.865000	0.29922	0.532000	0.27989	0.970000	0.65996	1.607000	0.36836	1.106000	0.41623	0.456000	0.33151	GGG		0.582	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		26.495752	-6	-6	49	49	NM_022748		11	30.496874	30.496874	41	0.211538	0	0	0	1	0	11	41	0.211538	G	47440411	C	G	47440411	3	3	28	1	0	0	0	0	1	0	0	0	16341	623	22	5	3585	5	TNS3	7	47440411	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		47440411	111698252	8	511											
ZNF479	90827	broad.mit.edu	37	7	57188369	57188369	+	Silent	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr7:57188369G>A	ENST00000331162.4	-	5	1023	c.753C>T	c.(751-753)agC>agT	p.S251S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	251					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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTGCAGACCAGCTAAAGGCTT	0.428																																						ENST00000331162.4											0			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(751-753)agC>agT	zinc finger protein 479						42	43	43					7																	57188369		2097	4241	6338	SO:0001819	synonymous_variant	90827			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188369G>A	AF277624	AF277624	CCDS43590.1	CCDS43590.1	7p11.2	2013-01-08			2013-01-08			ENSG00000185177	ENSG00000185177	ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	23258	23258	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11410164	11410164	Standard	Standard	NM_033273	NM_033273		Approved	KR19	uc010kzo.3	uc010kzo.3	Q96JC4	Q96JC4	OTTHUMG00000156682	OTTHUMG00000156682	ENST00000331162.4:c.753C>T	7.37:g.57188369G>A				p.S251S	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1023	-			251			Silent	SNP	ENST00000331162.4	37	c.753C>T	CCDS43590.1																																																																																									0.428	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1		56.847511	2	2	53	53	XM_291202		18	56.853435	56.853435	19	0.486486	0	0	0	1	0	18	19	0.486486	A	57188369	G	A	57188369	2	1	28	1	0	0	0	0	0	0	0	1	17930	962	34	2		2	ZNF479	7	57188369	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08	9747958	57188369	101950294	9	512											
COL14A1	7373	broad.mit.edu	37	8	121216019	121216019	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr8:121216019G>A	ENST00000297848.3	+	9	1219	c.949G>A	c.(949-951)Gtt>Att	p.V317I	COL14A1_ENST00000309791.4_Missense_Mutation_p.V317I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V222I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.V317I	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGTGTACAATGTTGCCGAATT	0.463																																						ENST00000297848.3											0			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(949-951)Gtt>Att	collagen, type XIV, alpha 1						137	117	124					8																	121216019		2203	4300	6503	SO:0001583	missense	7373			cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121216019G>A			CCDS34938.1	CCDS34938.1	8q23	2013-02-11	2008-02-04		2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955	ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	"Collagens", "Fibronectin type III domain containing"	2191	2191	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120324	120324	"undulin"	UND	"undulin"	UND		1716629, 9427527	1716629, 9427527	Standard	Standard	NM_021110	NM_021110		Approved		uc003yox.4	uc003yox.4	Q05707	Q05707	OTTHUMG00000149877	OTTHUMG00000149877	ENST00000297848.3:c.949G>A	8.37:g.121216019G>A	ENSP00000297848:p.Val317Ile		COL14A1_ENST00000247781.3_Missense_Mutation_p.V222I|COL14A1_ENST00000309791.4_Missense_Mutation_p.V317I|COL14A1_ENST00000537875.1_Missense_Mutation_p.V317I|COL14A1_ENST00000432943.2_3'UTR	p.V317I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		9	1219	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		317	VWFA 1.		Missense_Mutation	SNP	ENST00000297848.3	37	c.949G>A	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.371678|4.371678	0.82573|0.82573	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T;D	.|0.84070	.|-1.27;-1.27;-1.27;0.39;-1.8	5.32|5.32	5.32|5.32	0.75619|0.75619	5.32|5.32	5.32|5.32	0.75619|0.75619	.|von Willebrand factor, type A (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84633|0.84633	0.5515|0.5515	M|M	0.75150|0.75150	2.29|2.29	0.54753|0.54753	D|D	0.999989|0.999989	.|P	.|0.39044	.|0.656	.|B	.|0.41332	.|0.354	T|T	0.82544|0.82544	-0.0404|-0.0404	5|10	.|0.25751	.|T	.|0.34	.|.	19.1925|19.1925	0.93672|0.93672	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317	.|Q05707	.|COEA1_HUMAN	Y|I	73|317;317;317;222;130	.|ENSP00000443974:V317I;ENSP00000311809:V317I;ENSP00000297848:V317I;ENSP00000247781:V222I;ENSP00000409461:V130I	.|ENSP00000247781:V222I	C|V	+|+	2|1	0|0	0|0	COL14A1|COL14A1	121285200|121285200	121285200|121285200	1.000000|1.000000	0.71417|0.71417	0.476000|0.476000	0.27291|0.27291	0.348000|0.348000	0.29142|0.29142	9.640000|9.640000	0.98453|0.98453	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	TGT|GTT		0.463	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		27.967615	-7	-7	29	29	NM_021110		12	32.585343	32.585343	46	0.206897	0	0	0	1	0	12	46	0.206897	A	121216019	G	A	121216019	3	1	28	1	0	0	0	0	1	0	0	0	3671	1377	48	3	979	3	COL14A1	8	121216019	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		121216019	25148003	10	513											
TMEM2	23670	broad.mit.edu	37	9	74312944	74312944	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:74312944G>A	ENST00000377044.4	-	20	4093	c.3554C>T	c.(3553-3555)cCg>cTg	p.P1185L	TMEM2_ENST00000396272.3_Missense_Mutation_p.P178L|TMEM2_ENST00000377066.5_Missense_Mutation_p.P1122L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1185					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GAGCATGGCCGGCATCCGCTT	0.512																																						ENST00000377044.4											0			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(3553-3555)cCg>cTg	transmembrane protein 2						133	103	113					9																	74312944		2203	4300	6503	SO:0001583	missense	23670				integral to membrane		g.chr9:74312944G>A			CCDS6638.1, CCDS47979.1	CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			2011-07-19			ENSG00000135048	ENSG00000135048	ENSG00000135048	ENSG00000135048				11869	11869	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605835	605835								Standard	Standard	NM_013390	NM_013390		Approved		uc011lsa.1	uc011lsa.1	Q9UHN6	Q9UHN6	OTTHUMG00000020000	OTTHUMG00000020000	ENST00000377044.4:c.3554C>T	9.37:g.74312944G>A	ENSP00000366243:p.Pro1185Leu		TMEM2_ENST00000377066.5_Missense_Mutation_p.P1122L|TMEM2_ENST00000396272.3_Missense_Mutation_p.P178L	p.P1185L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	20	4093	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1185		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.3554C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250524	0.80024	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.39592	1.07;1.07;1.07	5.8	4.91	0.64330	5.8	4.91	0.64330	.	0.104160	0.64402	D	0.000002	T	0.64649	0.2617	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.71414	0.701;0.973	T	0.70066	-0.4974	10	0.87932	D	0	.	14.402	0.67053	0.0715:0.0:0.9285:0.0	.	1185;1122	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	1185;1122;178	ENSP00000366243:P1185L;ENSP00000366266:P1122L;ENSP00000379569:P178L	ENSP00000366243:P1185L	P	-	2	0	0	TMEM2	73502764	73502764	1.000000	0.71417	0.853000	0.33588	0.657000	0.38888	8.660000	0.91121	1.445000	0.47624	0.563000	0.77884	CCG		0.512	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2		-5.122604	15	15	82	82	NM_013390		3	6.929319	6.929319	54	0.052632	0	0	0	1	0	3	54	0.052632	A	74312944	G	A	74312944	3	1	28	1	0	0	0	0	1	0	0	0	16118	1116	39	1	617	1	TMEM2	9	74312944	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		74312944	66900487	11	514											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		148.835616	-29	-29	83	83	NM_002072		43	149.122225	149.122225	33	0.565789	0	0	0	1	0	43	33	0.565789	G	80409488	T	G	80409488	3	3	28	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9EZ-01A-11D-A39W-08	6096544	80409488	60803943	12	515											
AKAP2	11217	broad.mit.edu	37	9	112899621	112899621	+	Silent	SNP	G	G	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:112899621G>T	ENST00000259318.7	+	2	1311	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L	PALM2-AKAP2_ENST00000302798.7_Silent_p.L599L|AKAP2_ENST00000510514.5_Silent_p.L599L|AKAP2_ENST00000374525.1_Silent_p.L457L|AKAP2_ENST00000434623.2_Silent_p.L457L|PALM2-AKAP2_ENST00000374530.3_Silent_p.L599L|AKAP2_ENST00000555236.1_Silent_p.L599L	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	368										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ACAAGCCACTGACTAATCCGA	0.602																																						ENST00000374530.3											0			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1795-1797)ctG>ctT							57	62	60					9																	112899621		2203	4300	6503	SO:0001819	synonymous_variant	0					enzyme binding	g.chr9:112899621G>T	AB023137	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	CCDS35100.1, CCDS35101.1	9q31.3	2009-10-16			2010-02-17			ENSG00000241978	ENSG00000241978	ENSG00000157654	ENSG00000157654		"A-kinase anchor proteins"		372	33529	protein-coding gene	gene with protein product	other	readthrough	"protein kinase A2"		604582			PRKA2				10231032	11478809	Standard	Standard	NM_001136562	NM_147150		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		uc004bej.4	Q9Y2D5		OTTHUMG00000156811	OTTHUMG00000156812	ENST00000259318.7:c.1104G>T	9.37:g.112899621G>T			AKAP2_ENST00000555236.1_Silent_p.L599L|AKAP2_ENST00000510514.5_Silent_p.L599L|AKAP2_ENST00000374525.1_Silent_p.L457L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L599L|AKAP2_ENST00000434623.2_Silent_p.L457L|AKAP2_ENST00000259318.7_Silent_p.L368L	p.L599L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	1977	+			368		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.1797G>T	CCDS48003.1																																																																																									0.602	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3		66.377202	-18	-18	66	66	NM_001004065		24	67.905026	67.905026	46	0.342857	1	0	2.41591e-17	1	2.60664e-17	24	46	0.342857	T	112899621	G	T	112899621	2	4	28	1	0	0	0	0	0	0	0	1	451	1277	45	5		5	AKAP2	9	112899621	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08	32490133	112899621	28313810	13	516											
MYOF	26509	broad.mit.edu	37	10	95191210	95191210	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr10:95191210C>T	ENST00000359263.4	-	4	299	c.300G>A	c.(298-300)ccG>ccA	p.P100P	MYOF_ENST00000358334.5_Silent_p.P100P|MYOF_ENST00000371489.1_Silent_p.P100P|MYOF_ENST00000371501.4_Silent_p.P100P|MYOF_ENST00000371502.4_Silent_p.P100P|MYOF_ENST00000371488.3_Silent_p.P100P	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	100					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAGCTTGTACGGCAGGGATC	0.468																																						ENST00000371501.4											0			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(298-300)ccG>ccA	myoferlin						91	88	89					10																	95191210		1957	4164	6121	SO:0001819	synonymous_variant	26509			blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95191210C>T	AB033033	AB033033	CCDS41550.1, CCDS41551.1	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119	ENSG00000138119	ENSG00000138119				3656	3656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fer-1-like family member 3"	"fer-1-like family member 3"	604603	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	10607832, 10995573, 17702744	Standard	Standard	NM_013451	NM_013451		Approved	KIAA1207	uc001kin.3	uc001kin.3	Q9NZM1	Q9NZM1	OTTHUMG00000018772	OTTHUMG00000018772	ENST00000359263.4:c.300G>A	10.37:g.95191210C>T			MYOF_ENST00000371502.4_Silent_p.P100P|MYOF_ENST00000371488.3_Silent_p.P100P|MYOF_ENST00000358334.5_Silent_p.P100P|MYOF_ENST00000359263.4_Silent_p.P100P|MYOF_ENST00000371489.1_Silent_p.P100P	p.P100P			Q9NZM1	MYOF_HUMAN			4	422	-			100		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.300G>A	CCDS41551.1																																																																																									0.468	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		85.519608	6	6	50	50	NM_013451		27	85.611763	85.611763	32	0.457627	0	0	0	1	0	27	32	0.457627	T	95191210	C	T	95191210	2	4	28	1	0	0	0	0	0	0	0	1	10089	523	19	1		1	MYOF	10	95191210	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		95191210	40343537	14	517											
CAT	847	broad.mit.edu	37	11	34489856	34489856	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr11:34489856G>A	ENST00000241052.4	+	11	1437	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	450					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTATGTGAACGTGCTGAATGA	0.443																																						ENST00000241052.4											0			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(1348-1350)Gtg>Atg	catalase						136	134	135					11																	34489856		2202	4298	6500	SO:0001583	missense	847			hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34489856G>A	AY028632	AY028632	CCDS7891.1	CCDS7891.1	11p13	2012-10-02			2012-10-02			ENSG00000121691	ENSG00000121691	ENSG00000121691	ENSG00000121691	1.11.1.6			1516	1516	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			115500	115500								Standard	Standard	NM_001752	NM_001752		Approved		uc001mvm.3	uc001mvm.3	P04040	P04040	OTTHUMG00000044353	OTTHUMG00000044353	ENST00000241052.4:c.1348G>A	11.37:g.34489856G>A	ENSP00000241052:p.Val450Met			p.V450M	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	11	1437	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	450		A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.1348G>A	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902776	0.72754	.	.	ENSG00000121691	ENST00000241052	D	0.93019	-3.15	5.59	3.74	0.42951	5.59	3.74	0.42951	Catalase domain (1);Catalase-related immune responsive (1);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.83012	2.62	0.54753	D	0.999985	D	0.69078	0.997	D	0.65874	0.939	D	0.94654	0.7842	10	0.59425	D	0.04	-9.529	8.7832	0.34804	0.235:0.0:0.765:0.0	.	450	P04040	CATA_HUMAN	M	450	ENSP00000241052:V450M	ENSP00000241052:V450M	V	+	1	0	0	CAT	34446432	34446432	1.000000	0.71417	0.004000	0.12327	0.251000	0.25915	6.173000	0.71937	0.732000	0.32470	0.555000	0.69702	GTG		0.443	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2		192.715694	5	5	137	137	NM_001752		62	193.632774	193.632774	87	0.416107	0	0	0	1	0	62	87	0.416107	A	34489856	G	A	34489856	3	1	28	1	0	0	0	0	1	0	0	0	2686	1145	40	1	1390	1	CAT	11	34489856	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		34489856	100516660	15	518											
OR8A1	390275	broad.mit.edu	37	11	124440297	124440297	+	Silent	SNP	C	C	T	rs61748716	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr11:124440297C>T	ENST00000284287.3	+	1	405	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	111					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y111Y(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TCATCTCCTACGCAGGGTGCA	0.473													C|||	3	0.000599042	8e-04	0	5008	,	,		24672	0		0	False		,,,				2504	0.002					ENST00000284287.3											1	Substitution - coding silent(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(331-333)taC>taT	olfactory receptor, family 8, subfamily A, member 1	C		3,4399	6.2+/-15.9	0,3,2198	176	155	162		333	0.2	0.9	11	dbSNP_129	162	0,8598		0,0,4299	no	coding-synonymous	OR8A1	NM_001005194.1		0,3,6497	TT,TC,CC		0.0,0.0682,0.0231		111/327	124440297	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	390275			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440297C>T	BK004495	BK004495	CCDS31712.1	CCDS31712.1	11q24.2	2012-08-09			2012-08-09			ENSG00000196119	ENSG00000196119	ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8469	8469	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001005194	NM_001005194		Approved	OST025	uc010san.2	uc010san.2	Q8NGG7	Q8NGG7	OTTHUMG00000165923	OTTHUMG00000165923	ENST00000284287.3:c.333C>T	11.37:g.124440297C>T				p.Y111Y	NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	405	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	111		Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.333C>T	CCDS31712.1																																																																																									0.473	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1		112.391413	-13	-13	62	62	NM_001005194		36	112.708343	112.708343	47	0.433735	0	0	0	1	0	36	47	0.433735	T	124440297	C	T	124440297	2	4	28	1	0	0	0	0	0	0	0	1	11225	547	19	1		1	OR8A1	11	124440297	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	89950441	124440297	10566219	16	519											
NECAP1	25977	broad.mit.edu	37	12	8248277	8248277	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr12:8248277G>A	ENST00000339754.5	+	7	835	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	253					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TGACTTGTGGGGAGACTTCAG	0.428																																						ENST00000339754.5											0			cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(757-759)Gga>Aga	NECAP endocytosis associated 1						106	99	101					12																	8248277		2203	4300	6503	SO:0001583	missense	25977			endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8248277G>A	AK074923	AK074923	CCDS8589.1	CCDS8589.1	12p13.31	2012-05-02			2012-05-02			ENSG00000089818	ENSG00000089818	ENSG00000089818	ENSG00000089818				24539	24539	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611623	611623						14555962, 15494011	14555962, 15494011	Standard	Standard	NM_015509	NM_015509		Approved	DKFZP566B183	uc001qtx.2	uc001qtx.2	Q8NC96	Q8NC96	OTTHUMG00000168568	OTTHUMG00000168568	ENST00000339754.5:c.757G>A	12.37:g.8248277G>A	ENSP00000341737:p.Gly253Arg			p.G253R	NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	7	835	+			253		Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Missense_Mutation	SNP	ENST00000339754.5	37	c.757G>A	CCDS8589.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303159	0.81136	.	.	ENSG00000089818	ENST00000545179;ENST00000339754;ENST00000540291;ENST00000540083	T;T	0.50277	1.09;0.75	4.21	4.21	0.49690	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.78049	2.395	0.49798	D	0.999829	D	0.76494	0.999	D	0.74674	0.984	T	0.71397	-0.4605	10	0.87932	D	0	.	12.2748	0.54728	0.0:0.0:1.0:0.0	.	253	Q8NC96	NECP1_HUMAN	R	253;253;111;111	ENSP00000341737:G253R;ENSP00000439319:G111R	ENSP00000341737:G253R	G	+	1	0	0	NECAP1	8139544	8139544	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.809000	0.86057	2.330000	0.79161	0.585000	0.79938	GGA		0.428	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1		129.618408	4	4	96	96	NM_015509		42	131.353978	131.353978	72	0.368421	0	0	0	1	0	42	72	0.368421	A	8248277	G	A	8248277	3	1	28	1	0	0	0	0	1	0	0	0	10307	1233	43	3	783	3	NECAP1	12	8248277	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		8248277	125603618	17	520											
ATF7IP2	80063	broad.mit.edu	37	16	10524545	10524545	+	Missense_Mutation	SNP	G	G	A	rs150059548	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr16:10524545G>A	ENST00000396560.2	+	3	295	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R23Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						CTAAGTTGCCGGAAGCAAGTA	0.393																																						ENST00000396560.2											0			large_intestine(3)	3						c.(67-69)cGg>cAg	activating transcription factor 7 interacting protein 2	G	GLN/ARG	0,4394		0,0,2197	79	75	76		68	3.2	1	16	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ATF7IP2	NM_024997.2	43	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	23/683	10524545	3,12991	2197	4300	6497	SO:0001583	missense	80063			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524545G>A	AK022730	AK022730	CCDS10540.1, CCDS58422.1	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			2008-02-05			ENSG00000166669	ENSG00000166669	ENSG00000166669	ENSG00000166669				20397	20397	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613645	613645								Standard	Standard	NM_001256160	NM_001256160		Approved	FLJ12668	uc002czu.3	uc002czu.3	Q5U623	Q5U623	OTTHUMG00000129749	OTTHUMG00000129749	ENST00000396560.2:c.68G>A	16.37:g.10524545G>A	ENSP00000379808:p.Arg23Gln		ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000543967.1_Intron	p.R23Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			3	295	+			23		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.68G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695430	0.68386	0.0	3.49E-4	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.28069	1.63;1.63	5.25	3.23	0.37069	5.25	3.23	0.37069	.	0.323367	0.22643	N	0.057428	T	0.25344	0.0616	L	0.34521	1.04	0.25980	N	0.98238	D;D	0.61697	0.975;0.99	B;P	0.46718	0.427;0.525	T	0.05767	-1.0865	10	0.34782	T	0.22	-4.4003	8.8192	0.35016	0.1836:0.0:0.8164:0.0	.	23;23	Q5U623-2;Q5U623	.;MCAF2_HUMAN	Q	23	ENSP00000379808:R23Q;ENSP00000348799:R23Q	ENSP00000322811:R23Q	R	+	2	0	0	ATF7IP2	10432046	10432046	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.400000	0.44504	1.177000	0.42855	0.467000	0.42956	CGG		0.393	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1		-11.241027	-16	-16	55	55	NM_024997		3	6.429353	6.429353	74	0.038961	0	0	0	1	0	3	74	0.038961	A	10524545	G	A	10524545	3	1	28	1	0	0	0	0	1	0	0	0	1088	1116	39	1	70	1	ATF7IP2	16	10524545	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		10524545	79830208	18	521											
ALOX15	246	broad.mit.edu	37	17	4536775	4536775	+	Silent	SNP	T	T	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr17:4536775T>A	ENST00000570836.1	-	10	1278	c.1182A>T	c.(1180-1182)cgA>cgT	p.R394R	ALOX15_ENST00000293761.3_Silent_p.R394R|ALOX15_ENST00000574640.1_Silent_p.R355R|ALOX15_ENST00000545513.1_Silent_p.R416R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	394	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CCAGGGTGTATCGCAGGTGGG	0.537																																						ENST00000570836.1											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1180-1182)cgA>cgT	arachidonate 15-lipoxygenase						71	72	72					17																	4536775		2203	4300	6503	SO:0001819	synonymous_variant	246			inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4536775T>A	M23892	M23892	CCDS11049.1	CCDS11049.1	17p13.3	2010-09-24			2010-09-24			ENSG00000161905	ENSG00000161905	ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	"Arachidonate lipoxygenases"	433	433	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			152392	152392						1570320	1570320	Standard	Standard	NM_001140	NM_001140		Approved	15-LOX-1	uc002fyh.3	uc002fyh.3	P16050	P16050	OTTHUMG00000090746	OTTHUMG00000090746	ENST00000570836.1:c.1182A>T	17.37:g.4536775T>A			ALOX15_ENST00000574640.1_Silent_p.R355R|ALOX15_ENST00000545513.1_Silent_p.R416R|ALOX15_ENST00000293761.3_Silent_p.R394R	p.R394R			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	10	1278	-			394	Lipoxygenase.	A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1182A>T	CCDS11049.1																																																																																									0.537	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2		78.173666	-3	-3	91	91			31	83.684532	83.684532	84	0.269565	0	0	0	1	0	31	84	0.269565	A	4536775	T	A	4536775	2	1	28	1	0	0	0	0	0	0	0	1	538	1422	50	5		5	ALOX15	17	4536775	Silent	SNP	T	TCGA-V4-A9EZ-01A-11D-A39W-08		4536775	76658435	19	522											
SLFN11	91607	broad.mit.edu	37	17	33679640	33679640	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr17:33679640C>T	ENST00000394566.1	-	7	2713	c.2441G>A	c.(2440-2442)aGc>aAc	p.S814N	SLFN11_ENST00000308377.4_Missense_Mutation_p.S814N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	814					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTTGCGGTGCTGACAAGCAC	0.463																																						ENST00000394566.1											0			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(2440-2442)aGc>aAc	schlafen family member 11						126	111	116					17																	33679640		2203	4300	6503	SO:0001583	missense	91607				nucleus	ATP binding	g.chr17:33679640C>T	AK074184	AK074184	CCDS11294.1	CCDS11294.1	17q12	2006-04-05			2006-04-05			ENSG00000172716	ENSG00000172716	ENSG00000172716	ENSG00000172716				26633	26633	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614953	614953						12477932	12477932	Standard	Standard	NM_001104587	NM_001104587		Approved	FLJ34922	uc010ctr.3	uc010ctr.3	Q7Z7L1	Q7Z7L1	OTTHUMG00000132948	OTTHUMG00000132948	ENST00000394566.1:c.2441G>A	17.37:g.33679640C>T	ENSP00000378067:p.Ser814Asn		SLFN11_ENST00000308377.4_Missense_Mutation_p.S814N	p.S814N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2713	-		Ovarian(249;0.17)	814		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2441G>A	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	14.50	2.555243	0.45487	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.81908	-1.55;-1.55	4.0	2.99	0.34606	4.0	2.99	0.34606	.	0.111999	0.40302	N	0.001126	T	0.76069	0.3936	M	0.66939	2.045	0.09310	N	0.999999	P	0.49862	0.929	B	0.40009	0.316	T	0.65438	-0.6168	10	0.13470	T	0.59	.	8.8634	0.35272	0.2236:0.7764:0.0:0.0	.	814	Q7Z7L1	SLN11_HUMAN	N	814	ENSP00000312402:S814N;ENSP00000378067:S814N	ENSP00000312402:S814N	S	-	2	0	0	SLFN11	30703753	30703753	0.001000	0.12720	0.074000	0.20217	0.023000	0.10783	0.020000	0.13466	0.973000	0.38340	0.655000	0.94253	AGC		0.463	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1		65.336116	0	0	60	60	NM_152270		22	65.817938	65.817938	33	0.4	0	0	0	1	0	22	33	0.4	T	33679640	C	T	33679640	3	4	28	1	0	0	0	0	1	0	0	0	14733	797	28	2	268	2	SLFN11	17	33679640	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	29142865	33679640	47515570	20	523											
DSC1	1823	broad.mit.edu	37	18	28712574	28712574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr18:28712574delT	ENST00000257198.5	-	14	2456	c.2195delA	c.(2194-2196)aatfs	p.N732fs	RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_Frame_Shift_Del_p.N732fs	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	732					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACAATTAAATTTTGCTGGGC	0.343																																						ENST00000257197.3											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2194-2196)aatfs	desmocollin 1						161	156	158					18																	28712574		2202	4299	6501	SO:0001589	frameshift_variant	1823			homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28712574delT	AF293358	AF293358	CCDS11894.1, CCDS11895.1	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			2010-01-26			ENSG00000134765	ENSG00000134765	ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	"Cadherins / Major cadherins"	3035	3035	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			125643	125643						8486729	8486729	Standard	Standard	NM_024421	NM_024421		Approved	CDHF1	uc002kwn.3	uc002kwn.3	Q08554	Q08554	OTTHUMG00000131982	OTTHUMG00000131982	ENST00000257198.5:c.2195delA	18.37:g.28712574delT	ENSP00000257198:p.Asn732fs		DSC1_ENST00000257198.5_Frame_Shift_Del_p.N732fs|RP11-408H20.2_ENST00000581836.1_RNA	p.N732fs	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		14	2456	-			732		Q9HB01	Frame_Shift_Del	DEL	ENST00000257198.5	37	c.2195delA	CCDS11894.1																																																																																									0.343	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	.	.	-2	-2	86	86	NM_004948, NM_024421		30			55	0.35						30	55	0.35	-	28712574	T	-	28712574	7	5	28	1	0	1	0	1	0	0	0	0	4765	1493	52	0	541	0	DSC1	18	28712574	Frame_Shift_Del	DEL	T	TCGA-V4-A9EZ-01A-11D-A39W-08		28712574	49364674	21	524											
KANK3	256949	broad.mit.edu	37	19	8389559	8389559	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr19:8389559C>T	ENST00000593649.1	-	9	2303	c.2238G>A	c.(2236-2238)cgG>cgA	p.R746R	KANK3_ENST00000330915.3_Silent_p.R746R			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	746										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGAGCAGCAGCCGCACGGTGT	0.637																																						ENST00000330915.3											0			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2236-2238)cgG>cgA	KN motif and ankyrin repeat domains 3						58	54	55					19																	8389559		2203	4300	6503	SO:0001819	synonymous_variant	256949						g.chr19:8389559C>T	AK128815	AK128815	CCDS12199.1	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		ENSG00000186994		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	24796	24796	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614611	614611	"ankyrin repeat domain 47"	ANKRD47	"ankyrin repeat domain 47"	ANKRD47		17996375, 19554261	17996375, 19554261	Standard	Standard	NM_198471	NM_198471		Approved	FLJ46061	uc010dwa.3	uc010dwa.3	Q6NY19	Q6NY19			ENST00000593649.1:c.2238G>A	19.37:g.8389559C>T			KANK3_ENST00000593649.1_Silent_p.R746R	p.R746R	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			9	2303	-			746		Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37	c.2238G>A																																																																																										0.637	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1		75.632876	-4	-4	71	71	NM_198471		26	77.072878	77.072878	48	0.351351	0	0	0	1	0	26	48	0.351351	T	8389559	C	T	8389559	2	4	28	1	0	0	0	0	0	0	0	1	7978	726	26	2		2	KANK3	19	8389559	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		8389559	50739424	22	525											
OPA3	80207	broad.mit.edu	37	19	46056952	46056952	+	Silent	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr19:46056952G>A	ENST00000263275.4	-	2	414	c.360C>T	c.(358-360)aaC>aaT	p.N120N	OPA3_ENST00000544371.1_Silent_p.N67N|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	120					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CCCGCAGCGCGTTCCAGGCAG	0.721																																						ENST00000263275.4											0			cervix(1)|large_intestine(1)|lung(2)	4						c.(358-360)aaC>aaT	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)						13	15	14					19																	46056952		2187	4281	6468	SO:0001819	synonymous_variant	80207			response to stimulus|visual perception	mitochondrion		g.chr19:46056952G>A	AK025840	AK025840	CCDS12668.1, CCDS33052.1	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28			2014-01-28				ENSG00000125741		ENSG00000125741				8142	8142	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606580	606580						9097959, 11668429	9097959, 11668429	Standard	Standard	NM_001017989	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	uc002pcj.4	Q9H6K4	Q9H6K4			ENST00000263275.4:c.360C>T	19.37:g.46056952G>A			OPA3_ENST00000544371.1_Silent_p.N67N|OPA3_ENST00000323060.3_Intron	p.N120N	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	414	-		Ovarian(192;0.051)|all_neural(266;0.112)	120		Q6P384|Q8N784	Silent	SNP	ENST00000263275.4	37	c.360C>T	CCDS12668.1																																																																																									0.721	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1		0.298423	-4	-4	20	20			3	6.38983	6.38983	32	0.085714	0	0	0	1	0	3	32	0.085714	A	46056952	G	A	46056952	2	1	28	1	0	0	0	0	0	0	0	1	10872	1136	40	1		1	OPA3	19	46056952	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08	37667393	46056952	13072031	23	526											
TGM2	7052	broad.mit.edu	37	20	36760851	36760851	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr20:36760851G>A	ENST00000361475.2	-	11	1840	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M	TGM2_ENST00000536724.1_Missense_Mutation_p.T496M|TGM2_ENST00000536701.1_Missense_Mutation_p.T475M	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	556					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GTTGGACTCCGTAAGGCAGTC	0.542																																						ENST00000361475.2											0			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1666-1668)aCg>aTg	transglutaminase 2						189	189	189					20																	36760851		2203	4300	6503	SO:0001583	missense	7052			apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36760851G>A	M98478	M98478	CCDS13302.1	CCDS13302.1	20q12	2013-05-02	2013-05-02		2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	"Transglutaminases"	11778	11778	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"		"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	7912692, 11390390	Standard	Standard	NM_004613	NM_004613		Approved	TGC	uc002xhr.3	uc002xhr.3	P21980	P21980	OTTHUMG00000032437	OTTHUMG00000032437	ENST00000361475.2:c.1667C>T	20.37:g.36760851G>A	ENSP00000355330:p.Thr556Met		TGM2_ENST00000536701.1_Missense_Mutation_p.T475M|TGM2_ENST00000536724.1_Missense_Mutation_p.T496M	p.T556M	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			11	1840	-		Myeloproliferative disorder(115;0.00878)	556		E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.1667C>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108868	0.37242	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.69435	-0.4;-0.4;-0.4	4.67	3.65	0.41850	4.67	3.65	0.41850	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.169666	0.50627	D	0.000105	T	0.80454	0.4626	M	0.77820	2.39	0.53005	D	0.999965	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	T	0.82030	-0.0659	10	0.51188	T	0.08	-33.9145	13.7475	0.62883	0.0:0.0:0.8466:0.1534	.	496;475;496;556	F5H6P0;B4DIT7;B4DTN7;P21980	.;.;.;TGM2_HUMAN	M	556;475;496	ENSP00000355330:T556M;ENSP00000444701:T475M;ENSP00000437479:T496M	ENSP00000355330:T556M	T	-	2	0	0	TGM2	36194265	36194265	1.000000	0.71417	0.444000	0.26895	0.017000	0.09413	5.454000	0.66651	2.296000	0.77279	0.561000	0.74099	ACG		0.542	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2		-57.321325	-25	-25	255	255	NM_198951		4	6.381925	6.381925	237	0.016598	0	0	0	1	0	4	237	0.016598	A	36760851	G	A	36760851	3	1	28	1	0	0	0	0	1	0	0	0	15827	1145	40	1	408	1	TGM2	20	36760851	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		36760851	26264669	24	527											
CDH4	1002	broad.mit.edu	37	20	60511888	60511888	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr20:60511888G>A	ENST00000360469.5	+	16	2726	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I	CDH4_ENST00000543233.1_Missense_Mutation_p.V806I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	880	Ser-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V880I(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGCAGGCTCCGTCAGCTCCCT	0.632																																						ENST00000360469.5											1	Substitution - Missense(1)	endometrium(1)	NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2638-2640)Gtc>Atc	cadherin 4, type 1, R-cadherin (retinal)						58	50	53					20																	60511888		2203	4300	6503	SO:0001583	missense	1002			adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511888G>A	L34059	L34059	CCDS13488.1, CCDS58784.1	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			2010-01-26			ENSG00000179242	ENSG00000179242	ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	"Cadherins / Major cadherins"	1763	1763	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"R-Cadherin"	"R-Cadherin"	603006	603006						10191097, 10516427	10191097, 10516427	Standard	Standard	NM_001794	NM_001794		Approved		uc002ybn.2	uc002ybn.2	P55283	P55283	OTTHUMG00000032890	OTTHUMG00000032890	ENST00000360469.5:c.2638G>A	20.37:g.60511888G>A	ENSP00000353656:p.Val880Ile		CDH4_ENST00000543233.1_Missense_Mutation_p.V806I	p.V880I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2726	+			880	Ser-rich.	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2638G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564639	0.27915	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.77229	-1.08;-1.08	4.49	4.49	0.54785	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	N	0.05592	-0.015	0.58432	D	0.99999	D	0.89917	1.0	D	0.79784	0.993	T	0.77140	-0.2697	9	.	.	.	.	17.1925	0.86883	0.0:0.0:1.0:0.0	.	880	P55283	CADH4_HUMAN	I	880;788;806	ENSP00000353656:V880I;ENSP00000443301:V806I	.	V	+	1	0	0	CDH4	59945283	59945283	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.283000	0.51701	2.068000	0.61886	0.467000	0.42956	GTC		0.632	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		1.206997	-8	-8	32	32	NM_001794		3	6.510932	6.510932	29	0.09375	0	0	0	1	0	3	29	0.09375	A	60511888	G	A	60511888	3	1	28	1	0	0	0	0	1	0	0	0	3112	1145	40	1	2700	1	CDH4	20	60511888	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08	23751037	60511888	2513632	25	528											
ZNF295	49854	broad.mit.edu	37	21	43411430	43411430	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr21:43411430C>T	ENST00000310826.5	-	3	2958	c.2775G>A	c.(2773-2775)gaG>gaA	p.E925E	ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398499.1_Silent_p.E925E|ZBTB21_ENST00000398511.3_Silent_p.E925E|ZBTB21_ENST00000398505.3_Silent_p.E724E	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	925					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CCTGGTGACGCTCCAGCTGCT	0.527																																						ENST00000310826.5											0										c.(2773-2775)gaG>gaA	zinc finger and BTB domain containing 21						79	74	75					21																	43411430		2203	4300	6503	SO:0001819	synonymous_variant	49854						g.chr21:43411430C>T	AB033053	AB033053	CCDS13678.1, CCDS42934.1	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	13083	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger protein 295"	ZNF295	"zinc finger protein 295"	ZNF295				Standard	Standard	NM_020727	NM_020727		Approved	KIAA1227	uc002yzy.4	uc002yzy.4	Q9ULJ3	Q9ULJ3	OTTHUMG00000086789	OTTHUMG00000086789	ENST00000310826.5:c.2775G>A	21.37:g.43411430C>T			ZBTB21_ENST00000398499.1_Silent_p.E925E|ZBTB21_ENST00000398505.3_Silent_p.E724E|ZBTB21_ENST00000398511.3_Silent_p.E925E	p.E925E	NM_001098402.1	NP_001091872.1					3	2958	-					Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	37	c.2775G>A	CCDS13678.1																																																																																									0.527	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1		65.664890	9	9	66	66	NM_020727		24	68.821898	68.821898	58	0.292683	0	0	0	1	0	24	58	0.292683	T	43411430	C	T	43411430	2	4	28	1	0	0	0	0	0	0	0	1	17824	796	28	2		2	ZNF295	21	43411430	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		43411430	4718465	26	529											
SERPIND1	3053	broad.mit.edu	37	22	21134429	21134429	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr22:21134429G>C	ENST00000215727.5	+	2	1112	c.829G>C	c.(829-831)Gct>Cct	p.A277P	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.A277P|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	277					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CATAAAAGATGCTCTGGAGAA	0.453																																						ENST00000215727.5											0			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(829-831)Gct>Cct	serpin peptidase inhibitor, clade D (heparin cofactor), member 1						188	194	192					22																	21134429		2203	4300	6503	SO:0001583	missense	3053			blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134429G>C	M12849	M12849	CCDS13783.1	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937	ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	"Serine (or cysteine) peptidase inhibitors"	4838	4838	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"heparin cofactor II"	"heparin cofactor II"	142360	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	1671335, 24172014	Standard	Standard	XM_005261597	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	uc002ztb.1	P05546	P05546	OTTHUMG00000150755	OTTHUMG00000150755	ENST00000215727.5:c.829G>C	22.37:g.21134429G>C	ENSP00000215727:p.Ala277Pro		PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.A277P	p.A277P	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	1112	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	277		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.829G>C	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212926	0.79352	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.84660	-1.88;-1.88	5.97	5.97	0.96955	5.97	5.97	0.96955	Serpin domain (3);	0.048266	0.85682	D	0.000000	T	0.78027	0.4219	N	0.16903	0.455	0.58432	D	0.999997	B;B	0.19200	0.034;0.034	B;B	0.18263	0.021;0.021	T	0.69935	-0.5010	10	0.33940	T	0.23	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	277;277	Q8IVC0;P05546	.;HEP2_HUMAN	P	277	ENSP00000215727:A277P;ENSP00000384050:A277P	ENSP00000215727:A277P	A	+	1	0	0	SERPIND1	19464429	19464429	1.000000	0.71417	0.132000	0.22025	0.996000	0.88848	5.161000	0.64935	2.837000	0.97791	0.655000	0.94253	GCT		0.453	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1		472.313193	-18	-18	271	271	NM_000185		143	472.349616	472.349616	150	0.488055	0	0	0	1	0	143	150	0.488055	C	21134429	G	C	21134429	3	2	28	1	0	0	0	0	1	0	0	0	14110	1319	46	5	831	5	SERPIND1	22	21134429	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		21134429	30170137	27	530											
APEX2	27301	broad.mit.edu	37	X	55033295	55033295	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chrX:55033295C>A	ENST00000374987.3	+	6	1050	c.984C>A	c.(982-984)ttC>ttA	p.F328L	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	328					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCACCCGCTTCCTCCCTGAGT	0.572								Other BER factors																														ENST00000374987.3											0			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(982-984)ttC>ttA	APEX nuclease (apurinic/apyrimidinic endonuclease) 2						54	46	49					X																	55033295		2203	4300	6503	SO:0001583	missense	27301			cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033295C>A	AB021260	AB021260	CCDS14365.1	CCDS14365.1	Xp11.23	2014-02-18			2014-02-18			ENSG00000169188	ENSG00000169188	ENSG00000169188	ENSG00000169188	4.2.99.18			17889	17889	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 2"	"zinc finger, GRF-type containing 2"	300773	300773						11376153	11376153	Standard	Standard	NM_014481	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	uc004dtz.4	Q9UBZ4	Q9UBZ4	OTTHUMG00000021642	OTTHUMG00000021642	ENST00000374987.3:c.984C>A	X.37:g.55033295C>A	ENSP00000364126:p.Phe328Leu			p.F328L	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN			6	1050	+			328		Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.984C>A	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537810	0.45176	.	.	ENSG00000169188	ENST00000374987	T	0.59906	0.23	4.59	2.8	0.32819	4.59	2.8	0.32819	.	0.290985	0.39407	N	0.001375	T	0.45756	0.1358	L	0.57536	1.79	0.34077	D	0.659111	B	0.23316	0.083	B	0.21917	0.037	T	0.45760	-0.9239	10	0.11794	T	0.64	-10.8261	6.791	0.23699	0.0:0.6903:0.0:0.3097	.	328	Q9UBZ4	APEX2_HUMAN	L	328	ENSP00000364126:F328L	ENSP00000364126:F328L	F	+	3	2	2	APEX2	55050020	55050020	1.000000	0.71417	0.955000	0.39395	0.870000	0.49936	0.696000	0.25541	1.029000	0.39812	0.600000	0.82982	TTC		0.572	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1		40.006281	-12	-12	44	44			15	41.94015	41.94015	36	0.294118	1	0	3.27435e-08	1	3.44227e-08	15	36	0.294118	A	55033295	C	A	55033295	3	1	28	1	0	0	0	0	1	0	0	0	770	854	30	5	1006	5	APEX2	23	55033295	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		55033295	100237265	28	531											
ARHGAP4	393	broad.mit.edu	37	X	153175798	153175798	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chrX:153175798C>T	ENST00000350060.5	-	17	2024	c.1983G>A	c.(1981-1983)ggG>ggA	p.G661G	ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Silent_p.G638G|ARHGAP4_ENST00000370016.1_Silent_p.G640G|ARHGAP4_ENST00000370028.3_Silent_p.G701G|ARHGAP4_ENST00000393721.1_Silent_p.G483G	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	661	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCGTGGGCCCGAAGCACA	0.672																																						ENST00000370028.3											0			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2101-2103)ggG>ggA	Rho GTPase activating protein 4						21	22	21					X																	153175798		2203	4298	6501	SO:0001819	synonymous_variant	393			apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153175798C>T	X78817	X78817	CCDS14736.1, CCDS55540.1	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			2010-02-09			ENSG00000089820	ENSG00000089820	ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	"Rho GTPase activating proteins"	674	674	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	"Rho-GAP hematopoietic protein C1"	300023	300023						8570618	8570618	Standard	Standard	NM_001666	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	uc004fjk.2	P98171	P98171	OTTHUMG00000024226	OTTHUMG00000024226	ENST00000350060.5:c.1983G>A	X.37:g.153175798C>T			ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000393721.1_Silent_p.G483G|ARHGAP4_ENST00000350060.5_Silent_p.G661G|ARHGAP4_ENST00000370016.1_Silent_p.G640G|ARHGAP4_ENST00000537206.1_Silent_p.G638G	p.G701G	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			18	2160	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		661		Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.2103G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642969	0.14451	.	.	ENSG00000089820	ENST00000442172	T	0.14391	2.51	4.68	3.8	0.43715	4.68	3.8	0.43715	.	0.000000	0.41712	D	0.000835	T	0.19525	0.0469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01869	-1.1257	7	0.87932	D	0	.	3.8697	0.09031	0.0:0.5829:0.2064:0.2107	.	.	.	.	D	150	ENSP00000408656:G150D	ENSP00000408656:G150D	G	-	2	0	0	ARHGAP4	152828992	152828992	0.997000	0.39634	0.975000	0.42487	0.534000	0.34807	0.428000	0.21395	1.918000	0.55548	0.592000	0.82586	GGC		0.672	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1		71.523974	-24	-24	35	35	NM_001666		23	71.528555	71.528555	24	0.489362	0	0	0	1	0	23	24	0.489362	T	153175798	C	T	153175798	2	4	28	1	0	0	0	0	0	0	0	1	885	726	26	2		2	ARHGAP4	23	153175798	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	98142503	153175798	2094762	29	532											
GNB1	2782	broad.mit.edu	37	1	1718829	1718829	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr1:1718829C>G	ENST00000378609.4	-	11	1295	c.964G>C	c.(964-966)Gac>Cac	p.D322H		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	322					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		ATGCCATCGTCAGTCACGCCC	0.567																																						ENST00000378609.4											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(964-966)Gac>Cac	guanine nucleotide binding protein (G protein), beta polypeptide 1						108	95	100					1																	1718829		2203	4300	6503	SO:0001583	missense	2782			cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1718829C>G	BC004186	BC004186	CCDS34.1, CCDS72685.1	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			2013-01-10			ENSG00000078369	ENSG00000078369	ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	"WD repeat domain containing"	4396	4396	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139380	139380								Standard	Standard	NM_002074	NM_002074		Approved		uc001aif.3	uc001aif.3	P62873	P62873	OTTHUMG00000000940	OTTHUMG00000000940	ENST00000378609.4:c.964G>C	1.37:g.1718829C>G	ENSP00000367872:p.Asp322His			p.D322H	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	11	1295	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	322		B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.964G>C	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485217	0.84854	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606	T	0.60040	0.22	5.74	4.84	0.62591	5.74	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045379	0.85682	D	0.000000	T	0.53722	0.1814	N	0.20401	0.57	0.80722	D	1	P	0.39443	0.674	P	0.48552	0.581	T	0.59815	-0.7383	10	0.72032	D	0.01	-20.8821	13.7624	0.62975	0.0:0.9266:0.0:0.0734	.	322	P62873	GBB1_HUMAN	H	322;222;322	ENSP00000367872:D322H	ENSP00000367869:D322H	D	-	1	0	0	GNB1	1708689	1708689	1.000000	0.71417	0.397000	0.26308	0.892000	0.51952	7.600000	0.82769	1.444000	0.47605	0.561000	0.74099	GAC		0.567	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3		38.661183	-1	-1	86	86	NM_002074		13	39.748205	39.748205	27	0.325	0	0	0	1	0	13	27	0.325	G	1718829	C	G	1718829	3	3	29	1	0	0	0	0	1	0	0	0	6515	826	29	5	62	5	GNB1	1	1718829	Missense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		1718829	247531792	1	533											
TRIM67	440730	broad.mit.edu	37	1	231299743	231299743	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr1:231299743T>C	ENST00000366653.5	+	1	1028	c.1028T>C	c.(1027-1029)aTg>aCg	p.M343T	TRIM67_ENST00000444294.3_Missense_Mutation_p.M343T|TRIM67_ENST00000449018.3_Missense_Mutation_p.M281T|TRIM67_ENST00000366652.2_Missense_Mutation_p.M343T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	343					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTGGGGGCCATGTGGAAGCAG	0.627																																						ENST00000444294.3											0			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1027-1029)aTg>aCg	tripartite motif containing 67						13	15	15					1																	231299743		2043	4186	6229	SO:0001583	missense	440730				cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231299743T>C	AK126782	AK126782	CCDS44333.1, CCDS73048.1	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283	ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	31859	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610584	610584	"tripartite motif-containing 67"		"tripartite motif-containing 67"					Standard	Standard	NM_001004342	NM_001004342		Approved	TNL	uc009xfn.1	uc009xfn.1	Q6ZTA4	Q6ZTA4	OTTHUMG00000037958	OTTHUMG00000037958	ENST00000366653.5:c.1028T>C	1.37:g.231299743T>C	ENSP00000355613:p.Met343Thr		TRIM67_ENST00000449018.3_Missense_Mutation_p.M281T|TRIM67_ENST00000366652.2_Missense_Mutation_p.M343T|TRIM67_ENST00000366653.5_Missense_Mutation_p.M343T	p.M343T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			1	1886	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	343		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1028T>C	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.724198	0.30593	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.72	3.61	0.41365	4.72	3.61	0.41365	.	0.277517	0.42420	N	0.000720	T	0.41119	0.1145	L	0.45581	1.43	0.42088	D	0.991287	B	0.25563	0.129	B	0.23419	0.046	T	0.19031	-1.0318	10	0.24483	T	0.36	.	7.9114	0.29793	0.0:0.1096:0.0:0.8904	.	343	Q6ZTA4	TRI67_HUMAN	T	343;343;281;343	ENSP00000412124:M343T;ENSP00000355612:M343T;ENSP00000400163:M281T;ENSP00000355613:M343T	ENSP00000355612:M343T	M	+	2	0	0	TRIM67	229366366	229366366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.499000	0.60380	0.846000	0.35142	0.459000	0.35465	ATG		0.627	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3		7.720212	0	0	14	14	NM_001004342		3	8.232311	8.232311	8	0.272727	0	0	0	1	0	3	8	0.272727	C	231299743	T	C	231299743	3	2	29	1	0	0	0	0	1	0	0	0	16537	1464	51	4	1030	4	TRIM67	1	231299743	Missense_Mutation	SNP	T	TCGA-V4-A9F0-01A-11D-A39W-08	229580914	231299743	17950878	2	534											
PKP4	8502	broad.mit.edu	37	2	159499162	159499162	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr2:159499162G>C	ENST00000389759.3	+	11	1972	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	PKP4_ENST00000389757.3_Missense_Mutation_p.L620F	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	620					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CTGCCTTGTTGCGACTGTTGA	0.413										HNSCC(62;0.18)																												ENST00000389757.3											0			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(1858-1860)ttG>ttC	plakophilin 4						160	161	161					2																	159499162		2203	4300	6503	SO:0001583	missense	8502			cell adhesion	desmosome	protein binding	g.chr2:159499162G>C	X81889	X81889	CCDS33305.1, CCDS33306.1	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			2013-02-14			ENSG00000144283	ENSG00000144283	ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	"Armadillo repeat containing"	9026	9026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604276	604276						9342840, 8937994	9342840, 8937994	Standard	Standard	NM_003628	NM_003628		Approved	p0071	uc002tzv.3	uc002tzv.3	Q99569	Q99569	OTTHUMG00000153969	OTTHUMG00000153969	ENST00000389759.3:c.1860G>C	2.37:g.159499162G>C	ENSP00000374409:p.Leu620Phe		PKP4_ENST00000389759.3_Missense_Mutation_p.L620F	p.L620F	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			11	1985	+			620		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.1860G>C	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663943	0.47572	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.71817	-0.6;-0.6	5.87	4.07	0.47477	5.87	4.07	0.47477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80518	0.4638	M	0.74881	2.28	0.52501	D	0.999951	D;D;D;B;D	0.76494	0.999;0.999;0.999;0.218;0.999	D;D;D;B;D	0.81914	0.995;0.988;0.968;0.211;0.989	T	0.80013	-0.1560	10	0.48119	T	0.1	-5.9841	8.015	0.30376	0.3289:0.0:0.6711:0.0	.	472;575;620;620;471	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	F	471;620;620	ENSP00000374407:L620F;ENSP00000374409:L620F	ENSP00000374407:L620F	L	+	3	2	2	PKP4	159207408	159207408	0.561000	0.26578	1.000000	0.80357	0.988000	0.76386	0.093000	0.15086	1.478000	0.48253	0.655000	0.94253	TTG		0.413	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		-8.234492	9	9	99	99			3	6.61391	6.61391	64	0.044776	0	0	0	1	0	3	64	0.044776	C	159499162	G	C	159499162	3	2	29	1	0	0	0	0	1	0	0	0	11987	1310	46	5	1898	5	PKP4	2	159499162	Missense_Mutation	SNP	G	TCGA-V4-A9F0-01A-11D-A39W-08		159499162	83700211	3	535											
BAP1	8314	hgsc.bcm.edu	37	3	52437791	52437791	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr3:52437791T>C	ENST00000460680.1	-	13	1841	c.1370A>G	c.(1369-1371)aAg>aGg	p.K457R	BAP1_ENST00000296288.5_Missense_Mutation_p.K439R	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGAGAGGTCCTTCTGGGACTC	0.597			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0																	76	78	77					3																	52437791		2203	4300	6503	SO:0001583	missense	8314							AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1370A>G	3.37:g.52437791T>C	ENSP00000417132:p.Lys457Arg																	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37		CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986900	0.35036	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61158	0.17;0.13	6.05	6.05	0.98169	6.05	6.05	0.98169	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.152572	0.64402	D	0.000015	T	0.38585	0.1046	N	0.12182	0.205	0.48341	D	0.999633	B	0.21753	0.06	B	0.17433	0.018	T	0.27434	-1.0074	10	0.38643	T	0.18	.	10.8637	0.46842	0.0:0.0697:0.0:0.9303	.	457	Q92560	BAP1_HUMAN	R	457;439	ENSP00000417132:K457R;ENSP00000296288:K439R	ENSP00000296288:K439R	K	-	2	0	0	BAP1	52412831	52412831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.355000	0.52262	2.323000	0.78572	0.533000	0.62120	AAG		0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			-7	-7	49	49			20			3							20	3		C	52437791	T	C	52437791	3	2	29	1	0	0	0	0	1	0	0	0	1311	1609	56	4	839	4	BAP1	3	52437791	Missense_Mutation	SNP	T	TCGA-V4-A9F0-01A-11D-A39W-08		52437791	145584639	4	536	8	2									
BAP1	8314	broad.mit.edu	37	3	52437795	52437795	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr3:52437795delG	ENST00000460680.1	-	13	1837	c.1366delC	c.(1366-1368)cagfs	p.Q456fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.Q438fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGGTCCTTCTGGGACTCTTTG	0.597			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1366-1368)cagfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						77	79	78					3																	52437795		2203	4300	6503	SO:0001589	frameshift_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437795delG	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1366delC	3.37:g.52437795delG	ENSP00000417132:p.Gln456fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.Q438fs	p.Q456fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1837	-			456		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.1366delC	CCDS2853.1																																																																																									0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	-9	-9	47	47			20			4	0.83						20	4	0.83	-	52437795	G	-	52437795	7	5	29	1	0	1	0	1	0	0	0	0	1311	1357	47	0	843	0	BAP1	3	52437795	Frame_Shift_Del	DEL	G	TCGA-V4-A9F0-01A-11D-A39W-08	4	52437795	145584635	5	537	8	2									
AP2M1	1173	broad.mit.edu	37	3	183894841	183894841	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr3:183894841delC	ENST00000292807.5	+	2	208	c.60delC	c.(58-60)tacfs	p.Y20fs	AP2M1_ENST00000439647.1_Frame_Shift_Del_p.Y20fs|AP2M1_ENST00000411763.2_Frame_Shift_Del_p.Y20fs|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Frame_Shift_Del_p.Y20fs	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGAGTCTACCGAGATGACA	0.587																																						ENST00000382456.3											0			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(58-60)tacfs	adaptor-related protein complex 2, mu 1 subunit						40	45	43					3																	183894841		2021	4190	6211	SO:0001589	frameshift_variant	1173			axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183894841delC	U36188	U36188	CCDS43177.1, CCDS43178.1	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			2008-07-18			ENSG00000161203	ENSG00000161203	ENSG00000161203	ENSG00000161203				564	564	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024	601024		CLAPM1		CLAPM1		8595912	8595912	Standard	Standard	NM_004068	NM_004068		Approved	AP50, mu2	uc003fmw.3	uc003fmw.3	Q96CW1	Q96CW1	OTTHUMG00000156822	OTTHUMG00000156822	ENST00000292807.5:c.60delC	3.37:g.183894841delC	ENSP00000292807:p.Tyr20fs		AP2M1_ENST00000292807.5_Frame_Shift_Del_p.Y20fs|AP2M1_ENST00000439647.1_Frame_Shift_Del_p.Y20fs|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Frame_Shift_Del_p.Y20fs	p.Y20fs	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	374	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		20		A6NE12|D3DNT1|P20172|P53679	Frame_Shift_Del	DEL	ENST00000292807.5	37	c.60delC	CCDS43177.1																																																																																									0.587	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	.	.	3	3	23	23	NM_004068		2			4	0.33						2	4	0.33	-	183894841	C	-	183894841	7	5	29	1	0	1	0	1	0	0	0	0	742	518	18	0	62	0	AP2M1	3	183894841	Frame_Shift_Del	DEL	C	TCGA-V4-A9F0-01A-11D-A39W-08	131457046	183894841	14127589	6	538											
TNIP1	10318	broad.mit.edu	37	5	150411884	150411884	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr5:150411884C>G	ENST00000389378.2	-	17	2428	c.1840G>C	c.(1840-1842)Gtg>Ctg	p.V614L	TNIP1_ENST00000523200.1_Missense_Mutation_p.V550L|TNIP1_ENST00000521591.1_Missense_Mutation_p.V614L|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000518977.1_Missense_Mutation_p.V614L|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000520931.1_Missense_Mutation_p.V561L|TNIP1_ENST00000522226.1_Missense_Mutation_p.V614L|TNIP1_ENST00000315050.7_Missense_Mutation_p.V614L|TNIP1_ENST00000523338.1_Missense_Mutation_p.V614L	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	614	Pro-rich.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCCATCACTTGGGAGCTC	0.517																																						ENST00000389378.2											0			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1840-1842)Gtg>Ctg	TNFAIP3 interacting protein 1						99	92	94					5																	150411884		2203	4300	6503	SO:0001583	missense	10318			defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150411884C>G	AJ011895	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18			2008-07-18										16903	16903	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714	607714						9923610, 11090181	9923610, 11090181	Standard	Standard	NM_001252385	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	uc003ltj.3	Q15025	Q15025			ENST00000389378.2:c.1840G>C	5.37:g.150411884C>G	ENSP00000374029:p.Val614Leu		TNIP1_ENST00000520931.1_Missense_Mutation_p.V561L|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000315050.7_Missense_Mutation_p.V614L|TNIP1_ENST00000522226.1_Missense_Mutation_p.V614L|TNIP1_ENST00000518977.1_Missense_Mutation_p.V614L|TNIP1_ENST00000523200.1_Missense_Mutation_p.V550L|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000521591.1_Missense_Mutation_p.V614L|TNIP1_ENST00000523338.1_Missense_Mutation_p.V614L	p.V614L	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2428	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	614	Pro-rich.	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.1840G>C	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314889	0.40996	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000523200	T;T;T;T;T;T;T;T	0.15256	2.44;2.47;2.47;2.45;2.47;2.47;2.45;2.48	3.83	2.95	0.34219	3.83	2.95	0.34219	.	0.429335	0.23416	N	0.048402	T	0.21921	0.0528	M	0.63428	1.95	0.21064	N	0.999797	B;B;P;P	0.50443	0.122;0.122;0.849;0.935	B;B;P;P	0.48334	0.081;0.081;0.477;0.574	T	0.06285	-1.0835	10	0.38643	T	0.18	-18.1186	8.1111	0.30916	0.0:0.7433:0.1598:0.0969	.	504;550;614;614	A4F1X7;E7ET96;A4F1W9;Q15025	.;.;.;TNIP1_HUMAN	L	561;614;614;614;507;576;614;614;614;550	ENSP00000429891:V561L;ENSP00000374029:V614L;ENSP00000317891:V614L;ENSP00000428243:V614L;ENSP00000428187:V614L;ENSP00000430760:V614L;ENSP00000430971:V614L;ENSP00000431105:V550L	ENSP00000317891:V614L	V	-	1	0	0	TNIP1	150392077	150392077	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	1.468000	0.35332	0.589000	0.29677	-1.134000	0.01955	GTG		0.517	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1		46.449692	-14	-14	29	29	NM_006058		14	46.457141	46.457141	15	0.482759	0	0	0	1	0	14	15	0.482759	G	150411884	C	G	150411884	3	3	29	1	0	0	0	0	1	0	0	0	16311	565	20	5	78	5	TNIP1	5	150411884	Missense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		150411884	30503376	7	539											
KCNV1	27012	broad.mit.edu	37	8	110984746	110984746	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr8:110984746G>C	ENST00000524391.1	-	3	1764	c.732C>G	c.(730-732)atC>atG	p.I244M	KCNV1_ENST00000297404.1_Missense_Mutation_p.I244M|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	244					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CATACTCCAGGATTTCCAGCA	0.522																																						ENST00000524391.1											0			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(730-732)atC>atG	potassium channel, subfamily V, member 1						75	68	71					8																	110984746		2203	4300	6503	SO:0001583	missense	27012				voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984746G>C	AF167082	AF167082	CCDS6314.1	CCDS6314.1	8q23.2	2011-07-05			2011-07-05				ENSG00000164794		ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	18861	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608164	608164						8670833, 16382104	8670833, 16382104	Standard	Standard	NM_014379	NM_014379		Approved	Kv8.1	uc003ynr.4	uc003ynr.4	Q6PIU1	Q6PIU1			ENST00000524391.1:c.732C>G	8.37:g.110984746G>C	ENSP00000435954:p.Ile244Met		KCNV1_ENST00000297404.1_Missense_Mutation_p.I244M	p.I244M			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1764	-	all_neural(195;0.219)		244		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.732C>G	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485236	0.26598	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98792	-5.14;-5.14	5.55	2.75	0.32379	5.55	2.75	0.32379	Ion transport (1);	0.435059	0.23896	N	0.043493	D	0.96706	0.8925	L	0.49513	1.565	0.31001	N	0.720293	B	0.32425	0.371	B	0.39119	0.291	D	0.94230	0.7475	10	0.23302	T	0.38	.	8.0752	0.30712	0.3116:0.0:0.6884:0.0	.	244	Q6PIU1	KCNV1_HUMAN	M	244;244;120	ENSP00000435954:I244M;ENSP00000297404:I244M	ENSP00000297404:I244M	I	-	3	3	3	KCNV1	111053922	111053922	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.981000	0.29526	0.682000	0.31407	0.557000	0.71058	ATC		0.522	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1		64.332866	-19	-19	47	47	NM_014379		22	66.898657	66.898657	51	0.30137	0	0	0	1	0	22	51	0.30137	C	110984746	G	C	110984746	3	2	29	1	0	0	0	0	1	0	0	0	8094	1164	41	5	778	5	KCNV1	8	110984746	Missense_Mutation	SNP	G	TCGA-V4-A9F0-01A-11D-A39W-08		110984746	35379276	8	540											
TYRP1	7306	broad.mit.edu	37	9	12704605	12704606	+	Frame_Shift_Ins	INS	-	-	GG	rs368775669		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr9:12704605_12704606insGG	ENST00000388918.5	+	6	1290_1291	c.1161_1162insGG	c.(1162-1164)gggfs	p.G388fs	TYRP1_ENST00000381137.2_Frame_Shift_Ins_p.G97fs|TYRP1_ENST00000381136.2_Frame_Shift_Ins_p.G98fs|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	388					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G388W(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TGAATGGAACAGGGGGACAAAC	0.465									Oculocutaneous Albinism																													ENST00000388918.5											1	Substitution - Missense(1)	lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(1162-1164)gggfs	tyrosinase-related protein 1																																			SO:0001589	frameshift_variant	7306	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12704605_12704606insGG	L33830	L33830	CCDS34990.1	CCDS34990.1	9p23	2013-01-08			2013-01-08			ENSG00000107165	ENSG00000107165	ENSG00000107165	ENSG00000107165				12450	12450	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			115501	115501		TYRP, CAS2		TYRP, CAS2		9434945	9434945	Standard	Standard	NM_000550	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	uc003zkv.4	P17643	P17643	OTTHUMG00000021034	OTTHUMG00000021034	ENST00000388918.5:c.1164_1165dupGG	9.37:g.12704608_12704609dupGG	ENSP00000373570:p.Gly388fs		TYRP1_ENST00000381136.2_Frame_Shift_Ins_p.G98fs|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Frame_Shift_Ins_p.G97fs	p.G388fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	6	1290_1291	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	388		P78468|P78469|Q13721|Q15679	Frame_Shift_Ins	INS	ENST00000388918.5	37	c.1161_1162insGG	CCDS34990.1																																																																																									0.465	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	.	.	12	12	93	93	NM_000550		22			70	0.23						22	70	0.23	GG	12704606	-	GG	12704605	7	5	29	1	0	1	1	0	0	0	0	0	16813	175	7	0	1179	0	TYRP1	9	12704605	Frame_Shift_Ins	INS	-	TCGA-V4-A9F0-01A-11D-A39W-08		12704605	128508826	9	541											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		105.765010	6	6	118	118	NM_002072		33	106.107274	106.107274	44	0.428571	0	0	0	1	0	33	44	0.428571	A	80409488	T	A	80409488	3	1	29	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9F0-01A-11D-A39W-08	67704883	80409488	60803943	10	542											
UBE2N	7334	broad.mit.edu	37	12	93804623	93804623	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr12:93804623C>T	ENST00000318066.2	-	3	682	c.305G>A	c.(304-306)cGc>cAc	p.R102H	UBE2N_ENST00000550657.1_3'UTR|UBE2N_ENST00000549833.1_Missense_Mutation_p.R39H|UBE2N_ENST00000552442.1_Intron	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	102					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|DNA double-strand break processing (GO:0000729)|double-strand break repair via homologous recombination (GO:0000724)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone ubiquitination (GO:0016574)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone modification (GO:0031058)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|postreplication repair (GO:0006301)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of DNA repair (GO:0006282)|regulation of histone ubiquitination (GO:0033182)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-MMS2 complex (GO:0031372)|UBC13-UEV1A complex (GO:0035370)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|liver(2)|lung(5)	10						CAGAACTGTGCGGATCTGCAG	0.498								Direct reversal of damage;Rad6 pathway																													Pancreas(197;738 2228 30225 32034 33454)	ENST00000318066.2											0			endometrium(3)|liver(2)|lung(5)	10						c.(304-306)cGc>cAc	ubiquitin-conjugating enzyme E2N						112	98	103					12																	93804623		2203	4300	6503	SO:0001583	missense	7334			DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity	g.chr12:93804623C>T	D83004	D83004	CCDS31875.1	CCDS31875.1	12q22	2011-05-19	2011-05-19		2011-05-19	2011-05-19			ENSG00000177889		ENSG00000177889		"Ubiquitin-conjugating enzymes E2"	"Ubiquitin-conjugating enzymes E2"	12492	12492	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603679	603679	"ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)", "ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"		"ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)", "ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"			8902611	8902611	Standard	Standard	NM_003348	NM_003348		Approved	UbcH-ben, UBC13, MGC8489	uc001tcp.3	uc001tcp.3	P61088	P61088	OTTHUMG00000170156	OTTHUMG00000170156	ENST00000318066.2:c.305G>A	12.37:g.93804623C>T	ENSP00000316176:p.Arg102His		UBE2N_ENST00000549833.1_Missense_Mutation_p.R39H|UBE2N_ENST00000550657.1_3'UTR|UBE2N_ENST00000552442.1_Intron	p.R102H	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN			3	682	-			102		Q16781|Q53Y81	Missense_Mutation	SNP	ENST00000318066.2	37	c.305G>A	CCDS31875.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859080	0.71834	.	.	ENSG00000177889	ENST00000318066;ENST00000549833	T;T	0.38560	1.13;1.13	5.94	5.06	0.68205	5.94	5.06	0.68205	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	.	.	.	.	T	0.52853	0.1760	M	0.86953	2.85	0.80722	D	1	B	0.28082	0.2	B	0.31390	0.129	T	0.57694	-0.7767	9	0.56958	D	0.05	.	15.1265	0.72486	0.0:0.9325:0.0:0.0675	.	102	P61088	UBE2N_HUMAN	H	102;39	ENSP00000316176:R102H;ENSP00000450260:R39H	ENSP00000316176:R102H	R	-	2	0	0	UBE2N	92328754	92328754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.328000	0.79160	1.528000	0.49103	0.650000	0.86243	CGC		0.498	UBE2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407710.1		-9.433165	0	0	125	125	NM_003348		3	6.537237	6.537237	68	0.042254	0	0	0	1	0	3	68	0.042254	T	93804623	C	T	93804623	3	4	29	1	0	0	0	0	1	0	0	0	16863	768	27	1	161	1	UBE2N	12	93804623	Missense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		93804623	40047272	11	543											
VSIG10	54621	ucsc.edu	37	12	118533585	118533585	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr12:118533585C>A	ENST00000359236.5	-	2	390	c.114G>T	c.(112-114)gaG>gaT	p.E38D	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	38	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GAGTAACATTCTCATGAACTT	0.483																																																	0																	49	54	52					12																	118533585		2041	4196	6237	SO:0001583	missense	54621									CCDS44992.1	CCDS44992.1	12q24.23	2013-01-29			2013-01-29			ENSG00000176834	ENSG00000176834	ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	26078	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_019086	NM_019086		Approved		uc001tws.3	uc001tws.3	Q8N0Z9	Q8N0Z9			ENST00000359236.5:c.114G>T	12.37:g.118533585C>A	ENSP00000352172:p.Glu38Asp																	Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37		CCDS44992.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237621	0.22711	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.22945	1.93;1.93	4.67	2.72	0.32119	4.67	2.72	0.32119	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.411595	0.18800	N	0.130807	T	0.20088	0.0483	L	0.39692	1.235	0.09310	N	1	B	0.18166	0.026	B	0.23275	0.045	T	0.18366	-1.0339	10	0.49607	T	0.09	-11.6077	7.5988	0.28065	0.0:0.6495:0.2568:0.0938	.	38	Q8N0Z9	VSI10_HUMAN	D	38	ENSP00000352172:E38D;ENSP00000442861:E38D	ENSP00000352172:E38D	E	-	3	2	2	VSIG10	117017968	117017968	0.015000	0.18098	0.067000	0.19924	0.908000	0.53690	-0.141000	0.10327	0.562000	0.29204	0.655000	0.94253	GAG		0.483	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2			-3	-3	22	22	NM_019086		4			14							4	14		A	118533585	C	A	118533585	3	1	29	1	0	0	0	0	1	0	0	0	17220	912	32	5	1540	5	VSIG10	12	118533585	Missense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08	24728962	118533585	15318310	12	544											
MYO1F	4542	broad.mit.edu	37	19	8620657	8620657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr19:8620657C>T	ENST00000338257.8	-	2	294	c.27G>A	c.(25-27)tgG>tgA	p.W9*		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	9					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGTGGCTCTGCCAGTGGAAGC	0.642																																						ENST00000338257.8											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(25-27)tgG>tgA	myosin IF						63	69	67					19																	8620657		2063	4203	6266	SO:0001587	stop_gained	4542				unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8620657C>T	X98411	X98411	CCDS42494.1	CCDS42494.1	19p13.3-p13.2	2011-09-27			2011-09-27			ENSG00000142347	ENSG00000142347	ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	"Myosins / Myosin superfamily : Class I"	7600	7600	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601480	601480						9119401, 8884266	9119401, 8884266	Standard	Standard	NM_012335	NM_012335		Approved		uc002mkg.3	uc002mkg.3	O00160	O00160	OTTHUMG00000156005	OTTHUMG00000156005	ENST00000338257.8:c.27G>A	19.37:g.8620657C>T	ENSP00000344871:p.Trp9*			p.W9*	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			2	294	-			9	Myosin head-like.	Q8WWN7	Nonsense_Mutation	SNP	ENST00000338257.8	37	c.27G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	37	6.115757	0.97296	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	.	.	.	3.98	3.98	0.46160	3.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8059	0.69956	0.0:1.0:0.0:0.0	.	.	.	.	X	54;9	.	ENSP00000304899:W54X	W	-	3	0	0	MYO1F	8526657	8526657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.393000	0.79851	2.059000	0.61396	0.455000	0.32223	TGG		0.642	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		1.510549	-17	-17	39	39			3	6.554616	6.554616	28	0.096774	0	0	0	1	0	3	28	0.096774	T	8620657	C	T	8620657	4	4	29	1	0	0	0	0	0	1	0	0	10073	740	26	2	3377	2	MYO1F	19	8620657	Nonsense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		8620657	50508326	13	545											
C20orf3	57136	broad.mit.edu	37	20	24952175	24952175	+	Silent	SNP	C	C	T			TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	g.chr20:24952175C>T	ENST00000217456.2	-	5	749	c.459G>A	c.(457-459)ctG>ctA	p.L153L	RNU6-1257P_ENST00000384625.1_RNA|APMAP_ENST00000447138.1_Silent_p.L153L	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	153					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										CACGGATACCCAGGGGTCTCC	0.488																																						ENST00000217456.2											0										c.(457-459)ctG>ctA	adipocyte plasma membrane associated protein						94	96	95					20																	24952175		2203	4300	6503	SO:0001819	synonymous_variant	57136						g.chr20:24952175C>T	AB033767	AB033767	CCDS13166.1	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474	ENSG00000101474	ENSG00000101474				13238	13238	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615884	615884	"chromosome 20 open reading frame 3"	C20orf3	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	10945474, 11583587, 20552250	Standard	Standard	NM_020531	NM_020531		Approved	BSCv	uc002wty.3	uc002wty.3	Q9HDC9	Q9HDC9	OTTHUMG00000032107	OTTHUMG00000032107	ENST00000217456.2:c.459G>A	20.37:g.24952175C>T			APMAP_ENST00000447138.1_Silent_p.L153L	p.L153L	NM_020531.2	NP_065392.1					5	749	-					A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Silent	SNP	ENST00000217456.2	37	c.459G>A	CCDS13166.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287554	0.23478	.	.	ENSG00000101474	ENST00000451442	.	.	.	5.47	2.15	0.27550	5.47	2.15	0.27550	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.9306	5.5048	0.16848	0.4281:0.4737:0.0:0.0981	.	.	.	.	X	138	.	.	W	-	2	0	0	C20orf3	24900175	24900175	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.218000	0.32467	0.646000	0.30693	0.561000	0.74099	TGG		0.488	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2		-6.453858	11	11	102	102	NM_020531		4	9.054166	9.054166	70	0.054054	0	0	0	1	0	4	70	0.054054	T	24952175	C	T	24952175	2	4	29	1	0	0	0	0	0	0	0	1	2109	581	21	3		3	C20orf3	20	24952175	Silent	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		24952175	38073345	14	546											
AADACL4	343066	broad.mit.edu	37	1	12711246	12711246	+	Silent	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:12711246C>T	ENST00000376221.1	+	2	273	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	91						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGGTGACCGACCTGCGTTTTG	0.493																																						ENST00000376221.1											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(271-273)gaC>gaT	arylacetamide deacetylase-like 4						94	92	93					1																	12711246		2203	4300	6503	SO:0001819	synonymous_variant	343066				integral to membrane	carboxylesterase activity	g.chr1:12711246C>T			CCDS30590.1	CCDS30590.1	1p36.21	2010-12-14			2010-12-14			ENSG00000204518	ENSG00000204518	ENSG00000204518	ENSG00000204518				32038	32038	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_006710608	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	uc001auf.3	Q5VUY2	Q5VUY2	OTTHUMG00000001889	OTTHUMG00000001889	ENST00000376221.1:c.273C>T	1.37:g.12711246C>T				p.D91D	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	2	273	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	91			Silent	SNP	ENST00000376221.1	37	c.273C>T	CCDS30590.1																																																																																									0.493	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1		124.661547	-42	-42	120	120	NM_001013630		41	124.945118	124.945118	52	0.44086	0	0	0	1	0	41	52	0.44086	T	12711246	C	T	12711246	2	4	30	1	0	0	0	0	0	0	0	1	13	506	18	3		3	AADACL4	1	12711246	Silent	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		12711246	236539375	1	547											
RPL11	6135	broad.mit.edu	37	1	24019228	24019229	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:24019228_24019229insAG	ENST00000374550.3	+	2	181_182	c.136_137insAG	c.(136-138)cagfs	p.Q46fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	46					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCTCACAGGGCAGACCCCTGTG	0.535																																						ENST00000374550.3											0			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(136-138)cagfs	ribosomal protein L11																																			SO:0001589	frameshift_variant	6135			endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019228_24019229insAG	L05092	L05092	CCDS238.1	CCDS238.1	1p36.1-p35	2011-04-06			2011-04-06			ENSG00000142676	ENSG00000142676	ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	"L ribosomal proteins"	10301	10301	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604175	604175						9582194, 10343117	9582194, 10343117	Standard	Standard	NM_000975	NM_000975		Approved	L11	uc001bhk.3	uc001bhk.3	P62913	P62913	OTTHUMG00000002926	OTTHUMG00000002926	ENST00000374550.3:c.137_138dupAG	1.37:g.24019229_24019230dupAG	ENSP00000363676:p.Gln46fs		RPL11_ENST00000482370.1_3'UTR	p.Q46fs	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	181_182	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	46		P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Ins	INS	ENST00000374550.3	37	c.136_137insAG	CCDS238.1																																																																																									0.535	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	.	.	-14	-14	115	115	NM_000975		47			66	0.41						47	66	0.41	AG	24019229	-	AG	24019228	7	5	30	1	0	1	1	0	0	0	0	0	13557	711	25	0	142	0	RPL11	1	24019228	Frame_Shift_Ins	INS	-	TCGA-V4-A9F1-01A-11D-A39W-08	11307982	24019228	225231393	2	548											
SEMA4A	64218	broad.mit.edu	37	1	156146412	156146412	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:156146412C>G	ENST00000368285.3	+	15	2177	c.1910C>G	c.(1909-1911)tCc>tGc	p.S637C	SEMA4A_ENST00000355014.2_Missense_Mutation_p.S637C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S505C|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S505C|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S637C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	637					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S637F(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCTGTGATCTCCTACTGGGTG	0.577																																						ENST00000368285.3											1	Substitution - Missense(1)	NS(1)	breast(1)|ovary(2)|skin(2)	5						c.(1909-1911)tCc>tGc	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A						101	106	104					1																	156146412		2203	4300	6503	SO:0001583	missense	64218			axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156146412C>G	AK022416	AK022416	CCDS1132.1, CCDS53378.1	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			2014-01-28			ENSG00000196189	ENSG00000196189	ENSG00000196189	ENSG00000196189		"Semaphorins"	"Semaphorins"	10729	10729	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607292	607292		SEMAB		SEMAB		7748561	7748561	Standard	Standard	NM_022367	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	uc009wrq.3	Q9H3S1	Q9H3S1	OTTHUMG00000014042	OTTHUMG00000014042	ENST00000368285.3:c.1910C>G	1.37:g.156146412C>G	ENSP00000357268:p.Ser637Cys		SEMA4A_ENST00000355014.2_Missense_Mutation_p.S637C|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S505C|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S637C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S505C	p.S637C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			15	2177	+	Hepatocellular(266;0.158)		637		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.1910C>G	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630652	0.28978	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.676221	0.15501	N	0.259048	T	0.33352	0.0860	M	0.69823	2.125	0.31702	N	0.640558	B;B	0.32040	0.353;0.353	B;B	0.32762	0.152;0.152	T	0.40553	-0.9557	10	0.56958	D	0.05	.	10.9839	0.47510	0.1866:0.8134:0.0:0.0	.	505;637	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	C	637;637;505;599;599;505;637	ENSP00000347117:S637C;ENSP00000357268:S637C;ENSP00000357267:S505C;ENSP00000357269:S505C;ENSP00000357265:S637C	ENSP00000347117:S637C	S	+	2	0	0	SEMA4A	154413036	154413036	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	2.074000	0.41529	2.336000	0.79503	0.313000	0.20887	TCC		0.577	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2		39.363146	-33	-33	41	41	NM_022367		13	40.084633	40.084633	24	0.351351	0	0	0	1	0	13	24	0.351351	G	156146412	C	G	156146412	3	3	30	1	0	0	0	0	1	0	0	0	14031	855	30	5	1964	5	SEMA4A	1	156146412	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	132127184	156146412	93104209	3	549											
PLD5	200150	broad.mit.edu	37	1	242264008	242264008	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:242264008C>T	ENST00000536534.2	-	9	1557	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	PLD5_ENST00000427495.1_Missense_Mutation_p.R377H|PLD5_ENST00000442594.2_Missense_Mutation_p.R347H			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	439	PLD phosphodiesterase 2.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTACTTGTTGCGATTTAACCT	0.448																																						ENST00000536534.2											0			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1315-1317)cGc>cAc	phospholipase D family, member 5						242	205	218					1																	242264008		2203	4300	6503	SO:0001583	missense	200150				integral to membrane	catalytic activity	g.chr1:242264008C>T	AK098092	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			2008-02-05			ENSG00000180287	ENSG00000180287	ENSG00000180287	ENSG00000180287				26879	26879	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001195811	NM_001195811		Approved	FLJ40773	uc001hzn.2	uc001hzn.2	Q8N7P1	Q8N7P1	OTTHUMG00000039867	OTTHUMG00000039867	ENST00000536534.2:c.1316G>A	1.37:g.242264008C>T	ENSP00000440896:p.Arg439His		PLD5_ENST00000442594.2_Missense_Mutation_p.R347H|PLD5_ENST00000427495.1_Missense_Mutation_p.R377H	p.R439H			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		9	1557	-	Melanoma(84;0.242)			PLD phosphodiesterase 2.	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1316G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	5.529	0.282617	0.10458	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.00476	7.15;7.15;7.15	5.5	5.5	0.81552	5.5	5.5	0.81552	Phospholipase D/Transphosphatidylase (1);	0.221081	0.48286	D	0.000189	T	0.00178	0.0005	N	0.01446	-0.86	0.41076	D	0.985485	B;B;B	0.32425	0.371;0.132;0.208	B;B;B	0.21708	0.036;0.005;0.036	T	0.66626	-0.5876	10	0.02654	T	1	-14.9538	17.1809	0.86855	0.0:1.0:0.0:0.0	.	347;439;377	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	H	377;347;439	ENSP00000401285:R377H;ENSP00000414188:R347H;ENSP00000440896:R439H	ENSP00000401285:R377H	R	-	2	0	0	PLD5	240330631	240330631	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.645000	0.54389	2.578000	0.87016	0.650000	0.86243	CGC		0.448	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2		51.866315	-29	-29	77	77	NM_152666		17	52.363772	52.363772	27	0.386364	0	0	0	1	0	17	27	0.386364	T	242264008	C	T	242264008	3	4	30	1	0	0	0	0	1	0	0	0	12049	768	27	1	302	1	PLD5	1	242264008	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	86117596	242264008	6986613	4	550											
ALPI	248	broad.mit.edu	37	2	233323457	233323457	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr2:233323457C>T	ENST00000295463.3	+	10	1376	c.1299C>T	c.(1297-1299)agC>agT	p.S433S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	433					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGAGCGAGAGCGGTGAGTGAG	0.647																																						ENST00000295463.3											0			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1297-1299)agC>agT	alkaline phosphatase, intestinal						57	54	55					2																	233323457		2203	4300	6503	SO:0001630	splice_region_variant	248			phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233323457C>T	M15694	M15694	CCDS2492.1	CCDS2492.1	2q37.1	2008-02-05			2008-02-05			ENSG00000163295	ENSG00000163295	ENSG00000163295	ENSG00000163295	3.1.3.1			437	437	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			171740	171740						3468508, 3469665	3468508, 3469665	Standard	Standard	NM_001631	NM_001631		Approved		uc002vst.4	uc002vst.4	P09923	P09923	OTTHUMG00000133258	OTTHUMG00000133258	ENST00000295463.3:c.1300+1C>T	2.37:g.233323457C>T				p.S433S	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	10	1376	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	433		B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Splice_Site	SNP	ENST00000295463.3	37	c.1299C>T	CCDS2492.1																																																																																									0.647	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2		45.220140	12	12	50	50	NM_001631	Silent	15	45.375705	45.375705	20	0.428571	0	0	0	1	0	15	20	0.428571	T	233323457	C	T	233323457	5	4	30	1	0	0	0	0	0	0	1	0	543	782	27	1	1337	1	ALPI	2	233323457	Splice_Site	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		233323457	9875916	5	551											
BAP1	51533	broad.mit.edu	37	3	52443593	52443593	+	5'Flank	SNP	G	G	C			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr3:52443593G>C	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Nonsense_Mutation_p.Y33*|BAP1_ENST00000460680.1_Nonsense_Mutation_p.Y33*|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TCTGAAGGTCGTAGATCTCCT	0.612																																						ENST00000460680.1											0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(97-99)taC>taG	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						221	230	227					3																	52443593		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52443593G>C	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"Zinc fingers, PHD-type"		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52443593G>C	Exception_encountered		BAP1_ENST00000296288.5_Nonsense_Mutation_p.Y33*	p.Y33*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	3	570	-			33		K4DI82	Nonsense_Mutation	SNP	ENST00000327906.3	37	c.99C>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915801	0.92178	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	4.97	3.82	0.43975	4.97	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7504	9.8713	0.41175	0.9174:0.0:0.0826:0.0	.	.	.	.	X	33	.	ENSP00000296288:Y33X	Y	-	3	2	2	BAP1	52418633	52418633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.702000	0.54800	0.761000	0.33130	-0.302000	0.09304	TAC		0.612	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		205.658681	-4	-4	277	277	NM_016483		59	209.468362	209.468362	22	0.728395	0	0	0	1	0	59	22	0.728395	C	52443593	G	C	52443593	1	2	30	0	1	0	0	0	0	0	0	0	1311	1140	40	5		5	BAP1	3	52443593	5'Flank	SNP	G	TCGA-V4-A9F1-01A-11D-A39W-08		52443593	145578837	6	552											
MYST3	7994	broad.mit.edu	37	8	41790122	41790146	+	Frame_Shift_Del	DEL	CTGCTGGTGAGCAGCCGCAGAGGGC	CTGCTGGTGAGCAGCCGCAGAGGGC	-	rs140666969|rs145754397|rs181712540	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr8:41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC	ENST00000396930.3	-	18	6135_6159	c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG	c.(5590-5616)ctgccctctgcggctgctcaccagcagfs	p.LPSAAAHQQ1864fs	KAT6A_ENST00000265713.2_Frame_Shift_Del_p.LPSAAAHQQ1864fs|KAT6A_ENST00000406337.1_Frame_Shift_Del_p.LPSAAAHQQ1864fs	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1864					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CATACAGCTGCTGCTGGTGAGCAGCCGCAGAGGGCAGTGGCGCAG	0.587																																						ENST00000396930.3											0										c.(5590-5616)ctgccctctgcggctgctcaccagcagfs	K(lysine) acetyltransferase 6A																																			SO:0001589	frameshift_variant	7994			histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC	U47742	U47742	CCDS6124.1	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	13013	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	"Monocytic leukemia zinc finger protein"	601408	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	8849440, 8782817	Standard	Standard	NM_001099412	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	uc003xon.4	Q92794	Q92794	OTTHUMG00000150453	OTTHUMG00000150453	ENST00000396930.3:c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG	8.37:g.41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC	ENSP00000380136:p.Leu1864fs		KAT6A_ENST00000265713.2_Frame_Shift_Del_p.LPSAAAHQQ1864fs|KAT6A_ENST00000406337.1_Frame_Shift_Del_p.LPSAAAHQQ1864fs	p.LPSAAAHQQ1864fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	6135_6159	-			1864		Q76L81	Frame_Shift_Del	DEL	ENST00000396930.3	37	c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG	CCDS6124.1																																																																																									0.587	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	.	.	5	5	26	26	NM_006766		5			2	0.71						5	2	0.71	-	41790146	CTGCTGGTGAGCAGCCGCAGAGGGC	-	41790122	7	5	30	1	0	1	0	1	0	0	0	0	10104	796	28	0	402	0	MYST3	8	41790122	Frame_Shift_Del	DEL	CTGCTGGTGAGCAGCCGCAGAGGGC	TCGA-V4-A9F1-01A-11D-A39W-08		41790122	104573900	7	553											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		87.383698	-35	-35	77	77	NM_002072		28	88.162471	88.162471	44	0.388889	0	0	0	1	0	28	44	0.388889	G	80409488	T	G	80409488	3	3	30	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9F1-01A-11D-A39W-08		80409488	60803943	8	554											
EPS8L2	64787	broad.mit.edu	37	11	722155	722155	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr11:722155C>T	ENST00000533256.1	+	13	1424	c.1049C>T	c.(1048-1050)cCt>cTt	p.P350L	EPS8L2_ENST00000530636.1_Missense_Mutation_p.P350L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.P350L|EPS8L2_ENST00000526198.1_Missense_Mutation_p.P366L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	350					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCTTCGGGCCTCTGGACCTG	0.721																																						ENST00000533256.1											0			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1048-1050)cCt>cTt	EPS8-like 2						17	19	19					11																	722155		2201	4297	6498	SO:0001583	missense	64787				cytoplasm		g.chr11:722155C>T	AF318331	AF318331	CCDS31328.1	CCDS31328.1	11p15.5	2008-02-05			2008-02-05				ENSG00000177106		ENSG00000177106				21296	21296	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614988	614988						12620401	12620401	Standard	Standard	NM_022772	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	uc001lqt.3	Q9H6S3	Q9H6S3			ENST00000533256.1:c.1049C>T	11.37:g.722155C>T	ENSP00000435585:p.Pro350Leu		EPS8L2_ENST00000318562.8_Missense_Mutation_p.P350L|EPS8L2_ENST00000526198.1_Missense_Mutation_p.P366L|EPS8L2_ENST00000530636.1_Missense_Mutation_p.P350L|AP006621.9_ENST00000527021.2_RNA	p.P350L			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1424	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	350		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1049C>T	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.396184	0.83011	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	3.13	2.2	0.27929	3.13	2.2	0.27929	.	0.434143	0.21137	N	0.079544	T	0.39091	0.1065	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.12344	-1.0551	10	0.62326	D	0.03	-15.4899	9.2014	0.37260	0.0:0.8858:0.0:0.1142	.	366;350	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	L	350;350;350;366	ENSP00000320828:P350L;ENSP00000435585:P350L;ENSP00000436035:P350L;ENSP00000436230:P366L	ENSP00000320828:P350L	P	+	2	0	0	EPS8L2	712155	712155	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	5.022000	0.64078	0.670000	0.31165	0.486000	0.48141	CCT		0.721	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1		17.143717	-5	-5	32	32	NM_022772		6	17.58667	17.58667	12	0.333333	0	0	0	1	0	6	12	0.333333	T	722155	C	T	722155	3	4	30	1	0	0	0	0	1	0	0	0	5196	681	24	3	1091	3	EPS8L2	11	722155	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		722155	134284361	9	555											
PGR	5241	broad.mit.edu	37	11	100999546	100999546	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr11:100999546C>T	ENST00000325455.5	-	1	1709	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A86T	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	86	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTGGAATATGCGCCCTCCACG	0.602																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5											0			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(256-258)Gca>Aca	progesterone receptor						69	62	65					11																	100999546		2203	4300	6503	SO:0001583	missense	5241			cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999546C>T	M15716	M15716	CCDS8310.1, CCDS59229.1	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			2013-01-16			ENSG00000082175	ENSG00000082175	ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	"Nuclear hormone receptors"	8910	8910	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607311	607311								Standard	Standard	NM_000926	NM_000926		Approved	PR, NR3C3	uc001pgh.2	uc001pgh.2	P06401	P06401	OTTHUMG00000167531	OTTHUMG00000167531	ENST00000325455.5:c.256G>A	11.37:g.100999546C>T	ENSP00000325120:p.Ala86Thr		PGR_ENST00000263463.5_Missense_Mutation_p.A86T|PGR_ENST00000534013.1_Intron	p.A86T	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	1709	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	86	Modulating, Pro-Rich.	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.256G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515342	0.27123	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08984	3.03;3.03	4.2	2.24	0.28232	4.2	2.24	0.28232	.	0.965129	0.08471	N	0.940932	T	0.09247	0.0228	M	0.62723	1.935	0.09310	N	1	P;P	0.40681	0.727;0.727	B;B	0.32211	0.105;0.142	T	0.29058	-1.0024	10	0.62326	D	0.03	.	7.2339	0.26059	0.1994:0.4663:0.3343:0.0	.	86;86	Q8TDS3;P06401	.;PRGR_HUMAN	T	86	ENSP00000325120:A86T;ENSP00000263463:A86T	ENSP00000263463:A86T	A	-	1	0	0	PGR	100504756	100504756	0.000000	0.05858	0.049000	0.19019	0.126000	0.20510	-0.089000	0.11180	0.367000	0.24454	-0.397000	0.06425	GCA		0.602	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		-3.616466	-15	-15	43	43			3	6.778634	6.778634	48	0.058824	0	0	0	1	0	3	48	0.058824	T	100999546	C	T	100999546	3	4	30	1	0	0	0	0	1	0	0	0	11805	768	27	1	2577	1	PGR	11	100999546	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	100277391	100999546	34006970	10	556											
C3	718	broad.mit.edu	37	19	6684417	6684417	+	Missense_Mutation	SNP	A	A	G	rs146172605	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:6684417A>G	ENST00000245907.6	-	33	4246	c.4154T>C	c.(4153-4155)aTc>aCc	p.I1385T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1385					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GATCTCAAGGATCATAGTGTT	0.448																																						ENST00000245907.6											0			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4153-4155)aTc>aCc	complement component 3						140	140	140					19																	6684417		2203	4300	6503	SO:0001583	missense	718			complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6684417A>G	J04763	J04763	CCDS32883.1	CCDS32883.1	19p13.3-p13.2	2014-09-17			2014-09-17			ENSG00000125730	ENSG00000125730	ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	"Complement system", "Endogenous ligands"	1318	1318	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700	120700								Standard	Standard	NM_000064	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	uc002mfm.3	P01024	P01024	OTTHUMG00000150335	OTTHUMG00000150335	ENST00000245907.6:c.4154T>C	19.37:g.6684417A>G	ENSP00000245907:p.Ile1385Thr			p.I1385T	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	33	4246	-			1385		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4154T>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	0.831	-0.745322	0.03065	.	.	ENSG00000125730	ENST00000245907	T	0.28666	1.6	5.05	0.216	0.15258	5.05	0.216	0.15258	Alpha-macroglobulin, receptor-binding (2);	1.727610	0.02632	N	0.104516	T	0.16428	0.0395	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11867	-1.0570	10	0.07482	T	0.82	.	2.4924	0.04614	0.4546:0.0:0.196:0.3494	.	1385	P01024	CO3_HUMAN	T	1385	ENSP00000245907:I1385T	ENSP00000245907:I1385T	I	-	2	0	0	C3	6635417	6635417	0.004000	0.15560	0.203000	0.23512	0.245000	0.25701	-0.080000	0.11339	0.314000	0.23086	0.473000	0.43528	ATC		0.448	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		118.463833	-9	-9	110	110	NM_000064		37	118.828439	118.828439	49	0.430233	0	0	0	1	0	37	49	0.430233	G	6684417	A	G	6684417	3	3	30	1	0	0	0	0	1	0	0	0	2204	333	12	4	873	4	C3	19	6684417	Missense_Mutation	SNP	A	TCGA-V4-A9F1-01A-11D-A39W-08		6684417	52444566	11	557											
CCDC123	84902	broad.mit.edu	37	19	33444541	33444541	+	Missense_Mutation	SNP	C	C	T	rs569909161	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:33444541C>T	ENST00000305768.5	-	4	560	c.472G>A	c.(472-474)Gct>Act	p.A158T	CEP89_ENST00000590597.2_Missense_Mutation_p.A158T	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	158					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGTGGCACAGCGTACAGGTCA	0.478													C|||	4	0.000798722	0	0	5008	,	,		17065	0		0	False		,,,				2504	0.0041					ENST00000305768.5											0			breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(472-474)Gct>Act	centrosomal protein 89kDa						426	460	448					19																	33444541		2203	4300	6503	SO:0001583	missense	84902				centrosome|spindle pole		g.chr19:33444541C>T	AL832158	AL832158	CCDS32987.1	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289		ENSG00000121289				25907	25907	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615470	615470	"coiled-coil domain containing 123"	CCDC123	"coiled-coil domain containing 123"	CCDC123		16395595	16395595	Standard	Standard	NM_032816	NM_032816		Approved	FLJ14640	uc002nty.3	uc002nty.3	Q96ST8	Q96ST8			ENST00000305768.5:c.472G>A	19.37:g.33444541C>T	ENSP00000306105:p.Ala158Thr		CEP89_ENST00000590597.2_Missense_Mutation_p.A158T	p.A158T	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			4	560	-					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.472G>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351801	0.24512	.	.	ENSG00000121289	ENST00000305768	T	0.37235	1.21	5.12	1.75	0.24633	5.12	1.75	0.24633	.	0.965087	0.08559	N	0.927728	T	0.28366	0.0701	L	0.56769	1.78	0.09310	N	1	P;P;B	0.50819	0.939;0.938;0.451	B;B;B	0.36092	0.214;0.217;0.042	T	0.22382	-1.0218	10	0.48119	T	0.1	-0.3937	4.5944	0.12322	0.1748:0.6391:0.0:0.1861	.	129;158;158	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	T	158	ENSP00000306105:A158T	ENSP00000306105:A158T	A	-	1	0	0	CEP89	38136381	38136381	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.467000	0.06664	0.242000	0.21303	0.591000	0.81541	GCT		0.478	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2		-90.046428	-46	-46	549	549	NM_032816		8	12.74316	12.74316	390	0.020101	0	0	0	1	0	8	390	0.020101	T	33444541	C	T	33444541	3	4	30	1	0	0	0	0	1	0	0	0	2759	768	27	1	1943	1	CCDC123	19	33444541	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	26760124	33444541	25684442	12	558											
PSG6	5675	broad.mit.edu	37	19	43411102	43411102	+	Silent	SNP	G	G	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:43411102G>T	ENST00000292125.2	-	5	1256	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	PSG6_ENST00000402603.4_Silent_p.I311I|PSG6_ENST00000187910.2_Silent_p.I404I	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	404	Ig-like C2-type 3.		I -> S (in dbSNP:rs1065525).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGGATTTGGAGATTTCCTTGC	0.453																																						ENST00000187910.2											0			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1210-1212)atC>atA	pregnancy specific beta-1-glycoprotein 6						194	200	198					19																	43411102		2201	4299	6500	SO:0001819	synonymous_variant	5675						g.chr19:43411102G>T			CCDS12613.1, CCDS33038.1	CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			2013-01-29			ENSG00000170848	ENSG00000170848	ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	9523	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176395	176395						1690992	1690992	Standard	Standard	NM_002782	NM_002782		Approved				Q00889	Q00889	OTTHUMG00000151127	OTTHUMG00000151127	ENST00000292125.2:c.1212C>A	19.37:g.43411102G>T			PSG6_ENST00000402603.4_Silent_p.I311I|PSG6_ENST00000292125.2_Silent_p.I404I	p.I404I	NM_001031850.3	NP_001027020.1					5	1277	-		Prostate(69;0.00899)			O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.1212C>A	CCDS12613.1																																																																																									0.453	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1		179.372382	-66	-66	239	239	NM_002782		63	182.079552	182.079552	109	0.366279	1	0	2.03366e-24	1	2.03366e-24	63	109	0.366279	T	43411102	G	T	43411102	2	4	30	1	0	0	0	0	0	0	0	1	12659	932	33	5		5	PSG6	19	43411102	Silent	SNP	G	TCGA-V4-A9F1-01A-11D-A39W-08	9966561	43411102	15717881	13	559											
TFDP3	51270	broad.mit.edu	37	X	132351713	132351713	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chrX:132351713T>C	ENST00000310125.4	-	1	663	c.575A>G	c.(574-576)aAc>aGc	p.N192S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	192	Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CTGAGCCGAGTTGGTGGTCAG	0.433																																						ENST00000310125.4											0			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(574-576)aAc>aGc	transcription factor Dp family, member 3						105	96	99					X																	132351713		2203	4300	6503	SO:0001583	missense	51270				transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351713T>C	AF219119	AF219119	CCDS14636.2	CCDS14636.2	Xq26.2	2009-03-25			2009-03-25			ENSG00000183434	ENSG00000183434	ENSG00000183434	ENSG00000183434				24603	24603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	"E2F-like protein", "cancer/testis antigen 30"	300772	300772						12097419	12097419	Standard	Standard	NM_016521	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	uc004exb.1	Q5H9I0	Q5H9I0	OTTHUMG00000022433	OTTHUMG00000022433	ENST00000310125.4:c.575A>G	X.37:g.132351713T>C	ENSP00000385461:p.Asn192Ser			p.N192S	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	663	-	Acute lymphoblastic leukemia(192;0.000127)		192	Involved in negatively regulating E2F activity.	Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.575A>G	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	t	4.023	0.001782	0.07819	.	.	ENSG00000183434	ENST00000310125	T	0.25912	1.77	0.208	-0.415	0.12355	0.208	-0.415	0.12355	Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.13030	0.0316	N	0.17631	0.505	0.58432	D	0.999998	B	0.31290	0.318	B	0.31191	0.125	T	0.15435	-1.0437	9	0.45353	T	0.12	.	4.1341	0.10162	0.0:0.0:0.3486:0.6514	.	192	Q5H9I0	TFDP3_HUMAN	S	192	ENSP00000385461:N192S	ENSP00000385461:N192S	N	-	2	0	0	TFDP3	132179379	132179379	1.000000	0.71417	0.010000	0.14722	0.010000	0.07245	3.782000	0.55401	-1.079000	0.03113	-1.113000	0.02065	AAC		0.433	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1		46.647601	-13	-13	54	54	NM_016521		14	46.710673	46.710673	17	0.451613	0	0	0	1	0	14	17	0.451613	C	132351713	T	C	132351713	3	2	30	1	0	0	0	0	1	0	0	0	15796	1725	60	4	646	4	TFDP3	23	132351713	Missense_Mutation	SNP	T	TCGA-V4-A9F1-01A-11D-A39W-08		132351713	22918847	14	560											
C1orf89	79363	ucsc.edu	37	1	16559053	16559053	+	Missense_Mutation	SNP	C	C	T	rs142028968	byFrequency	TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr1:16559053C>T	ENST00000375599.3	-	4	898	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	160	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)	p.R160H(2)		large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						ACCTGCTATGCGGGCCAGCTG	0.587																																																	2	Substitution - Missense(2)	lung(1)|pancreas(1)										C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	64	62	63		479	5.6	0.8	1	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RSG1	NM_030907.3	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	160/259	16559053	4,13002	2203	4300	6503	SO:0001583	missense	79363							BC008702	BC008702	CCDS171.1	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881	ENSG00000132881	ENSG00000132881				28127	28127	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Rem/Rab-Similar GTPase 1"	"Rem/Rab-Similar GTPase 1"			"chromosome 1 open reading frame 89"	C1orf89	"chromosome 1 open reading frame 89"	C1orf89		19767740	19767740	Standard	Standard	NM_030907	NM_030907		Approved	MGC10731	uc001ayd.3	uc001ayd.3	Q9BU20	Q9BU20	OTTHUMG00000002214	OTTHUMG00000002214	ENST00000375599.3:c.479G>A	1.37:g.16559053C>T	ENSP00000364749:p.Arg160His																	Q5TEV7	Missense_Mutation	SNP	ENST00000375599.3	37		CCDS171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.91|18.91	3.722860|3.722860	0.68959|0.68959	6.81E-4|6.81E-4	1.16E-4|1.16E-4	ENSG00000132881|ENSG00000132881	ENST00000434014|ENST00000375599	.|T	.|0.69040	.|-0.37	5.61|5.61	5.61|5.61	0.85477|0.85477	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Mitochondrial Rho-like (1);	.|0.064449	.|0.64402	.|D	.|0.000007	T|T	0.80401|0.80401	0.4616|0.4616	M|M	0.71206|0.71206	2.165|2.165	0.53688|0.53688	D|D	0.999973|0.999973	.|D	.|0.89917	.|1.0	.|D	.|0.65773	.|0.938	T|T	0.81351|0.81351	-0.0972|-0.0972	5|10	.|0.59425	.|D	.|0.04	-4.6237|-4.6237	17.126|17.126	0.86714|0.86714	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|160	.|Q9BU20	.|RSG1_HUMAN	T|H	91|160	.|ENSP00000364749:R160H	.|ENSP00000364749:R160H	A|R	-|-	1|2	0|0	0|0	RSG1|RSG1	16431640|16431640	16431640|16431640	0.995000|0.995000	0.38212|0.38212	0.845000|0.845000	0.33349|0.33349	0.478000|0.478000	0.33099|0.33099	3.342000|3.342000	0.52159|0.52159	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.587	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2			-11	-11	54	54	NM_030907		4			33							4	33		T	16559053	C	T	16559053	3	4	31	1	0	0	0	0	1	0	0	0	2066	768	27	1	305	1	C1orf89	1	16559053	Missense_Mutation	SNP	C	TCGA-V4-A9F2-01A-11D-A39W-08		16559053	232691568	1	561											
ITPKB	3707	broad.mit.edu	37	1	226923298	226923298	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr1:226923298C>G	ENST00000272117.3	-	1	1861	c.1862G>C	c.(1861-1863)aGt>aCt	p.S621T	ITPKB_ENST00000429204.1_Missense_Mutation_p.S621T|ITPKB_ENST00000366784.1_Missense_Mutation_p.S621T			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	621					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTCAGGGTCACTGGAGATGTC	0.587																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1											0			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(1861-1863)aGt>aCt	inositol-trisphosphate 3-kinase B						123	114	117					1																	226923298		2203	4300	6503	SO:0001583	missense	3707					ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923298C>G	AJ242780	AJ242780	CCDS1555.1	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	ENSG00000143772	ENSG00000143772	2.7.1.127			6179	6179	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147522	147522	"inositol 1,4,5-trisphosphate 3-kinase B"		"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	1654894, 1330886	Standard	Standard	NM_002221	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	uc010pvo.2	P27987	P27987	OTTHUMG00000037582	OTTHUMG00000037582	ENST00000272117.3:c.1862G>C	1.37:g.226923298C>G	ENSP00000272117:p.Ser621Thr		ITPKB_ENST00000366784.1_Missense_Mutation_p.S621T|ITPKB_ENST00000272117.3_Missense_Mutation_p.S621T	p.S621T	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	2189	-		Prostate(94;0.0773)	621		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.1862G>C	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029051	0.93518	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.53206	1.29;1.29;0.63	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	L	0.27053	0.805	0.51482	D	0.999926	D	0.76494	0.999	D	0.80764	0.994	T	0.56786	-0.7921	10	0.44086	T	0.13	-13.9239	20.14	0.98056	0.0:1.0:0.0:0.0	.	621	P27987	IP3KB_HUMAN	T	621	ENSP00000272117:S621T;ENSP00000411152:S621T;ENSP00000355748:S621T	ENSP00000272117:S621T	S	-	2	0	0	ITPKB	224989921	224989921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.487000	0.73633	2.837000	0.97791	0.591000	0.81541	AGT		0.587	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1		159.835767	10	10	129	129	NM_002221		47	160.153296	160.153296	36	0.566265	0	0	0	1	0	47	36	0.566265	G	226923298	C	G	226923298	3	3	31	1	0	0	0	0	1	0	0	0	7918	565	20	5	1006	5	ITPKB	1	226923298	Missense_Mutation	SNP	C	TCGA-V4-A9F2-01A-11D-A39W-08	210364245	226923298	22327323	2	562											
TMEM8B	51754	broad.mit.edu	37	9	35846950	35846950	+	Silent	SNP	G	G	A			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr9:35846950G>A	ENST00000377991.4	+	11	1792	c.777G>A	c.(775-777)gtG>gtA	p.V259V	TMEM8B_ENST00000439587.2_Silent_p.V259V|TMEM8B_ENST00000377996.1_Silent_p.V259V|TMEM8B_ENST00000377988.2_Silent_p.V259V	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	259					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GTCGATATGTGCTGGAAGCTG	0.552																																						ENST00000377988.2											0			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						c.(775-777)gtG>gtA	transmembrane protein 8B						212	160	177					9																	35846950		2203	4300	6503	SO:0001819	synonymous_variant	51754			cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	g.chr9:35846950G>A	BC043384	BC043384	CCDS6595.1, CCDS43800.1	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103	ENSG00000137103	ENSG00000137103				21427	21427	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma expressed 6"	"nasopharyngeal carcinoma expressed 6"			"chromosome 9 open reading frame 127"	C9orf127	"chromosome 9 open reading frame 127"	C9orf127		12918109, 8619474	12918109, 8619474	Standard	Standard	NM_016446	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	uc003zym.4	A6NDV4	A6NDV4	OTTHUMG00000019885	OTTHUMG00000019885	ENST00000377991.4:c.777G>A	9.37:g.35846950G>A			TMEM8B_ENST00000377991.4_Silent_p.V259V|TMEM8B_ENST00000377996.1_Silent_p.V259V|TMEM8B_ENST00000439587.2_Silent_p.V259V	p.V259V	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN			10	2065	+			259		B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Silent	SNP	ENST00000377991.4	37	c.777G>A	CCDS43800.1																																																																																									0.552	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2		2.837767	12	12	89	89	NM_016446		5	11.085731	11.085731	46	0.098039	0	0	0	1	0	5	46	0.098039	A	35846950	G	A	35846950	2	1	31	1	0	0	0	0	0	0	0	1	16212	1306	46	2		2	TMEM8B	9	35846950	Silent	SNP	G	TCGA-V4-A9F2-01A-11D-A39W-08		35846950	105366481	3	563											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		60.121832	-22	-22	90	90	NM_002072		19	60.169552	60.169552	22	0.463415	0	0	0	1	0	19	22	0.463415	A	80409488	T	A	80409488	3	1	31	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9F2-01A-11D-A39W-08	44562538	80409488	60803943	4	564											
NEBL	10529	ucsc.edu	37	10	21102943	21102943	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr10:21102943C>A	ENST00000377122.4	-	23	2667	c.2271G>T	c.(2269-2271)atG>atT	p.M757I	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	757					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.M757I(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTCTACCTTTCATCTGTTTAT	0.333																																																	1	Substitution - Missense(1)	skin(1)															177	164	168					10																	21102943		2203	4300	6503	SO:0001583	missense	10529							Y16241	Y16241	CCDS7133.1, CCDS7134.1	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			2014-09-17			ENSG00000078114	ENSG00000078114	ENSG00000078114	ENSG00000078114				16932	16932	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605491	605491						9733644, 10470015	9733644, 10470015	Standard	Standard	NM_213569	NM_213569		Approved		uc001iqi.3	uc001iqi.3	O76041	O76041	OTTHUMG00000017788	OTTHUMG00000017788	ENST00000377122.4:c.2271G>T	10.37:g.21102943C>A	ENSP00000366326:p.Met757Ile																	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37		CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621180	0.28889	.	.	ENSG00000078114	ENST00000377122	T	0.46819	0.86	6.01	5.11	0.69529	6.01	5.11	0.69529	.	0.284283	0.38005	N	0.001848	T	0.37999	0.1024	L	0.34521	1.04	0.80722	D	1	B	0.15141	0.012	B	0.24006	0.05	T	0.15809	-1.0424	10	0.14656	T	0.56	.	15.0403	0.71785	0.0:0.9324:0.0:0.0676	.	757	O76041	NEBL_HUMAN	I	757	ENSP00000366326:M757I	ENSP00000366326:M757I	M	-	3	0	0	NEBL	21142949	21142949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.686000	0.46968	1.558000	0.49541	0.650000	0.86243	ATG		0.333	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1			0	0	61	61	NM_006393		4			28							4	28		A	21102943	C	A	21102943	3	1	31	1	0	0	0	0	1	0	0	0	10303	826	29	5	797	5	NEBL	10	21102943	Missense_Mutation	SNP	C	TCGA-V4-A9F2-01A-11D-A39W-08		21102943	114431804	5	565											
ARHGEF17	9828	broad.mit.edu	37	11	73021064	73021064	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr11:73021064T>G	ENST00000263674.3	+	1	1731	c.1381T>G	c.(1381-1383)Tcc>Gcc	p.S461A	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	461					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACAGCGGAAGTCCCTGTCAAA	0.577																																						ENST00000263674.3											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1381-1383)Tcc>Gcc	Rho guanine nucleotide exchange factor (GEF) 17						74	79	77					11																	73021064		2200	4293	6493	SO:0001583	missense	9828			actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021064T>G	AF378754	AF378754	CCDS8221.1	CCDS8221.1	11q13.3	2011-11-16			2011-11-16			ENSG00000110237	ENSG00000110237	ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	"Rho guanine nucleotide exchange factors"	21726	21726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"								11559528, 12071859	11559528, 12071859	Standard	Standard	NM_014786	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	uc001otu.3	Q96PE2	Q96PE2	OTTHUMG00000167971	OTTHUMG00000167971	ENST00000263674.3:c.1381T>G	11.37:g.73021064T>G	ENSP00000263674:p.Ser461Ala			p.S461A	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1731	+			461		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1381T>G	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.058516	0.76074	.	.	ENSG00000110237	ENST00000263674	T	0.71341	-0.56	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.186430	0.34435	N	0.003965	T	0.75517	0.3860	L	0.29908	0.895	0.38199	D	0.940129	D	0.64830	0.994	D	0.72625	0.978	T	0.80578	-0.1320	10	0.87932	D	0	-16.1841	13.5607	0.61788	0.0:0.0:0.0:1.0	.	461	Q96PE2	ARHGH_HUMAN	A	461	ENSP00000263674:S461A	ENSP00000263674:S461A	S	+	1	0	0	ARHGEF17	72698712	72698712	1.000000	0.71417	0.989000	0.46669	0.559000	0.35586	7.847000	0.86896	1.876000	0.54355	0.379000	0.24179	TCC		0.577	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		17.611395	4	4	42	42	NM_014786		7	19.380225	19.380225	22	0.241379	0	0	0	1	0	7	22	0.241379	G	73021064	T	G	73021064	3	3	31	1	0	0	0	0	1	0	0	0	900	1667	58	5	1383	5	ARHGEF17	11	73021064	Missense_Mutation	SNP	T	TCGA-V4-A9F2-01A-11D-A39W-08		73021064	61985452	6	566											
MRPS35	60488	broad.mit.edu	37	12	27863872	27863872	+	Silent	SNP	C	C	T			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr12:27863872C>T	ENST00000081029.3	+	1	167	c.96C>T	c.(94-96)gtC>gtT	p.V32V	RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA|MRPS35_ENST00000538315.1_Silent_p.V32V|RP11-1060J15.7_ENST00000538640.1_lincRNA	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CCACTCCGGTCCCGACACCTA	0.652																																						ENST00000081029.3											0			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(94-96)gtC>gtT	mitochondrial ribosomal protein S35						59	47	51					12																	27863872		2203	4300	6503	SO:0001819	synonymous_variant	60488			DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27863872C>T	AF182422	AF182422	CCDS8714.1, CCDS53769.1	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			2012-09-13			ENSG00000061794	ENSG00000061794	ENSG00000061794	ENSG00000061794		"Mitochondrial ribosomal proteins / small subunits"	"Mitochondrial ribosomal proteins / small subunits"	16635	16635	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611995	611995						11279123	11279123	Standard	Standard	NM_021821	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	uc001rih.3	P82673	P82673	OTTHUMG00000169215	OTTHUMG00000169215	ENST00000081029.3:c.96C>T	12.37:g.27863872C>T			MRPS35_ENST00000538315.1_Silent_p.V32V	p.V32V	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN			1	167	+	Lung SC(9;0.0873)		32		B2RDZ7|Q96Q21	Silent	SNP	ENST00000081029.3	37	c.96C>T	CCDS8714.1																																																																																									0.652	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1		14.774251	-7	-7	21	21	NM_021821		5	14.774251	14.774251	5	0.5	0	0	0	1	0	5	5	0.5	T	27863872	C	T	27863872	2	4	31	1	0	0	0	0	0	0	0	1	9844	842	30	3		3	MRPS35	12	27863872	Silent	SNP	C	TCGA-V4-A9F2-01A-11D-A39W-08		27863872	105988023	7	567											
KRR1	11103	broad.mit.edu	37	12	75897718	75897718	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chr12:75897718T>C	ENST00000229214.4	-	7	820	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	266	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GAATGGCGTATATTCTTTCTT	0.343																																						ENST00000229214.4											0			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(796-798)tAt>tGt	KRR1, small subunit (SSU) processome component, homolog (yeast)						259	245	250					12																	75897718		2203	4300	6503	SO:0001583	missense	11103			rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75897718T>C	U55766	U55766	CCDS9012.1	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615	ENSG00000111615	ENSG00000111615				5176	5176	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612817	612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	7505766, 11027267, 11359931, 8675026	Standard	Standard	NM_007043	NM_007043		Approved	RIP-1	uc001sxt.3	uc001sxt.3	Q13601	Q13601	OTTHUMG00000169759	OTTHUMG00000169759	ENST00000229214.4:c.797A>G	12.37:g.75897718T>C	ENSP00000229214:p.Tyr266Cys		KRR1_ENST00000438169.2_Intron	p.Y266C	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN			7	820	-			266	Lys-rich.	A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.797A>G	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368063	0.82463	.	.	ENSG00000111615	ENST00000229214	T	0.31510	1.49	5.73	5.73	0.89815	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75340	-0.3352	10	0.87932	D	0	-8.1063	16.0153	0.80434	0.0:0.0:0.0:1.0	.	266	Q13601	KRR1_HUMAN	C	266	ENSP00000229214:Y266C	ENSP00000229214:Y266C	Y	-	2	0	0	KRR1	74183985	74183985	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.324000	0.79115	2.190000	0.69967	0.397000	0.26171	TAT		0.343	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1		-7.701973	-30	-30	165	165	NM_007043		5	11.829324	11.829324	88	0.053763	0	0	0	1	0	5	88	0.053763	C	75897718	T	C	75897718	3	2	31	1	0	0	0	0	1	0	0	0	8446	1406	49	4	364	4	KRR1	12	75897718	Missense_Mutation	SNP	T	TCGA-V4-A9F2-01A-11D-A39W-08	48033846	75897718	57954177	8	568											
ZMYM3	9203	ucsc.edu	37	X	70468373	70468373	+	Splice_Site	SNP	C	C	T	rs374433215		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	g.chrX:70468373C>T	ENST00000353904.2	-	10	1926	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	ZMYM3_ENST00000373988.1_Splice_Site_p.R582H|ZMYM3_ENST00000373984.3_Splice_Site_p.R582H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Splice_Site_p.R580H|ZMYM3_ENST00000314425.5_Splice_Site_p.R580H	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	580					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGGGCTTGTGCGCTGGAGGGA	0.607																																																	0													HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	32	30	31		1739,1739,1739	3.3	1	X		31	1,6727		0,1,2427,1872	no	missense-near-splice,missense-near-splice,missense-near-splice	ZMYM3	NM_201599.2,NM_005096.3,NM_001171162.1	29,29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign,benign	580/1371,580/1371,580/1359	70468373	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	9203							AB002383	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	"Zinc fingers, MYM type"	13054	13054	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300061	300061	"zinc finger protein 261"	ZNF261	"zinc finger protein 261"	ZNF261		10486218	10486218	Standard	Standard	NM_201599	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	uc004dzh.2	Q14202	Q14202	OTTHUMG00000021799	OTTHUMG00000021799	ENST00000353904.2:c.1738-1G>A	X.37:g.70468373C>T																		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37		CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	1.777	-0.482793	0.04383	0.0	1.49E-4	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.43688	1.52;0.94;1.52;1.52;1.52	5.27	3.35	0.38373	5.27	3.35	0.38373	TRASH (1);	0.356856	0.23779	N	0.044656	T	0.22399	0.0540	N	0.12182	0.205	0.21147	N	0.999775	B;B	0.19706	0.038;0.022	B;B	0.13407	0.009;0.004	T	0.13575	-1.0504	10	0.30854	T	0.27	-6.7912	8.5121	0.33224	0.1527:0.7642:0.0:0.0832	.	580;580	Q14202-2;Q14202	.;ZMYM3_HUMAN	H	580;580;580;582;582	ENSP00000322845:R580H;ENSP00000363110:R580H;ENSP00000343909:R580H;ENSP00000363096:R582H;ENSP00000363100:R582H	ENSP00000322845:R580H	R	-	2	0	0	ZMYM3	70385098	70385098	0.072000	0.21174	1.000000	0.80357	0.488000	0.33401	0.125000	0.15749	0.990000	0.38787	0.183000	0.17082	CGC		0.607	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1			3	3	26	26	NM_201599	Missense_Mutation	4			11							4	11		T	70468373	C	T	70468373	5	4	31	1	0	0	0	0	0	0	1	0	17698	782	27	1	2437	1	ZMYM3	23	70468373	Splice_Site	SNP	C	TCGA-V4-A9F2-01A-11D-A39W-08		70468373	84802187	9	569											
IGSF9	57549	broad.mit.edu	37	1	159901298	159901298	+	Silent	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr1:159901298G>A	ENST00000368094.1	-	12	1655	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	IGSF9_ENST00000361509.3_Silent_p.C470C|IGSF9_ENST00000493195.1_Intron	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	486	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTGGCACTGCATTCCCAGT	0.642																																						ENST00000368094.1											0			central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1456-1458)tgC>tgT	immunoglobulin superfamily, member 9						56	56	56					1																	159901298		2203	4300	6503	SO:0001819	synonymous_variant	57549				cell junction|integral to membrane|synapse		g.chr1:159901298G>A	AB037776	AB037776	CCDS1190.1, CCDS44254.1	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			2013-02-11			ENSG00000085552	ENSG00000085552	ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	18132	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609738	609738						11991715	11991715	Standard	Standard	NM_020789	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	uc001fur.2	Q9P2J2	Q9P2J2	OTTHUMG00000022794	OTTHUMG00000022794	ENST00000368094.1:c.1458C>T	1.37:g.159901298G>A			IGSF9_ENST00000493195.1_Intron|IGSF9_ENST00000361509.3_Silent_p.C470C	p.C486C	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		12	1655	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	486	Ig-like 5.		Silent	SNP	ENST00000368094.1	37	c.1458C>T	CCDS44254.1																																																																																									0.642	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1		0.102506	-4	-4	37	37	NM_020789		3	6.712379	6.712379	34	0.081081	0	0	0	1	0	3	34	0.081081	A	159901298	G	A	159901298	2	1	32	1	0	0	0	0	0	0	0	1	7605	1311	46	2		2	IGSF9	1	159901298	Silent	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		159901298	89349323	1	570											
PDGFRA	5156	broad.mit.edu	37	4	55153609	55153609	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr4:55153609G>A	ENST00000257290.5	+	19	2906	c.2575G>A	c.(2575-2577)Gtg>Atg	p.V859M	FIP1L1_ENST00000507166.1_Missense_Mutation_p.V619M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	859	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTTTCTGCCCGTGAAGTGGAT	0.502			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	0			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2575-2577)Gtg>Atg	platelet-derived growth factor receptor, alpha polypeptide						250	229	236					4																	55153609		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55153609G>A	D50001	D50001	CCDS3495.1	CCDS3495.1	4q12	2014-09-17			2014-09-17			ENSG00000134853	ENSG00000134853	ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	8803	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			173490	173490								Standard	Standard	NM_006206	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	uc003han.4	P16234	P16234	OTTHUMG00000128699	OTTHUMG00000128699	ENST00000257290.5:c.2575G>A	4.37:g.55153609G>A	ENSP00000257290:p.Val859Met		FIP1L1_ENST00000507166.1_Missense_Mutation_p.V619M	p.V859M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		19	2906	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		859	Protein kinase.	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2575G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027316	0.93518	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.84589	-1.87;-1.87	5.84	5.84	0.93424	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29522	U	0.011903	D	0.90103	0.6908	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.90334	0.4354	10	0.87932	D	0	.	20.1466	0.98079	0.0:0.0:1.0:0.0	.	859	P16234	PGFRA_HUMAN	M	619;859	ENSP00000423325:V619M;ENSP00000257290:V859M	ENSP00000423325:V619M	V	+	1	0	0	FIP1L1;PDGFRA	54848366	54848366	1.000000	0.71417	0.982000	0.44146	0.935000	0.57460	7.795000	0.85887	2.779000	0.95612	0.591000	0.81541	GTG		0.502	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		66.429028	-22	-22	117	117	NM_006206		25	72.108576	72.108576	75	0.25	0	0	0	1	0	25	75	0.25	A	55153609	G	A	55153609	3	1	32	1	0	0	0	0	1	0	0	0	11661	1145	40	1	2645	1	PDGFRA	4	55153609	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		55153609	136000667	2	571											
FGF18	8817	broad.mit.edu	37	5	170863117	170863117	+	Silent	SNP	C	C	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr5:170863117C>T	ENST00000274625.5	+	3	634	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	30					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|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)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGAGGAGAACGTGGACTTCC	0.632																																						ENST00000274625.5											0			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(88-90)aaC>aaT	fibroblast growth factor 18						70	61	64					5																	170863117		2203	4300	6503	SO:0001819	synonymous_variant	8817			cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170863117C>T	AB007422	AB007422	CCDS4378.1	CCDS4378.1	5q34	2008-02-05			2008-02-05			ENSG00000156427	ENSG00000156427	ENSG00000156427	ENSG00000156427				3674	3674	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603726	603726						9660775, 9742123	9660775, 9742123	Standard	Standard	NM_003862	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	uc003mbk.3	O76093	O76093	OTTHUMG00000130464	OTTHUMG00000130464	ENST00000274625.5:c.90C>T	5.37:g.170863117C>T				p.N30N	NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	634	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	30		D3DQL7|Q6UWF1	Silent	SNP	ENST00000274625.5	37	c.90C>T	CCDS4378.1																																																																																									0.632	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2		15.604818	-13	-13	14	14	NM_033649, NM_003862		7	18.534876	18.534876	28	0.2	0	0	0	1	0	7	28	0.2	T	170863117	C	T	170863117	2	4	32	1	0	0	0	0	0	0	0	1	5846	535	19	1		1	FGF18	5	170863117	Silent	SNP	C	TCGA-V4-A9F3-01A-11D-A39W-08		170863117	10052143	3	572											
FLNC	2318	broad.mit.edu	37	7	128486478	128486478	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr7:128486478G>C	ENST00000325888.8	+	23	4349	c.4088G>C	c.(4087-4089)gGc>gCc	p.G1363A	FLNC_ENST00000346177.6_Missense_Mutation_p.G1363A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1363					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGAGGGTGGCTTGGTCAAC	0.627																																						ENST00000325888.8											0			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4087-4089)gGc>gCc	filamin C, gamma						51	57	55					7																	128486478		2057	4176	6233	SO:0001583	missense	2318			cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486478G>C	AB208865	AB208865	CCDS43644.1, CCDS47705.1	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591	ENSG00000128591	ENSG00000128591				3756	3756	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"actin binding protein 280"	"actin binding protein 280"	102565	102565	"filamin C, gamma (actin binding protein 280)"	FLN2	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	7689010, 8088838	Standard	Standard	NM_001458	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	uc003vnz.4	Q14315	Q14315	OTTHUMG00000023627	OTTHUMG00000023627	ENST00000325888.8:c.4088G>C	7.37:g.128486478G>C	ENSP00000327145:p.Gly1363Ala		FLNC_ENST00000346177.6_Missense_Mutation_p.G1363A	p.G1363A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			23	4349	+			1363		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4088G>C	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287808	0.40494	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91631	-2.88;-2.88	5.07	5.07	0.68467	5.07	5.07	0.68467	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92522	0.7625	L	0.31120	0.905	0.58432	D	0.99999	D;B	0.89917	1.0;0.08	D;B	0.91635	0.999;0.252	D	0.90047	0.4146	10	0.18710	T	0.47	.	15.114	0.72384	0.0:0.1521:0.8479:0.0	.	1363;1363	Q14315-2;Q14315	.;FLNC_HUMAN	A	1363	ENSP00000327145:G1363A;ENSP00000344002:G1363A	ENSP00000327145:G1363A	G	+	2	0	0	FLNC	128273714	128273714	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	4.802000	0.62539	2.360000	0.80028	0.555000	0.69702	GGC		0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		36.860630	1	1	65	65			13	38.080353	38.080353	28	0.317073	0	0	0	1	0	13	28	0.317073	C	128486478	G	C	128486478	3	2	32	1	0	0	0	0	1	0	0	0	5935	1203	42	5	4178	5	FLNC	7	128486478	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		128486478	30652185	4	573											
PCGF6	84108	broad.mit.edu	37	10	105073982	105073983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr10:105073982_105073983insA	ENST00000369847.3	-	9	1023_1024	c.956_957insT	c.(955-957)ctafs	p.L319fs	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Frame_Shift_Ins_p.L244fs|RNU11-3P_ENST00000391111.1_RNA	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	319					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		GGATTTCCCTTAGAGTTTGATA	0.381																																						ENST00000369847.3											0			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8						c.(955-957)ctafs	polycomb group ring finger 6																																			SO:0001589	frameshift_variant	84108			negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105073982_105073983insA	AB047006	AB047006	CCDS7546.1, CCDS31275.1	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374	ENSG00000156374	ENSG00000156374		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	21156	21156	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607816	607816	"ring finger protein 134"	RNF134	"ring finger protein 134"	RNF134		12167161	12167161	Standard	Standard	NM_032154	NM_032154		Approved	MBLR	uc001kwt.3	uc001kwt.3	Q9BYE7	Q9BYE7	OTTHUMG00000018982	OTTHUMG00000018982	ENST00000369847.3:c.957dupT	10.37:g.105073983_105073983dupA	ENSP00000358862:p.Leu319fs		PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Frame_Shift_Ins_p.L244fs	p.L319fs	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	9	1023_1024	-		Colorectal(252;0.0747)|Breast(234;0.128)	319		A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Frame_Shift_Ins	INS	ENST00000369847.3	37	c.956_957insT	CCDS31275.1																																																																																									0.381	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	.	.	-18	-18	91	91	NM_032154		33			84	0.28						33	84	0.28	A	105073983	-	A	105073982	7	5	32	1	0	1	1	0	0	0	0	0	11578	1741	61	0	103	0	PCGF6	10	105073982	Frame_Shift_Ins	INS	-	TCGA-V4-A9F3-01A-11D-A39W-08		105073982	30460765	5	574											
RAB38	23682	broad.mit.edu	37	11	87882992	87882992	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr11:87882992A>C	ENST00000243662.6	-	2	416	c.334T>G	c.(334-336)Tta>Gta	p.L112V		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	112					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGGAGACTTAACTTGGAGTCC	0.463																																						ENST00000243662.6											0			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(334-336)Tta>Gta	RAB38, member RAS oncogene family						185	179	181					11																	87882992		2201	4299	6500	SO:0001583	missense	23682			protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87882992A>C	AF235022	AF235022	CCDS8281.1	CCDS8281.1	11q14	2008-05-14			2008-05-14			ENSG00000123892	ENSG00000123892	ENSG00000123892	ENSG00000123892		"RAB, member RAS oncogene"	"RAB, member RAS oncogene"	9776	9776	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606281	606281						10910072	10910072	Standard	Standard	NM_022337	NM_022337		Approved	NY-MEL-1	uc001pcj.2	uc001pcj.2	P57729	P57729	OTTHUMG00000167288	OTTHUMG00000167288	ENST00000243662.6:c.334T>G	11.37:g.87882992A>C	ENSP00000243662:p.Leu112Val			p.L112V	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			2	416	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	112		Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.334T>G	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.483|0.483	-0.878893|-0.878893	0.02550|0.02550	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.76578|.	-1.03|.	5.38|5.38	4.25|4.25	0.50352|0.50352	5.38|5.38	4.25|4.25	0.50352|0.50352	Small GTP-binding protein domain (1);|.	0.149194|.	0.41823|.	D|.	0.000805|.	T|T	0.18045|0.18045	0.0433|0.0433	N|N	0.01048|0.01048	-1.04|-1.04	0.53688|0.53688	D|D	0.999979|0.999979	B|.	0.06786|.	0.001|.	B|.	0.11329|.	0.006|.	T|T	0.06991|0.06991	-1.0796|-1.0796	9|5	.|.	.|.	.|.	-10.546|-10.546	9.8389|9.8389	0.40987|0.40987	0.857:0.0:0.143:0.0|0.857:0.0:0.143:0.0	.|.	112|.	P57729|.	RAB38_HUMAN|.	V|G	112|110	ENSP00000243662:L112V|.	.|.	L|V	-|-	1|2	2|0	2|0	RAB38|RAB38	87522640|87522640	87522640|87522640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	2.614000|2.614000	0.46359|0.46359	0.892000|0.892000	0.36259|0.36259	-0.353000|-0.353000	0.07706|0.07706	TTA|GTT		0.463	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2		121.233052	-46	-46	131	131			41	124.902941	124.902941	87	0.320312	0	0	0	1	0	41	87	0.320312	C	87882992	A	C	87882992	3	2	32	1	0	0	0	0	1	0	0	0	12928	40	2	5	309	5	RAB38	11	87882992	Missense_Mutation	SNP	A	TCGA-V4-A9F3-01A-11D-A39W-08		87882992	47123524	6	575											
PRDM4	11108	broad.mit.edu	37	12	108133200	108133200	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr12:108133200G>A	ENST00000228437.5	-	11	2512	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	685					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCCTGCCTCCGCATAAACAAC	0.517																																						ENST00000228437.5											0			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2053-2055)Cgg>Tgg	PR domain containing 4						183	145	158					12																	108133200		2203	4300	6503	SO:0001583	missense	11108			cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108133200G>A	AF144757	AF144757	CCDS9115.1	CCDS9115.1	12q23-q24.1	2013-01-08			2013-01-08				ENSG00000110851		ENSG00000110851		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	9348	9348	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605780	605780						10552934	10552934	Standard	Standard	NM_012406	NM_012406		Approved	PFM1	uc001tmp.3	uc001tmp.3	Q9UKN5	Q9UKN5	OTTHUMG00000169914	OTTHUMG00000169914	ENST00000228437.5:c.2053C>T	12.37:g.108133200G>A	ENSP00000228437:p.Arg685Trp		RP11-864J10.4_ENST00000546714.1_RNA	p.R685W	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			11	2512	-			685		Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.2053C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604815	0.87157	.	.	ENSG00000110851	ENST00000228437	T	0.08008	3.14	5.44	5.44	0.79542	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.051322	0.85682	D	0.000000	T	0.20981	0.0505	L	0.31804	0.96	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.01087	-1.1456	10	0.59425	D	0.04	-3.5745	19.2785	0.94042	0.0:0.0:1.0:0.0	.	685	Q9UKN5	PRDM4_HUMAN	W	685	ENSP00000228437:R685W	ENSP00000228437:R685W	R	-	1	2	2	PRDM4	106657330	106657330	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.220000	0.58567	2.541000	0.85698	0.650000	0.86243	CGG		0.517	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1		-2.011866	-25	-25	40	40	NM_012406		3	6.477655	6.477655	41	0.068182	0	0	0	1	0	3	41	0.068182	A	108133200	G	A	108133200	3	1	32	1	0	0	0	0	1	0	0	0	12459	1086	38	1	360	1	PRDM4	12	108133200	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		108133200	25718695	7	576											
P2RX1	5023	hgsc.bcm.edu	37	17	3802232	3802232	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr17:3802232C>T	ENST00000225538.3	-	9	1236	c.962G>A	c.(961-963)gGc>gAc	p.G321D		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	321					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		ACTCACCTTGCCGTCCACCAG	0.532																																																	0																	209	162	178					17																	3802232		2203	4300	6503	SO:0001583	missense	5023							X83688	X83688	CCDS11040.1	CCDS11040.1	17p13.3	2012-01-17			2012-01-17				ENSG00000108405		ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	8533	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600845	600845						8834001	8834001	Standard	Standard	NM_002558	NM_002558		Approved	P2X1	uc002fww.3	uc002fww.3	P51575	P51575			ENST00000225538.3:c.962G>A	17.37:g.3802232C>T	ENSP00000225538:p.Gly321Asp																	Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37		CCDS11040.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302093	0.81136	.	.	ENSG00000108405	ENST00000225538	T	0.21031	2.03	4.44	4.44	0.53790	4.44	4.44	0.53790	.	0.113110	0.64402	D	0.000017	T	0.55273	0.1910	M	0.91972	3.26	0.58432	D	0.999992	D	0.89917	1.0	D	0.80764	0.994	T	0.67538	-0.5645	10	0.87932	D	0	-15.6533	16.5954	0.84795	0.0:1.0:0.0:0.0	.	321	P51575	P2RX1_HUMAN	D	321	ENSP00000225538:G321D	ENSP00000225538:G321D	G	-	2	0	0	P2RX1	3748981	3748981	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.827000	0.69300	2.462000	0.83206	0.561000	0.74099	GGC		0.532	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1			-30	-30	136	136	NM_002558		6			143							6	143		T	3802232	C	T	3802232	3	4	32	1	0	0	0	0	1	0	0	0	11339	739	26	2	253	2	P2RX1	17	3802232	Missense_Mutation	SNP	C	TCGA-V4-A9F3-01A-11D-A39W-08		3802232	77392978	8	577											
ZNF555	148254	broad.mit.edu	37	19	2852695	2852695	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr19:2852695G>A	ENST00000334241.4	+	4	770	c.632G>A	c.(631-633)cGt>cAt	p.R211H	ZNF555_ENST00000591539.1_Missense_Mutation_p.R210H|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R211L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTCCTCGTACTTCCTCC	0.448																																						ENST00000334241.4											1	Substitution - Missense(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(631-633)cGt>cAt	zinc finger protein 555						126	106	112					19																	2852695		2203	4300	6503	SO:0001583	missense	148254			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852695G>A	AL832140	AL832140	CCDS12096.1, CCDS59329.1	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			2013-09-20			ENSG00000186300	ENSG00000186300	ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	28382	28382	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_152791	NM_152791		Approved	MGC26707	uc002lwo.3	uc002lwo.3	Q8NEP9	Q8NEP9	OTTHUMG00000180500	OTTHUMG00000180500	ENST00000334241.4:c.632G>A	19.37:g.2852695G>A	ENSP00000334853:p.Arg211His		ZNF555_ENST00000591539.1_Missense_Mutation_p.R210H|AC006130.3_ENST00000589365.1_RNA	p.R211H	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	770	+			211		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.632G>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316525	0.23908	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.36340	1.26	3.4	0.557	0.17260	3.4	0.557	0.17260	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12860	0.0312	N	0.03917	-0.325	0.09310	N	1	B;B	0.24920	0.045;0.114	B;B	0.15052	0.007;0.012	T	0.30090	-0.9990	9	0.15952	T	0.53	.	5.2387	0.15460	0.1361:0.384:0.4798:0.0	.	211;210	Q8NEP9;A8KA89	ZN555_HUMAN;.	H	211;210	ENSP00000334853:R211H	ENSP00000334853:R211H	R	+	2	0	0	ZNF555	2803695	2803695	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-2.943000	0.00682	0.096000	0.17463	0.561000	0.74099	CGT		0.448	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		78.333283	-31	-31	83	83	NM_152791		26	79.252247	79.252247	43	0.376812	0	0	0	1	0	26	43	0.376812	A	2852695	G	A	2852695	3	1	32	1	0	0	0	0	1	0	0	0	17983	1145	40	1	646	1	ZNF555	19	2852695	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		2852695	56276288	9	578											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		66.238237	-28	-28	53	53	NM_002067		22	66.800936	66.800936	34	0.392857	0	0	0	1	0	22	34	0.392857	T	3118942	A	T	3118942	3	4	32	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9F3-01A-11D-A39W-08	266247	3118942	56010041	10	579											
BPI	671	broad.mit.edu	37	20	36954747	36954747	+	Silent	SNP	C	C	G			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr20:36954747C>G	ENST00000262865.4	+	10	1175	c.1086C>G	c.(1084-1086)acC>acG	p.T362T	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	362					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGCAGCCCACCGGCCTTACCT	0.592																																						ENST00000262865.4											0			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(1084-1086)acC>acG	bactericidal/permeability-increasing protein						90	72	78					20																	36954747		2203	4300	6503	SO:0001819	synonymous_variant	671			defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36954747C>G	J04739	J04739	CCDS13303.1	CCDS13303.1	20q11.23	2011-08-16			2011-08-16			ENSG00000101425	ENSG00000101425	ENSG00000101425	ENSG00000101425		"BPI fold containing"	"BPI fold containing"	1095	1095	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	"BPI fold containing family D, member 1"	109195	109195						8432532	8432532	Standard	Standard	NM_001725	NM_001725		Approved	BPIFD1	uc002xia.2	uc002xia.2	P17213	P17213	OTTHUMG00000032441	OTTHUMG00000032441	ENST00000262865.4:c.1086C>G	20.37:g.36954747C>G			BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	p.T362T	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			10	1175	+		Myeloproliferative disorder(115;0.00878)	362		B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.1086C>G	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	3.442	-0.113799	0.06881	.	.	ENSG00000101425	ENST00000417318	.	.	.	4.52	-9.05	0.00730	4.52	-9.05	0.00730	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09574	-1.0668	4	.	.	.	-0.0388	2.7084	0.05167	0.2925:0.3936:0.0742:0.2397	.	.	.	.	R	188	.	.	P	+	2	0	0	BPI	36388161	36388161	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-6.459000	0.00065	-3.126000	0.00237	-0.128000	0.14901	CCG		0.592	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2		21.923407	6	6	32	32	NM_001725		7	21.977753	21.977753	9	0.4375	0	0	0	1	0	7	9	0.4375	G	36954747	C	G	36954747	2	3	32	1	0	0	0	0	0	0	0	1	1490	639	23	5		5	BPI	20	36954747	Silent	SNP	C	TCGA-V4-A9F3-01A-11D-A39W-08		36954747	26070773	11	580											
RGL4	266747	ucsc.edu	37	22	24036582	24036582	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr22:24036582G>T	ENST00000290691.5	+	5	2131	c.961G>T	c.(961-963)Gct>Tct	p.A321S	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.A185S|GUSBP11_ENST00000455485.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	321	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CATCGTCTCTGCTCTGTGCAG	0.567																																																	0																	157	104	122					22																	24036582		2203	4300	6503	SO:0001583	missense	266747									CCDS13811.1	CCDS13811.1	22q11.23	2008-02-22			2008-02-22			ENSG00000159496	ENSG00000159496	ENSG00000159496	ENSG00000159496				31911	31911	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RalGDS related oncogene"	"RalGDS related oncogene"	612214	612214						9178890, 10851075	9178890, 10851075	Standard	Standard	NM_153615	NM_153615		Approved	Rgr	uc002zxn.3	uc002zxn.3	Q8IZJ4	Q8IZJ4	OTTHUMG00000150711	OTTHUMG00000150711	ENST00000290691.5:c.961G>T	22.37:g.24036582G>T	ENSP00000290691:p.Ala321Ser																	Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37		CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.947389	0.73672	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.40476	1.03;1.03;1.03	2.07	2.07	0.26955	2.07	2.07	0.26955	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.223543	0.30969	N	0.008504	T	0.57095	0.2030	M	0.65498	2.005	0.34186	D	0.671476	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.71656	0.974;0.961;0.974;0.974	T	0.69986	-0.4996	10	0.87932	D	0	.	10.2172	0.43175	0.0:0.0:1.0:0.0	.	185;185;321;321	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	S	185;321;321;321	ENSP00000383951:A185S;ENSP00000290691:A321S;ENSP00000402142:A321S	ENSP00000290691:A321S	A	+	1	0	0	RGL4	22366582	22366582	1.000000	0.71417	0.023000	0.16930	0.011000	0.07611	6.042000	0.70996	1.471000	0.48121	0.537000	0.68136	GCT		0.567	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1			-24	-24	22	22	NM_153615		4			21							4	21		T	24036582	G	T	24036582	3	4	32	1	0	0	0	0	1	0	0	0	13279	1319	46	5	979	5	RGL4	22	24036582	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		24036582	27267984	12	581											
EYA3	2140	broad.mit.edu	37	1	28339771	28339771	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr1:28339771T>C	ENST00000373871.3	-	9	860	c.620A>G	c.(619-621)cAg>cGg	p.Q207R	EYA3_ENST00000436342.2_Missense_Mutation_p.Q81R|EYA3_ENST00000545175.1_Missense_Mutation_p.Q154R|EYA3_ENST00000540618.1_Missense_Mutation_p.Q161R|EYA3_ENST00000373863.3_Missense_Mutation_p.Q161R|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.Q51R	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	207					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GGCCTGGTACTGATTCTGACC	0.463																																						ENST00000373871.3											0			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(619-621)cAg>cGg	eyes absent homolog 3 (Drosophila)						135	125	128					1																	28339771		2203	4300	6503	SO:0001583	missense	2140			anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28339771T>C	U81602	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161	ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	"Protein tyrosine phosphatases / Asp-based PTPs"	3521	3521	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601655	601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"		"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	9020840	Standard	Standard	NM_001990	NM_001990		Approved	DKFZp686C132	uc001bpi.2	uc001bpi.2	Q99504	Q99504	OTTHUMG00000003916	OTTHUMG00000003916	ENST00000373871.3:c.620A>G	1.37:g.28339771T>C	ENSP00000362978:p.Gln207Arg		EYA3_ENST00000436342.2_Missense_Mutation_p.Q81R|EYA3_ENST00000545175.1_Missense_Mutation_p.Q154R|EYA3_ENST00000373863.3_Missense_Mutation_p.Q161R|EYA3_ENST00000373864.1_Missense_Mutation_p.Q51R|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Missense_Mutation_p.Q161R	p.Q207R	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	9	860	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	207		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.620A>G	CCDS316.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742727	0.89573	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.94417	-3.12;-3.41;-3.42;-1.96;-1.96;-1.96	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96756	0.8941	M	0.71206	2.165	0.80722	D	1	D;D;D	0.71674	0.981;0.994;0.998	D;D;D	0.79784	0.969;0.985;0.993	D	0.96997	0.9726	10	0.56958	D	0.05	-17.8503	15.8132	0.78581	0.0:0.0:0.0:1.0	.	161;161;207	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	R	207;81;51;161;154;161	ENSP00000362978:Q207R;ENSP00000405587:Q81R;ENSP00000362971:Q51R;ENSP00000442558:Q161R;ENSP00000442280:Q154R;ENSP00000362970:Q161R	ENSP00000362970:Q161R	Q	-	2	0	0	EYA3	28212358	28212358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.691000	0.61738	2.196000	0.70406	0.533000	0.62120	CAG		0.463	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1		102.840978	-16	-16	84	84	NM_001990		34	102.947026	102.947026	40	0.459459	0	0	0	1	0	34	40	0.459459	C	28339771	T	C	28339771	3	2	33	1	0	0	0	0	1	0	0	0	5330	1580	55	4	1141	4	EYA3	1	28339771	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		28339771	220910850	1	582											
C2orf71	388939	broad.mit.edu	37	2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A	rs201706430		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512													G|||	1	0.000199681	0	0	5008	,	,		20924	0.001		0	False		,,,				2504	0					ENST00000331664.5											0			NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(85-87)Cgg>Tgg	chromosome 2 open reading frame 71						92	87	89					2																	29297043		1992	4166	6158	SO:0001583	missense	388939			response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29297043G>A			CCDS42669.1	CCDS42669.1	2p23.2	2014-01-28			2014-01-28			ENSG00000179270	ENSG00000179270	ENSG00000179270	ENSG00000179270				34383	34383	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613425	613425						20398886	20398886	Standard	Standard	NM_001029883	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	uc002rmt.2	A6NGG8	A6NGG8	OTTHUMG00000152024	OTTHUMG00000152024	ENST00000331664.5:c.85C>T	2.37:g.29297043G>A	ENSP00000332809:p.Arg29Trp			p.R29W	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	84	-			29			Missense_Mutation	SNP	ENST00000331664.5	37	c.85C>T	CCDS42669.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.86	1.765442	0.31228	.	.	ENSG00000179270	ENST00000331664	T	0.17854	2.25	5.88	-5.99	0.02213	5.88	-5.99	0.02213	.	0.143123	0.29853	N	0.011038	T	0.14570	0.0352	N	0.22421	0.69	0.19300	N	0.999976	D	0.57571	0.98	P	0.47744	0.556	T	0.22556	-1.0213	10	0.72032	D	0.01	-2.8259	19.4436	0.94836	0.2736:0.0:0.7264:0.0	.	29	A6NGG8	CB071_HUMAN	W	29	ENSP00000332809:R29W	ENSP00000332809:R29W	R	-	1	2	2	C2orf71	29150547	29150547	0.015000	0.18098	0.113000	0.21522	0.211000	0.24417	-0.612000	0.05616	-1.088000	0.03077	-0.291000	0.09656	CGG		0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3		44.575644	-4	-4	83	83	NM_001029883		19	51.918954	51.918954	73	0.206522	0	0	0	1	0	19	73	0.206522	A	29297043	G	A	29297043	3	1	33	1	0	0	0	0	1	0	0	0	2191	1057	37	1	3789	1	C2orf71	2	29297043	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		29297043	213902330	2	583											
NCAPH	23397	broad.mit.edu	37	2	97031759	97031759	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:97031759C>A	ENST00000240423.4	+	14	1887	c.1844C>A	c.(1843-1845)aCa>aAa	p.T615K	NCAPH_ENST00000455200.1_Missense_Mutation_p.T604K|NCAPH_ENST00000427946.1_Missense_Mutation_p.T479K	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	615					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GACATCACAACATATGGGGAG	0.438																																						ENST00000455200.1											0			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1810-1812)aCa>aAa	non-SMC condensin I complex, subunit H						172	158	163					2																	97031759		2203	4300	6503	SO:0001583	missense	23397			cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97031759C>A	BC024211	BC024211	CCDS2021.1, CCDS62960.1	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152	ENSG00000121152	ENSG00000121152				1112	1112	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602332	602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	9417923	Standard	Standard	NM_015341	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	uc002svz.1	Q15003	Q15003	OTTHUMG00000130451	OTTHUMG00000130451	ENST00000240423.4:c.1844C>A	2.37:g.97031759C>A	ENSP00000240423:p.Thr615Lys		NCAPH_ENST00000240423.4_Missense_Mutation_p.T615K|NCAPH_ENST00000427946.1_Missense_Mutation_p.T479K	p.T604K			Q15003	CND2_HUMAN			14	2106	+		Ovarian(717;0.0221)	615		B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.1811C>A	CCDS2021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.02|16.02	3.005366|3.005366	0.54254|0.54254	.|.	.|.	ENSG00000121152|ENSG00000121152	ENST00000435349|ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	.|T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91	5.79|5.79	3.66|3.66	0.41972|0.41972	5.79|5.79	3.66|3.66	0.41972|0.41972	.|.	.|0.235751	.|0.49305	.|D	.|0.000145	T|T	0.40767|0.40767	0.1130|0.1130	M|M	0.71581|0.71581	2.175|2.175	0.37538|0.37538	D|D	0.918201|0.918201	.|P;B;P	.|0.41366	.|0.629;0.437;0.747	.|B;B;B	.|0.42653	.|0.237;0.252;0.394	T|T	0.39333|0.39333	-0.9619|-0.9619	5|10	.|0.20519	.|T	.|0.43	-12.1453|-12.1453	7.9462|7.9462	0.29987|0.29987	0.0:0.7148:0.1878:0.0973|0.0:0.7148:0.1878:0.0973	.|.	.|591;604;615	.|B4DRG7;E9PHA2;Q15003	.|.;.;CND2_HUMAN	K|K	55|615;479;604;604	.|ENSP00000240423:T615K;ENSP00000400774:T479K;ENSP00000405237:T604K;ENSP00000407308:T604K	.|ENSP00000240423:T615K	N|T	+|+	3|2	2|0	2|0	NCAPH|NCAPH	96395486|96395486	96395486|96395486	0.635000|0.635000	0.27199|0.27199	0.848000|0.848000	0.33437|0.33437	0.928000|0.928000	0.56348|0.56348	2.464000|2.464000	0.45067|0.45067	1.424000|1.424000	0.47217|0.47217	0.563000|0.563000	0.77884|0.77884	AAC|ACA		0.438	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2		-1.204169	7	7	67	67	NM_015341		3	6.473595	6.473595	38	0.073171	1	0	0.115264	1	0.119381	3	38	0.073171	A	97031759	C	A	97031759	3	1	33	1	0	0	0	0	1	0	0	0	10209	478	17	5	1898	5	NCAPH	2	97031759	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	67734716	97031759	146167614	3	584											
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95	92	93					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		60.217713	6	6	61	61			19	60.52125	60.52125	27	0.413043	0	0	0	1	0	19	27	0.413043	T	198267483	C	T	198267483	3	4	33	1	0	0	0	0	1	0	0	0	14149	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	101235724	198267483	44931890	4	585											
CNTN3	5067	broad.mit.edu	37	3	74535622	74535622	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr3:74535622T>G	ENST00000263665.6	-	3	370	c.343A>C	c.(343-345)Aaa>Caa	p.K115Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	115	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AACTGAAGTTTGGCTTCTCTG	0.338																																						ENST00000263665.6											0			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(343-345)Aaa>Caa	contactin 3 (plasmacytoma associated)						129	125	126					3																	74535622		2203	4300	6503	SO:0001583	missense	5067			cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74535622T>G	AB040929	AB040929	CCDS33790.1	CCDS33790.1	3p12.3	2013-02-11			2013-02-11			ENSG00000113805	ENSG00000113805	ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	2173	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601325	601325		PANG		PANG		8661054, 8586965	8661054, 8586965	Standard	Standard	XM_005264757	XM_005264757		Approved	BIG-1	uc003dpm.1	uc003dpm.1	Q9P232	Q9P232	OTTHUMG00000158813	OTTHUMG00000158813	ENST00000263665.6:c.343A>C	3.37:g.74535622T>G	ENSP00000263665:p.Lys115Gln			p.K115Q	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	3	370	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	115	Ig-like C2-type 1.	B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.343A>C	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	T	9.295	1.051643	0.19827	.	.	ENSG00000113805	ENST00000263665	T	0.67345	-0.26	5.83	5.83	0.93111	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.107337	0.64402	D	0.000006	T	0.51449	0.1675	L	0.28608	0.87	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.34551	-0.9824	10	0.22109	T	0.4	.	9.4441	0.38686	0.1582:0.0:0.0:0.8418	.	115	Q9P232	CNTN3_HUMAN	Q	115	ENSP00000263665:K115Q	ENSP00000263665:K115Q	K	-	1	0	0	CNTN3	74618312	74618312	0.823000	0.29233	0.117000	0.21633	0.715000	0.41141	4.097000	0.57741	2.230000	0.72887	0.477000	0.44152	AAA		0.338	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1		24.055014	-11	-11	45	45	NM_020872		9	26.833137	26.833137	31	0.225	0	0	0	1	0	9	31	0.225	G	74535622	T	G	74535622	3	3	33	1	0	0	0	0	1	0	0	0	3642	1821	63	5	2823	5	CNTN3	3	74535622	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		74535622	123486808	5	586											
EVC	2121	broad.mit.edu	37	4	5735137	5735137	+	Missense_Mutation	SNP	C	C	T	rs201583621		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr4:5735137C>T	ENST00000264956.6	+	5	861	c.677C>T	c.(676-678)aCg>aTg	p.T226M	EVC_ENST00000509451.1_Missense_Mutation_p.T226M|EVC_ENST00000382674.2_Missense_Mutation_p.T226M	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	226					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T226M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CATTTGGACACGGCACTGAGG	0.478													C|||	1	0.000199681	0	0	5008	,	,		21258	0		0	False		,,,				2504	0.001					ENST00000382674.2											1	Substitution - Missense(1)	endometrium(1)	NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(676-678)aCg>aTg	Ellis van Creveld syndrome	C	MET/THR	0,4406		0,0,2203	307	283	291		677	2.9	0	4		291	2,8598	2.2+/-6.3	0,2,4298	yes	missense	EVC	NM_153717.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	226/993	5735137	2,13004	2203	4300	6503	SO:0001583	missense	2121			muscle organ development	integral to membrane		g.chr4:5735137C>T	AF216184	AF216184	CCDS3383.1	CCDS3383.1	4p16	2008-07-03			2008-07-03			ENSG00000072840	ENSG00000072840	ENSG00000072840	ENSG00000072840				3497	3497	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604831	604831						10700184	10700184	Standard	Standard	NM_153717	NM_153717		Approved	DWF-1	uc003gil.1	uc003gil.1	P57679	P57679	OTTHUMG00000090427	OTTHUMG00000090427	ENST00000264956.6:c.677C>T	4.37:g.5735137C>T	ENSP00000264956:p.Thr226Met		EVC_ENST00000509451.1_Missense_Mutation_p.T226M|EVC_ENST00000264956.6_Missense_Mutation_p.T226M	p.T226M			P57679	EVC_HUMAN			5	861	+		Myeloproliferative disorder(84;0.117)	226			Missense_Mutation	SNP	ENST00000264956.6	37	c.677C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	3.901	-0.021972	0.07634	0.0	2.33E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.54479	0.57;0.57;0.61	4.73	2.88	0.33553	4.73	2.88	0.33553	.	0.947586	0.08861	N	0.883086	T	0.37265	0.0997	N	0.19112	0.55	0.09310	N	1	B	0.25719	0.132	B	0.19148	0.024	T	0.26744	-1.0094	10	0.52906	T	0.07	.	9.2585	0.37597	0.1429:0.7772:0.0:0.0798	.	226	P57679	EVC_HUMAN	M	226	ENSP00000264956:T226M;ENSP00000372120:T226M;ENSP00000426774:T226M	ENSP00000264956:T226M	T	+	2	0	0	EVC	5786038	5786038	0.000000	0.05858	0.006000	0.13384	0.078000	0.17371	0.536000	0.23129	1.121000	0.41925	-0.143000	0.13931	ACG		0.478	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		84.684322	-12	-12	338	338			42	113.687387	113.687387	221	0.159696	0	0	0	1	0	42	221	0.159696	T	5735137	C	T	5735137	3	4	33	1	0	0	0	0	1	0	0	0	5285	536	19	1	695	1	EVC	4	5735137	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08		5735137	185419139	6	587											
SLIT3	6586	broad.mit.edu	37	5	168175312	168175312	+	Silent	SNP	G	G	A	rs116182795		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr5:168175312G>A	ENST00000519560.1	-	20	2684	c.2265C>T	c.(2263-2265)acC>acT	p.T755T	SLIT3_ENST00000332966.8_Silent_p.T755T|SLIT3_ENST00000404867.3_Silent_p.T755T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	755					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTACAGCTCGGTCACATCCT	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		19021	0		0	False		,,,				2504	0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1											0			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2263-2265)acC>acT	slit homolog 3 (Drosophila)			12,4394	19.1+/-41.9	0,12,2191	116	116	116		2265	-8.6	0.5	5	dbSNP_132	116	0,8600		0,0,4300	no	coding-synonymous	SLIT3	NM_003062.2		0,12,6491	AA,AG,GG		0.0,0.2724,0.0923		755/1524	168175312	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	6586			apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168175312G>A	AB011538	AB011538	CCDS4369.1, CCDS64311.1	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347	ENSG00000184347	ENSG00000184347				11087	11087	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603745	603745	"slit (Drosophila) homolog 3"	SLIL2	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	9693030, 9813312	Standard	Standard	NM_001271946	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	uc010jjg.4	O75094	O75094	OTTHUMG00000130409	OTTHUMG00000130409	ENST00000519560.1:c.2265C>T	5.37:g.168175312G>A			SLIT3_ENST00000404867.3_Silent_p.T755T|SLIT3_ENST00000332966.8_Silent_p.T755T	p.T755T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2684	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	755		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.2265C>T	CCDS4369.1																																																																																									0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4		49.084573	-12	-12	108	108	NM_003062		20	56.224624	56.224624	74	0.212766	0	0	0	1	0	20	74	0.212766	A	168175312	G	A	168175312	2	1	33	1	0	0	0	0	0	0	0	1	14741	1103	39	1		1	SLIT3	5	168175312	Silent	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		168175312	12739948	7	588											
DPCR1	135656	broad.mit.edu	37	6	30919829	30919829	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919829C>G	ENST00000462446.1	+	2	3616	c.3588C>G	c.(3586-3588)tgC>tgG	p.C1196W	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.C38W			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	320						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AGACCATATGCACCAAAGGGA	0.478																																						ENST00000462446.1											0			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3586-3588)tgC>tgG	diffuse panbronchiolitis critical region 1						165	163	164					6																	30919829		2203	4300	6503	SO:0001583	missense	135656				integral to membrane		g.chr6:30919829C>G	AB064272	AB064272	CCDS4692.1, CCDS4692.2	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			2008-02-05			ENSG00000168631	ENSG00000168631	ENSG00000168631	ENSG00000168631				21666	21666	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613928	613928						12185533, 10677310	12185533, 10677310	Standard	Standard	NM_080870	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	uc003nsg.2	Q3MIW9	Q3MIW9	OTTHUMG00000031104	OTTHUMG00000031104	ENST00000462446.1:c.3588C>G	6.37:g.30919829C>G	ENSP00000417182:p.Cys1196Trp		HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.C38W	p.C1196W			Q3MIW9	DPCR1_HUMAN			2	3616	+			320		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	c.3588C>G	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355578	0.24598	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.24151	1.87;1.91	1.31	0.0321	0.14174	1.31	0.0321	0.14174	.	.	.	.	.	T	0.11836	0.0288	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.66979	0.948	T	0.11275	-1.0594	9	0.66056	D	0.02	14.3943	7.3939	0.26926	0.0:0.4153:0.5847:0.0	.	1196	E9PEI6	.	W	1196;320;38	ENSP00000417182:C1196W;ENSP00000305948:C38W	ENSP00000305948:C38W	C	+	3	2	2	DPCR1	31027808	31027808	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-6.305000	0.00071	-0.193000	0.10415	0.448000	0.29417	TGC		0.478	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3		56.952938	-7	-7	65	65	NM_080870		22	61.575972	61.575972	64	0.255814	0	0	0	1	0	22	64	0.255814	G	30919829	C	G	30919829	3	3	33	1	0	0	0	0	1	0	0	0	4712	718	25	5	3594	5	DPCR1	6	30919829	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08		30919829	140195238	8	589			1	4		4	4	274	C		1.766166e-12
DPCR1	135656	broad.mit.edu	37	6	30919895	30919895	+	Silent	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919895C>G	ENST00000462446.1	+	2	3682	c.3654C>G	c.(3652-3654)acC>acG	p.T1218T	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Silent_p.T60T			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	342						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCACACTGACCACTGAGACCA	0.453																																						ENST00000462446.1											0			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3652-3654)acC>acG	diffuse panbronchiolitis critical region 1						137	138	137					6																	30919895		2203	4300	6503	SO:0001819	synonymous_variant	135656				integral to membrane		g.chr6:30919895C>G	AB064272	AB064272	CCDS4692.1, CCDS4692.2	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			2008-02-05			ENSG00000168631	ENSG00000168631	ENSG00000168631	ENSG00000168631				21666	21666	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613928	613928						12185533, 10677310	12185533, 10677310	Standard	Standard	NM_080870	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	uc003nsg.2	Q3MIW9	Q3MIW9	OTTHUMG00000031104	OTTHUMG00000031104	ENST00000462446.1:c.3654C>G	6.37:g.30919895C>G			HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Silent_p.T60T	p.T1218T			Q3MIW9	DPCR1_HUMAN			2	3682	+			342		C9IZC0|Q658M7|Q8WYN2	Silent	SNP	ENST00000462446.1	37	c.3654C>G	CCDS4692.2																																																																																									0.453	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3		55.781895	-19	-19	60	60	NM_080870		23	60.83442	60.83442	68	0.252747	0	0	0	1	0	23	68	0.252747	G	30919895	C	G	30919895	2	3	33	1	0	0	0	0	0	0	0	1	4712	581	21	5		5	DPCR1	6	30919895	Silent	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	66	30919895	140195172	9	590			1	4		4	4	274	C		1.766166e-12
DPCR1	135656	broad.mit.edu	37	6	30919999	30919999	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30919999C>G	ENST00000462446.1	+	2	3786	c.3758C>G	c.(3757-3759)tCt>tGt	p.S1253C	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.S95C			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	377						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GGAGACAAATCTCTCACTACT	0.418																																						ENST00000462446.1											0			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3757-3759)tCt>tGt	diffuse panbronchiolitis critical region 1						136	134	135					6																	30919999		2203	4300	6503	SO:0001583	missense	135656				integral to membrane		g.chr6:30919999C>G	AB064272	AB064272	CCDS4692.1, CCDS4692.2	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			2008-02-05			ENSG00000168631	ENSG00000168631	ENSG00000168631	ENSG00000168631				21666	21666	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613928	613928						12185533, 10677310	12185533, 10677310	Standard	Standard	NM_080870	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	uc003nsg.2	Q3MIW9	Q3MIW9	OTTHUMG00000031104	OTTHUMG00000031104	ENST00000462446.1:c.3758C>G	6.37:g.30919999C>G	ENSP00000417182:p.Ser1253Cys		HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.S95C	p.S1253C			Q3MIW9	DPCR1_HUMAN			2	3786	+			377		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	c.3758C>G	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232160	0.39498	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.29142	1.58;1.69	3.69	1.87	0.25490	3.69	1.87	0.25490	.	.	.	.	.	T	0.24160	0.0585	L	0.40543	1.245	0.09310	N	1	D	0.59767	0.986	D	0.67103	0.949	T	0.04693	-1.0933	9	0.72032	D	0.01	3.1604	5.9248	0.19104	0.0:0.7496:0.0:0.2504	.	1253	E9PEI6	.	C	1253;377;95	ENSP00000417182:S1253C;ENSP00000305948:S95C	ENSP00000305948:S95C	S	+	2	0	0	DPCR1	31027978	31027978	0.002000	0.14202	0.001000	0.08648	0.012000	0.07955	1.470000	0.35354	0.338000	0.23692	-0.271000	0.10264	TCT		0.418	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3		84.157864	9	9	74	74	NM_080870		31	92.645945	92.645945	101	0.234848	0	0	0	1	0	31	101	0.234848	G	30919999	C	G	30919999	3	3	33	1	0	0	0	0	1	0	0	0	4712	913	32	5	3764	5	DPCR1	6	30919999	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	104	30919999	140195068	10	591			1	4		4	4	274	C		1.766166e-12
DPCR1	135656	broad.mit.edu	37	6	30920102	30920102	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:30920102C>G	ENST00000462446.1	+	2	3889	c.3861C>G	c.(3859-3861)atC>atG	p.I1287M	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.I129M			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	411						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TGAGTTCTATCACATCAGAAG	0.438																																						ENST00000462446.1											0			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3859-3861)atC>atG	diffuse panbronchiolitis critical region 1						96	94	95					6																	30920102		2203	4300	6503	SO:0001583	missense	135656				integral to membrane		g.chr6:30920102C>G	AB064272	AB064272	CCDS4692.1, CCDS4692.2	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			2008-02-05			ENSG00000168631	ENSG00000168631	ENSG00000168631	ENSG00000168631				21666	21666	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613928	613928						12185533, 10677310	12185533, 10677310	Standard	Standard	NM_080870	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	uc003nsg.2	Q3MIW9	Q3MIW9	OTTHUMG00000031104	OTTHUMG00000031104	ENST00000462446.1:c.3861C>G	6.37:g.30920102C>G	ENSP00000417182:p.Ile1287Met		HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.I129M	p.I1287M			Q3MIW9	DPCR1_HUMAN			2	3889	+			411		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	c.3861C>G	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496829	0.44352	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.26810	1.71;1.79	3.61	-0.797	0.10909	3.61	-0.797	0.10909	.	.	.	.	.	T	0.13114	0.0318	L	0.33485	1.01	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.06058	-1.0848	9	0.49607	T	0.09	-0.0029	0.696	0.00899	0.1925:0.3853:0.1883:0.2339	.	1287	E9PEI6	.	M	1287;411;129	ENSP00000417182:I1287M;ENSP00000305948:I129M	ENSP00000305948:I129M	I	+	3	3	3	DPCR1	31028081	31028081	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.038000	0.13862	0.006000	0.14734	-0.323000	0.08544	ATC		0.438	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3		138.062749	4	4	81	81	NM_080870		47	143.857231	143.857231	111	0.297468	0	0	0	1	0	47	111	0.297468	G	30920102	C	G	30920102	3	3	33	1	0	0	0	0	1	0	0	0	4712	816	29	5	3867	5	DPCR1	6	30920102	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	103	30920102	140194965	11	592			1	4		4	4	274	C		1.766166e-12
CD2AP	23607	broad.mit.edu	37	6	47573987	47573987	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:47573987C>T	ENST00000359314.5	+	14	1960	c.1504C>T	c.(1504-1506)Ccg>Tcg	p.P502S		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	502					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGAAGGTTGCCGGGCCGTTT	0.378																																						ENST00000359314.5											0			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1504-1506)Ccg>Tcg	CD2-associated protein						117	109	112					6																	47573987		2203	4300	6503	SO:0001583	missense	23607			cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47573987C>T	AF146277	AF146277	CCDS34472.1	CCDS34472.1	6p12	2008-02-05			2008-02-05			ENSG00000198087	ENSG00000198087	ENSG00000198087	ENSG00000198087				14258	14258	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604241	604241						10339567	10339567	Standard	Standard	NM_012120	NM_012120		Approved	CMS	uc003oyw.3	uc003oyw.3	Q9Y5K6	Q9Y5K6	OTTHUMG00000014799	OTTHUMG00000014799	ENST00000359314.5:c.1504C>T	6.37:g.47573987C>T	ENSP00000352264:p.Pro502Ser			p.P502S	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		14	1960	+			502		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.1504C>T	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812460	0.90707	.	.	ENSG00000198087	ENST00000359314	T	0.65549	-0.16	5.72	5.72	0.89469	5.72	5.72	0.89469	.	2.864440	0.01726	N	0.028575	T	0.81394	0.4813	M	0.81497	2.545	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.67573	-0.5636	10	0.48119	T	0.1	-12.2541	19.8711	0.96851	0.0:1.0:0.0:0.0	.	502	Q9Y5K6	CD2AP_HUMAN	S	502	ENSP00000352264:P502S	ENSP00000352264:P502S	P	+	1	0	0	CD2AP	47681946	47681946	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.675000	0.68123	2.689000	0.91719	0.591000	0.81541	CCG		0.378	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		-24.817989	15	15	72	72			4	7.419018	7.419018	129	0.030075	0	0	0	1	0	4	129	0.030075	T	47573987	C	T	47573987	3	4	33	1	0	0	0	0	1	0	0	0	2994	739	26	2	1558	2	CD2AP	6	47573987	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	16653885	47573987	123541080	12	593											
CRISP1	167	broad.mit.edu	37	6	49819827	49819827	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:49819827C>T	ENST00000335847.4	-	3	183	c.82G>A	c.(82-84)Gac>Aac	p.D28N	CRISP1_ENST00000505118.1_Missense_Mutation_p.D28N|CRISP1_ENST00000536021.1_Missense_Mutation_p.D28N|CRISP1_ENST00000329411.5_Missense_Mutation_p.D28N|CRISP1_ENST00000355791.2_Missense_Mutation_p.D28N|CRISP1_ENST00000507853.1_Missense_Mutation_p.D28N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	28					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TTAAATTGGTCTCTAGCTGAT	0.368																																						ENST00000335847.4											0			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(82-84)Gac>Aac	cysteine-rich secretory protein 1						160	162	161					6																	49819827		2203	4300	6503	SO:0001583	missense	167			fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49819827C>T	D38451	D38451	CCDS4931.1, CCDS4932.1	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812	ENSG00000124812	ENSG00000124812				304	304	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601193	601193	"acidic epididymal glycoprotein-like 1"	AEGL1	"acidic epididymal glycoprotein-like 1"	AEGL1		8838800	8838800	Standard	Standard	NM_001131	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	uc003ozw.2	P54107	P54107	OTTHUMG00000014827	OTTHUMG00000014827	ENST00000335847.4:c.82G>A	6.37:g.49819827C>T	ENSP00000338276:p.Asp28Asn		CRISP1_ENST00000329411.5_Missense_Mutation_p.D28N|CRISP1_ENST00000536021.1_Missense_Mutation_p.D28N|CRISP1_ENST00000507853.1_Missense_Mutation_p.D28N|CRISP1_ENST00000505118.1_Missense_Mutation_p.D28N|CRISP1_ENST00000355791.2_Missense_Mutation_p.D28N	p.D28N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			3	183	-	Lung NSC(77;0.0358)		28		B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.82G>A	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	C	6.231	0.410788	0.11812	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01;3.01	4.93	-1.26	0.09376	4.93	-1.26	0.09376	CAP domain (2);	3.392110	0.00732	N	0.000946	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.43798	-0.9369	9	.	.	.	.	10.4782	0.44678	0.0:0.5052:0.0:0.4948	.	28;28	P54107-2;P54107	.;CRIS1_HUMAN	N	28	ENSP00000425020:D28N;ENSP00000338276:D28N;ENSP00000348044:D28N;ENSP00000331317:D28N;ENSP00000427589:D28N;ENSP00000441798:D28N	.	D	-	1	0	0	CRISP1	49927786	49927786	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.682000	0.05185	-0.829000	0.04268	-2.010000	0.00438	GAC		0.368	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2		-29.226784	-31	-31	95	95	NM_001131		4	7.331254	7.331254	144	0.027027	0	0	0	1	0	4	144	0.027027	T	49819827	C	T	49819827	3	4	33	1	0	0	0	0	1	0	0	0	3879	913	32	3	691	3	CRISP1	6	49819827	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	2245840	49819827	121295240	13	594											
C6orf72	116254	broad.mit.edu	37	6	149901014	149901014	+	Silent	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr6:149901014C>T	ENST00000367419.5	+	5	595	c.474C>T	c.(472-474)aaC>aaT	p.N158N		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	158						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TAGTTAAGAACCGGGGAGTAC	0.353																																						ENST00000367419.5											0										c.(472-474)aaC>aaT	glycoprotein integral membrane 1						68	65	66					6																	149901014		2202	4300	6502	SO:0001819	synonymous_variant	116254						g.chr6:149901014C>T	BC014320	BC014320	CCDS5216.1	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211	ENSG00000055211	ENSG00000055211				21074	21074	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 6 open reading frame 72"	C6orf72	"chromosome 6 open reading frame 72"	C6orf72				Standard	Standard	NM_138785	NM_138785		Approved	dJ12G14.2	uc003qmq.1	uc003qmq.1	Q9NU53	Q9NU53	OTTHUMG00000015789	OTTHUMG00000015789	ENST00000367419.5:c.474C>T	6.37:g.149901014C>T				p.N158N	NM_138785.3	NP_620140.1					5	595	+					B2RDY7|E1P5A2	Silent	SNP	ENST00000367419.5	37	c.474C>T	CCDS5216.1																																																																																									0.353	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1		4.811017	-2	-2	53	53	NM_138785		3	7.160935	7.160935	17	0.15	0	0	0	1	0	3	17	0.15	T	149901014	C	T	149901014	2	4	33	1	0	0	0	0	0	0	0	1	2371	506	18	3		3	C6orf72	6	149901014	Silent	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	100081187	149901014	21214053	14	595											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		114.419026	-30	-30	82	82	NM_002072		35	114.522009	114.522009	41	0.460526	0	0	0	1	0	35	41	0.460526	G	80409488	T	G	80409488	3	3	33	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		80409488	60803943	15	596											
CAMK1D	57118	broad.mit.edu	37	10	12867686	12867686	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr10:12867686G>A	ENST00000378847.3	+	10	1373	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	CAMK1D_ENST00000378845.1_Missense_Mutation_p.D346N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	346	Ser-rich.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAGCCAAAAAGACTGTGCGTA	0.552																																						ENST00000378847.3											0			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(1036-1038)Gac>Aac	calcium/calmodulin-dependent protein kinase ID						138	131	134					10																	12867686		2203	4300	6503	SO:0001583	missense	57118				calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12867686G>A	AF286366	AF286366	CCDS7091.1, CCDS7092.1	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			2003-11-05			ENSG00000183049	ENSG00000183049	ENSG00000183049	ENSG00000183049				19341	19341	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607957	607957						11050006	11050006	Standard	Standard	XM_006717481	XM_006717481		Approved	CKLiK	uc001ilo.3	uc001ilo.3	Q8IU85	Q8IU85	OTTHUMG00000017683	OTTHUMG00000017683	ENST00000378847.3:c.1036G>A	10.37:g.12867686G>A	ENSP00000368124:p.Asp346Asn		CAMK1D_ENST00000378845.1_Missense_Mutation_p.D346N	p.D346N	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	10	1373	+			346	Ser-rich.	B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.1036G>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172228	0.78452	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.68331	-0.32;-0.27	4.92	4.92	0.64577	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	N	0.25890	0.77	0.38139	D	0.938405	B;B	0.33694	0.421;0.421	B;B	0.27608	0.081;0.059	T	0.58509	-0.7624	10	0.38643	T	0.18	-26.2489	17.3077	0.87199	0.0:0.0:1.0:0.0	.	346;346	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	N	346	ENSP00000368124:D346N;ENSP00000368122:D346N	ENSP00000368122:D346N	D	+	1	0	0	CAMK1D	12907692	12907692	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.225000	0.78051	2.563000	0.86464	0.650000	0.86243	GAC		0.552	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1		-18.939539	-17	-17	131	131	NM_020397		5	10.140164	10.140164	122	0.03937	0	0	0	1	0	5	122	0.03937	A	12867686	G	A	12867686	3	1	33	1	0	0	0	0	1	0	0	0	2597	942	33	3	1074	3	CAMK1D	10	12867686	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		12867686	122667061	16	597											
ZNF195	7748	broad.mit.edu	37	11	3380662	3380662	+	Missense_Mutation	SNP	C	C	T	rs376637698		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:3380662C>T	ENST00000399602.4	-	6	1702	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	ZNF195_ENST00000354599.6_Missense_Mutation_p.E454K|ZNF195_ENST00000526601.1_Missense_Mutation_p.E507K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Missense_Mutation_p.E503K|ZNF195_ENST00000429541.2_Missense_Mutation_p.E458K|ZNF195_ENST00000343338.7_Missense_Mutation_p.E458K	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTTCCACATTCGTCACATTTG	0.413																																						ENST00000354599.6											0			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1360-1362)Gaa>Aaa	zinc finger protein 195						158	160	159					11																	3380662		2056	4223	6279	SO:0001583	missense	0			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380662C>T			CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			2013-01-08			ENSG00000005801	ENSG00000005801	ENSG00000005801	ENSG00000005801		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	12986	12986	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602187	602187						9344677	9344677	Standard	Standard	NM_001130520	NM_001130520		Approved		uc001lxt.3	uc001lxt.3	O14628	O14628	OTTHUMG00000011694	OTTHUMG00000011694	ENST00000399602.4:c.1576G>A	11.37:g.3380662C>T	ENSP00000382511:p.Glu526Lys		ZNF195_ENST00000399602.4_Missense_Mutation_p.E526K|ZNF195_ENST00000429541.2_Missense_Mutation_p.E458K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000343338.7_Missense_Mutation_p.E458K|ZNF195_ENST00000526601.1_Missense_Mutation_p.E507K|ZNF195_ENST00000005082.9_Missense_Mutation_p.E503K	p.E454K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1464	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	526		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.1360G>A	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	13.72	2.320050	0.41096	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2	1.27	-0.151	0.13411	1.27	-0.151	0.13411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11665	0.0284	N	0.16903	0.455	0.09310	N	1	P;P;D;P;D;P	0.67145	0.875;0.937;0.994;0.922;0.996;0.922	P;B;D;B;D;B	0.70227	0.807;0.209;0.946;0.133;0.968;0.133	T	0.28554	-1.0040	9	0.72032	D	0.01	.	6.6009	0.22701	0.0:0.6997:0.3003:0.0	.	507;385;503;458;526;454	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	K	454;526;458;458;503;507	ENSP00000346613:E454K;ENSP00000382511:E526K;ENSP00000344483:E458K;ENSP00000387998:E458K;ENSP00000005082:E503K;ENSP00000435828:E507K	ENSP00000005082:E503K	E	-	1	0	0	ZNF195	3337238	3337238	0.000000	0.05858	0.006000	0.13384	0.150000	0.21749	-0.845000	0.04340	0.638000	0.30545	0.305000	0.20034	GAA		0.413	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2		128.865516	-1	-1	167	167			41	129.101913	129.101913	51	0.445652	0	0	0	1	0	41	51	0.445652	T	3380662	C	T	3380662	3	4	33	1	0	0	0	0	1	0	0	0	17755	893	31	1	317	1	ZNF195	11	3380662	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08		3380662	131625854	17	598											
TTC17	55761	broad.mit.edu	37	11	43429111	43429111	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:43429111C>T	ENST00000039989.4	+	15	2062	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.A683V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	683					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAAGCTTTGGCCATCAATAGC	0.388																																						ENST00000039989.4											0			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2047-2049)gCc>gTc	tetratricopeptide repeat domain 17						68	60	62					11																	43429111		2203	4300	6503	SO:0001583	missense	55761					binding	g.chr11:43429111C>T	AK001540	AK001540	CCDS31466.1	CCDS31466.1	11p11.2	2013-01-10			2013-01-10			ENSG00000052841	ENSG00000052841	ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	25596	25596	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_018259	NM_018259		Approved	FLJ10890	uc001mxi.3	uc001mxi.3	Q96AE7	Q96AE7	OTTHUMG00000166398	OTTHUMG00000166398	ENST00000039989.4:c.2048C>T	11.37:g.43429111C>T	ENSP00000039989:p.Ala683Val		TTC17_ENST00000299240.6_Missense_Mutation_p.A683V|TTC17_ENST00000526774.1_3'UTR	p.A683V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			15	2062	+			683		G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2048C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284051	0.23392	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.61274	0.12;0.12	5.63	4.72	0.59763	5.63	4.72	0.59763	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.395423	0.29814	N	0.011133	T	0.55162	0.1903	L	0.55213	1.73	0.26891	N	0.967325	B;B;B	0.27997	0.197;0.19;0.164	B;B;B	0.30316	0.111;0.114;0.067	T	0.54214	-0.8327	10	0.52906	T	0.07	-4.8348	14.8381	0.70201	0.0:0.9309:0.0:0.0691	.	683;683;683	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	V	683	ENSP00000299240:A683V;ENSP00000039989:A683V	ENSP00000039989:A683V	A	+	2	0	0	TTC17	43385687	43385687	0.822000	0.29219	0.908000	0.35775	0.440000	0.31957	1.552000	0.36244	1.395000	0.46643	-0.189000	0.12847	GCC		0.388	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2		-2.414808	-19	-19	58	58	NM_018259		3	6.888134	6.888134	44	0.06383	0	0	0	1	0	3	44	0.06383	T	43429111	C	T	43429111	3	4	33	1	0	0	0	0	1	0	0	0	16681	739	26	2	2106	2	TTC17	11	43429111	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	40048449	43429111	91577405	18	599											
USP35	57558	broad.mit.edu	37	11	77911266	77911266	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr11:77911266G>A	ENST00000529308.1	+	5	1285	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.E73K|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	342					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCACTCCCACGAAGCCTTCCA	0.622																																						ENST00000529308.1											0			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1024-1026)Gaa>Aaa	ubiquitin specific peptidase 35						72	73	73					11																	77911266		1982	4152	6134	SO:0001583	missense	57558			ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77911266G>A	AB037793	AB037793	CCDS41693.1	CCDS41693.1	11q13.4	2008-02-05	2005-08-08		2008-02-05	2005-08-08			ENSG00000118369		ENSG00000118369		"Ubiquitin-specific peptidases"	"Ubiquitin-specific peptidases"	20061	20061	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"ubiquitin specific protease 35"		"ubiquitin specific protease 35"			12838346	12838346	Standard	Standard	NM_020798	NM_020798		Approved	KIAA1372	uc021qny.1	uc021qny.1	Q9P2H5	Q9P2H5			ENST00000529308.1:c.1024G>A	11.37:g.77911266G>A	ENSP00000431876:p.Glu342Lys		USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.E73K	p.E342K	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		5	1285	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		342			Missense_Mutation	SNP	ENST00000529308.1	37	c.1024G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377826	0.82682	.	.	ENSG00000118369	ENST00000528910;ENST00000529308;ENST00000526425	T;T;T	0.42131	0.98;0.98;0.98	4.7	4.7	0.59300	4.7	4.7	0.59300	Armadillo-like helical (1);	0.000000	0.53938	D	0.000055	T	0.61590	0.2359	L	0.57536	1.79	0.54753	D	0.999988	D	0.89917	1.0	D	0.80764	0.994	T	0.62854	-0.6766	10	0.51188	T	0.08	-28.922	17.8481	0.88737	0.0:0.0:1.0:0.0	.	342	Q9P2H5	UBP35_HUMAN	K	98;342;73	ENSP00000436001:E98K;ENSP00000431876:E342K;ENSP00000434942:E73K	ENSP00000434942:E73K	E	+	1	0	0	USP35	77588914	77588914	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	9.657000	0.98554	2.437000	0.82529	0.655000	0.94253	GAA		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1		15.404560	-32	-32	34	34	XM_290527		7	18.334803	18.334803	28	0.2	0	0	0	1	0	7	28	0.2	A	77911266	G	A	77911266	3	1	33	1	0	0	0	0	1	0	0	0	17063	1059	37	1	1038	1	USP35	11	77911266	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08	34482155	77911266	57095250	19	600											
FANCM	57697	broad.mit.edu	37	14	45668011	45668011	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr14:45668011G>T	ENST00000267430.5	+	22	5966	c.5881G>T	c.(5881-5883)Gtt>Ttt	p.V1961F	FANCM_ENST00000542564.2_Missense_Mutation_p.V1935F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1961	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGTATTCATGTTCCAACAGT	0.358								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5											0			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5881-5883)Gtt>Ttt	Fanconi anemia, complementation group M						82	84	83					14																	45668011		2203	4300	6503	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45668011G>T	AK001672	AK001672	CCDS32070.1	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		ENSG00000187790		"Fanconi anemia, complementation groups"	"Fanconi anemia, complementation groups"	23168	23168	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609644	609644	"KIAA1596"	KIAA1596	"KIAA1596"	KIAA1596		10997877, 16116422	10997877, 16116422	Standard	Standard	NM_020937	NM_020937		Approved	FAAP250	uc001wwd.4	uc001wwd.4	Q8IYD8	Q8IYD8			ENST00000267430.5:c.5881G>T	14.37:g.45668011G>T	ENSP00000267430:p.Val1961Phe		FANCM_ENST00000542564.2_Missense_Mutation_p.V1935F	p.V1961F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			22	5966	+			1961	Interaction with FAAP24 and EME1.	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5881G>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.07|10.07	1.249543|1.249543	0.22880|0.22880	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250;ENST00000555484	.|T;T;T	.|0.21361	.|2.61;2.61;2.01	5.71|5.71	2.89|2.89	0.33648|0.33648	5.71|5.71	2.89|2.89	0.33648|0.33648	.|RuvA domain 2-like (1);	.|0.127059	.|0.52532	.|D	.|0.000063	T|T	0.21022|0.21022	0.0506|0.0506	M|M	0.63843|0.63843	1.955|1.955	0.31377|0.31377	N|N	0.67947|0.67947	.|B;B	.|0.15719	.|0.003;0.014	.|B;B	.|0.17433	.|0.007;0.018	T|T	0.11421|0.11421	-1.0588|-1.0588	5|10	.|0.56958	.|D	.|0.05	.|.	7.6476|7.6476	0.28329|0.28329	0.1436:0.0:0.7221:0.1343|0.1436:0.0:0.7221:0.1343	.|.	.|1935;1961	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	F|F	928|1961;1935;1477;87	.|ENSP00000267430:V1961F;ENSP00000442493:V1935F;ENSP00000452033:V1477F	.|ENSP00000267430:V1961F	C|V	+|+	2|1	0|0	0|0	FANCM|FANCM	44737761|44737761	44737761|44737761	0.966000|0.966000	0.33281|0.33281	0.906000|0.906000	0.35671|0.35671	0.366000|0.366000	0.29705|0.29705	1.731000|1.731000	0.38135|0.38135	0.330000|0.330000	0.23485|0.23485	-0.152000|-0.152000	0.13540|0.13540	TGT|GTT		0.358	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1		47.085225	-7	-7	52	52	XM_048128		16	48.143281	48.143281	31	0.340426	1	0	2.48551e-13	1	2.66962e-13	16	31	0.340426	T	45668011	G	T	45668011	3	4	33	1	0	0	0	0	1	0	0	0	5671	1377	48	5	5967	5	FANCM	14	45668011	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		45668011	61681529	20	601											
NEDD4	4734	broad.mit.edu	37	15	56208903	56208903	+	Missense_Mutation	SNP	T	T	C	rs148700559		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr15:56208903T>C	ENST00000508342.1	-	1	426	c.127A>G	c.(127-129)Acg>Gcg	p.T43A	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.T43A|NEDD4_ENST00000506154.1_Missense_Mutation_p.T43A	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	43					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ACGTTAGACGTTGAAATCCGT	0.443																																						ENST00000508342.1											0			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(127-129)Acg>Gcg	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	T	,ALA/THR	0,4386		0,0,2193	186	168	174		,127	-10.8	0	15	dbSNP_134	174	1,8581	1.2+/-3.3	0,1,4290	no	intron,missense	NEDD4	NM_006154.2,NM_198400.2	,58	0,1,6483	CC,CT,TT		0.0117,0.0,0.0077	,benign	,43/1248	56208903	1,12967	2193	4291	6484	SO:0001583	missense	4734			development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56208903T>C	D42055	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869	ENSG00000069869	ENSG00000069869				7727	7727	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	"receptor-potentiating factor 1"	602278	602278	"neural precursor cell expressed, developmentally down-regulated 4"		"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	9073511, 8649367	Standard	Standard	XR_243101	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	uc002adi.3	P46934	P46934	OTTHUMG00000132015	OTTHUMG00000132015	ENST00000508342.1:c.127A>G	15.37:g.56208903T>C	ENSP00000424827:p.Thr43Ala		NEDD4_ENST00000338963.2_Missense_Mutation_p.T43A|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.T43A	p.T43A	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	426	-			43		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.127A>G		.	.	.	.	.	.	.	.	.	.	T	2.182	-0.387367	0.04932	0.0	1.17E-4	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.40756	1.02;1.02;1.02	5.39	-10.8	0.00216	5.39	-10.8	0.00216	.	1.573570	0.04489	N	0.379220	T	0.16342	0.0393	.	.	.	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12863	-1.0531	9	0.07482	T	0.82	.	9.7125	0.40254	0.0922:0.3362:0.0:0.5716	.	43;43;43	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	A	43	ENSP00000424827:T43A;ENSP00000345530:T43A;ENSP00000422705:T43A	ENSP00000345530:T43A	T	-	1	0	0	NEDD4	53996195	53996195	0.008000	0.16893	0.000000	0.03702	0.904000	0.53231	-0.498000	0.06420	-2.554000	0.00477	-1.345000	0.01243	ACG		0.443	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1		51.372713	3	3	135	135	NM_198400		22	63.957842	63.957842	104	0.174603	0	0	0	1	0	22	104	0.174603	C	56208903	T	C	56208903	3	2	33	1	0	0	0	0	1	0	0	0	10310	1725	60	4	3932	4	NEDD4	15	56208903	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		56208903	46322489	21	602											
KRT16	3868	broad.mit.edu	37	17	39767698	39767698	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr17:39767698G>A	ENST00000301653.4	-	3	734	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	224	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AACACCCGGCGCAGGCCATTG	0.617																																						ENST00000301653.4											0			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(670-672)Cgc>Tgc	keratin 16						59	59	59					17																	39767698		2203	4300	6503	SO:0001583	missense	3868			cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767698G>A	S79867	S79867	CCDS11401.1	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832	ENSG00000186832	ENSG00000186832		"-", "Intermediate filaments type I, keratins (acidic)"	"-", "Intermediate filaments type I, keratins (acidic)"	6423	6423	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"focal non-epidermolytic palmoplantar keratoderma"	"focal non-epidermolytic palmoplantar keratoderma"	148067	148067						2451124, 16831889	2451124, 16831889	Standard	Standard	NM_005557	NM_005557		Approved	NEPPK	uc002hxg.4	uc002hxg.4	P08779	P08779	OTTHUMG00000133495	OTTHUMG00000133495	ENST00000301653.4:c.670C>T	17.37:g.39767698G>A	ENSP00000301653:p.Arg224Cys			p.R224C	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			3	734	-		Breast(137;0.000307)	224	Coil 1B.|Rod.	A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.670C>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458154	0.43634	.	.	ENSG00000186832	ENST00000301653	D	0.92545	-3.06	4.84	4.84	0.62591	4.84	4.84	0.62591	Filament (1);	0.000000	0.52532	D	0.000074	D	0.91549	0.7331	M	0.70108	2.13	0.54753	D	0.999988	B	0.33964	0.434	B	0.32465	0.146	D	0.91905	0.5535	10	0.66056	D	0.02	.	18.4976	0.90870	0.0:0.0:1.0:0.0	.	224	P08779	K1C16_HUMAN	C	224	ENSP00000301653:R224C	ENSP00000301653:R224C	R	-	1	0	0	KRT16	37021224	37021224	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	3.201000	0.51059	2.666000	0.90696	0.561000	0.74099	CGC		0.617	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1		-6.614947	0	0	97	97	NM_005557		4	8.306926	8.306926	68	0.055556	0	0	0	1	0	4	68	0.055556	A	39767698	G	A	39767698	3	1	33	1	0	0	0	0	1	0	0	0	8453	1087	38	1	775	1	KRT16	17	39767698	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		39767698	41427512	22	603											
THOC4	10189	broad.mit.edu	37	17	79848635	79848635	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr17:79848635G>A	ENST00000331204.4	-	2	325	c.299C>T	c.(298-300)gCc>gTc	p.A100V	ANAPC11_ENST00000571024.2_5'Flank|ANAPC11_ENST00000572639.1_5'Flank|ANAPC11_ENST00000577747.1_5'Flank|ALYREF_ENST00000505490.2_Missense_Mutation_p.A107V|ANAPC11_ENST00000357385.3_5'Flank|ANAPC11_ENST00000571874.2_5'Flank|ANAPC11_ENST00000577425.1_5'Flank|ANAPC11_ENST00000584314.1_5'Flank|ANAPC11_ENST00000578550.1_5'Flank|ANAPC11_ENST00000344877.5_5'Flank|ANAPC11_ENST00000579978.1_5'Flank|ANAPC11_ENST00000574924.2_5'Flank|ANAPC11_ENST00000578544.1_5'Flank|ANAPC11_ENST00000392376.3_5'Flank|ANAPC11_ENST00000582222.1_5'Flank|ANAPC11_ENST00000583839.1_5'Flank|ANAPC11_ENST00000579133.1_5'Flank|ANAPC11_ENST00000572851.2_5'Flank|ANAPC11_ENST00000571570.1_5'Flank|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	100	Ala/Arg/Gly-rich.|Interaction with HHV-8 ORF57 protein and with ICP27 from HHV-1. {ECO:0000250}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										CTCCACGCCGGCACCACCGCC	0.532																																						ENST00000331204.4											0										c.(298-300)gCc>gTc	Aly/REF export factor						66	65	66					17																	79848635		2203	4300	6503	SO:0001583	missense	10189			intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79848635G>A	AF047002	AF047002	CCDS32768.1, CCDS32768.2	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684	ENSG00000183684	ENSG00000183684		"THO complex subunits", "RNA binding motif (RRM) containing"	"THO complex subunits", "RNA binding motif (RRM) containing"	19071	19071	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604171	604171	"THO complex 4"	THOC4	"THO complex 4"	THOC4		11032328	11032328	Standard	Standard	NM_005782	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	uc002kbu.2	Q86V81	Q86V81	OTTHUMG00000160470	OTTHUMG00000160470	ENST00000331204.4:c.299C>T	17.37:g.79848635G>A	ENSP00000331817:p.Ala100Val		ALYREF_ENST00000512673.1_5'UTR|ALYREF_ENST00000505490.2_Missense_Mutation_p.A107V	p.A100V	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN			2	325	-			100	Ala/Arg/Gly-rich.	O43672	Missense_Mutation	SNP	ENST00000331204.4	37	c.299C>T		.	.	.	.	.	.	.	.	.	.	G	18.18	3.566266	0.65651	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	T;T	0.13657	2.57;2.57	4.72	4.72	0.59763	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	L	0.55990	1.75	0.47341	D	0.999392	B	0.23128	0.08	B	0.20384	0.029	T	0.02966	-1.1088	10	0.34782	T	0.22	.	17.8453	0.88728	0.0:0.0:1.0:0.0	.	107	E9PB61	.	V	100;107	ENSP00000331817:A100V;ENSP00000421592:A107V	ENSP00000331817:A100V	A	-	2	0	0	THOC4	77441931	77441931	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	4.381000	0.59587	2.617000	0.88574	0.655000	0.94253	GCC		0.532	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			-1.189910	-8	-8	60	60	NM_005782		4	8.293763	8.293763	48	0.076923	0	0	0	1	0	4	48	0.076923	A	79848635	G	A	79848635	3	1	33	1	0	0	0	0	1	0	0	0	15864	1203	42	2	494	2	THOC4	17	79848635	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08	40080937	79848635	1346575	23	604											
ANO8	57719	broad.mit.edu	37	19	17439127	17439127	+	Frame_Shift_Del	DEL	C	C	-	rs374120885		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr19:17439127delC	ENST00000159087.4	-	13	2228	c.2070delG	c.(2068-2070)gggfs	p.G690fs		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	690					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|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)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CCCCGTCGGGCCCCTGGTCTC	0.741																																						ENST00000159087.4											0			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2068-2070)gggfs	anoctamin 8						8	9	9					19																	17439127		2053	4141	6194	SO:0001589	frameshift_variant	57719				chloride channel complex	chloride channel activity	g.chr19:17439127delC	AB046843	AB046843	CCDS32949.1	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	29329	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610216	610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	10997877, 24692353	Standard	Standard	NM_020959	NM_020959		Approved		uc002ngf.2	uc002ngf.2	Q9HCE9	Q9HCE9			ENST00000159087.4:c.2070delG	19.37:g.17439127delC	ENSP00000159087:p.Gly690fs			p.G690fs	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			13	2228	-			690		A6NIJ0	Frame_Shift_Del	DEL	ENST00000159087.4	37	c.2070delG	CCDS32949.1																																																																																									0.741	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	.	.	1	1	13	13	XM_050644		2			4	0.33						2	4	0.33	-	17439127	C	-	17439127	7	5	33	1	0	1	0	1	0	0	0	0	703	726	26	0	1652	0	ANO8	19	17439127	Frame_Shift_Del	DEL	C	TCGA-V4-A9F4-01A-11D-A39W-08		17439127	41689856	24	605											
DHX34	9704	broad.mit.edu	37	19	47882984	47882984	+	Silent	SNP	C	C	T			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	g.chr19:47882984C>T	ENST00000328771.4	+	14	3073	c.2724C>T	c.(2722-2724)agC>agT	p.S908S		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	908					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGCTTTTTAGCCGGTCTTTGG	0.632																																						ENST00000328771.4											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2722-2724)agC>agT	DEAH (Asp-Glu-Ala-His) box polypeptide 34						102	88	92					19																	47882984		2203	4300	6503	SO:0001819	synonymous_variant	9704				intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47882984C>T	D50924	D50924	CCDS12700.1	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	"DEAH-boxes"	16719	16719	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615475	615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	10708517, 8590280	Standard	Standard	NM_014681	NM_014681		Approved	KIAA0134	uc010xyn.2	uc010xyn.2	Q14147	Q14147	OTTHUMG00000149959	OTTHUMG00000149959	ENST00000328771.4:c.2724C>T	19.37:g.47882984C>T				p.S908S	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	14	3073	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	908		B4DMY8	Silent	SNP	ENST00000328771.4	37	c.2724C>T	CCDS12700.1																																																																																									0.632	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3		-22.712553	14	14	174	174	NM_014681		4	7.229425	7.229425	121	0.032	0	0	0	1	0	4	121	0.032	T	47882984	C	T	47882984	2	4	33	1	0	0	0	0	0	0	0	1	4507	738	26	2		2	DHX34	19	47882984	Silent	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	30443857	47882984	11245999	25	606											
WDR3	10885	broad.mit.edu	37	1	118477140	118477140	+	Silent	SNP	C	C	T			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr1:118477140C>T	ENST00000349139.5	+	3	263	c.216C>T	c.(214-216)tgC>tgT	p.C72C	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	72						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.C72C(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTTGCTTATGCCCCTCCCCAG	0.428																																						ENST00000349139.5											1	Substitution - coding silent(1)	lung(1)	breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(214-216)tgC>tgT	WD repeat domain 3						120	116	117					1																	118477140		2203	4300	6503	SO:0001819	synonymous_variant	10885				nuclear membrane|nucleolus		g.chr1:118477140C>T	AF083217	AF083217	CCDS898.1	CCDS898.1	1p12	2013-01-09			2013-01-09			ENSG00000065183	ENSG00000065183	ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	"WD repeat domain containing"	12755	12755	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604737	604737						10395803	10395803	Standard	Standard	NM_006784	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	uc010oxe.1	Q9UNX4	Q9UNX4	OTTHUMG00000012197	OTTHUMG00000012197	ENST00000349139.5:c.216C>T	1.37:g.118477140C>T			WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	p.C72C	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	3	263	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)				Silent	SNP	ENST00000349139.5	37	c.216C>T	CCDS898.1																																																																																									0.428	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2		-5.087674	36	36	171	171	NM_006784		3	6.380182	6.380182	52	0.054545	0	0	0	1	0	3	52	0.054545	T	118477140	C	T	118477140	2	4	34	1	0	0	0	0	0	0	0	1	17282	747	26	2		2	WDR3	1	118477140	Silent	SNP	C	TCGA-V4-A9F5-01A-11D-A39W-08		118477140	130773481	1	607											
FAT1	2195	broad.mit.edu	37	4	187538910	187538910	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr4:187538910C>T	ENST00000441802.2	-	10	9039	c.8830G>A	c.(8830-8832)Gat>Aat	p.D2944N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2944	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAATCAGCATCCGTGGTACTT	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2											0			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(8830-8832)Gat>Aat	FAT atypical cadherin 1						108	106	107					4																	187538910		1896	4100	5996	SO:0001583	missense	2195			actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187538910C>T	X87241	X87241	CCDS47177.1	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	"Cadherins / Cadherin-related"	3595	3595	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cadherin-related family member 8"	"cadherin-related family member 8"	600976	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	8586420	Standard	Standard	XM_005262834	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	uc003izf.3	Q14517	Q14517	OTTHUMG00000160320	OTTHUMG00000160320	ENST00000441802.2:c.8830G>A	4.37:g.187538910C>T	ENSP00000406229:p.Asp2944Asn			p.D2944N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	9039	-			2944	Cadherin 27.		Missense_Mutation	SNP	ENST00000441802.2	37	c.8830G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773144	0.69992	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.78003	-1.14	4.89	4.89	0.63831	4.89	4.89	0.63831	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	H	0.99555	4.625	0.80722	D	1	P	0.48350	0.909	P	0.54060	0.741	D	0.95385	0.8476	10	0.87932	D	0	.	18.6013	0.91248	0.0:1.0:0.0:0.0	.	2944	Q14517	FAT1_HUMAN	N	2944;2946	ENSP00000406229:D2944N	ENSP00000260147:D2946N	D	-	1	0	0	FAT1	187775904	187775904	1.000000	0.71417	0.387000	0.26183	0.007000	0.05969	7.574000	0.82434	2.698000	0.92095	0.650000	0.86243	GAT		0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		93.715052	-12	-12	80	80	NM_005245		31	93.914295	93.914295	39	0.442857	0	0	0	1	0	31	39	0.442857	T	187538910	C	T	187538910	3	4	34	1	0	0	0	0	1	0	0	0	5689	855	30	3	5008	3	FAT1	4	187538910	Missense_Mutation	SNP	C	TCGA-V4-A9F5-01A-11D-A39W-08		187538910	3615366	2	608											
CMYA5	202333	broad.mit.edu	37	5	79032425	79032425	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr5:79032425A>C	ENST00000446378.2	+	2	7868	c.7837A>C	c.(7837-7839)Aag>Cag	p.K2613Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2613					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAGAAGCAAAGGCAGTAGG	0.418																																						ENST00000446378.2											0			NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7837-7839)Aag>Cag	cardiomyopathy associated 5						65	67	66					5																	79032425		1862	4100	5962	SO:0001583	missense	202333				perinuclear region of cytoplasm		g.chr5:79032425A>C	AW755254, AL831986	AW755254, AL831986	CCDS47238.1	CCDS47238.1	5q14.1	2013-02-11			2013-02-11			ENSG00000164309	ENSG00000164309	ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	14305	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	"genethonin-3", "tripartite motif-containing 76"	612193	612193	"chromosome 5 open reading frame 10"	C5orf10	"chromosome 5 open reading frame 10"	C5orf10		14688250	14688250	Standard	Standard	NM_153610	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	uc003kgc.3	Q8N3K9	Q8N3K9	OTTHUMG00000162548	OTTHUMG00000162548	ENST00000446378.2:c.7837A>C	5.37:g.79032425A>C	ENSP00000394770:p.Lys2613Gln			p.K2613Q	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7868	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2613		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7837A>C	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838706	0.51057	.	.	ENSG00000164309	ENST00000446378	T	0.28895	1.59	5.14	3.97	0.46021	5.14	3.97	0.46021	.	0.341296	0.25419	N	0.030815	T	0.42630	0.1211	L	0.49126	1.545	0.20196	N	0.999921	D	0.76494	0.999	D	0.64144	0.922	T	0.19614	-1.0300	10	0.56958	D	0.05	.	7.5711	0.27909	0.9017:0.0:0.0983:0.0	.	2613	Q8N3K9	CMYA5_HUMAN	Q	2613	ENSP00000394770:K2613Q	ENSP00000394770:K2613Q	K	+	1	0	0	CMYA5	79068181	79068181	0.411000	0.25384	0.989000	0.46669	0.566000	0.35808	1.060000	0.30530	0.800000	0.34041	0.459000	0.35465	AAG		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1		62.220762	-5	-5	44	44	NM_153610		19	62.303635	62.303635	23	0.452381	0	0	0	1	0	19	23	0.452381	C	79032425	A	C	79032425	3	2	34	1	0	0	0	0	1	0	0	0	3590	15	1	5	7843	5	CMYA5	5	79032425	Missense_Mutation	SNP	A	TCGA-V4-A9F5-01A-11D-A39W-08		79032425	101882835	3	609											
COL9A1	1297	broad.mit.edu	37	6	70964709	70964709	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr6:70964709C>T	ENST00000357250.6	-	24	1780	c.1622G>A	c.(1621-1623)gGt>gAt	p.G541D	COL9A1_ENST00000320755.7_Missense_Mutation_p.G298D|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G298D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	541	Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GCCATCCACACCTGGCAAACC	0.453																																						ENST00000357250.6											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1621-1623)gGt>gAt	collagen, type IX, alpha 1						140	124	129					6																	70964709		2203	4300	6503	SO:0001583	missense	1297			axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964709C>T			CCDS4971.1, CCDS47447.1	CCDS4971.1, CCDS47447.1	6q13	2013-05-07			2013-05-07			ENSG00000112280	ENSG00000112280	ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	2217	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120210	120210						1429648	1429648	Standard	Standard	NM_001851	NM_001851		Approved		uc003pfg.4	uc003pfg.4	P20849	P20849	OTTHUMG00000014988	OTTHUMG00000014988	ENST00000357250.6:c.1622G>A	6.37:g.70964709C>T	ENSP00000349790:p.Gly541Asp		COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G298D|COL9A1_ENST00000320755.7_Missense_Mutation_p.G298D	p.G541D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			24	1780	-			541	Triple-helical region (COL2).	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1622G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541624	0.65085	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99619	-5.52;-6.28;-5.77	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.99454	4.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	D	0.96412	0.9305	10	0.87932	D	0	.	17.6661	0.88203	0.0:1.0:0.0:0.0	.	541;298;114	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	D	541;298;298	ENSP00000349790:G541D;ENSP00000315252:G298D;ENSP00000359530:G298D	ENSP00000315252:G298D	G	-	2	0	0	COL9A1	71021430	71021430	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.634000	0.61325	2.680000	0.91292	0.655000	0.94253	GGT		0.453	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		60.930084	-1	-1	48	48			16	60.930069	60.930069	0	1	0	0	0	1	0	16	0	1	T	70964709	C	T	70964709	3	4	34	1	0	0	0	0	1	0	0	0	3707	507	18	3	1203	3	COL9A1	6	70964709	Missense_Mutation	SNP	C	TCGA-V4-A9F5-01A-11D-A39W-08		70964709	100150358	4	610											
GPAA1	8733	broad.mit.edu	37	8	145138937	145138937	+	Missense_Mutation	SNP	G	G	C	rs566122290	byFrequency	TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr8:145138937G>C	ENST00000355091.4	+	5	731	c.610G>C	c.(610-612)Gtc>Ctc	p.V204L	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.V144L	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	204					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGATGTCAATGTCACTGGTAG	0.532																																						ENST00000355091.4											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19						c.(610-612)Gtc>Ctc	glycosylphosphatidylinositol anchor attachment 1						87	92	91					8																	145138937		2158	4256	6414	SO:0001583	missense	8733			attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145138937G>C	AB006969	AB006969	CCDS43776.1	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858	ENSG00000197858	ENSG00000197858				4446	4446	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"GPI transamidase subunit"	"GPI transamidase subunit"	603048	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"		"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	9828142	Standard	Standard	NM_003801	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	uc003zax.3	O43292	O43292	OTTHUMG00000165438	OTTHUMG00000165438	ENST00000355091.4:c.610G>C	8.37:g.145138937G>C	ENSP00000347206:p.Val204Leu		GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.V144L	p.V204L	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	731	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		204		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	c.610G>C	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394711	0.25205	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000361036;ENST00000524418	.	.	.	5.47	-0.0141	0.13982	5.47	-0.0141	0.13982	.	0.544817	0.20464	N	0.091823	T	0.21186	0.0510	N	0.14661	0.345	0.09310	N	1	B;B	0.18166	0.02;0.026	B;B	0.23716	0.047;0.048	T	0.28839	-1.0031	9	0.09338	T	0.73	-22.8332	10.121	0.42621	0.4187:0.0:0.5813:0.0	.	204;144	O43292;O43292-2	GPAA1_HUMAN;.	L	204;132;144;190	.	ENSP00000347206:V204L	V	+	1	0	0	GPAA1	145210925	145210925	0.734000	0.28142	0.357000	0.25798	0.941000	0.58515	0.750000	0.26334	0.044000	0.15775	0.561000	0.74099	GTC		0.532	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1		-17.399770	-26	-26	56	56	NM_003801		4	8.81788	8.81788	108	0.035714	0	0	0	1	0	4	108	0.035714	C	145138937	G	C	145138937	3	2	34	1	0	0	0	0	1	0	0	0	6587	1377	48	5	628	5	GPAA1	8	145138937	Missense_Mutation	SNP	G	TCGA-V4-A9F5-01A-11D-A39W-08		145138937	1225085	5	611											
MAPKAPK5	8550	broad.mit.edu	37	12	112306587	112306587	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr12:112306587delG	ENST00000551404.2	+	5	423	c.315delG	c.(313-315)atgfs	p.M105fs	MAPKAPK5_ENST00000550735.2_Frame_Shift_Del_p.M105fs|MAPKAPK5_ENST00000546394.1_Intron			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						TGGAGATGATGGAAGGGGGAG	0.403																																						ENST00000550735.2											0			endometrium(1)|lung(11)|ovary(1)	13						c.(313-315)atgfs	mitogen-activated protein kinase-activated protein kinase 5						25	23	23					12																	112306587		1879	4099	5978	SO:0001589	frameshift_variant	8550			signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112306587delG	AF032437	AF032437	CCDS44975.1, CCDS44976.1	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			2012-05-30			ENSG00000089022	ENSG00000089022	ENSG00000089022	ENSG00000089022				6889	6889	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606723	606723						9628874	9628874	Standard	Standard	NM_003668	NM_003668		Approved	PRAK	uc001tta.4	uc001tta.4	Q8IW41	Q8IW41	OTTHUMG00000169605	OTTHUMG00000169605	ENST00000551404.2:c.315delG	12.37:g.112306587delG	ENSP00000449381:p.Met105fs		MAPKAPK5_ENST00000546394.1_Intron|MAPKAPK5_ENST00000551404.2_Frame_Shift_Del_p.M105fs	p.M105fs	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			5	1071	+			105	Protein kinase.	B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Frame_Shift_Del	DEL	ENST00000551404.2	37	c.315delG	CCDS44975.1																																																																																									0.403	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	.	.	1	1	4	4	NM_139078		2			4	0.33						2	4	0.33	-	112306587	G	-	112306587	7	5	34	1	0	1	0	1	0	0	0	0	9291	1348	47	0	333	0	MAPKAPK5	12	112306587	Frame_Shift_Del	DEL	G	TCGA-V4-A9F5-01A-11D-A39W-08		112306587	21545308	6	612											
KTN1	3895	broad.mit.edu	37	14	56094706	56094706	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr14:56094706A>G	ENST00000395314.3	+	6	1108	c.1040A>G	c.(1039-1041)gAt>gGt	p.D347G	KTN1_ENST00000413890.2_Missense_Mutation_p.D347G|KTN1_ENST00000395308.1_Missense_Mutation_p.D347G|KTN1_ENST00000395311.1_Missense_Mutation_p.D347G|KTN1_ENST00000416613.1_Missense_Mutation_p.D347G|KTN1_ENST00000438792.2_Missense_Mutation_p.D347G|KTN1_ENST00000395309.3_Missense_Mutation_p.D347G	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	347					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTGAAGGAAGATGCTGCTGCT	0.413			T	RET	papillary thryoid																																	ENST00000416613.1		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1039-1041)gAt>gGt	kinectin 1 (kinesin receptor)						119	101	107					14																	56094706		2203	4300	6503	SO:0001583	missense	0			microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56094706A>G			CCDS41957.1, CCDS41958.1, CCDS41959.1	CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			2008-05-02			ENSG00000126777	ENSG00000126777	ENSG00000126777	ENSG00000126777				6467	6467	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600381	600381						9605849	9605849	Standard	Standard	NM_001079521	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	uc001xcc.3	Q86UP2	Q86UP2	OTTHUMG00000140312	OTTHUMG00000140312	ENST00000395314.3:c.1040A>G	14.37:g.56094706A>G	ENSP00000378725:p.Asp347Gly		KTN1_ENST00000395309.3_Missense_Mutation_p.D347G|KTN1_ENST00000438792.2_Missense_Mutation_p.D347G|KTN1_ENST00000413890.2_Missense_Mutation_p.D347G|KTN1_ENST00000395314.3_Missense_Mutation_p.D347G|KTN1_ENST00000395308.1_Missense_Mutation_p.D347G|KTN1_ENST00000395311.1_Missense_Mutation_p.D347G	p.D347G			Q86UP2	KTN1_HUMAN			5	1112	+			347		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.1040A>G	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839734	0.91117	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.104646	0.42053	D	0.000780	T	0.66567	0.2802	M	0.62723	1.935	0.40129	D	0.97669	D;D;P;D	0.76494	0.975;0.999;0.923;0.975	P;D;P;P	0.87578	0.775;0.998;0.753;0.775	T	0.68648	-0.5353	10	0.52906	T	0.07	-14.6423	15.8076	0.78527	1.0:0.0:0.0:0.0	.	347;347;347;347	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	G	347	ENSP00000394992:D347G;ENSP00000378720:D347G;ENSP00000391964:D347G;ENSP00000378725:D347G;ENSP00000378719:D347G;ENSP00000378722:D347G;ENSP00000388807:D347G	ENSP00000378719:D347G	D	+	2	0	0	KTN1	55164459	55164459	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.714000	0.74692	2.219000	0.72066	0.533000	0.62120	GAT		0.413	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		55.662827	6	6	41	41			18	55.662827	55.662827	18	0.5	0	0	0	1	0	18	18	0.5	G	56094706	A	G	56094706	3	3	34	1	0	0	0	0	1	0	0	0	8585	333	12	4	1058	4	KTN1	14	56094706	Missense_Mutation	SNP	A	TCGA-V4-A9F5-01A-11D-A39W-08		56094706	51254834	7	613											
EXOC5	10640	broad.mit.edu	37	14	57676363	57676363	+	Silent	SNP	T	T	C			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr14:57676363T>C	ENST00000413566.2	-	17	2219	c.1860A>G	c.(1858-1860)caA>caG	p.Q620Q	EXOC5_ENST00000340918.7_Silent_p.Q555Q	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	620					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TGTAGGAATATTGTTGAAGAT	0.388																																						ENST00000413566.2											0			breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1858-1860)caA>caG	exocyst complex component 5						118	104	109					14																	57676363		1900	4132	6032	SO:0001819	synonymous_variant	10640			exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57676363T>C	U85946	U85946	CCDS45111.1	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367	ENSG00000070367	ENSG00000070367				10696	10696	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604469	604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	9119050	Standard	Standard	XM_005267272	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	uc001xct.3	O00471	O00471	OTTHUMG00000171309	OTTHUMG00000171309	ENST00000413566.2:c.1860A>G	14.37:g.57676363T>C			EXOC5_ENST00000340918.7_Silent_p.Q555Q	p.Q620Q	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN			17	2219	-			620		B2R6C5	Silent	SNP	ENST00000413566.2	37	c.1860A>G	CCDS45111.1																																																																																									0.388	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1		29.570653	0	0	24	24	NM_006544		9	29.80843	29.80843	14	0.391304	0	0	0	1	0	9	14	0.391304	C	57676363	T	C	57676363	2	2	34	1	0	0	0	0	0	0	0	1	5307	1490	52	4		4	EXOC5	14	57676363	Silent	SNP	T	TCGA-V4-A9F5-01A-11D-A39W-08	1581657	57676363	49673177	8	614											
CYFIP1	23191	broad.mit.edu	37	15	22926017	22926017	+	Silent	SNP	T	T	A			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr15:22926017T>A	ENST00000313077.7	+	3	284	c.159T>A	c.(157-159)gtT>gtA	p.V53V	CYFIP1_ENST00000560848.1_Silent_p.V53V	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATGCATTTGTTACTGGCATCG	0.463																																						ENST00000313077.7											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(157-159)gtT>gtA	cytoplasmic FMR1 interacting protein 1						154	136	142					15																	22926017		2203	4300	6503	SO:0001819	synonymous_variant	23191			axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22926017T>A	D38549	D38549	CCDS73695.1, CCDS73696.1	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			2008-07-18			ENSG00000068793	ENSG00000273749	ENSG00000068793	ENSG00000273749				13759	13759	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322	606322						11438699	11438699	Standard	Standard	XM_005272543	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	uc001yus.3	Q7L576	Q7L576	OTTHUMG00000129100	OTTHUMG00000129100	ENST00000313077.7:c.159T>A	15.37:g.22926017T>A			CYFIP1_ENST00000560848.1_Silent_p.V53V	p.V53V	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	3	284	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	53			Silent	SNP	ENST00000313077.7	37	c.159T>A	CCDS10009.1																																																																																									0.463	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2		-19.496976	16	16	159	159	NM_014608		4	6.733701	6.733701	108	0.035714	0	0	0	1	0	4	108	0.035714	A	22926017	T	A	22926017	2	1	34	1	0	0	0	0	0	0	0	1	4137	1741	61	5		5	CYFIP1	15	22926017	Silent	SNP	T	TCGA-V4-A9F5-01A-11D-A39W-08		22926017	79605375	9	615											
TANC2	26115	broad.mit.edu	37	17	61498656	61498656	+	Silent	SNP	G	G	A			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr17:61498656G>A	ENST00000424789.2	+	25	5317	c.5313G>A	c.(5311-5313)ccG>ccA	p.P1771P	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.P1781P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1771					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCCCAGGCCGTTGCTGCATT	0.522																																						ENST00000424789.2											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(5311-5313)ccG>ccA	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2																																			SO:0001819	synonymous_variant	26115					binding	g.chr17:61498656G>A	AB032974	AB032974	CCDS45754.1	CCDS45754.1	17q23.3	2013-01-11			2013-01-11				ENSG00000170921		ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	30212	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	"rolling pebbles homolog B (Drosophila)"	615047	615047								Standard	Standard	NM_025185	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	uc002jal.4	Q9HCD6	Q9HCD6			ENST00000424789.2:c.5313G>A	17.37:g.61498656G>A			RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.P1781P	p.P1771P	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	5317	+			1771		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.5313G>A	CCDS45754.1																																																																																									0.522	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		-7.127507	-9	-9	88	88			3	6.318111	6.318111	59	0.048387	0	0	0	1	0	3	59	0.048387	A	61498656	G	A	61498656	2	1	34	1	0	0	0	0	0	0	0	1	15542	1132	40	1		1	TANC2	17	61498656	Silent	SNP	G	TCGA-V4-A9F5-01A-11D-A39W-08		61498656	19696554	10	616											
ARHGDIA	396	broad.mit.edu	37	17	79827106	79827106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr17:79827106G>A	ENST00000269321.7	-	5	493	c.358C>T	c.(358-360)Cga>Tga	p.R120*	ARHGDIA_ENST00000584461.1_Nonsense_Mutation_p.R120*|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000541078.2_Nonsense_Mutation_p.R120*|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000580685.1_Nonsense_Mutation_p.R120*|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000400721.4_Nonsense_Mutation_p.R120*	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	120					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTATCTCTCGGTTAACCTGC	0.642																																						ENST00000269321.7											0			endometrium(1)|lung(1)|prostate(1)	3						c.(358-360)Cga>Tga	Rho GDP dissociation inhibitor (GDI) alpha						70	68	69					17																	79827106		2203	4300	6503	SO:0001587	stop_gained	396			anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79827106G>A	BC028333	BC028333	CCDS11788.1, CCDS58609.1	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20			2005-12-20				ENSG00000141522		ENSG00000141522				678	678	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601925	601925		GDIA1		GDIA1		9186513	9186513	Standard	Standard	NM_001185077	NM_001185077		Approved	RHOGDI	uc002kbq.3	uc002kbq.3	P52565	P52565			ENST00000269321.7:c.358C>T	17.37:g.79827106G>A	ENSP00000269321:p.Arg120*		ARHGDIA_ENST00000580685.1_Nonsense_Mutation_p.R120*|ARHGDIA_ENST00000541078.2_Nonsense_Mutation_p.R120*|ARHGDIA_ENST00000400721.4_Nonsense_Mutation_p.R120*|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Nonsense_Mutation_p.R120*	p.R120*	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	493	-	all_neural(118;0.0878)|Ovarian(332;0.12)		120		A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Nonsense_Mutation	SNP	ENST00000269321.7	37	c.358C>T	CCDS11788.1	.	.	.	.	.	.	.	.	.	.	T	39	7.431408	0.98279	.	.	ENSG00000141522	ENST00000269321;ENST00000541078;ENST00000400721	.	.	.	4.45	-0.408	0.12381	4.45	-0.408	0.12381	.	0.288011	0.33161	N	0.005205	.	.	.	.	.	.	0.46078	D	0.998853	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8482	6.1098	0.20094	0.1016:0.0757:0.5587:0.264	.	.	.	.	X	120	.	ENSP00000269321:R120X	R	-	1	2	2	ARHGDIA	77420395	77420395	0.992000	0.36948	0.092000	0.20876	0.353000	0.29299	1.520000	0.35899	-0.565000	0.06061	-0.520000	0.04383	CGA		0.642	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2		51.858239	6	6	54	54	NM_004309		17	51.883246	51.883246	19	0.472222	0	0	0	1	0	17	19	0.472222	A	79827106	G	A	79827106	4	1	34	1	0	0	0	0	0	1	0	0	890	1124	39	1	264	1	ARHGDIA	17	79827106	Nonsense_Mutation	SNP	G	TCGA-V4-A9F5-01A-11D-A39W-08	18328450	79827106	1368104	11	617											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		64.970964	-12	-12	69	69	NM_002067		21	65.046538	65.046538	25	0.456522	0	0	0	1	0	21	25	0.456522	T	3118942	A	T	3118942	3	4	34	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9F5-01A-11D-A39W-08		3118942	56010041	12	618											
C3	718	broad.mit.edu	37	19	6710848	6710848	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	g.chr19:6710848G>T	ENST00000245907.6	-	13	1580	c.1488C>A	c.(1486-1488)aaC>aaA	p.N496K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	496					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GCCTGCCCTTGTTCATGATCT	0.667																																						ENST00000245907.6											0			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(1486-1488)aaC>aaA	complement component 3						35	38	37					19																	6710848		2203	4300	6503	SO:0001583	missense	718			complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6710848G>T	J04763	J04763	CCDS32883.1	CCDS32883.1	19p13.3-p13.2	2014-09-17			2014-09-17			ENSG00000125730	ENSG00000125730	ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	"Complement system", "Endogenous ligands"	1318	1318	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700	120700								Standard	Standard	NM_000064	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	uc002mfm.3	P01024	P01024	OTTHUMG00000150335	OTTHUMG00000150335	ENST00000245907.6:c.1488C>A	19.37:g.6710848G>T	ENSP00000245907:p.Asn496Lys			p.N496K	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	13	1580	-			496		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1488C>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806118	0.50421	.	.	ENSG00000125730	ENST00000245907	T	0.62639	0.01	5.31	5.31	0.75309	5.31	5.31	0.75309	Alpha-2-macroglobulin, N-terminal 2 (1);	0.123057	0.64402	D	0.000001	T	0.78477	0.4289	M	0.83852	2.665	0.31869	N	0.619951	D	0.56746	0.977	D	0.66979	0.948	T	0.83210	-0.0074	10	0.87932	D	0	.	11.957	0.52986	0.0841:0.0:0.9159:0.0	.	496	P01024	CO3_HUMAN	K	496	ENSP00000245907:N496K	ENSP00000245907:N496K	N	-	3	2	2	C3	6661848	6661848	1.000000	0.71417	0.993000	0.49108	0.051000	0.14879	3.236000	0.51336	2.499000	0.84300	0.655000	0.94253	AAC		0.667	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		48.229842	-1	-1	27	27	NM_000064		15	48.448793	48.448793	10	0.6	1	0	2.32078e-09	1	2.32078e-09	15	10	0.6	T	6710848	G	T	6710848	3	4	34	1	0	0	0	0	1	0	0	0	2204	1368	48	5	3619	5	C3	19	6710848	Missense_Mutation	SNP	G	TCGA-V4-A9F5-01A-11D-A39W-08	3591906	6710848	52418135	13	619											
GNB1	2782	broad.mit.edu	37	1	1735887	1735887	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr1:1735887C>T	ENST00000378609.4	-	7	732	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	134					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		ACGACTCACGCGCACGTTCCC	0.493																																						ENST00000378609.4											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(400-402)cGc>cAc	guanine nucleotide binding protein (G protein), beta polypeptide 1						79	69	72					1																	1735887		2203	4300	6503	SO:0001583	missense	2782			cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1735887C>T	BC004186	BC004186	CCDS34.1, CCDS72685.1	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			2013-01-10			ENSG00000078369	ENSG00000078369	ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	"WD repeat domain containing"	4396	4396	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139380	139380								Standard	Standard	NM_002074	NM_002074		Approved		uc001aif.3	uc001aif.3	P62873	P62873	OTTHUMG00000000940	OTTHUMG00000000940	ENST00000378609.4:c.401G>A	1.37:g.1735887C>T	ENSP00000367872:p.Arg134His			p.R134H	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	7	732	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	134		B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.401G>A	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078615	0.76528	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606;ENST00000434686;ENST00000439272	T;T;T	0.01388	4.95;4.95;4.95	5.52	4.61	0.57282	5.52	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053601	0.64402	D	0.000001	T	0.02727	0.0082	L	0.48218	1.51	0.80722	D	1	P	0.46952	0.887	P	0.45660	0.489	T	0.57476	-0.7805	10	0.66056	D	0.02	-16.9547	13.3066	0.60355	0.0:0.9242:0.0:0.0758	.	134	P62873	GBB1_HUMAN	H	134;34;134;134;121	ENSP00000367872:R134H;ENSP00000392765:R134H;ENSP00000399741:R121H	ENSP00000367869:R134H	R	-	2	0	0	GNB1	1725747	1725747	1.000000	0.71417	0.462000	0.27118	0.642000	0.38348	7.556000	0.82233	1.335000	0.45486	0.655000	0.94253	CGC		0.493	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3		47.993721	12	12	56	56	NM_002074		16	48.200317	48.200317	22	0.421053	0	0	0	1	0	16	22	0.421053	T	1735887	C	T	1735887	3	4	35	1	0	0	0	0	1	0	0	0	6515	768	27	1	641	1	GNB1	1	1735887	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		1735887	247514734	1	620											
KIAA0240	23506	broad.mit.edu	37	6	42821420	42821420	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr6:42821420G>A	ENST00000314073.5	+	8	2166	c.1990G>A	c.(1990-1992)Gca>Aca	p.A664T	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	664																	CTTAGGAACCGCACAACCACA	0.428																																						ENST00000314073.5											0										c.(1990-1992)Gca>Aca	GLTSCR1-like						151	130	137					6																	42821420		2203	4300	6503	SO:0001583	missense	23506						g.chr6:42821420G>A	AL833540	AL833540	CCDS34451.1	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624	ENSG00000112624	ENSG00000112624				21111	21111	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"KIAA0240"	KIAA0240	"KIAA0240"	KIAA0240				Standard	Standard	XM_005248972	XM_005248972		Approved		uc003osp.1	uc003osp.1	Q6AI39	Q6AI39	OTTHUMG00000014706	OTTHUMG00000014706	ENST00000314073.5:c.1990G>A	6.37:g.42821420G>A	ENSP00000313933:p.Ala664Thr		GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A664T	p.A664T							8	2166	+					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.1990G>A	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566769	0.13560	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.44881	0.91;0.91	4.88	-8.72	0.00845	4.88	-8.72	0.00845	.	1.206860	0.05800	N	0.611940	T	0.09247	0.0228	L	0.36672	1.1	0.09310	N	0.999996	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.12103	T	0.63	5.0E-4	9.9784	0.41797	0.4926:0.0938:0.4136:0.0	.	664	Q6AI39	K0240_HUMAN	T	664	ENSP00000313933:A664T;ENSP00000377723:A664T	ENSP00000313933:A664T	A	+	1	0	0	KIAA0240	42929398	42929398	0.000000	0.05858	0.004000	0.12327	0.496000	0.33645	-1.124000	0.03260	-1.616000	0.01572	-0.369000	0.07265	GCA		0.428	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3		-8.228927	-1	-1	70	70	NM_015349		3	6.334829	6.334829	63	0.045455	0	0	0	1	0	3	63	0.045455	A	42821420	G	A	42821420	3	1	35	1	0	0	0	0	1	0	0	0	8164	1087	38	1	2012	1	KIAA0240	6	42821420	Missense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		42821420	128293647	2	621											
DNAH11	8701	broad.mit.edu	37	7	21611562	21611562	+	Missense_Mutation	SNP	A	A	G	rs186667584|rs34832072		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr7:21611562A>G	ENST00000409508.3	+	8	1595	c.1564A>G	c.(1564-1566)Act>Gct	p.T522A	DNAH11_ENST00000328843.6_Missense_Mutation_p.T522A	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	522	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						TAAACAGAGCACTTATGACCC	0.368									Kartagener syndrome				A|||	1	0.000199681	8e-04	0	5008	,	,		18601	0		0	False		,,,				2504	0					ENST00000328843.6											0			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						c.(1564-1566)Act>Gct	dynein, axonemal, heavy chain 11	A	ALA/THR	2,3686		0,2,1842	74	73	73		1564	5.4	1	7		73	0,8158		0,0,4079	no	missense	DNAH11	NM_003777.3	58	0,2,5921	GG,GA,AA		0.0,0.0542,0.0169	benign	522/4524	21611562	2,11844	1844	4079	5923	SO:0001583	missense	8701	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.chr7:21611562A>G	U83569	U83569	CCDS64602.1	CCDS64602.1	7p21	2008-07-18	2006-09-04		2008-07-18	2006-09-04							"Axonemal dyneins"	"Axonemal dyneins"	2942	2942	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	603339	"dynein, axonemal, heavy polypeptide 11"		"dynein, axonemal, heavy polypeptide 11"			9256245	9256245	Standard	Standard	NM_001277115	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	uc031swp.1	Q96DT5	Q96DT5			ENST00000409508.3:c.1564A>G	7.37:g.21611562A>G	ENSP00000475939:p.Thr522Ala		DNAH11_ENST00000409508.3_Missense_Mutation_p.T522A	p.T522A			Q96DT5	DYH11_HUMAN			8	1595	+			522	Stem (By similarity).	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1564A>G		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	8.997	0.979171	0.18812	5.42E-4	0.0	ENSG00000105877	ENST00000328843	T	0.56444	0.46	5.36	5.36	0.76844	5.36	5.36	0.76844	Dynein heavy chain, domain-1 (1);	0.517458	0.19639	N	0.109488	T	0.50888	0.1642	M	0.66297	2.02	0.32812	D	0.501522	B	0.16802	0.019	B	0.22152	0.038	T	0.56962	-0.7892	10	0.14252	T	0.57	.	14.3138	0.66434	1.0:0.0:0.0:0.0	.	522	Q96DT5	DYH11_HUMAN	A	522	ENSP00000330671:T522A	ENSP00000330671:T522A	T	+	1	0	0	DNAH11	21578087	21578087	0.085000	0.21516	0.986000	0.45419	0.674000	0.39518	1.208000	0.32345	2.026000	0.59711	0.533000	0.62120	ACT		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		33.953627	6	6	35	35	NM_003777		10	34.173038	34.173038	6	0.625	0	0	0	1	0	10	6	0.625	G	21611562	A	G	21611562	3	3	35	1	0	0	0	0	1	0	0	0	4599	159	6	4	1594	4	DNAH11	7	21611562	Missense_Mutation	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08		21611562	137527101	3	622											
PSD3	23362	broad.mit.edu	37	8	18729316	18729316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr8:18729316G>T	ENST00000327040.8	-	3	1160	c.1058C>A	c.(1057-1059)tCa>tAa	p.S353*	PSD3_ENST00000523619.1_Nonsense_Mutation_p.S288*|PSD3_ENST00000440756.2_Nonsense_Mutation_p.S353*	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	353					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TAAACTACTTGAATTACACAA	0.468																																						ENST00000440756.2											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1057-1059)tCa>tAa	pleckstrin and Sec7 domain containing 3						140	140	140					8																	18729316		2002	4179	6181	SO:0001587	stop_gained	23362			regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729316G>T	AF243495	AF243495	CCDS34854.1, CCDS43720.1	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			2013-01-10			ENSG00000156011	ENSG00000156011	ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	19093	19093	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614440	614440								Standard	Standard	NM_206909	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	uc003wza.3	Q9NYI0	Q9NYI0	OTTHUMG00000163711	OTTHUMG00000163711	ENST00000327040.8:c.1058C>A	8.37:g.18729316G>T	ENSP00000324127:p.Ser353*		PSD3_ENST00000523619.1_Nonsense_Mutation_p.S288*|PSD3_ENST00000327040.8_Nonsense_Mutation_p.S353*	p.S353*			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	1160	-			353		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Nonsense_Mutation	SNP	ENST00000327040.8	37	c.1058C>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445975	0.84101	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	.	.	.	5.49	4.61	0.57282	5.49	4.61	0.57282	.	0.908148	0.09099	N	0.848816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0009	0.41929	0.0929:0.0:0.9071:0.0	.	.	.	.	X	353;353;288	.	ENSP00000324127:S353X	S	-	2	0	0	PSD3	18773596	18773596	0.374000	0.25081	0.007000	0.13788	0.026000	0.11368	2.036000	0.41165	1.322000	0.45245	0.563000	0.77884	TCA		0.468	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		-6.226506	15	15	93	93	NM_015310		3	6.384103	6.384103	56	0.050847	1	0	0.115264	1	0.115264	3	56	0.050847	T	18729316	G	T	18729316	4	4	35	1	0	0	0	0	0	1	0	0	12648	1294	45	5	2177	5	PSD3	8	18729316	Nonsense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		18729316	127634706	4	623											
SCRIB	23513	broad.mit.edu	37	8	144887324	144887324	+	Silent	SNP	A	A	G			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr8:144887324A>G	ENST00000320476.3	-	19	2634	c.2628T>C	c.(2626-2628)atT>atC	p.I876I	SCRIB_ENST00000377533.3_Silent_p.I795I|SCRIB_ENST00000356994.2_Silent_p.I876I	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	876	Interaction with ARHGEF7.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCCCACCAGCAATGCTGAAGC	0.721																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2											0			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2626-2628)atT>atC	scribbled planar cell polarity protein						9	11	11					8																	144887324		2072	4184	6256	SO:0001819	synonymous_variant	23513			activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144887324A>G	AY062238	AY062238	CCDS6411.1, CCDS6412.1	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900	ENSG00000180900	ENSG00000180900				30377	30377	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607733	607733	"scribbled homolog (Drosophila)"		"scribbled homolog (Drosophila)"			11027293, 14681682	11027293, 14681682	Standard	Standard	NM_182706	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	uc003yzo.1	Q14160	Q14160	OTTHUMG00000165154	OTTHUMG00000165154	ENST00000320476.3:c.2628T>C	8.37:g.144887324A>G			SCRIB_ENST00000320476.3_Silent_p.I876I|SCRIB_ENST00000377533.3_Silent_p.I795I	p.I876I	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		19	2634	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		876	Interaction with ARHGEF7.|PDZ 2.	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.2628T>C	CCDS6411.1																																																																																									0.721	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1		6.516331	-10	-10	20	20	NM_015356		3	7.772127	7.772127	12	0.2	0	0	0	1	0	3	12	0.2	G	144887324	A	G	144887324	2	3	35	1	0	0	0	0	0	0	0	1	13937	126	5	4		4	SCRIB	8	144887324	Silent	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08	126158008	144887324	1476698	5	624											
PTPRD	5789	broad.mit.edu	37	9	8389348	8389348	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr9:8389348C>T	ENST00000381196.4	-	34	4813	c.4270G>A	c.(4270-4272)Gcc>Acc	p.A1424T	PTPRD_ENST00000540109.1_Missense_Mutation_p.A1424T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1424T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1014T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1017T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1014T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1411T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1402T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1018T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1017T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1017T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1424	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCAATATAGGCATTTTGCTTC	0.443										TSP Lung(15;0.13)																												ENST00000381196.4											0			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4270-4272)Gcc>Acc	protein tyrosine phosphatase, receptor type, D						190	178	182					9																	8389348		2203	4300	6503	SO:0001583	missense	5789			transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8389348C>T	X54133	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			2013-02-11			ENSG00000153707	ENSG00000153707	ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	9668	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601598	601598						7896816, 8355697	7896816, 8355697	Standard	Standard	NM_002839	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	uc003zkk.3	P23468	P23468	OTTHUMG00000021005	OTTHUMG00000021005	ENST00000381196.4:c.4270G>A	9.37:g.8389348C>T	ENSP00000370593:p.Ala1424Thr		PTPRD_ENST00000537002.1_Missense_Mutation_p.A1014T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1017T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1017T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1411T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1018T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1402T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1017T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1424T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1014T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1424T	p.A1424T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	34	4813	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1424	Tyrosine-protein phosphatase 1.	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4270G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535045	0.96460	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.65	5.65	0.86999	5.65	5.65	0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.73430	2.235	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.998;0.998;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.975;0.987;0.987;0.987;0.993;0.977;0.993;0.999;0.998	T	0.56366	-0.7991	9	.	.	.	.	19.7173	0.96127	0.0:1.0:0.0:0.0	.	1017;1008;1017;1018;1014;1014;1411;1424;1424	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1424;1424;1411;1402;1018;1017;1014;1014;895;1424;1017;1017	ENSP00000370593:A1424T;ENSP00000348812:A1424T;ENSP00000353187:A1411T;ENSP00000351293:A1402T;ENSP00000347373:A1018T;ENSP00000380741:A1017T;ENSP00000380735:A1014T;ENSP00000440515:A1014T;ENSP00000438164:A1424T;ENSP00000417093:A1017T;ENSP00000380731:A1017T	.	A	-	1	0	0	PTPRD	8379348	8379348	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.776000	0.85560	2.661000	0.90470	0.555000	0.69702	GCC		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		2.593658	14	14	126	126			9	19.82106	19.82106	92	0.089109	0	0	0	1	0	9	92	0.089109	T	8389348	C	T	8389348	3	4	35	1	0	0	0	0	1	0	0	0	12799	710	25	2	1508	2	PTPRD	9	8389348	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		8389348	132824083	6	625											
PSIP1	11168	broad.mit.edu	37	9	15506612	15506612	+	Silent	SNP	A	A	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr9:15506612A>T	ENST00000380733.4	-	3	439	c.96T>A	c.(94-96)gcT>gcA	p.A32A	PSIP1_ENST00000380716.4_Silent_p.A32A|PSIP1_ENST00000380715.1_Silent_p.A32A|PSIP1_ENST00000397519.2_Silent_p.A32A|PSIP1_ENST00000380738.4_Silent_p.A32A|PSIP1_ENST00000484265.1_5'UTR			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	32	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTGGCTTTACAGCTCCATCAG	0.348																																						ENST00000380733.4											0			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(94-96)gcT>gcA	PC4 and SFRS1 interacting protein 1						106	113	110					9																	15506612		2203	4300	6503	SO:0001819	synonymous_variant	11168			initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15506612A>T	AF098482	AF098482	CCDS6479.1, CCDS6480.1	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985	ENSG00000164985	ENSG00000164985				9527	9527	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603620	603620	"PC4 and SFRS1 interacting protein 2"	PSIP2	"PC4 and SFRS1 interacting protein 2"	PSIP2		9822615, 9885563	9822615, 9885563	Standard	Standard	NM_033222	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	uc003zlw.4	O75475	O75475	OTTHUMG00000021021	OTTHUMG00000021021	ENST00000380733.4:c.96T>A	9.37:g.15506612A>T			PSIP1_ENST00000397519.2_Silent_p.A32A|PSIP1_ENST00000380716.4_Silent_p.A32A|PSIP1_ENST00000380738.4_Silent_p.A32A|PSIP1_ENST00000380715.1_Silent_p.A32A|PSIP1_ENST00000484265.1_5'UTR	p.A32A			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	3	439	-			32	PWWP.	D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Silent	SNP	ENST00000380733.4	37	c.96T>A	CCDS6479.1																																																																																									0.348	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1		-7.331429	13	13	85	85	NM_033222		3	6.674917	6.674917	61	0.046875	0	0	0	1	0	3	61	0.046875	T	15506612	A	T	15506612	2	4	35	1	0	0	0	0	0	0	0	1	12663	175	7	5		5	PSIP1	9	15506612	Silent	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08	7117264	15506612	125706819	7	626											
HHEX	3087	broad.mit.edu	37	10	94452507	94452507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr10:94452507C>T	ENST00000282728.5	+	3	2388	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	HHEX_ENST00000472590.2_Nonsense_Mutation_p.Q25*|HHEX_ENST00000492654.2_Nonsense_Mutation_p.Q25*	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	197					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						GAGACTAAAACAGGTATGGAC	0.428																																						ENST00000282728.5											0			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(589-591)Cag>Tag	hematopoietically expressed homeobox						123	119	120					10																	94452507		2203	4300	6503	SO:0001587	stop_gained	3087			anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94452507C>T	Z21533	Z21533	CCDS7423.1	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804	ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	"Homeoboxes / ANTP class : NKL subclass"	4901	4901	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604420	604420		PRHX		PRHX		8096636, 8103988	8096636, 8103988	Standard	Standard	NM_002729	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	uc001kid.3	Q03014	Q03014	OTTHUMG00000018762	OTTHUMG00000018762	ENST00000282728.5:c.589C>T	10.37:g.94452507C>T	ENSP00000282728:p.Gln197*		HHEX_ENST00000492654.2_Nonsense_Mutation_p.Q25*|HHEX_ENST00000472590.2_Nonsense_Mutation_p.Q25*	p.Q197*	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			3	2388	+			197		B1AQ17|Q96CE9	Nonsense_Mutation	SNP	ENST00000282728.5	37	c.589C>T	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	C	46	12.659512	0.99686	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	.	.	.	4.49	4.49	0.54785	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.5893	17.3563	0.87336	0.0:1.0:0.0:0.0	.	.	.	.	X	197;25;25	.	ENSP00000282728:Q197X	Q	+	1	0	0	HHEX	94442487	94442487	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.499000	0.81566	2.343000	0.79666	0.484000	0.47621	CAG		0.428	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2		55.317612	-3	-3	91	91			19	56.143615	56.143615	33	0.365385	0	0	0	1	0	19	33	0.365385	T	94452507	C	T	94452507	4	4	35	1	0	0	0	0	0	1	0	0	7091	479	17	3	599	3	HHEX	10	94452507	Nonsense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		94452507	41082240	8	627											
OR51L1	119682	broad.mit.edu	37	11	5020297	5020297	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr11:5020297C>A	ENST00000321543.1	+	1	85	c.85C>A	c.(85-87)Ctc>Atc	p.L29I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	29						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATTCTTGGCTCTCCATCCT	0.433																																						ENST00000321543.1											0			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(85-87)Ctc>Atc	olfactory receptor, family 51, subfamily L, member 1						238	219	225					11																	5020297		2201	4298	6499	SO:0001583	missense	119682			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020297C>A	AB065799	AB065799	CCDS31369.1	CCDS31369.1	11p15.4	2012-08-09			2012-08-09			ENSG00000176798	ENSG00000176798	ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	14759	14759	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004755	NM_001004755		Approved		uc010qyu.2	uc010qyu.2	Q8NGJ5	Q8NGJ5	OTTHUMG00000066605	OTTHUMG00000066605	ENST00000321543.1:c.85C>A	11.37:g.5020297C>A	ENSP00000322156:p.Leu29Ile			p.L29I	NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	85	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	29		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.85C>A	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.982072	0.00448	.	.	ENSG00000176798	ENST00000321543	T	0.16457	2.34	5.58	3.71	0.42584	5.58	3.71	0.42584	.	0.185056	0.26331	N	0.024985	T	0.05410	0.0143	N	0.03281	-0.365	0.22858	N	0.998647	B	0.18013	0.025	B	0.21360	0.034	T	0.42241	-0.9463	10	0.02654	T	1	.	5.5935	0.17313	0.145:0.64:0.14:0.075	.	29	Q8NGJ5	O51L1_HUMAN	I	29	ENSP00000322156:L29I	ENSP00000322156:L29I	L	+	1	0	0	OR51L1	4976873	4976873	0.711000	0.27906	0.998000	0.56505	0.035000	0.12851	-0.201000	0.09464	0.903000	0.36546	-0.175000	0.13238	CTC		0.433	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1		-3.212275	4	4	112	112	NM_001004755		7	15.031318	15.031318	90	0.072165	1	0	0.00198382	1	0.00207007	7	90	0.072165	A	5020297	C	A	5020297	3	1	35	1	0	0	0	0	1	0	0	0	11102	797	28	5	87	5	OR51L1	11	5020297	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		5020297	129986219	9	628											
COL2A1	1280	broad.mit.edu	37	12	48372483	48372483	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr12:48372483G>T	ENST00000380518.3	-	42	2956	c.2792C>A	c.(2791-2793)gCt>gAt	p.A931D	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.A862D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	931	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTCTCCTCGAGCACCTTTGGG	0.637																																						ENST00000380518.3											0			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(2791-2793)gCt>gAt	collagen, type II, alpha 1						29	31	30					12																	48372483		2203	4299	6502	SO:0001583	missense	1280			axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48372483G>T	X16468	X16468	CCDS8759.1, CCDS41778.1	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219	ENSG00000139219	ENSG00000139219		"Collagens"	"Collagens"	2200	2200	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120140	120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	1677770	Standard	Standard	NM_033150	NM_033150		Approved	STL1	uc001rqu.3	uc001rqu.3	P02458	P02458	OTTHUMG00000149896	OTTHUMG00000149896	ENST00000380518.3:c.2792C>A	12.37:g.48372483G>T	ENSP00000369889:p.Ala931Asp		COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.A862D	p.A931D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			42	2956	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	931	Triple-helical region.	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2792C>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422086	0.43020	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94376	-3.41;-3.41	5.46	-0.683	0.11335	5.46	-0.683	0.11335	.	0.411674	0.22850	N	0.054869	D	0.82426	0.5034	N	0.05199	-0.095	0.30228	N	0.796188	B;B	0.25609	0.13;0.037	B;B	0.25884	0.064;0.029	T	0.71889	-0.4456	10	0.33141	T	0.24	.	11.1015	0.48177	0.4511:0.0:0.5489:0.0	.	862;931	P02458-1;P02458	.;CO2A1_HUMAN	D	931;862;862	ENSP00000369889:A931D;ENSP00000338213:A862D	ENSP00000338213:A862D	A	-	2	0	0	COL2A1	46658750	46658750	0.000000	0.05858	0.953000	0.39169	0.991000	0.79684	0.002000	0.13061	-0.448000	0.07128	0.655000	0.94253	GCT		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2		54.949551	-10	-10	41	41	NM_001844		18	54.955726	54.955726	17	0.514286	1	0	1.99824e-07	1	2.17989e-07	18	17	0.514286	T	48372483	G	T	48372483	3	4	35	1	0	0	0	0	1	0	0	0	3687	971	34	5	1723	5	COL2A1	12	48372483	Missense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		48372483	85479412	10	629											
XRCC3	7517	broad.mit.edu	37	14	104169547	104169547	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr14:104169547A>G	ENST00000553264.1	-	5	1320	c.524T>C	c.(523-525)tTt>tCt	p.F175S	XRCC3_ENST00000445556.1_Missense_Mutation_p.F175S|XRCC3_ENST00000555055.1_Missense_Mutation_p.F175S|XRCC3_ENST00000555832.1_5'UTR|XRCC3_ENST00000554913.1_Missense_Mutation_p.F175S|XRCC3_ENST00000352127.7_Missense_Mutation_p.F175S|XRCC3_ENST00000554974.1_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	175					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTGGCTGCCAAATCGGAGCTT	0.617								Direct reversal of damage;Homologous recombination																														ENST00000553264.1											0			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(523-525)tTt>tCt	X-ray repair complementing defective repair in Chinese hamster cells 3						56	44	48					14																	104169547		2197	4293	6490	SO:0001583	missense	7517			DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104169547A>G	AF035586	AF035586	CCDS9984.1	CCDS9984.1	14q32.3	2006-05-04			2006-05-04				ENSG00000126215		ENSG00000126215				12830	12830	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RAD51-like"	"RAD51-like"	600675	600675						7603995	7603995	Standard	Standard	NM_001100118	NM_001100118		Approved		uc001ynz.4	uc001ynz.4	O43542	O43542			ENST00000553264.1:c.524T>C	14.37:g.104169547A>G	ENSP00000451974:p.Phe175Ser		XRCC3_ENST00000555832.1_5'UTR|XRCC3_ENST00000554913.1_Missense_Mutation_p.F175S|XRCC3_ENST00000352127.7_Missense_Mutation_p.F175S|XRCC3_ENST00000445556.1_Missense_Mutation_p.F175S|XRCC3_ENST00000555055.1_Missense_Mutation_p.F175S|XRCC3_ENST00000554974.1_Intron	p.F175S			O43542	XRCC3_HUMAN		Epithelial(152;0.239)	5	1320	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	175		O43568|Q9BU18	Missense_Mutation	SNP	ENST00000553264.1	37	c.524T>C	CCDS9984.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029618	0.54790	.	.	ENSG00000126215	ENST00000554913;ENST00000352127;ENST00000553264;ENST00000555055;ENST00000445556	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	4.7	3.55	0.40652	4.7	3.55	0.40652	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	L	0.53617	1.68	0.58432	D	0.999999	P	0.46912	0.886	P	0.56474	0.799	T	0.46965	-0.9153	10	0.52906	T	0.07	-13.2926	10.0182	0.42027	0.9181:0.0:0.0819:0.0	.	175	O43542	XRCC3_HUMAN	S	175	ENSP00000451362:F175S;ENSP00000343392:F175S;ENSP00000451974:F175S;ENSP00000452598:F175S;ENSP00000412990:F175S	ENSP00000343392:F175S	F	-	2	0	0	XRCC3	103239300	103239300	1.000000	0.71417	0.003000	0.11579	0.006000	0.05464	6.989000	0.76219	0.637000	0.30526	-0.411000	0.06167	TTT		0.617	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1		22.825393	-9	-9	13	13	NM_005432		7	22.825393	22.825393	7	0.5	0	0	0	1	0	7	7	0.5	G	104169547	A	G	104169547	3	3	35	1	0	0	0	0	1	0	0	0	17451	14	1	4	532	4	XRCC3	14	104169547	Missense_Mutation	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08		104169547	3179993	11	630											
ZC3H7A	29066	broad.mit.edu	37	16	11846640	11846640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr16:11846640G>A	ENST00000396516.2	-	21	2808	c.2611C>T	c.(2611-2613)Cag>Tag	p.Q871*	ZC3H7A_ENST00000355758.4_Nonsense_Mutation_p.Q871*|ZC3H7A_ENST00000575984.1_Nonsense_Mutation_p.Q67*			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	871						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CCCTGCCACTGCTTCTCACTG	0.517																																						ENST00000396516.2											0			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(2611-2613)Cag>Tag	zinc finger CCCH-type containing 7A						137	108	118					16																	11846640		2197	4300	6497	SO:0001587	stop_gained	29066				nucleus	nucleic acid binding|zinc ion binding	g.chr16:11846640G>A	AF161540	AF161540	CCDS10550.1	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	30959	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7	"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	11042152	Standard	Standard	NM_014153	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	uc002dbl.3	Q8IWR0	Q8IWR0	OTTHUMG00000129825	OTTHUMG00000129825	ENST00000396516.2:c.2611C>T	16.37:g.11846640G>A	ENSP00000379773:p.Gln871*		ZC3H7A_ENST00000575984.1_Nonsense_Mutation_p.Q67*|ZC3H7A_ENST00000355758.4_Nonsense_Mutation_p.Q871*	p.Q871*			Q8IWR0	Z3H7A_HUMAN			21	2808	-			871		D3DUG5|Q9NPE9	Nonsense_Mutation	SNP	ENST00000396516.2	37	c.2611C>T	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	G	49	16.042092	0.99852	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	.	.	.	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8439	0.92196	0.0:0.0:1.0:0.0	.	.	.	.	X	871	.	ENSP00000347999:Q871X	Q	-	1	0	0	ZC3H7A	11754141	11754141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.688000	0.91661	0.591000	0.81541	CAG		0.517	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1		75.534157	-20	-20	99	99	NM_014153		26	76.184555	76.184555	40	0.393939	0	0	0	1	0	26	40	0.393939	A	11846640	G	A	11846640	4	1	35	1	0	0	0	0	0	1	0	0	17569	1328	46	2	312	2	ZC3H7A	16	11846640	Nonsense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		11846640	78508113	12	631											
AZI1	22994	broad.mit.edu	37	17	79166611	79166611	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr17:79166611G>A	ENST00000269392.4	-	19	2610	c.2363C>T	c.(2362-2364)gCg>gTg	p.A788V	AZI1_ENST00000374782.3_Intron|AZI1_ENST00000575907.1_Intron|AZI1_ENST00000450824.2_Missense_Mutation_p.A785V	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		788					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ctgctgcagcgcccactgctc	0.736																																						ENST00000269392.4											0			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(2362-2364)gCg>gTg	5-azacytidine induced 1						14	17	16					17																	79166611		2093	4201	6294	SO:0001583	missense	22994			cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79166611G>A																																																	ENST00000269392.4:c.2363C>T	17.37:g.79166611G>A	ENSP00000269392:p.Ala788Val		AZI1_ENST00000374782.3_Intron|AZI1_ENST00000450824.2_Missense_Mutation_p.A785V|AZI1_ENST00000575907.1_Intron	p.A788V	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		19	2610	-	all_neural(118;0.0804)|Melanoma(429;0.242)		788		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2363C>T		.	.	.	.	.	.	.	.	.	.	G	7.075	0.569045	0.13560	.	.	ENSG00000141577	ENST00000450824;ENST00000269392	T;T	0.15952	2.38;2.39	3.32	1.19	0.21007	3.32	1.19	0.21007	.	0.153292	0.43260	N	0.000586	T	0.13114	0.0318	L	0.48362	1.52	0.80722	D	1	B;B	0.29378	0.243;0.045	B;B	0.23419	0.046;0.012	T	0.08207	-1.0733	10	0.42905	T	0.14	-8.9622	8.3592	0.32348	0.2079:0.0:0.7921:0.0	.	788;785	Q9UPN4;Q9UPN4-2	AZI1_HUMAN;.	V	785;788	ENSP00000393583:A785V;ENSP00000269392:A788V	ENSP00000269392:A788V	A	-	2	0	0	AZI1	76781206	76781206	0.961000	0.32948	0.543000	0.28128	0.547000	0.35210	2.848000	0.48278	0.110000	0.17919	-0.444000	0.05651	GCG		0.736	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1		28.035555	11	11	44	44			10	28.076363	28.076363	12	0.454545	0	0	0	1	0	10	12	0.454545	A	79166611	G	A	79166611	3	1	35	1	0	0	0	0	1	0	0	0	1240	1087	38	1	920	1	AZI1	17	79166611	Missense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		79166611	2028599	13	632											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		62.501612	0	0	81	81	NM_002067		20	62.598132	62.598132	16	0.555556	0	0	0	1	0	20	16	0.555556	T	3118942	A	T	3118942	3	4	35	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08		3118942	56010041	14	633											
CRLF1	9244	broad.mit.edu	37	19	18704909	18704909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr19:18704909delC	ENST00000392386.3	-	8	1414	c.1221delG	c.(1219-1221)gggfs	p.G407fs	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	407					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGGCAGGATCCCCTCGTCCT	0.687																																						ENST00000392386.3											0			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(1219-1221)gggfs	cytokine receptor-like factor 1						12	11	11					19																	18704909		2178	4277	6455	SO:0001589	frameshift_variant	9244			negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18704909delC	AF059293	AF059293	CCDS32962.1	CCDS32962.1	19p12	2013-02-11			2013-02-11				ENSG00000006016		ENSG00000006016		"Fibronectin type III domain containing"	"Fibronectin type III domain containing"	2364	2364	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	"cold-induced sweating syndrome"	604237	604237						9686600	9686600	Standard	Standard	NM_004750	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	uc010ebt.2	O75462	O75462			ENST00000392386.3:c.1221delG	19.37:g.18704909delC	ENSP00000376188:p.Gly407fs		CRLF1_ENST00000594325.1_Intron	p.G407fs	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			8	1414	-			407		Q9UHH5	Frame_Shift_Del	DEL	ENST00000392386.3	37	c.1221delG	CCDS32962.1																																																																																									0.687	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1	.	.	6	6	7	7			2			4	0.33						2	4	0.33	-	18704909	C	-	18704909	7	5	35	1	0	1	0	1	0	0	0	0	3886	842	30	0	55	0	CRLF1	19	18704909	Frame_Shift_Del	DEL	C	TCGA-V4-A9F7-01A-11D-A39W-08	15585967	18704909	40424074	15	634											
ZNF628	89887	broad.mit.edu	37	19	55993184	55993184	+	Silent	SNP	C	C	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr19:55993184C>T	ENST00000598519.1	+	3	1177	c.624C>T	c.(622-624)ctC>ctT	p.L208L	ZNF628_ENST00000391718.2_Silent_p.L204L			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	208					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(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCTGCCCGCTCTGCCCCAAGA	0.736																																						ENST00000391718.2											0			endometrium(4)|kidney(1)|lung(2)	7						c.(610-612)ctC>ctT	zinc finger protein 628						14	14	14					19																	55993184		2197	4272	6469	SO:0001819	synonymous_variant	89887				nucleus	DNA binding|zinc ion binding	g.chr19:55993184C>T	AF367249	AF367249	CCDS33116.3	CCDS33116.3	19q13.43	2013-01-08			2013-01-08			ENSG00000197483	ENSG00000197483	ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	28054	28054	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671	610671								Standard	Standard	NM_033113	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	uc002qld.3	Q5EBL2	Q5EBL2	OTTHUMG00000150396	OTTHUMG00000150396	ENST00000598519.1:c.624C>T	19.37:g.55993184C>T			ZNF628_ENST00000598519.1_Silent_p.L208L	p.L204L	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	1177	+	Breast(117;0.155)		204		Q86X34	Silent	SNP	ENST00000598519.1	37	c.612C>T	CCDS33116.3																																																																																									0.736	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2		15.574655	0	0	10	10	XM_058964		5	15.574655	15.574655	5	0.5	0	0	0	1	0	5	5	0.5	T	55993184	C	T	55993184	2	4	35	1	0	0	0	0	0	0	0	1	18049	900	32	3		3	ZNF628	19	55993184	Silent	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08	37288275	55993184	3135799	16	635											
BRD1	23774	broad.mit.edu	37	22	50216676	50216676	+	Silent	SNP	T	T	C			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chr22:50216676T>C	ENST00000216267.8	-	1	1776	c.1290A>G	c.(1288-1290)gcA>gcG	p.A430A	BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000542442.1_Silent_p.A69A|BRD1_ENST00000457780.2_Silent_p.A430A|BRD1_ENST00000404034.1_Silent_p.A430A|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000404760.1_Silent_p.A430A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	430					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TAGCCTTTTTTGCCTTCTTCC	0.517																																						ENST00000216267.8											0			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1288-1290)gcA>gcG	bromodomain containing 1						152	155	154					22																	50216676		2203	4300	6503	SO:0001819	synonymous_variant	23774			histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216676T>C	AF005067	AF005067	CCDS14080.1	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425	ENSG00000100425	ENSG00000100425				1102	1102	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"BR140-like"	"BR140-like"	604589	604589	"bromodomain-containing 1"		"bromodomain-containing 1"			10591208, 10602503	10591208, 10602503	Standard	Standard	NM_014577	NM_014577		Approved	BRL, BRPF2	uc003biv.3	uc003biv.3	O95696	O95696	OTTHUMG00000150288	OTTHUMG00000150288	ENST00000216267.8:c.1290A>G	22.37:g.50216676T>C			BRD1_ENST00000542442.1_Silent_p.A69A|BRD1_ENST00000457780.2_Silent_p.A430A|BRD1_ENST00000404760.1_Silent_p.A430A|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000404034.1_Silent_p.A430A	p.A430A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1776	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	430		A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1290A>G	CCDS14080.1																																																																																									0.517	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1		223.639596	-10	-10	193	193	NM_014577		67	224.051575	224.051575	52	0.563025	0	0	0	1	0	67	52	0.563025	C	50216676	T	C	50216676	2	2	35	1	0	0	0	0	0	0	0	1	1501	1799	63	4		4	BRD1	22	50216676	Silent	SNP	T	TCGA-V4-A9F7-01A-11D-A39W-08		50216676	1087890	17	636											
NHS	4810	broad.mit.edu	37	X	17744069	17744069	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chrX:17744069G>A	ENST00000380060.3	+	6	2118	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I	NHS_ENST00000398097.3_Missense_Mutation_p.V438I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	615					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CACGGCTGGCGTCCTCCTTAG	0.592																																						ENST00000380060.3											0			breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1780-1782)Gtc>Atc	Nance-Horan syndrome (congenital cataracts and dental anomalies)						76	62	67					X																	17744069		2203	4300	6503	SO:0001583	missense	4810				nucleus		g.chrX:17744069G>A			CCDS14181.1, CCDS48087.1	CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			2014-06-18			ENSG00000188158	ENSG00000188158	ENSG00000188158	ENSG00000188158				7820	7820	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300457	300457								Standard	Standard	NM_001136024	NM_001136024		Approved		uc004cxx.3	uc004cxx.3	Q6T4R5	Q6T4R5	OTTHUMG00000022799	OTTHUMG00000022799	ENST00000380060.3:c.1780G>A	X.37:g.17744069G>A	ENSP00000369400:p.Val594Ile		NHS_ENST00000398097.3_Missense_Mutation_p.V438I	p.V594I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	2118	+	Hepatocellular(33;0.183)		594		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1780G>A	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900314	0.52227	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.48201	0.82;0.84	5.86	5.0	0.66597	5.86	5.0	0.66597	.	0.170372	0.51477	D	0.000094	T	0.60689	0.2288	M	0.66939	2.045	0.51482	D	0.999925	P;B;B;D	0.71674	0.48;0.178;0.178;0.998	B;B;B;P	0.58130	0.071;0.042;0.042;0.833	T	0.59867	-0.7373	10	0.33940	T	0.23	-12.6421	14.0633	0.64812	0.0738:0.0:0.9262:0.0	.	615;436;438;594	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	I	594;438;436	ENSP00000369400:V594I;ENSP00000381170:V438I	ENSP00000369397:V436I	V	+	1	0	0	NHS	17653990	17653990	1.000000	0.71417	0.841000	0.33234	0.764000	0.43329	9.476000	0.97823	1.235000	0.43724	0.600000	0.82982	GTC		0.592	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1		136.520751	10	10	108	108	NM_198270		43	136.60554	136.60554	49	0.467391	0	0	0	1	0	43	49	0.467391	A	17744069	G	A	17744069	3	1	35	1	0	0	0	0	1	0	0	0	10411	1145	40	1	1907	1	NHS	23	17744069	Missense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		17744069	137526491	18	637											
EIF1AX	1964	broad.mit.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	snoU2_19_ENST00000364722.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(43-45)gGt>gAt	eukaryotic translation initiation factor 1A, X-linked						164	152	156					X																	20156713		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156713C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.44G>A	X.37:g.20156713C>T	ENSP00000368927:p.Gly15Asp		EIF1AX_ENST00000379593.1_Intron	p.G15D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	247	-			15		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.44G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551056	0.65311	.	.	ENSG00000173674	ENST00000379607	T	0.45276	0.9	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.75953	0.3920	H	0.96175	3.78	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.85102	0.0958	9	0.87932	D	0	-6.0481	17.661	0.88193	0.0:1.0:0.0:0.0	.	15	P47813	IF1AX_HUMAN	D	15	ENSP00000368927:G15D	ENSP00000368927:G15D	G	-	2	0	0	EIF1AX	20066634	20066634	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		39.163719	23	23	211	211			16	43.707518	43.707518	53	0.231884	0	0	0	1	0	16	53	0.231884	T	20156713	C	T	20156713	3	4	35	1	0	0	0	0	1	0	0	0	4992	507	18	3	414	3	EIF1AX	23	20156713	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08	2412644	20156713	135113847	19	638											
SLC30A1	7779	broad.mit.edu	37	1	211749275	211749275	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr1:211749275T>C	ENST00000367001.4	-	2	1108	c.979A>G	c.(979-981)Ata>Gta	p.I327V		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	327					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TAAAGAAGTATACAAACCATT	0.318																																						ENST00000367001.4											0			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11						c.(979-981)Ata>Gta	solute carrier family 30 (zinc transporter), member 1						105	111	109					1																	211749275		2203	4300	6503	SO:0001583	missense	7779			cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211749275T>C	AF323590	AF323590	CCDS1499.1	CCDS1499.1	1q32.3	2013-05-22			2013-05-22			ENSG00000170385	ENSG00000170385	ENSG00000170385	ENSG00000170385		"Solute carriers"	"Solute carriers"	11012	11012	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609521	609521		ZNT1		ZNT1				Standard	Standard	NM_021194	NM_021194		Approved	ZRC1	uc001hio.1	uc001hio.1	Q9Y6M5	Q9Y6M5	OTTHUMG00000036995	OTTHUMG00000036995	ENST00000367001.4:c.979A>G	1.37:g.211749275T>C	ENSP00000355968:p.Ile327Val			p.I327V	NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	2	1108	-			327		Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	c.979A>G	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.878797	0.72294	.	.	ENSG00000170385	ENST00000367001	T	0.66995	-0.24	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.047895	0.85682	D	0.000000	T	0.75824	0.3902	L	0.45352	1.415	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.75872	-0.3164	10	0.44086	T	0.13	-10.9073	15.4963	0.75653	0.0:0.0:0.0:1.0	.	327	Q9Y6M5	ZNT1_HUMAN	V	327	ENSP00000355968:I327V	ENSP00000355968:I327V	I	-	1	0	0	SLC30A1	209815898	209815898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.748000	0.85085	2.061000	0.61500	0.460000	0.39030	ATA		0.318	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2		123.504658	1	1	110	110			40	123.805805	123.805805	51	0.43956	0	0	0	1	0	40	51	0.43956	C	211749275	T	C	211749275	3	2	36	1	0	0	0	0	1	0	0	0	14553	1406	49	4	548	4	SLC30A1	1	211749275	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		211749275	37501346	1	639											
DYNC1I2	1781	broad.mit.edu	37	2	172600667	172600667	+	Silent	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr2:172600667T>C	ENST00000397119.3	+	16	1812	c.1645T>C	c.(1645-1647)Ttg>Ctg	p.L549L	DYNC1I2_ENST00000409773.1_Silent_p.L549L|DYNC1I2_ENST00000409197.1_Silent_p.L523L|DYNC1I2_ENST00000508530.1_Silent_p.L523L|DYNC1I2_ENST00000358002.6_Silent_p.L541L|DYNC1I2_ENST00000263811.4_Silent_p.L543L|DYNC1I2_ENST00000410079.3_Silent_p.L541L|DYNC1I2_ENST00000340296.4_Silent_p.L523L|DYNC1I2_ENST00000409453.1_Silent_p.L549L|DYNC1I2_ENST00000409317.1_Silent_p.L543L|DYNC1I2_ENST00000534253.2_Silent_p.L549L	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	549					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CATGGGGAGATTGGATTTGTG	0.368																																						ENST00000534253.2											0			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(1645-1647)Ttg>Ctg	dynein, cytoplasmic 1, intermediate chain 2						72	66	68					2																	172600667		1832	4083	5915	SO:0001819	synonymous_variant	1781			G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172600667T>C	AK055491	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	"Cytoplasmic dyneins", "WD repeat domain containing"	2964	2964	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603331	603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	10049579, 16260502	Standard	Standard	NM_001378	NM_001378		Approved		uc002uha.2	uc002uha.2	Q13409	Q13409	OTTHUMG00000154061	OTTHUMG00000154061	ENST00000397119.3:c.1645T>C	2.37:g.172600667T>C			DYNC1I2_ENST00000340296.4_Silent_p.L523L|DYNC1I2_ENST00000508530.1_Silent_p.L523L|DYNC1I2_ENST00000409773.1_Silent_p.L549L|DYNC1I2_ENST00000409317.1_Silent_p.L543L|DYNC1I2_ENST00000409197.1_Silent_p.L523L|DYNC1I2_ENST00000358002.6_Silent_p.L541L|DYNC1I2_ENST00000410079.3_Silent_p.L541L|DYNC1I2_ENST00000397119.3_Silent_p.L549L|DYNC1I2_ENST00000263811.4_Silent_p.L543L|DYNC1I2_ENST00000409453.1_Silent_p.L549L	p.L549L			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		16	1813	+			549		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Silent	SNP	ENST00000397119.3	37	c.1645T>C	CCDS46450.1																																																																																									0.368	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2		8.486561	-3	-3	32	32	NM_001378		4	11.236034	11.236034	21	0.16	0	0	0	1	0	4	21	0.16	C	172600667	T	C	172600667	2	2	36	1	0	0	0	0	0	0	0	1	4843	1490	52	4		4	DYNC1I2	2	172600667	Silent	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		172600667	70598706	2	640											
SPEG	10290	broad.mit.edu	37	2	220344823	220344823	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr2:220344823T>C	ENST00000312358.7	+	25	5435	c.5303T>C	c.(5302-5304)aTt>aCt	p.I1768T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1768	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCACCCGAGATTGTCAATCAG	0.607																																						ENST00000312358.7											0			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5302-5304)aTt>aCt	SPEG complex locus						81	86	84					2																	220344823		2097	4234	6331	SO:0001583	missense	10290			muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220344823T>C	BC006346	BC006346	CCDS42824.1, CCDS54432.1	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	"Immunoglobulin superfamily / I-set domain containing"	16901	16901	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615950	615950	"aortic preferentially expressed gene 1"	APEG1	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	8663449, 10973969	Standard	Standard	NM_005876	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	uc010fwg.3	Q15772	Q15772	OTTHUMG00000058925	OTTHUMG00000058925	ENST00000312358.7:c.5303T>C	2.37:g.220344823T>C	ENSP00000311684:p.Ile1768Thr		SPEG_ENST00000485813.1_3'UTR	p.I1768T	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	25	5435	+		Renal(207;0.0183)	1768	Protein kinase 1.	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.5303T>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	t	15.03	2.711137	0.48517	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.55	3.36	0.38483	4.55	3.36	0.38483	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.169966	0.27922	N	0.017320	T	0.79058	0.4382	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.79876	-0.1618	10	0.87932	D	0	.	10.6646	0.45723	0.1436:0.0:0.0:0.8564	.	1768	Q15772	SPEG_HUMAN	T	1768	ENSP00000311684:I1768T	ENSP00000265327:I1768T	I	+	2	0	0	SPEG	220053067	220053067	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.740000	0.84986	0.851000	0.35264	0.492000	0.49549	ATT		0.607	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		65.664276	-8	-8	50	50	NM_005876		21	66.431277	66.431277	35	0.375	0	0	0	1	0	21	35	0.375	C	220344823	T	C	220344823	3	2	36	1	0	0	0	0	1	0	0	0	15035	1493	52	4	5413	4	SPEG	2	220344823	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08	47744156	220344823	22854550	3	641											
BAP1	51533	broad.mit.edu	37	3	52442542	52442542	+	5'Flank	SNP	T	T	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:52442542T>C	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Missense_Mutation_p.D68G|PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.D68G	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CACGGACGTATCATCCACCAA	0.502																																						ENST00000460680.1											0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(202-204)gAt>gGt	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						66	55	59					3																	52442542		2202	4300	6502	SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52442542T>C	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"Zinc fingers, PHD-type"		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52442542T>C	Exception_encountered		BAP1_ENST00000296288.5_Missense_Mutation_p.D68G	p.D68G	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	4	674	-			68		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.203A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852084	0.71719	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.53857	0.6;0.6	5.43	5.43	0.79202	5.43	5.43	0.79202	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.332135	0.36066	N	0.002808	T	0.30039	0.0752	N	0.02142	-0.665	0.58432	D	0.999999	B	0.18461	0.028	B	0.20384	0.029	T	0.18366	-1.0339	10	0.54805	T	0.06	-4.0493	15.4677	0.75416	0.0:0.0:0.0:1.0	.	68	Q92560	BAP1_HUMAN	G	68	ENSP00000417132:D68G;ENSP00000296288:D68G	ENSP00000296288:D68G	D	-	2	0	0	BAP1	52417582	52417582	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	8.005000	0.88553	2.061000	0.61500	0.533000	0.62120	GAT		0.502	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		35.816669	5	5	17	17	NM_016483		10	37.315062	37.315062	1	0.909091	0	0	0	1	0	10	1	0.909091	C	52442542	T	C	52442542	1	2	36	0	1	0	0	0	0	0	0	0	1311	1435	50	4		4	BAP1	3	52442542	5'Flank	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		52442542	145579888	4	642											
B4GALT4	8702	broad.mit.edu	37	3	118945808	118945808	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:118945808G>A	ENST00000483209.1	-	4	975	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Missense_Mutation_p.R112W|B4GALT4_ENST00000467604.1_Missense_Mutation_p.R112W|B4GALT4_ENST00000393765.2_Missense_Mutation_p.R112W			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	112					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGGCGATACCGGCCTCTGGAC	0.502																																						ENST00000467604.1											0			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(334-336)Cgg>Tgg	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4						120	111	114					3																	118945808		2203	4300	6503	SO:0001583	missense	8702			membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118945808G>A	AF022367	AF022367	CCDS2986.1	CCDS2986.1	3q13.3	2013-02-19			2013-02-19			ENSG00000121578	ENSG00000121578	ENSG00000121578	ENSG00000121578		"Beta 4-glycosyltransferases"	"Beta 4-glycosyltransferases"	927	927	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604015	604015						9597550	9597550	Standard	Standard	NM_003778	NM_003778		Approved	beta4Gal-T4	uc003eci.3	uc003eci.3	O60513	O60513	OTTHUMG00000159358	OTTHUMG00000159358	ENST00000483209.1:c.334C>T	3.37:g.118945808G>A	ENSP00000420161:p.Arg112Trp		B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Missense_Mutation_p.R112W|B4GALT4_ENST00000483209.1_Missense_Mutation_p.R112W|B4GALT4_ENST00000393765.2_Missense_Mutation_p.R112W|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR	p.R112W			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	4	725	-			112		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.334C>T	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040308	0.55003	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765;ENST00000475803;ENST00000479150	T;T;T;T;T;T	0.54071	1.57;1.57;1.57;1.57;1.57;0.59	6.02	6.02	0.97574	6.02	6.02	0.97574	.	0.389342	0.29009	N	0.013436	T	0.67230	0.2871	M	0.76170	2.325	0.43145	D	0.994904	D	0.89917	1.0	P	0.56788	0.806	T	0.68773	-0.5320	10	0.52906	T	0.07	-8.285	14.3748	0.66867	0.0:0.0:0.8524:0.1476	.	112	O60513	B4GT4_HUMAN	W	112	ENSP00000420161:R112W;ENSP00000417226:R112W;ENSP00000352144:R112W;ENSP00000377360:R112W;ENSP00000417188:R112W;ENSP00000417958:R112W	ENSP00000352144:R112W	R	-	1	2	2	B4GALT4	120428498	120428498	1.000000	0.71417	0.980000	0.43619	0.028000	0.11728	4.499000	0.60380	2.865000	0.98341	0.655000	0.94253	CGG		0.502	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2		66.710541	-29	-29	50	50	NM_003778		20	67.449796	67.449796	10	0.666667	0	0	0	1	0	20	10	0.666667	A	118945808	G	A	118945808	3	1	36	1	0	0	0	0	1	0	0	0	1273	1115	39	1	720	1	B4GALT4	3	118945808	Missense_Mutation	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08	66503266	118945808	79076622	5	643											
PODXL2	50512	broad.mit.edu	37	3	127391153	127391153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:127391153delG	ENST00000342480.6	+	8	1687	c.1648delG	c.(1648-1650)gacfs	p.D550fs	ABTB1_ENST00000468137.1_5'Flank|ABTB1_ENST00000232744.8_5'Flank|ABTB1_ENST00000453791.2_5'Flank|ABTB1_ENST00000393363.3_5'Flank	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	550					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CGGCTGCCACGACAACCCCAC	0.726																																						ENST00000342480.6											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1648-1650)gacfs	podocalyxin-like 2						5	7	6					3																	127391153		1919	3802	5721	SO:0001589	frameshift_variant	50512			leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127391153delG	AF219137	AF219137	CCDS3044.1	CCDS3044.1	3q21.3	2005-02-18			2005-02-18			ENSG00000114631	ENSG00000114631	ENSG00000114631	ENSG00000114631				17936	17936	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"endoglycan"	"endoglycan"								10722749	10722749	Standard	Standard	NM_015720	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	uc003ejq.3	Q9NZ53	Q9NZ53	OTTHUMG00000159642	OTTHUMG00000159642	ENST00000342480.6:c.1648delG	3.37:g.127391153delG	ENSP00000345359:p.Asp550fs			p.D550fs	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN			8	1687	+			550		Q6UVY4|Q8WUV6	Frame_Shift_Del	DEL	ENST00000342480.6	37	c.1648delG	CCDS3044.1																																																																																									0.726	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	.	.	3	3	6	6	NM_015720		2			4	0.33						2	4	0.33	-	127391153	G	-	127391153	7	5	36	1	0	1	0	1	0	0	0	0	12181	1058	37	0	1678	0	PODXL2	3	127391153	Frame_Shift_Del	DEL	G	TCGA-V4-A9F8-01A-11D-A39W-08	8445345	127391153	70631277	6	644											
DZIP1L	199221	ucsc.edu	37	3	137822328	137822328	+	Silent	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr3:137822328G>A	ENST00000327532.2	-	2	848	c.486C>T	c.(484-486)acC>acT	p.T162T	DZIP1L_ENST00000469243.1_Silent_p.T162T	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	162					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGTAGCTGTGGGTGCCTGTCT	0.647																																																	0																	49	47	48					3																	137822328		2203	4300	6503	SO:0001819	synonymous_variant	199221							AK057406	AK057406	CCDS3096.1, CCDS54645.1	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163	ENSG00000158163	ENSG00000158163				26551	26551	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"DAZ interacting protein 1-like"		"DAZ interacting protein 1-like"			12477932	12477932	Standard	Standard	NM_173543	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	uc003erq.3	Q8IYY4	Q8IYY4	OTTHUMG00000159819	OTTHUMG00000159819	ENST00000327532.2:c.486C>T	3.37:g.137822328G>A																		C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37		CCDS3096.1																																																																																									0.647	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1			-4	-4	67	67	NM_173543		4			22							4	22		A	137822328	G	A	137822328	2	1	36	1	0	0	0	0	0	0	0	1	4864	1219	43	3		3	DZIP1L	3	137822328	Silent	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08	10431175	137822328	60200102	7	645											
N4BP2	55728	broad.mit.edu	37	4	40146262	40146262	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr4:40146262A>C	ENST00000261435.6	+	16	5401	c.4985A>C	c.(4984-4986)cAt>cCt	p.H1662P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1662					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGTACTCTTCATGAGCAGAAG	0.433																																						ENST00000261435.6											0			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4984-4986)cAt>cCt	NEDD4 binding protein 2						121	114	117					4																	40146262		2203	4300	6503	SO:0001583	missense	55728				cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40146262A>C	AB037834	AB037834	CCDS3457.1	CCDS3457.1	4p14	2008-01-18			2008-01-18			ENSG00000078177	ENSG00000078177	ENSG00000078177	ENSG00000078177				29851	29851	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"BCL-3 binding protein"	"BCL-3 binding protein"								10718198, 11717310	10718198, 11717310	Standard	Standard	NM_018177	NM_018177		Approved	B3BP	uc003guy.4	uc003guy.4	Q86UW6	Q86UW6	OTTHUMG00000128599	OTTHUMG00000128599	ENST00000261435.6:c.4985A>C	4.37:g.40146262A>C	ENSP00000261435:p.His1662Pro			p.H1662P	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			16	5401	+			1662		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4985A>C	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893299	0.72524	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.25579	1.79	5.15	5.15	0.70609	5.15	5.15	0.70609	Domain of unknown function DUF1771 (1);	0.123240	0.53938	D	0.000057	T	0.54775	0.1879	M	0.82323	2.585	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.62435	-0.6855	10	0.87932	D	0	-8.5331	14.9703	0.71229	1.0:0.0:0.0:0.0	.	1645;1662	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	P	1662;1582	ENSP00000261435:H1662P	ENSP00000261435:H1662P	H	+	2	0	0	N4BP2	39822657	39822657	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.862000	0.92283	1.925000	0.55765	0.374000	0.22700	CAT		0.433	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		187.676904	21	21	145	145	NM_018177		57	187.726607	187.726607	52	0.522936	0	0	0	1	0	57	52	0.522936	C	40146262	A	C	40146262	3	2	36	1	0	0	0	0	1	0	0	0	10110	217	8	5	5039	5	N4BP2	4	40146262	Missense_Mutation	SNP	A	TCGA-V4-A9F8-01A-11D-A39W-08		40146262	151008014	8	646											
ADAMTS12	81792	broad.mit.edu	37	5	33576198	33576198	+	Silent	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr5:33576198G>A	ENST00000504830.1	-	19	4268	c.3933C>T	c.(3931-3933)ggC>ggT	p.G1311G	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Silent_p.G1226G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1311	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGAGCCGTGGCCGTTTGTGA	0.473										HNSCC(64;0.19)																												ENST00000504830.1											0			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3931-3933)ggC>ggT	ADAM metallopeptidase with thrombospondin type 1 motif, 12						113	113	113					5																	33576198		2203	4300	6503	SO:0001819	synonymous_variant	81792			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576198G>A	AJ250725	AJ250725	CCDS34140.1	CCDS34140.1	5q35	2008-07-18	2005-08-19		2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388	ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	14605	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606184	606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"		"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	11279086	Standard	Standard	NM_030955	NM_030955		Approved		uc003jia.1	uc003jia.1	P58397	P58397	OTTHUMG00000162088	OTTHUMG00000162088	ENST00000504830.1:c.3933C>T	5.37:g.33576198G>A			ADAMTS12_ENST00000352040.3_Silent_p.G1226G	p.G1311G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	4268	-			1311	Spacer 2.	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3933C>T	CCDS34140.1																																																																																									0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		11.982244	12	12	119	119	NM_030955		13	29.004555	29.004555	102	0.113043	0	0	0	1	0	13	102	0.113043	A	33576198	G	A	33576198	2	1	36	1	0	0	0	0	0	0	0	1	257	1190	42	2		2	ADAMTS12	5	33576198	Silent	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08		33576198	147339062	9	647											
IQGAP2	10788	broad.mit.edu	37	5	75969313	75969313	+	Silent	SNP	A	A	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr5:75969313A>G	ENST00000274364.6	+	25	3405	c.3108A>G	c.(3106-3108)acA>acG	p.T1036T	IQGAP2_ENST00000396234.3_Silent_p.T532T|IQGAP2_ENST00000379730.3_Silent_p.T538T|IQGAP2_ENST00000502745.1_Silent_p.T532T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1036	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGCTCTAACATACCCAGAAG	0.413																																						ENST00000274364.6											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3106-3108)acA>acG	IQ motif containing GTPase activating protein 2						104	101	102					5																	75969313		2203	4300	6503	SO:0001819	synonymous_variant	10788			small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75969313A>G	U51903	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			2008-07-18			ENSG00000145703	ENSG00000145703	ENSG00000145703	ENSG00000145703				6111	6111	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605401	605401						8756646	8756646	Standard	Standard	XM_005248409	XM_005248409		Approved		uc003kek.3	uc003kek.3	Q13576	Q13576	OTTHUMG00000162432	OTTHUMG00000162432	ENST00000274364.6:c.3108A>G	5.37:g.75969313A>G			IQGAP2_ENST00000379730.3_Silent_p.T538T|IQGAP2_ENST00000396234.3_Silent_p.T532T|IQGAP2_ENST00000502745.1_Silent_p.T532T	p.T1036T	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	25	3405	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1036	Ras-GAP.	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.3108A>G	CCDS34188.1																																																																																									0.413	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1		8.914557	4	4	83	83	NM_006633		9	21.028226	21.028226	72	0.111111	0	0	0	1	0	9	72	0.111111	G	75969313	A	G	75969313	2	3	36	1	0	0	0	0	0	0	0	1	7815	204	8	4		4	IQGAP2	5	75969313	Silent	SNP	A	TCGA-V4-A9F8-01A-11D-A39W-08	42393115	75969313	104945947	10	648											
C6orf150	115004	broad.mit.edu	37	6	74134996	74134996	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr6:74134996A>G	ENST00000370315.3	-	5	1617	c.1523T>C	c.(1522-1524)aTt>aCt	p.I508T	MB21D1_ENST00000370318.1_Intron	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	508					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTCATATTCAATTTGCTTTGT	0.299																																						ENST00000370315.3											0			central_nervous_system(1)|large_intestine(4)|lung(1)	6						c.(1522-1524)aTt>aCt	Mab-21 domain containing 1						36	36	36					6																	74134996		2203	4299	6502	SO:0001583	missense	115004						g.chr6:74134996A>G	BC012928	BC012928	CCDS4978.1	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430	ENSG00000164430	ENSG00000164430				21367	21367	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613973	613973	"chromosome 6 open reading frame 150"	C6orf150	"chromosome 6 open reading frame 150"	C6orf150				Standard	Standard	NM_138441	NM_138441		Approved		uc003pgx.1	uc003pgx.1	Q8N884	Q8N884	OTTHUMG00000015034	OTTHUMG00000015034	ENST00000370315.3:c.1523T>C	6.37:g.74134996A>G	ENSP00000359339:p.Ile508Thr		MB21D1_ENST00000370318.1_Intron	p.I508T	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN			5	1617	-			508		L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	ENST00000370315.3	37	c.1523T>C	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.438861	0.63067	.	.	ENSG00000164430	ENST00000370315;ENST00000296913	T	0.09163	3.01	5.8	5.8	0.92144	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.24661	0.0598	M	0.79123	2.44	0.46678	D	0.999154	D	0.89917	1.0	D	0.91635	0.999	T	0.01405	-1.1363	10	0.41790	T	0.15	-19.2525	14.7073	0.69200	1.0:0.0:0.0:0.0	.	508	Q8N884	M21D1_HUMAN	T	508;491	ENSP00000359339:I508T	ENSP00000296913:I491T	I	-	2	0	0	MB21D1	74191717	74191717	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	5.419000	0.66435	2.219000	0.72066	0.528000	0.53228	ATT		0.299	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5		75.063826	-52	-52	54	54	NM_138441		24	75.444926	75.444926	34	0.413793	0	0	0	1	0	24	34	0.413793	G	74134996	A	G	74134996	3	3	36	1	0	0	0	0	1	0	0	0	2337	101	4	4	49	4	C6orf150	6	74134996	Missense_Mutation	SNP	A	TCGA-V4-A9F8-01A-11D-A39W-08		74134996	96980071	11	649											
ANKRD6	22881	broad.mit.edu	37	6	90327729	90327737	+	In_Frame_Del	DEL	TCTCCTTAC	TCTCCTTAC	-			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr6:90327729_90327737delTCTCCTTAC	ENST00000522441.1	+	9	1412_1420	c.771_779delTCTCCTTAC	c.(769-780)cttctccttact>ctt	p.LLT258del	ANKRD6_ENST00000369408.5_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000447838.2_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000485637.1_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000339746.4_In_Frame_Del_p.LLT258del	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	258					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AAGTTGCTCTTCTCCTTACTAAAGCTCCC	0.536																																						ENST00000369408.5											0			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(769-780)cttctccttact>ctt	ankyrin repeat domain 6																																			SO:0001651	inframe_deletion	22881					protein binding	g.chr6:90327729_90327737delTCTCCTTAC	AB023174	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			2013-03-20			ENSG00000135299	ENSG00000135299	ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	17280	17280	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610583	610583								Standard	Standard	NM_001242809	NM_001242809		Approved	KIAA0957	uc003pni.4	uc003pni.4	Q9Y2G4	Q9Y2G4	OTTHUMG00000015202	OTTHUMG00000015202	ENST00000522441.1:c.771_779delTCTCCTTAC	6.37:g.90327729_90327737delTCTCCTTAC	ENSP00000430985:p.Leu258_Thr260del		ANKRD6_ENST00000485637.1_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000339746.4_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000447838.2_In_Frame_Del_p.LLT258del|ANKRD6_ENST00000522441.1_In_Frame_Del_p.LLT258del	p.LLT258del	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	9	1120_1128	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	258		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	In_Frame_Del	DEL	ENST00000522441.1	37	c.771_779delTCTCCTTAC	CCDS56441.1																																																																																									0.536	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1	.	.	-18	-18	106	106			32			68	0.32						32	68	0.32	-	90327737	TCTCCTTAC	-	90327729	7	5	36	1	0	1	0	1	0	0	0	0	685	1770	62	0	801	0	ANKRD6	6	90327729	In_Frame_Del	DEL	TCTCCTTAC	TCGA-V4-A9F8-01A-11D-A39W-08	16192733	90327729	80787338	12	650											
ING3	54556	broad.mit.edu	37	7	120609120	120609121	+	Frame_Shift_Ins	INS	-	-	TAAT			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr7:120609120_120609121insTAAT	ENST00000315870.5	+	9	918_919	c.770_771insTAAT	c.(769-774)aataatfs	p.-258fs	ING3_ENST00000431467.1_Frame_Shift_Ins_p.-243fs	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					GCATTTAAGAATAATGACTTTC	0.342																																						ENST00000315870.5											0			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12						c.(769-774)aataatfs	inhibitor of growth family, member 3																																			SO:0001589	frameshift_variant	54556			histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120609120_120609121insTAAT	AF074968	AF074968	CCDS5778.1, CCDS35497.1	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			2013-01-28			ENSG00000071243	ENSG00000071243	ENSG00000071243	ENSG00000071243		"Zinc fingers, PHD-type"	"Zinc fingers, PHD-type"	14587	14587	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607493	607493						12080476	12080476	Standard	Standard	NM_019071	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	uc003vjn.3	Q9NXR8	Q9NXR8	OTTHUMG00000141270	OTTHUMG00000141270	ENST00000315870.5:c.771_774dupTAAT	7.37:g.120609121_120609124dupTAAT	ENSP00000320566:p.Asn258fs		ING3_ENST00000431467.1_Frame_Shift_Ins_p.-243fs	p.-258fs	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN			9	918_919	+	all_neural(327;0.117)				A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Frame_Shift_Ins	INS	ENST00000315870.5	37	c.770_771insTAAT	CCDS5778.1																																																																																									0.342	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	.	.	1	1	73	73	NM_019071		16			44	0.26						16	44	0.26	TAAT	120609121	-	TAAT	120609120	7	5	36	1	0	1	1	0	0	0	0	0	7737	101	4	0	820	0	ING3	7	120609120	Frame_Shift_Ins	INS	-	TCGA-V4-A9F8-01A-11D-A39W-08		120609120	38529543	13	651											
XKR4	114786	broad.mit.edu	37	8	56015469	56015469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr8:56015469C>T	ENST00000327381.6	+	1	521	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	141						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCTGCGCGGCCAGCGCTGGTG	0.637																																						ENST00000327381.6											0			NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(421-423)Cag>Tag	XK, Kell blood group complex subunit-related family, member 4						59	46	50					8																	56015469		2203	4299	6502	SO:0001587	stop_gained	114786				integral to membrane		g.chr8:56015469C>T	AY534241	AY534241	CCDS34893.1	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579	ENSG00000206579	ENSG00000206579				29394	29394	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"X Kell blood group precursor-related family, member 4"		"X Kell blood group precursor-related family, member 4"					Standard	Standard	NM_052898	NM_052898		Approved	KIAA1889	uc003xsf.3	uc003xsf.3	Q5GH76	Q5GH76	OTTHUMG00000164288	OTTHUMG00000164288	ENST00000327381.6:c.421C>T	8.37:g.56015469C>T	ENSP00000328326:p.Gln141*			p.Q141*	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	521	+					Q96PZ8	Nonsense_Mutation	SNP	ENST00000327381.6	37	c.421C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	39	7.798905	0.98495	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	1.250970	0.05505	N	0.559163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.3005	18.6859	0.91563	0.0:1.0:0.0:0.0	.	.	.	.	X	141	.	ENSP00000328326:Q141X	Q	+	1	0	0	XKR4	56178023	56178023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.879000	0.69690	2.406000	0.81754	0.650000	0.86243	CAG		0.637	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2		10.828176	-27	-27	61	61	NM_052898		12	25.742621	25.742621	91	0.116505	0	0	0	1	0	12	91	0.116505	T	56015469	C	T	56015469	4	4	36	1	0	0	0	0	0	1	0	0	17430	595	21	3	423	3	XKR4	8	56015469	Nonsense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08		56015469	90348553	14	652											
C8orf38	137682	broad.mit.edu	37	8	96064453	96064453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr8:96064453C>T	ENST00000396124.4	+	8	891	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.Q198*|NDUFAF6_ENST00000286687.4_Nonsense_Mutation_p.Q138*|NDUFAF6_ENST00000542894.1_Nonsense_Mutation_p.Q238*|RNU6-1209P_ENST00000363655.1_RNA|NDUFAF6_ENST00000396113.1_Nonsense_Mutation_p.Q198*	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	290					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										TGCTTTTCTTCAGACGGTAAG	0.348																																						ENST00000396113.1											0										c.(592-594)Cag>Tag	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6						124	111	115					8																	96064453		1835	4085	5920	SO:0001587	stop_gained	137682			biosynthetic process	mitochondrion	transferase activity	g.chr8:96064453C>T	BC028166	BC028166	CCDS6266.2	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170	ENSG00000156170	ENSG00000156170		"Mitochondrial respiratory chain complex assembly factors"	"Mitochondrial respiratory chain complex assembly factors"	28625	28625	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612392	612392	"chromosome 8 open reading frame 38"	C8orf38	"chromosome 8 open reading frame 38"	C8orf38		22019594, 23509070	22019594, 23509070	Standard	Standard	NM_152416	NM_152416		Approved	MGC40214	uc003yhj.3	uc003yhj.3	Q330K2	Q330K2	OTTHUMG00000150173	OTTHUMG00000150173	ENST00000396124.4:c.868C>T	8.37:g.96064453C>T	ENSP00000379430:p.Gln290*		NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.Q198*|NDUFAF6_ENST00000542894.1_Nonsense_Mutation_p.Q238*|NDUFAF6_ENST00000396124.4_Nonsense_Mutation_p.Q290*|NDUFAF6_ENST00000286687.4_Nonsense_Mutation_p.Q138*	p.Q198*			Q330K2	CH038_HUMAN			14	1642	+			290		A8MT28|A8MWF0|B4DQ45|Q8N6U6	Nonsense_Mutation	SNP	ENST00000396124.4	37	c.592C>T	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	C	32	5.193284	0.94960	.	.	ENSG00000156170	ENST00000396113;ENST00000396111;ENST00000542894;ENST00000396124;ENST00000286687	.	.	.	5.64	5.64	0.86602	5.64	5.64	0.86602	.	20.480600	0.00166	N	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.8906	7.5839	0.27980	0.1658:0.752:0.0:0.0822	.	.	.	.	X	198;198;238;290;138	.	ENSP00000286687:Q138X	Q	+	1	0	0	C8orf38	96133629	96133629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.430000	0.44766	2.657000	0.90304	0.655000	0.94253	CAG		0.348	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2		141.578748	29	29	123	123	NM_152416		48	142.077809	142.077809	64	0.428571	0	0	0	1	0	48	64	0.428571	T	96064453	C	T	96064453	4	4	36	1	0	0	0	0	0	1	0	0	2424	827	29	3	898	3	C8orf38	8	96064453	Nonsense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08	40048984	96064453	50299569	15	653											
HEATR7A	727957	broad.mit.edu	37	8	145235339	145235339	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr8:145235339G>A	ENST00000528919.1	+	6	596	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	MROH1_ENST00000423230.2_Missense_Mutation_p.V159I|MROH1_ENST00000326134.5_Missense_Mutation_p.V159I|MROH1_ENST00000534366.1_Missense_Mutation_p.V159I|MROH1_ENST00000398656.4_Missense_Mutation_p.V159I	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	159																	GTTCGGCGTAGTCCCCTTCCT	0.692																																						ENST00000528919.1											0										c.(475-477)Gtc>Atc	maestro heat-like repeat family member 1						97	101	100					8																	145235339		2177	4250	6427	SO:0001583	missense	727957						g.chr8:145235339G>A			CCDS47938.1, CCDS47939.1, CCDS75803.1	CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	"maestro heat-like repeat containing"	26958	26958	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"HEAT repeat containing 7A"	HEATR7A	"HEAT repeat containing 7A"	HEATR7A		11347906	11347906	Standard	Standard	NM_032450	NM_032450		Approved	KIAA1833	uc003zbk.4	uc003zbk.4	Q8NDA8	Q8NDA8	OTTHUMG00000165781	OTTHUMG00000165781	ENST00000528919.1:c.475G>A	8.37:g.145235339G>A	ENSP00000435565:p.Val159Ile		MROH1_ENST00000398656.4_Missense_Mutation_p.V159I|MROH1_ENST00000423230.2_Missense_Mutation_p.V159I|MROH1_ENST00000326134.5_Missense_Mutation_p.V159I|MROH1_ENST00000534366.1_Missense_Mutation_p.V159I	p.V159I	NM_032450.2	NP_115826					6	596	+					C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	c.475G>A	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239463	0.58995	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	5.42	3.62	0.41486	5.42	3.62	0.41486	Armadillo-type fold (1);	0.000000	0.64402	U	0.000020	T	0.20007	0.0481	M	0.75447	2.3	0.80722	D	1	D;P;P;D;D	0.76494	0.999;0.911;0.911;0.972;0.965	D;B;B;D;P	0.74348	0.983;0.232;0.232;0.918;0.856	T	0.01566	-1.1323	10	0.26408	T	0.33	.	10.1834	0.42982	0.1652:0.0:0.8348:0.0	.	159;159;159;159;159	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4;Q8NDA8-5	.;.;HTR7A_HUMAN;.;.	I	159;159;159;159;159;91	ENSP00000388174:V159I;ENSP00000381649:V159I;ENSP00000436636:V159I;ENSP00000435565:V159I;ENSP00000321737:V159I	ENSP00000321737:V159I	V	+	1	0	0	HEATR7A	145307327	145307327	1.000000	0.71417	0.990000	0.47175	0.017000	0.09413	7.060000	0.76692	0.769000	0.33313	-0.258000	0.10820	GTC		0.692	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1		183.866039	-16	-16	72	72	NM_032450		61	183.87324	183.87324	59	0.508333	0	0	0	1	0	61	59	0.508333	A	145235339	G	A	145235339	3	1	36	1	0	0	0	0	1	0	0	0	7034	1029	36	3	493	3	HEATR7A	8	145235339	Missense_Mutation	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08	49170886	145235339	1128683	16	654											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		112.622501	-27	-27	85	85	NM_002072		35	112.694629	112.694629	40	0.466667	0	0	0	1	0	35	40	0.466667	G	80409488	T	G	80409488	3	3	36	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		80409488	60803943	17	655											
CCDC89	220388	broad.mit.edu	37	11	85397134	85397134	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr11:85397134T>G	ENST00000316398.3	-	1	186	c.40A>C	c.(40-42)Atg>Ctg	p.M14L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	14						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGGGTGTCCATCCTGGGAGCC	0.522																																						ENST00000316398.3											0			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(40-42)Atg>Ctg	coiled-coil domain containing 89						65	69	68					11																	85397134		2203	4299	6502	SO:0001583	missense	220388				cytoplasm|nucleus		g.chr11:85397134T>G	AK095478	AK095478	CCDS8270.1	CCDS8270.1	11q14.1	2006-03-16			2006-03-16			ENSG00000179071	ENSG00000179071	ENSG00000179071	ENSG00000179071				26762	26762	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_152723	NM_152723		Approved	FLJ38159	uc001pau.1	uc001pau.1	Q8N998	Q8N998	OTTHUMG00000166976	OTTHUMG00000166976	ENST00000316398.3:c.40A>C	11.37:g.85397134T>G	ENSP00000320649:p.Met14Leu			p.M14L	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	186	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	14			Missense_Mutation	SNP	ENST00000316398.3	37	c.40A>C	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534471	0.45073	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.195088	0.26317	N	0.025070	T	0.45316	0.1336	M	0.68317	2.08	0.30703	N	0.750139	P	0.50943	0.94	P	0.46850	0.529	T	0.56848	-0.7911	8	.	.	.	-14.4867	8.8192	0.35016	0.0:0.0845:0.0:0.9155	.	14	Q8N998	CCD89_HUMAN	L	14	.	.	M	-	1	0	0	CCDC89	85074782	85074782	0.988000	0.35896	0.988000	0.46212	0.643000	0.38383	2.299000	0.43611	2.188000	0.69820	0.533000	0.62120	ATG		0.522	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1		20.182070	7	7	98	98	NM_152723		11	28.484983	28.484983	61	0.152778	0	0	0	1	0	11	61	0.152778	G	85397134	T	G	85397134	3	3	36	1	0	0	0	0	1	0	0	0	2866	1435	50	5	1088	5	CCDC89	11	85397134	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		85397134	49609382	18	656											
NCKAP5L	57701	broad.mit.edu	37	12	50189953	50189953	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr12:50189953G>A	ENST00000335999.6	-	8	1891	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	560	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AAGGTGCTCCGAGAAAGGTCC	0.617																																						ENST00000335999.6											0			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(1690-1692)Cgg>Tgg	NCK-associated protein 5-like						28	31	30					12																	50189953		2064	4191	6255	SO:0001583	missense	57701						g.chr12:50189953G>A	AB046822	AB046822	CCDS41781.2	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566	ENSG00000167566	ENSG00000167566				29321	29321	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615104	615104	"KIAA1602"	KIAA1602	"KIAA1602"	KIAA1602				Standard	Standard	NM_001037806	NM_001037806		Approved		uc009zlk.2	uc009zlk.2	Q9HCH0	Q9HCH0	OTTHUMG00000156969	OTTHUMG00000156969	ENST00000335999.6:c.1690C>T	12.37:g.50189953G>A	ENSP00000337998:p.Arg564Trp			p.R564W	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	1891	-			560	Pro-rich.	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.1690C>T	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.88|11.88	1.771135|1.771135	0.31320|0.31320	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.47177|.	0.85|.	4.82|4.82	2.66|2.66	0.31614|0.31614	4.82|4.82	2.66|2.66	0.31614|0.31614	.|.	0.164213|.	0.29383|.	N|.	0.012313|.	T|T	0.36110|0.36110	0.0955|0.0955	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.68483|.	0.881;0.958|.	T|T	0.34453|0.34453	-0.9828|-0.9828	10|6	0.66056|0.72032	D|D	0.02|0.01	-18.4741|-18.4741	13.6948|13.6948	0.62572|0.62572	0.0:0.0:0.6836:0.3163|0.0:0.0:0.6836:0.3163	.|.	560;560|.	E2QRB5;Q9HCH0-2|.	.;.|.	W|L	564;560|278	ENSP00000337998:R564W|.	ENSP00000337998:R564W|ENSP00000402619:S278L	R|S	-|-	1|2	2|0	2|0	NCKAP5L|NCKAP5L	48476220|48476220	48476220|48476220	0.000000|0.000000	0.05858|0.05858	0.977000|0.977000	0.42913|0.42913	0.784000|0.784000	0.44337|0.44337	-0.029000|-0.029000	0.12329|0.12329	0.579000|0.579000	0.29504|0.29504	-1.367000|-1.367000	0.01198|0.01198	CGG|TCG		0.617	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2		49.901121	-17	-17	31	31	XM_035497		16	49.907555	49.907555	17	0.484848	0	0	0	1	0	16	17	0.484848	A	50189953	G	A	50189953	3	1	36	1	0	0	0	0	1	0	0	0	10224	1057	37	1	2338	1	NCKAP5L	12	50189953	Missense_Mutation	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08		50189953	83661942	19	657											
GPC5	2262	broad.mit.edu	37	13	93518657	93518658	+	Frame_Shift_Ins	INS	-	-	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr13:93518657_93518658insT	ENST00000377067.3	+	8	2056_2057	c.1684_1685insT	c.(1684-1686)atafs	p.I562fs		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	562					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATTCACTCTGATAAGTGTGGTG	0.446																																						ENST00000377067.3											0			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1684-1686)atafs	glypican 5																																			SO:0001589	frameshift_variant	2262				anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:93518657_93518658insT	AF001462	AF001462	CCDS9468.1	CCDS9468.1	13q32	2011-08-01			2011-08-01			ENSG00000179399	ENSG00000179399	ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	"Proteoglycans / Cell Surface : Glypicans"	4453	4453	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	"glypican proteoglycan 5"	602446	602446						9070915, 20304703, 19556317, 15057823	9070915, 20304703, 19556317, 15057823	Standard	Standard	NM_004466	NM_004466		Approved		uc010tif.2	uc010tif.2	P78333	P78333	OTTHUMG00000017200	OTTHUMG00000017200	ENST00000377067.3:c.1685dupT	13.37:g.93518658_93518658dupT	ENSP00000366267:p.Ile562fs			p.I562fs	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			8	2056_2057	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	562		B2R726|O60436|Q9BX27	Frame_Shift_Ins	INS	ENST00000377067.3	37	c.1684_1685insT	CCDS9468.1																																																																																									0.446	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	.	.	11	11	122	122	NM_004466		90			59	0.6						90	59	0.6	T	93518658	-	T	93518657	7	5	36	1	0	1	1	0	0	0	0	0	6601	333	12	0	1714	0	GPC5	13	93518657	Frame_Shift_Ins	INS	-	TCGA-V4-A9F8-01A-11D-A39W-08		93518657	21651221	20	658											
FLJ10357	55701	broad.mit.edu	37	14	21548919	21548919	+	Missense_Mutation	SNP	G	G	T	rs527744379		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr14:21548919G>T	ENST00000298694.4	+	12	2601	c.2474G>T	c.(2473-2475)cGt>cTt	p.R825L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R825L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	825						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTGCGATTCCGTGCTTTCAGC	0.637																																						ENST00000298694.4											0			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2473-2475)cGt>cTt	Rho guanine nucleotide exchange factor (GEF) 40						56	51	53					14																	21548919		2203	4300	6503	SO:0001583	missense	55701			regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21548919G>T			CCDS32041.1	CCDS32041.1	14q11.2	2012-07-24			2012-07-24			ENSG00000165801	ENSG00000165801	ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	"Rho guanine nucleotide exchange factors"	25516	25516	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610018	610018						16143467	16143467	Standard	Standard	NM_001278529	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	uc001vzp.3	Q8TER5	Q8TER5			ENST00000298694.4:c.2474G>T	14.37:g.21548919G>T	ENSP00000298694:p.Arg825Leu		ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R825L	p.R825L			Q8TER5	ARH40_HUMAN			12	2601	+			825		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	ENST00000298694.4	37	c.2474G>T	CCDS32041.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200219	0.58126	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02552	4.32;4.25	5.14	4.17	0.49024	5.14	4.17	0.49024	.	0.140337	0.32640	N	0.005826	T	0.02342	0.0072	N	0.19112	0.55	0.29799	N	0.832577	P;P	0.44690	0.626;0.841	B;B	0.41917	0.37;0.127	T	0.36601	-0.9741	10	0.40728	T	0.16	.	7.7204	0.28729	0.114:0.0:0.886:0.0	.	825;825	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	L	825	ENSP00000298694:R825L;ENSP00000298693:R825L	ENSP00000298693:R825L	R	+	2	0	0	ARHGEF40	20618759	20618759	0.913000	0.31002	0.998000	0.56505	0.994000	0.84299	1.078000	0.30754	2.649000	0.89929	0.655000	0.94253	CGT		0.637	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		21.787477	-11	-11	39	39			8	23.262127	23.262127	22	0.266667	1	0	0.000673444	1	0.000673444	8	22	0.266667	T	21548919	G	T	21548919	3	4	36	1	0	0	0	0	1	0	0	0	5926	1145	40	5	2520	5	FLJ10357	14	21548919	Missense_Mutation	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08		21548919	85800621	21	659											
C16orf62	57020	broad.mit.edu	37	16	19621674	19621674	+	Silent	SNP	A	A	C			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr16:19621674A>C	ENST00000251143.5	+	12	972	c.960A>C	c.(958-960)acA>acC	p.T320T	C16orf62_ENST00000542263.1_Silent_p.T409T|C16orf62_ENST00000438132.3_Silent_p.T409T|C16orf62_ENST00000448695.1_Silent_p.T170T|C16orf62_ENST00000417362.2_Silent_p.T320T|C16orf62_ENST00000543152.1_Silent_p.T69T			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	320						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCCGGTTGACATGCATGATCA	0.522																																						ENST00000438132.3											0			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(1225-1227)acA>acC	chromosome 16 open reading frame 62						106	81	90					16																	19621674		2197	4300	6497	SO:0001819	synonymous_variant	57020				integral to membrane		g.chr16:19621674A>C			CCDS32397.1, CCDS32397.2, CCDS73840.1	CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			2012-05-30			ENSG00000103544	ENSG00000103544	ENSG00000103544	ENSG00000103544				24641	24641	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10493829	10493829	Standard	Standard	NM_020314	NM_020314		Approved	MGC16824	uc002dgn.3	uc002dgn.3	Q7Z3J2	Q7Z3J2	OTTHUMG00000167925	OTTHUMG00000167925	ENST00000251143.5:c.960A>C	16.37:g.19621674A>C			C16orf62_ENST00000251143.5_Silent_p.T320T|C16orf62_ENST00000448695.1_Silent_p.T170T|C16orf62_ENST00000417362.2_Silent_p.T320T|C16orf62_ENST00000543152.1_Silent_p.T69T|C16orf62_ENST00000542263.1_Silent_p.T409T	p.T409T	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			12	1275	+			320		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.1227A>C																																																																																										0.522	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			41.175076	2	2	28	28	NM_020314		13	41.211169	41.211169	11	0.541667	0	0	0	1	0	13	11	0.541667	C	19621674	A	C	19621674	2	2	36	1	0	0	0	0	0	0	0	1	1825	204	8	5		5	C16orf62	16	19621674	Silent	SNP	A	TCGA-V4-A9F8-01A-11D-A39W-08		19621674	70733079	22	660											
TRPV2	51393	broad.mit.edu	37	17	16320989	16320989	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr17:16320989T>G	ENST00000338560.7	+	2	406	c.7T>G	c.(7-9)Tca>Gca	p.S3A	TRPV2_ENST00000577397.1_5'UTR|RP11-138I1.2_ENST00000580996.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	3	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TAGGATGACCTCACCCTCCAG	0.582																																						ENST00000338560.7											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(7-9)Tca>Gca	transient receptor potential cation channel, subfamily V, member 2						72	61	65					17																	16320989		2203	4300	6503	SO:0001583	missense	51393			sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16320989T>G	AF129112	AF129112	CCDS32576.1	CCDS32576.1	17p11.2	2013-01-10			2013-01-10			ENSG00000187688	ENSG00000187688	ENSG00000187688	ENSG00000187688		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18082	18082	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606676	606676						10201375, 16382100	10201375, 16382100	Standard	Standard	NM_016113	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	uc002gpy.3	Q9Y5S1	Q9Y5S1	OTTHUMG00000058989	OTTHUMG00000058989	ENST00000338560.7:c.7T>G	17.37:g.16320989T>G	ENSP00000342222:p.Ser3Ala		TRPV2_ENST00000577397.1_5'UTR	p.S3A	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	406	+			3	Required for interaction with SLC50A1 (By similarity).	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.7T>G	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	T	4.878	0.163160	0.09287	.	.	ENSG00000187688	ENST00000338560	D	0.88046	-2.33	5.29	-2.48	0.06423	5.29	-2.48	0.06423	.	1.305430	0.05349	N	0.531535	T	0.82033	0.4949	L	0.44542	1.39	0.09310	N	0.999996	B	0.27229	0.172	B	0.25140	0.058	T	0.69045	-0.5249	10	0.62326	D	0.03	-0.1787	9.8456	0.41026	0.1069:0.0:0.5186:0.3745	.	3	Q9Y5S1	TRPV2_HUMAN	A	3	ENSP00000342222:S3A	ENSP00000342222:S3A	S	+	1	0	0	TRPV2	16261714	16261714	0.001000	0.12720	0.030000	0.17652	0.013000	0.08279	0.147000	0.16202	-0.513000	0.06496	-1.871000	0.00553	TCA		0.582	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2		4.236573	-6	-6	78	78	NM_016113		8	18.050588	18.050588	76	0.095238	0	0	0	1	0	8	76	0.095238	G	16320989	T	G	16320989	3	3	36	1	0	0	0	0	1	0	0	0	16593	1551	54	5	9	5	TRPV2	17	16320989	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		16320989	64874221	23	661											
SMCR8	140775	broad.mit.edu	37	17	18221249	18221249	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr17:18221249C>A	ENST00000406438.3	+	1	2626	c.2146C>A	c.(2146-2148)Cag>Aag	p.Q716K	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	716						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATTCATCCGCCAGTACCCCTT	0.562																																						ENST00000406438.3											0			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(2146-2148)Cag>Aag	Smith-Magenis syndrome chromosome region, candidate 8						84	65	72					17																	18221249		2203	4300	6503	SO:0001583	missense	140775						g.chr17:18221249C>A	AF467440	AF467440	CCDS11195.2	CCDS11195.2	17p11.2	2014-06-12			2014-06-12			ENSG00000176994	ENSG00000176994	ENSG00000176994	ENSG00000176994				17921	17921	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11997338, 23248642	11997338, 23248642	Standard	Standard	NM_144775	NM_144775		Approved	FLJ34716	uc002gsy.4	uc002gsy.4	Q8TEV9	Q8TEV9	OTTHUMG00000059394	OTTHUMG00000059394	ENST00000406438.3:c.2146C>A	17.37:g.18221249C>A	ENSP00000385025:p.Gln716Lys			p.Q716K	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	2626	+			716		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.2146C>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038515	0.93630	.	.	ENSG00000176994	ENST00000406438	T	0.23950	1.88	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.21245	-1.0251	10	0.59425	D	0.04	-19.7916	20.5827	0.99408	0.0:1.0:0.0:0.0	.	716	Q8TEV9	SMCR8_HUMAN	K	716	ENSP00000385025:Q716K	ENSP00000385025:Q716K	Q	+	1	0	0	SMCR8	18161974	18161974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	CAG		0.562	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2		41.075122	-14	-14	60	60	NM_144775		16	44.361449	44.361449	46	0.258065	1	0	4.75885e-15	1	5.12491e-15	16	46	0.258065	A	18221249	C	A	18221249	3	1	36	1	0	0	0	0	1	0	0	0	14792	595	21	5	2148	5	SMCR8	17	18221249	Missense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08	1900260	18221249	62973961	24	662											
RYR1	6261	broad.mit.edu	37	19	38951204	38951204	+	Silent	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chr19:38951204C>T	ENST00000359596.3	+	20	2550	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	RYR1_ENST00000360985.3_Silent_p.F850F|RYR1_ENST00000355481.4_Silent_p.F850F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	850	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACACCGACTTCGTGCCCTGCC	0.637																																						ENST00000355481.4											0			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(2548-2550)ttC>ttT	ryanodine receptor 1 (skeletal)						41	44	43					19																	38951204		2203	4300	6503	SO:0001819	synonymous_variant	6261			muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38951204C>T	J05200	J05200	CCDS33011.1, CCDS42563.1	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17			2014-09-17				ENSG00000196218		ENSG00000196218		"Ion channels / Ryanodine receptors"	"Ion channels / Ryanodine receptors"	10483	10483	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	"protein phosphatase 1, regulatory subunit 137"	180901	180901	"central core disease of muscle"	MHS, MHS1, CCO	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	1862346, 16621918	Standard	Standard	NM_000540	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	uc002oit.3	P21817	P21817			ENST00000359596.3:c.2550C>T	19.37:g.38951204C>T			RYR1_ENST00000360985.3_Silent_p.F850F|RYR1_ENST00000359596.3_Silent_p.F850F	p.F850F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2681	+	all_cancers(60;7.91e-06)		850	6 X approximate repeats.	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2550C>T	CCDS33011.1																																																																																									0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		59.456684	-7	-7	64	64			21	61.528975	61.528975	46	0.313433	0	0	0	1	0	21	46	0.313433	T	38951204	C	T	38951204	2	4	36	1	0	0	0	0	0	0	0	1	13768	883	31	1		1	RYR1	19	38951204	Silent	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08		38951204	20177779	25	663											
MED12	9968	broad.mit.edu	37	X	70339611	70339611	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	g.chrX:70339611C>T	ENST00000374080.3	+	3	312	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	MED12_ENST00000333646.6_Missense_Mutation_p.P94S|MED12_ENST00000374102.1_Missense_Mutation_p.P94S			Q93074	MED12_HUMAN	mediator complex subunit 12	94					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)					TCGCAGGAAGCCCCAAGTGAA	0.493			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0			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						c.(280-282)Ccc>Tcc	mediator complex subunit 12						47	44	45					X																	70339611		1951	4131	6082	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:70339611C>T	U80742	U80742	CCDS43970.1	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634	ENSG00000184634	ENSG00000184634				11957	11957	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300188	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	"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	9225980, 10198638, 17334363, 20507344	Standard	Standard	NM_005120	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	uc004dyy.3	Q93074	Q93074	OTTHUMG00000021788	OTTHUMG00000021788	ENST00000374080.3:c.280C>T	X.37:g.70339611C>T	ENSP00000363193:p.Pro94Ser		MED12_ENST00000374102.1_Missense_Mutation_p.P94S|MED12_ENST00000374080.3_Missense_Mutation_p.P94S	p.P94S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			3	479	+	Renal(35;0.156)		94		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.280C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	12.58	1.979662	0.34942	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.57436	0.4;0.41;0.41;0.47	5.73	2.93	0.34026	5.73	2.93	0.34026	.	0.267486	0.37261	N	0.002166	T	0.54711	0.1875	L	0.29908	0.895	0.43719	D	0.996197	P;D;P	0.89917	0.715;1.0;0.878	P;D;P	0.91635	0.805;0.999;0.792	T	0.45145	-0.9281	10	0.26408	T	0.33	-1.1292	8.0157	0.30379	0.0:0.7222:0.1287:0.1491	.	94;94;94	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	S	94;94;94;94;62	ENSP00000333125:P94S;ENSP00000363215:P94S;ENSP00000363193:P94S;ENSP00000414203:P62S	ENSP00000333125:P94S	P	+	1	0	0	MED12	70256336	70256336	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	3.854000	0.55949	0.248000	0.21435	0.600000	0.82982	CCC		0.493	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		44.422420	-19	-19	13	13	NM_005120		12	44.422176	44.422176	0	1	0	0	0	1	0	12	0	1	T	70339611	C	T	70339611	3	4	36	1	0	0	0	0	1	0	0	0	9428	739	26	2	290	2	MED12	23	70339611	Missense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08		70339611	84930949	26	664											
TRAF3IP3	80342	broad.mit.edu	37	1	209953826	209953826	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr1:209953826C>T	ENST00000367024.1	+	15	1840	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P422S|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P442S|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P422S|TRAF3IP3_ENST00000477431.1_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	442						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCAGGCTTTGCCCGTGTGGAG	0.537																																						ENST00000367024.1											0			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1324-1326)Ccc>Tcc	TRAF3 interacting protein 3						136	131	133					1																	209953826		2203	4300	6503	SO:0001583	missense	80342				integral to membrane	protein binding	g.chr1:209953826C>T			CCDS1490.1, CCDS1490.2, CCDS73023.1	CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			2008-02-05			ENSG00000009790	ENSG00000009790	ENSG00000009790	ENSG00000009790				30766	30766	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255	608255						14572659	14572659	Standard	Standard	XR_247044	XR_247044		Approved	T3JAM	uc001hho.3	uc001hho.3	Q9Y228	Q9Y228	OTTHUMG00000036480	OTTHUMG00000036480	ENST00000367024.1:c.1324C>T	1.37:g.209953826C>T	ENSP00000355991:p.Pro442Ser		TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P422S|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P442S|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P422S	p.P442S			Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	15	1840	+			442		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.1324C>T	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	C	6.022	0.372367	0.11409	.	.	ENSG00000009790	ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.42	-2.77	0.05877	5.42	-2.77	0.05877	.	0.613895	0.15409	N	0.263868	T	0.64724	0.2624	L	0.56769	1.78	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.12156	0.007;0.005	T	0.56257	-0.8009	10	0.66056	D	0.02	0.8503	0.8309	0.01130	0.2525:0.2483:0.1132:0.386	.	442;422	Q9Y228;Q9Y228-2	T3JAM_HUMAN;.	S	442;422;442;422	ENSP00000355992:P442S;ENSP00000355993:P422S;ENSP00000355991:P442S;ENSP00000010338:P422S	ENSP00000010338:P422S	P	+	1	0	0	TRAF3IP3	208020449	208020449	0.337000	0.24766	0.035000	0.18076	0.241000	0.25554	-0.044000	0.12023	-0.292000	0.08999	0.655000	0.94253	CCC		0.537	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		-15.994303	-2	-2	129	129			4	6.60578	6.60578	95	0.040404	0	0	0	1	0	4	95	0.040404	T	209953826	C	T	209953826	3	4	37	1	0	0	0	0	1	0	0	0	16439	739	26	2	1374	2	TRAF3IP3	1	209953826	Missense_Mutation	SNP	C	TCGA-VD-A8K7-01B-11D-A39W-08		209953826	39296795	1	665											
IWS1	55677	broad.mit.edu	37	2	128283769	128283769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr2:128283769delA	ENST00000295321.4	-	1	275	c.16delT	c.(16-18)tacfs	p.Y6fs	IWS1_ENST00000455721.2_Intron|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	6					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCGCCGCTGTAATATTCCGAG	0.736																																						ENST00000295321.4											0			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(16-18)tacfs	IWS1 homolog (S. cerevisiae)						16	18	17					2																	128283769		2196	4292	6488	SO:0001589	frameshift_variant	55677			transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128283769delA	AK000868	AK000868	CCDS2146.1	CCDS2146.1	2q14.3	2006-03-17			2006-03-17			ENSG00000163166	ENSG00000163166	ENSG00000163166	ENSG00000163166				25467	25467	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_017969	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	uc002ton.2	Q96ST2	Q96ST2	OTTHUMG00000131527	OTTHUMG00000131527	ENST00000295321.4:c.16delT	2.37:g.128283769delA	ENSP00000295321:p.Tyr6fs		IWS1_ENST00000455721.2_Intron|IWS1_ENST00000486662.1_5'UTR	p.Y6fs	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	1	275	-	Colorectal(110;0.1)		6		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Frame_Shift_Del	DEL	ENST00000295321.4	37	c.16delT	CCDS2146.1																																																																																									0.736	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	.	.	-6	-6	4	4	NM_017969		2			4	0.33						2	4	0.33	-	128283769	A	-	128283769	7	5	37	1	0	1	0	1	0	0	0	0	7931	362	13	0	2499	0	IWS1	2	128283769	Frame_Shift_Del	DEL	A	TCGA-VD-A8K7-01B-11D-A39W-08		128283769	114915604	2	666											
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	rs377381152		TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca	iodotyrosine deiodinase	A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	109	113		607,607,607	2.1	0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434			cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765	ENSG00000009765	ENSG00000009765				21071	21071	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612025	612025	"chromosome 6 open reading frame 71"	C6orf71	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	16316988, 15289438	Standard	Standard	NM_001164694	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	uc003qnx.2	Q6PHW0	Q6PHW0	OTTHUMG00000016347	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr		IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203		C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	0	IYD	150757004	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3		-6.756627	-45	-45	76	76	NM_203395		4	7.658189	7.658189	66	0.057143	0	0	0	1	0	4	66	0.057143	A	150715311	G	A	150715311	3	1	37	1	0	0	0	0	1	0	0	0	7932	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-VD-A8K7-01B-11D-A39W-08		150715311	20399756	3	667											
SYNE1	23345	broad.mit.edu	37	6	152527476	152527476	+	Missense_Mutation	SNP	G	G	A	rs200236760		TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr6:152527476G>A	ENST00000367255.5	-	126	23447	c.22846C>T	c.(22846-22848)Cgg>Tgg	p.R7616W	SYNE1_ENST00000341594.5_Missense_Mutation_p.R7228W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2140W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7616W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7616					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTGTTGCCGCAGAAACACT	0.483										HNSCC(10;0.0054)			G|||	1	0.000199681	0	0.0014	5008	,	,		19022	0		0	False		,,,				2504	0					ENST00000367255.5											0			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22846-22848)Cgg>Tgg	spectrin repeat containing, nuclear envelope 1	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	70	62	65		22633,22846	2.9	1	6		65	0,8600		0,0,4300	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	7545/8750,7616/8798	152527476	1,13005	2203	4300	6503	SO:0001583	missense	23345			cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152527476G>A	AB018339	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			2014-09-17			ENSG00000131018	ENSG00000131018	ENSG00000131018	ENSG00000131018				17089	17089	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	608441	"chromosome 6 open reading frame 98"	C6orf98	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	9872452, 10878022	Standard	Standard	NM_182961	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	uc003qou.4	Q8NF91	Q8NF91	OTTHUMG00000015841	OTTHUMG00000015841	ENST00000367255.5:c.22846C>T	6.37:g.152527476G>A	ENSP00000356224:p.Arg7616Trp		SYNE1_ENST00000356820.4_Missense_Mutation_p.R2140W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7228W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7545W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7616W	p.R7616W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	126	23447	-		Ovarian(120;0.0955)	7616		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22846C>T	CCDS5236.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.50	2.553333	0.45487	2.27E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.58797	0.4;1.32;0.41;0.31;0.4;0.53;2.4;1.49	5.81	2.87	0.33458	5.81	2.87	0.33458	.	0.000000	0.49916	D	0.000124	T	0.70150	0.3191	M	0.80183	2.485	0.39897	D	0.973852	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	T	0.77710	-0.2486	10	0.87932	D	0	.	15.5823	0.76455	0.0:0.0:0.424:0.576	.	7616;7616;7545;7545	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	W	7616;262;7545;7616;7545;7228;2140;538	ENSP00000356224:R7616W;ENSP00000356226:R262W;ENSP00000396024:R7545W;ENSP00000265368:R7616W;ENSP00000390975:R7545W;ENSP00000341887:R7228W;ENSP00000349276:R2140W;ENSP00000356220:R538W	ENSP00000265368:R7616W	R	-	1	2	2	SYNE1	152569169	152569169	0.959000	0.32827	0.988000	0.46212	0.382000	0.30200	0.791000	0.26915	0.735000	0.32537	0.591000	0.81541	CGG		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		-4.116576	-5	-5	51	51	NM_182961		3	6.827062	6.827062	50	0.056604	0	0	0	1	0	3	50	0.056604	A	152527476	G	A	152527476	3	1	37	1	0	0	0	0	1	0	0	0	15442	1086	38	1	3704	1	SYNE1	6	152527476	Missense_Mutation	SNP	G	TCGA-VD-A8K7-01B-11D-A39W-08	1812165	152527476	18587591	4	668											
CCDC126	90693	broad.mit.edu	37	7	23651026	23651026	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr7:23651026A>G	ENST00000307471.3	+	3	549	c.92A>G	c.(91-93)cAc>cGc	p.H31R	CCDC126_ENST00000409765.1_Missense_Mutation_p.H31R|CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Missense_Mutation_p.H31R	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	31					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						ATGTTACTGCACTATACTTTT	0.338																																						ENST00000307471.3											0			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						c.(91-93)cAc>cGc	coiled-coil domain containing 126						129	117	121					7																	23651026		2203	4300	6503	SO:0001583	missense	90693				extracellular region		g.chr7:23651026A>G	BC012427	BC012427	CCDS5384.1	CCDS5384.1	7p15.3	2006-08-15			2006-08-15			ENSG00000169193	ENSG00000169193	ENSG00000169193	ENSG00000169193				22398	22398	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_138771	NM_138771		Approved	FLJ23031	uc003swl.3	uc003swl.3	Q96EE4	Q96EE4	OTTHUMG00000128461	OTTHUMG00000128461	ENST00000307471.3:c.92A>G	7.37:g.23651026A>G	ENSP00000304355:p.His31Arg		CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Missense_Mutation_p.H31R|CCDC126_ENST00000409765.1_Missense_Mutation_p.H31R	p.H31R	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN			3	549	+			31		A8K1J6|Q6UWP1|Q75MQ6	Missense_Mutation	SNP	ENST00000307471.3	37	c.92A>G	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104609	0.37145	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.71	4.57	0.56435	5.71	4.57	0.56435	.	0.103867	0.64402	D	0.000002	T	0.29423	0.0733	N	0.13168	0.305	0.43242	D	0.995153	B	0.02656	0.0	B	0.04013	0.001	T	0.15464	-1.0436	9	0.26408	T	0.33	-10.6117	4.6539	0.12608	0.7328:0.0:0.2672:0.0	.	31	Q96EE4	CC126_HUMAN	R	31	.	ENSP00000304355:H31R	H	+	2	0	0	CCDC126	23617551	23617551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.748000	0.62148	2.180000	0.69256	0.455000	0.32223	CAC		0.338	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1		83.722667	3	3	83	83	NM_138771		27	83.726637	83.726637	28	0.490909	0	0	0	1	0	27	28	0.490909	G	23651026	A	G	23651026	3	3	37	1	0	0	0	0	1	0	0	0	2762	159	6	4	94	4	CCDC126	7	23651026	Missense_Mutation	SNP	A	TCGA-VD-A8K7-01B-11D-A39W-08		23651026	135487637	5	669	9	2									
CCDC126	90693	broad.mit.edu	37	7	23651027	23651027	+	Silent	SNP	C	C	T			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr7:23651027C>T	ENST00000307471.3	+	3	550	c.93C>T	c.(91-93)caC>caT	p.H31H	CCDC126_ENST00000409765.1_Silent_p.H31H|CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Silent_p.H31H	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	31					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						TGTTACTGCACTATACTTTTC	0.338																																						ENST00000307471.3											0			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						c.(91-93)caC>caT	coiled-coil domain containing 126						130	118	122					7																	23651027		2203	4300	6503	SO:0001819	synonymous_variant	90693				extracellular region		g.chr7:23651027C>T	BC012427	BC012427	CCDS5384.1	CCDS5384.1	7p15.3	2006-08-15			2006-08-15			ENSG00000169193	ENSG00000169193	ENSG00000169193	ENSG00000169193				22398	22398	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_138771	NM_138771		Approved	FLJ23031	uc003swl.3	uc003swl.3	Q96EE4	Q96EE4	OTTHUMG00000128461	OTTHUMG00000128461	ENST00000307471.3:c.93C>T	7.37:g.23651027C>T			CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000410069.1_Silent_p.H31H|CCDC126_ENST00000409765.1_Silent_p.H31H	p.H31H	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN			3	550	+			31		A8K1J6|Q6UWP1|Q75MQ6	Silent	SNP	ENST00000307471.3	37	c.93C>T	CCDS5384.1																																																																																									0.338	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1		85.422544	0	0	83	83	NM_138771		27	85.426529	85.426529	28	0.490909	0	0	0	1	0	27	28	0.490909	T	23651027	C	T	23651027	2	4	37	1	0	0	0	0	0	0	0	1	2762	564	20	3		3	CCDC126	7	23651027	Silent	SNP	C	TCGA-VD-A8K7-01B-11D-A39W-08	1	23651027	135487636	6	670	9	2									
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		84.612898	-26	-26	86	86	NM_002072		27	85.163938	85.163938	40	0.402985	0	0	0	1	0	27	40	0.402985	A	80409488	T	A	80409488	3	1	37	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8K7-01B-11D-A39W-08		80409488	60803943	7	671											
PAPSS2	9060	broad.mit.edu	37	10	89472868	89472868	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr10:89472868C>T	ENST00000361175.4	+	3	551	c.182C>T	c.(181-183)gCc>gTc	p.A61V	PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	61					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATAAGTTTTGCCCTGGAGGAG	0.473																																						ENST00000361175.4											0			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(181-183)gCc>gTc	3'-phosphoadenosine 5'-phosphosulfate synthase 2						148	151	150					10																	89472868		2203	4300	6503	SO:0001583	missense	9060			3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89472868C>T	AF091242	AF091242	CCDS7385.1, CCDS44453.1	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			2008-02-07			ENSG00000198682	ENSG00000198682	ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25			8604	8604	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603005	603005						9771708	9771708	Standard	Standard	NM_004670	NM_004670		Approved	ATPSK2	uc001kex.3	uc001kex.3	O95340	O95340	OTTHUMG00000018683	OTTHUMG00000018683	ENST00000361175.4:c.182C>T	10.37:g.89472868C>T	ENSP00000354436:p.Ala61Val		PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V|PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V	p.A61V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	3	551	+		Melanoma(5;0.019)|Colorectal(252;0.123)	61		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.182C>T	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929172	0.92389	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.78364	-1.17;-1.17;-1.17	5.87	5.87	0.94306	5.87	5.87	0.94306	Adenylylsulphate kinase, C-terminal (3);	0.046950	0.85682	N	0.000000	D	0.89942	0.6861	M	0.90369	3.11	0.80722	D	1	D;D	0.76494	0.98;0.999	P;P	0.61477	0.717;0.889	D	0.91189	0.4982	10	0.87932	D	0	-17.7869	20.2245	0.98337	0.0:1.0:0.0:0.0	.	61;61	O95340;O95340-2	PAPS2_HUMAN;.	V	61;61;65;60	ENSP00000354436:A61V;ENSP00000406157:A61V;ENSP00000397123:A65V	ENSP00000354436:A61V	A	+	2	0	0	PAPSS2	89462848	89462848	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.487000	0.81328	2.770000	0.95276	0.650000	0.86243	GCC		0.473	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1		-26.019586	4	4	237	237			4	6.800836	6.800836	131	0.02963	0	0	0	1	0	4	131	0.02963	T	89472868	C	T	89472868	3	4	37	1	0	0	0	0	1	0	0	0	11435	739	26	2	192	2	PAPSS2	10	89472868	Missense_Mutation	SNP	C	TCGA-VD-A8K7-01B-11D-A39W-08		89472868	46061879	8	672											
RHBDL3	162494	broad.mit.edu	37	17	30615819	30615819	+	Silent	SNP	C	C	T			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chr17:30615819C>T	ENST00000269051.4	+	4	317	c.303C>T	c.(301-303)aaC>aaT	p.N101N	RHBDL3_ENST00000536287.1_Silent_p.N3N|RHBDL3_ENST00000538145.1_Silent_p.N93N	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	101	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				AGATGAGCAACAAGCGTTCCA	0.637																																						ENST00000269051.4											0			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(301-303)aaC>aaT	rhomboid, veinlet-like 3 (Drosophila)						35	30	32					17																	30615819		2203	4300	6503	SO:0001819	synonymous_variant	162494			proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30615819C>T	AJ313480	AJ313480	CCDS32613.1	CCDS32613.1	17q11.2	2013-01-10			2013-01-10				ENSG00000141314		ENSG00000141314		"EF-hand domain containing"	"EF-hand domain containing"	16502	16502	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4	"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	11900977	Standard	Standard	XM_006721733	XM_006721733		Approved	VRHO	uc002hhe.1	uc002hhe.1	P58872	P58872			ENST00000269051.4:c.303C>T	17.37:g.30615819C>T			RHBDL3_ENST00000538145.1_Silent_p.N93N|RHBDL3_ENST00000536287.1_Silent_p.N3N	p.N101N	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN			4	317	+		Breast(31;0.116)|Ovarian(249;0.182)	101	EF-hand 2.	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Silent	SNP	ENST00000269051.4	37	c.303C>T	CCDS32613.1																																																																																									0.637	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1		16.985428	9	9	17	17	NM_138328		5	17.610709	17.610709	1	0.833333	0	0	0	1	0	5	1	0.833333	T	30615819	C	T	30615819	2	4	37	1	0	0	0	0	0	0	0	1	13323	477	17	3		3	RHBDL3	17	30615819	Silent	SNP	C	TCGA-VD-A8K7-01B-11D-A39W-08		30615819	50579391	9	673											
NRK	203447	broad.mit.edu	37	X	105124216	105124216	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	g.chrX:105124216delT	ENST00000243300.9	+	3	451	c.148delT	c.(148-150)tttfs	p.F50fs	NRK_ENST00000536164.1_Frame_Shift_Del_p.F50fs|NRK_ENST00000428173.2_Frame_Shift_Del_p.F50fs	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GACTGGTGCATTTACAGCTGT	0.378										HNSCC(51;0.14)																												ENST00000428173.2											0			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(148-150)tttfs	Nik related kinase						74	63	66					X																	105124216		1818	4057	5875	SO:0001589	frameshift_variant	203447					ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105124216delT	BX538345	BX538345	CCDS65305.1	CCDS65305.1	Xq22.3	2008-02-05			2008-02-05			ENSG00000123572	ENSG00000123572	ENSG00000123572	ENSG00000123572				25391	25391	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300791	300791								Standard	Standard	NM_198465	NM_198465		Approved	DKFZp686A17109	uc004emd.3	uc004emd.3	Q7Z2Y5	Q7Z2Y5	OTTHUMG00000022143	OTTHUMG00000022143	ENST00000243300.9:c.148delT	X.37:g.105124216delT	ENSP00000434830:p.Phe50fs		NRK_ENST00000536164.1_Frame_Shift_Del_p.F50fs|NRK_ENST00000243300.9_Frame_Shift_Del_p.F50fs	p.F50fs			Q7Z2Y5	NRK_HUMAN			3	451	+			50	Protein kinase.	Q32ND6|Q5H9K2|Q6ZMP2	Frame_Shift_Del	DEL	ENST00000243300.9	37	c.148delT																																																																																										0.378	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	.	.	5	5	12	12	NM_198465		2			4	0.33						2	4	0.33	-	105124216	T	-	105124216	7	5	37	1	0	1	0	1	0	0	0	0	10655	1493	52	0	158	0	NRK	23	105124216	Frame_Shift_Del	DEL	T	TCGA-VD-A8K7-01B-11D-A39W-08		105124216	50146344	10	674											
PAX7	5081	broad.mit.edu	37	1	19029758	19029758	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr1:19029758A>C	ENST00000375375.3	+	7	1721	c.1123A>C	c.(1123-1125)Atg>Ctg	p.M375L	PAX7_ENST00000420770.2_Missense_Mutation_p.M375L|PAX7_ENST00000400661.3_Missense_Mutation_p.M373L	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	375					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTCCAACCACATGAACCCGGT	0.632			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(1123-1125)Atg>Ctg	paired box 7						54	55	55					1																	19029758		2203	4300	6503	SO:0001583	missense	5081			anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19029758A>C	X96743	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709	ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	"Paired boxes", "Homeoboxes / PRD class"	8621	8621	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			167410	167410	"paired box gene 7"		"paired box gene 7"			7981748, 8431641	7981748, 8431641	Standard	Standard	NM_001135254	NM_001135254		Approved	Hup1	uc001bay.3	uc001bay.3	P23759	P23759	OTTHUMG00000002433	OTTHUMG00000002433	ENST00000375375.3:c.1123A>C	1.37:g.19029758A>C	ENSP00000364524:p.Met375Leu		PAX7_ENST00000375375.3_Missense_Mutation_p.M375L|PAX7_ENST00000400661.3_Missense_Mutation_p.M373L	p.M375L	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	7	1206	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	375		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.1123A>C	CCDS186.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717407	0.68844	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	T;T;T	0.80909	-1.43;-1.43;-1.43	5.41	5.41	0.78517	5.41	5.41	0.78517	.	2.593350	0.01163	N	0.006697	D	0.83834	0.5340	M	0.65498	2.005	0.58432	D	0.999996	B;B;B	0.32382	0.055;0.134;0.368	B;B;B	0.35114	0.032;0.067;0.196	T	0.61840	-0.6980	10	0.36615	T	0.2	.	14.5614	0.68140	1.0:0.0:0.0:0.0	.	375;373;375	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	L	375;375;373	ENSP00000364524:M375L;ENSP00000403389:M375L;ENSP00000383502:M373L	ENSP00000364524:M375L	M	+	1	0	0	PAX7	18902345	18902345	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.713000	0.91408	2.179000	0.69175	0.459000	0.35465	ATG		0.632	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1		38.492012	0	0	88	88	NM_002584		12	39.031532	39.031532	21	0.363636	0	0	0	1	0	12	21	0.363636	C	19029758	A	C	19029758	3	2	38	1	0	0	0	0	1	0	0	0	11484	217	8	5	1149	5	PAX7	1	19029758	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		19029758	230220863	1	675											
WDR75	84128	broad.mit.edu	37	2	190331249	190331249	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr2:190331249C>A	ENST00000314761.4	+	13	1448	c.1388C>A	c.(1387-1389)aCa>aAa	p.T463K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	463						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ACCTTGGTTACAGCTAGCAAA	0.338																																						ENST00000314761.4											0			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(1387-1389)aCa>aAa	WD repeat domain 75						108	110	110					2																	190331249		2203	4299	6502	SO:0001583	missense	84128				nucleolus		g.chr2:190331249C>A	AK091546	AK091546	CCDS2298.1	CCDS2298.1	2q32.2	2013-01-09			2013-01-09			ENSG00000115368	ENSG00000115368	ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	"WD repeat domain containing"	25725	25725	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"	"UTP17, small subunit (SSU) processome component, homolog (yeast)"								17699751	17699751	Standard	Standard	NM_032168	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	uc002uql.1	Q8IWA0	Q8IWA0	OTTHUMG00000132660	OTTHUMG00000132660	ENST00000314761.4:c.1388C>A	2.37:g.190331249C>A	ENSP00000314193:p.Thr463Lys			p.T463K	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		13	1448	+			463		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.1388C>A	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793383	0.90453	.	.	ENSG00000115368	ENST00000314761	T	0.68181	-0.31	5.29	5.29	0.74685	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);	0.047591	0.85682	D	0.000000	T	0.82181	0.4981	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.986	D	0.83768	0.0218	10	0.87932	D	0	-19.1179	18.7417	0.91775	0.0:1.0:0.0:0.0	.	463;463	A8K330;Q8IWA0	.;WDR75_HUMAN	K	463	ENSP00000314193:T463K	ENSP00000314193:T463K	T	+	2	0	0	WDR75	190039494	190039494	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	6.531000	0.73820	2.752000	0.94435	0.655000	0.94253	ACA		0.338	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1		-2.915786	6	6	71	71	NM_032168		3	6.660141	6.660141	45	0.0625	1	0	1	1	1	3	45	0.0625	A	190331249	C	A	190331249	3	1	38	1	0	0	0	0	1	0	0	0	17322	478	17	5	1438	5	WDR75	2	190331249	Missense_Mutation	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		190331249	52868124	2	676											
ANO10	55129	ucsc.edu	37	3	43596927	43596927	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr3:43596927T>C	ENST00000292246.3	-	10	1681	c.1511A>G	c.(1510-1512)cAg>cGg	p.Q504R	ANO10_ENST00000396091.3_Missense_Mutation_p.Q438R|ANO10_ENST00000350459.4_Missense_Mutation_p.Q314R|ANO10_ENST00000451430.2_Missense_Mutation_p.Q393R|ANO10_ENST00000414522.2_Missense_Mutation_p.Q504R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	504					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATAACCAAACTGCAGGAATAA	0.343																																																	0																	90	88	89					3																	43596927		2203	4300	6503	SO:0001583	missense	55129							AL832508	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746	ENSG00000160746	ENSG00000160746		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25519	25519	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613726	613726	"transmembrane protein 16K"	TMEM16K	"transmembrane protein 16K"	TMEM16K		12477932, 24692353	12477932, 24692353	Standard	Standard	NM_001204831	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	uc003cmv.3	Q9NW15	Q9NW15	OTTHUMG00000133044	OTTHUMG00000133044	ENST00000292246.3:c.1511A>G	3.37:g.43596927T>C	ENSP00000292246:p.Gln504Arg																	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37		CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536127	0.64972	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.067852	0.64402	D	0.000010	D	0.84844	0.5562	M	0.88377	2.95	0.37000	D	0.895229	D;D;D;D;D	0.89917	0.995;0.999;1.0;0.995;0.996	D;D;D;D;D	0.76575	0.959;0.988;0.986;0.972;0.984	D	0.89198	0.3555	10	0.87932	D	0	.	10.4237	0.44365	0.1454:0.0:0.0:0.8545	.	393;504;314;438;504	Q9NW15-4;C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;.;ANO10_HUMAN	R	504;314;438;504;393	ENSP00000292246:Q504R;ENSP00000327767:Q314R;ENSP00000379398:Q438R;ENSP00000396990:Q504R;ENSP00000394119:Q393R	ENSP00000292246:Q504R	Q	-	2	0	0	ANO10	43571931	43571931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.466000	0.53071	1.990000	0.58119	0.533000	0.62120	CAG		0.343	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2			9	9	50	50	NM_018075		4			19							4	19		C	43596927	T	C	43596927	3	2	38	1	0	0	0	0	1	0	0	0	696	1580	55	4	487	4	ANO10	3	43596927	Missense_Mutation	SNP	T	TCGA-VD-A8K8-01A-11D-A39W-08		43596927	154425503	3	677											
SOX14	8403	broad.mit.edu	37	3	137484271	137484271	+	Silent	SNP	C	C	G			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr3:137484271C>G	ENST00000306087.1	+	1	693	c.645C>G	c.(643-645)ccC>ccG	p.P215P		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	215					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						TGCAGCCCCCCGTCGCCTACA	0.662																																						ENST00000306087.1											0			large_intestine(2)|lung(12)	14						c.(643-645)ccC>ccG	SRY (sex determining region Y)-box 14						45	34	38					3																	137484271		2202	4293	6495	SO:0001819	synonymous_variant	8403			negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484271C>G	AJ006230	AJ006230	CCDS3094.1	CCDS3094.1	3q22-q23	2008-07-18			2008-07-18			ENSG00000168875	ENSG00000168875	ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	"SRY (sex determining region Y)-boxes"	11193	11193	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	"HMG box transcription factor SOX-14", "SRY-box 14"	604747	604747						9925951	9925951	Standard	Standard	NM_004189	NM_004189		Approved	SOX28	uc003erm.2	uc003erm.2	O95416	O95416	OTTHUMG00000159757	OTTHUMG00000159757	ENST00000306087.1:c.645C>G	3.37:g.137484271C>G				p.P215P	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	693	+			215		B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.645C>G	CCDS3094.1																																																																																									0.662	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1		28.978313	1	1	42	42	NM_004189		9	29.229943	29.229943	5	0.642857	0	0	0	1	0	9	5	0.642857	G	137484271	C	G	137484271	2	3	38	1	0	0	0	0	0	0	0	1	14945	639	23	5		5	SOX14	3	137484271	Silent	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08	93887344	137484271	60538159	4	678											
RNASEN	29102	broad.mit.edu	37	5	31526492	31526492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr5:31526492delT	ENST00000511367.2	-	4	792	c.548delA	c.(547-549)aatfs	p.N183fs	DROSHA_ENST00000344624.3_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_Frame_Shift_Del_p.N183fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	183	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTGGAAACTATTAAAACTGGG	0.522																																						ENST00000511367.2											0			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(547-549)aatfs	drosha, ribonuclease type III						69	69	69					5																	31526492		1872	4115	5987	SO:0001589	frameshift_variant	29102			gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526492delT	AF116910	AF116910	CCDS47194.1, CCDS47195.1	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	ENSG00000113360	ENSG00000113360	3.1.26.3			17904	17904	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	608828	"ribonuclease type III, nuclear"	RNASEN	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	10713462, 10948199	Standard	Standard	NM_013235	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	uc003jhg.2	Q9NRR4	Q9NRR4	OTTHUMG00000161976	OTTHUMG00000161976	ENST00000511367.2:c.548delA	5.37:g.31526492delT	ENSP00000425979:p.Asn183fs		DROSHA_ENST00000513349.1_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.N183fs	p.N183fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			4	792	-			183	Pro-rich.	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Frame_Shift_Del	DEL	ENST00000511367.2	37	c.548delA	CCDS47195.1																																																																																									0.522	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	.	.	-3	-3	59	59	NM_013235		26			28	0.48						26	28	0.48	-	31526492	T	-	31526492	7	5	38	1	0	1	0	1	0	0	0	0	13417	1493	52	0	3704	0	RNASEN	5	31526492	Frame_Shift_Del	DEL	T	TCGA-VD-A8K8-01A-11D-A39W-08		31526492	149388768	5	679											
SYNGAP1	8831	broad.mit.edu	37	6	33403335	33403335	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr6:33403335C>T	ENST00000418600.2	+	7	808	c.707C>T	c.(706-708)gCg>gTg	p.A236V	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	236	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGTCGGTCTGCGGCCGAAAGA	0.507																																						ENST00000418600.2											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(706-708)gCg>gTg	synaptic Ras GTPase activating protein 1						178	163	168					6																	33403335		2203	4300	6503	SO:0001583	missense	8831			negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33403335C>T	AB067525	AB067525	CCDS34434.2	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283	ENSG00000197283	ENSG00000197283				11497	11497	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603384	603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"		"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	9581761, 18323856	Standard	Standard	NM_006772	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	uc011dri.2	Q96PV0	Q96PV0	OTTHUMG00000031096	OTTHUMG00000031096	ENST00000418600.2:c.707C>T	6.37:g.33403335C>T	ENSP00000403636:p.Ala236Val		SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V	p.A236V	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			7	808	+			236	PH.	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.707C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	33	5.223162	0.95139	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.93366	-3.21;-3.21;-3.21	4.62	4.62	0.57501	4.62	4.62	0.57501	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	M	0.80746	2.51	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.979	B;P;P	0.53689	0.446;0.648;0.732	D	0.95111	0.8238	10	0.87932	D	0	.	15.0065	0.71516	0.0:1.0:0.0:0.0	.	236;236;236	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	V	236;236;236;177	ENSP00000293748:A236V;ENSP00000403636:A236V;ENSP00000412475:A177V	ENSP00000293748:A236V	A	+	2	0	0	SYNGAP1	33511313	33511313	1.000000	0.71417	0.958000	0.39756	0.962000	0.63368	7.651000	0.83577	2.391000	0.81399	0.591000	0.81541	GCG		0.507	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4		-23.911289	-8	-8	174	174	XM_166407		4	6.896118	6.896118	124	0.03125	0	0	0	1	0	4	124	0.03125	T	33403335	C	T	33403335	3	4	38	1	0	0	0	0	1	0	0	0	15444	768	27	1	733	1	SYNGAP1	6	33403335	Missense_Mutation	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		33403335	137711732	6	680											
SYNE1	23345	ucsc.edu	37	6	152631012	152631012	+	Silent	SNP	G	G	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr6:152631012G>A	ENST00000367255.5	-	90	17761	c.17160C>T	c.(17158-17160)agC>agT	p.S5720S	SYNE1_ENST00000341594.5_Silent_p.S5332S|SYNE1_ENST00000265368.4_Silent_p.S5720S|SYNE1_ENST00000423061.1_Silent_p.S5649S|SYNE1_ENST00000356820.4_Silent_p.S244S|SYNE1_ENST00000448038.1_Silent_p.S5649S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5720					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGCAGCCGGCTGGCCTCTT	0.582										HNSCC(10;0.0054)																																							0																	61	57	58					6																	152631012		2203	4300	6503	SO:0001819	synonymous_variant	23345							AB018339	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			2014-09-17			ENSG00000131018	ENSG00000131018	ENSG00000131018	ENSG00000131018				17089	17089	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	608441	"chromosome 6 open reading frame 98"	C6orf98	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	9872452, 10878022	Standard	Standard	NM_182961	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	uc003qou.4	Q8NF91	Q8NF91	OTTHUMG00000015841	OTTHUMG00000015841	ENST00000367255.5:c.17160C>T	6.37:g.152631012G>A																		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37		CCDS5236.2																																																																																									0.582	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2			-8	-8	33	33	NM_182961		4			35							4	35		A	152631012	G	A	152631012	2	1	38	1	0	0	0	0	0	0	0	1	15442	1194	42	2		2	SYNE1	6	152631012	Silent	SNP	G	TCGA-VD-A8K8-01A-11D-A39W-08	119227677	152631012	18484055	7	681											
TRIM4	89122	broad.mit.edu	37	7	99489863	99489863	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr7:99489863C>T	ENST00000355947.2	-	7	1555	c.1426G>A	c.(1426-1428)Gtc>Atc	p.V476I	TRIM4_ENST00000349062.2_Missense_Mutation_p.V450I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	476	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGCGTGAGACAGAAGAACAA	0.502																																						ENST00000355947.2											0			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(1426-1428)Gtc>Atc	tripartite motif containing 4						111	105	107					7																	99489863		2203	4300	6503	SO:0001583	missense	89122			protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99489863C>T	AF220023	AF220023	CCDS5678.1, CCDS5679.1	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833	ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	16275	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"	"tripartite motif protein TRIM4", "tripartite motif protein 4"			"tripartite motif-containing 4"		"tripartite motif-containing 4"			11331580	11331580	Standard	Standard	NM_033017	NM_033017		Approved	RNF87	uc003use.3	uc003use.3	Q9C037	Q9C037	OTTHUMG00000156648	OTTHUMG00000156648	ENST00000355947.2:c.1426G>A	7.37:g.99489863C>T	ENSP00000348216:p.Val476Ile		TRIM4_ENST00000349062.2_Missense_Mutation_p.V450I	p.V476I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			7	1555	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	476	B30.2/SPRY.	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.1426G>A	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	C	5.143	0.211907	0.09757	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.60672	0.17;0.17	2.64	-1.47	0.08772	2.64	-1.47	0.08772	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.28863	0.0716	N	0.04203	-0.255	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.003;0.005	T	0.13361	-1.0512	9	0.41790	T	0.15	.	4.0111	0.09623	0.0:0.3024:0.1947:0.5028	.	450;476	Q9C037-2;Q9C037	.;TRIM4_HUMAN	I	476;450;306	ENSP00000348216:V476I;ENSP00000275736:V450I	ENSP00000275736:V450I	V	-	1	0	0	TRIM4	99327799	99327799	0.000000	0.05858	0.000000	0.03702	0.398000	0.30690	-0.272000	0.08560	-0.378000	0.07918	-0.136000	0.14681	GTC		0.502	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1		47.928694	13	13	93	93	NM_033017		18	49.515616	49.515616	38	0.321429	0	0	0	1	0	18	38	0.321429	T	99489863	C	T	99489863	3	4	38	1	0	0	0	0	1	0	0	0	16511	478	17	3	80	3	TRIM4	7	99489863	Missense_Mutation	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		99489863	59648800	8	682											
CSMD1	64478	broad.mit.edu	37	8	3263679	3263679	+	Silent	SNP	C	C	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr8:3263679C>T	ENST00000520002.1	-	16	2694	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	CSMD1_ENST00000539096.1_Silent_p.R712R|CSMD1_ENST00000542608.1_Silent_p.R712R|CSMD1_ENST00000602557.1_Silent_p.R713R|CSMD1_ENST00000537824.1_Silent_p.R712R|CSMD1_ENST00000602723.1_Silent_p.R713R|CSMD1_ENST00000400186.3_Silent_p.R713R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	713	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGAGTAGAAACCTGTCACCAA	0.453																																						ENST00000602557.1											0			breast(20)|large_intestine(5)	25						c.(2137-2139)agG>agA	CUB and Sushi multiple domains 1						48	49	49					8																	3263679		1886	4120	6006	SO:0001819	synonymous_variant	64478				integral to membrane		g.chr8:3263679C>T					8p23.2	2012-04-17			2012-04-17			ENSG00000183117	ENSG00000183117	ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	14026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	"protein phosphatase 1, regulatory subunit 24"	608397	608397								Standard	Standard	NM_033225	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	uc022aqr.1	Q96PZ7	Q96PZ7	OTTHUMG00000163605	OTTHUMG00000163605	ENST00000520002.1:c.2139G>A	8.37:g.3263679C>T			CSMD1_ENST00000520002.1_Silent_p.R713R|CSMD1_ENST00000537824.1_Silent_p.R712R|CSMD1_ENST00000602723.1_Silent_p.R713R|CSMD1_ENST00000400186.3_Silent_p.R713R|CSMD1_ENST00000539096.1_Silent_p.R712R|CSMD1_ENST00000542608.1_Silent_p.R712R	p.R713R			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2694	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	713	Sushi 4.	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2139G>A		.	.	.	.	.	.	.	.	.	.	C	0.402	-0.917671	0.02396	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.46	2.26	0.28386	5.46	2.26	0.28386	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.41946	D	0.990636	.	.	.	.	.	.	T	0.49133	-0.8971	4	.	.	.	.	7.148	0.25593	0.1187:0.6047:0.0:0.2767	.	.	.	.	I	193	.	.	V	-	1	0	0	CSMD1	3251086	3251086	0.217000	0.23597	0.883000	0.34634	0.018000	0.09664	-0.404000	0.07205	0.675000	0.31264	-0.126000	0.14955	GTT		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		19.115391	-3	-3	18	18	NM_033225		5	19.084596	19.084596	0	1	0	0	0	1	0	5	0	1	T	3263679	C	T	3263679	2	4	38	1	0	0	0	0	0	0	0	1	3944	506	18	3		3	CSMD1	8	3263679	Silent	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		3263679	143100343	9	683											
PDP1	54704	broad.mit.edu	37	8	94935040	94935040	+	Silent	SNP	G	G	A	rs138553326		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr8:94935040G>A	ENST00000297598.4	+	2	1022	c.753G>A	c.(751-753)gcG>gcA	p.A251A	PDP1_ENST00000396200.3_Silent_p.A276A|PDP1_ENST00000520728.1_Silent_p.A251A|PDP1_ENST00000517764.1_Silent_p.A251A	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	251					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCTTGGAGGCGCAAGTTGGTG	0.463																																						ENST00000396200.3											0			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(826-828)gcG>gcA	pyruvate dehyrogenase phosphatase catalytic subunit 1	G	,,,,	0,4406		0,0,2203	124	125	124		930,828,828,753,753	-2.5	1	8	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDP1	NM_001161778.1,NM_001161779.1,NM_001161780.1,NM_001161781.1,NM_018444.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	310/597,276/563,276/563,251/538,251/538	94935040	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54704			pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935040G>A	AF155661	AF155661	CCDS6259.1, CCDS55262.1	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	9279	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605993	605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	8396421	Standard	Standard	NM_001161779	NM_001161779		Approved	PDP, PDH	uc003ygf.3	uc003ygf.3	Q9P0J1	Q9P0J1			ENST00000297598.4:c.753G>A	8.37:g.94935040G>A			PDP1_ENST00000297598.4_Silent_p.A251A|PDP1_ENST00000520728.1_Silent_p.A251A|PDP1_ENST00000517764.1_Silent_p.A251A	p.A276A	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	1104	+			251		B3KX71|J3KPU0|Q5U5K1	Silent	SNP	ENST00000297598.4	37	c.828G>A	CCDS6259.1																																																																																									0.463	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2		-56.406475	0	0	133	133	NM_018444		4	6.597551	6.597551	235	0.016736	0	0	0	1	0	4	235	0.016736	A	94935040	G	A	94935040	2	1	38	1	0	0	0	0	0	0	0	1	11685	1074	38	1		1	PDP1	8	94935040	Silent	SNP	G	TCGA-VD-A8K8-01A-11D-A39W-08	91671361	94935040	51428982	10	684											
MYOF	26509	broad.mit.edu	37	10	95111448	95111448	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr10:95111448T>A	ENST00000359263.4	-	33	3636	c.3637A>T	c.(3637-3639)Atg>Ttg	p.M1213L	MYOF_ENST00000371502.4_Missense_Mutation_p.M1213L|MYOF_ENST00000358334.5_Missense_Mutation_p.M1200L|MYOF_ENST00000371501.4_Missense_Mutation_p.M1213L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1213	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAAGTTCCATGATAACTTTG	0.403																																						ENST00000371501.4											0			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3637-3639)Atg>Ttg	myoferlin						119	116	117					10																	95111448		1812	4082	5894	SO:0001583	missense	26509			blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95111448T>A	AB033033	AB033033	CCDS41550.1, CCDS41551.1	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119	ENSG00000138119	ENSG00000138119				3656	3656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fer-1-like family member 3"	"fer-1-like family member 3"	604603	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	10607832, 10995573, 17702744	Standard	Standard	NM_013451	NM_013451		Approved	KIAA1207	uc001kin.3	uc001kin.3	Q9NZM1	Q9NZM1	OTTHUMG00000018772	OTTHUMG00000018772	ENST00000359263.4:c.3637A>T	10.37:g.95111448T>A	ENSP00000352208:p.Met1213Leu		MYOF_ENST00000359263.4_Missense_Mutation_p.M1213L|MYOF_ENST00000358334.5_Missense_Mutation_p.M1200L|MYOF_ENST00000371502.4_Missense_Mutation_p.M1213L	p.M1213L			Q9NZM1	MYOF_HUMAN			33	3759	-			1213	C2 4.	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3637A>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	0.882	-0.728473	0.03135	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.77	3.44	0.39384	5.77	3.44	0.39384	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.384015	0.30602	N	0.009262	T	0.22589	0.0545	N	0.00873	-1.125	0.19575	N	0.999969	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21999	-1.0229	10	0.13853	T	0.58	-3.3848	9.1397	0.36897	0.0:0.2068:0.0:0.7932	.	1200;1213	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	L	1200;1213;1213;1213	ENSP00000351094:M1200L;ENSP00000352208:M1213L;ENSP00000360556:M1213L;ENSP00000360557:M1213L	ENSP00000351094:M1200L	M	-	1	0	0	MYOF	95101438	95101438	0.999000	0.42202	0.039000	0.18376	0.239000	0.25481	0.708000	0.25719	0.458000	0.26988	-0.297000	0.09499	ATG		0.403	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		75.958055	7	7	98	98	NM_013451		25	76.629234	76.629234	39	0.390625	0	0	0	1	0	25	39	0.390625	A	95111448	T	A	95111448	3	1	38	1	0	0	0	0	1	0	0	0	10089	1464	51	5	2636	5	MYOF	10	95111448	Missense_Mutation	SNP	T	TCGA-VD-A8K8-01A-11D-A39W-08		95111448	40423299	11	685											
ANKK1	255239	broad.mit.edu	37	11	113270063	113270063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr11:113270063G>T	ENST00000303941.3	+	8	1466	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	458							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GGATGCCCAGGAACGTGAAGG	0.617																																						ENST00000303941.3											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1372-1374)Gaa>Taa	ankyrin repeat and kinase domain containing 1						19	22	21					11																	113270063		2100	4217	6317	SO:0001587	stop_gained	255239					ATP binding|protein serine/threonine kinase activity	g.chr11:113270063G>T	AJ541797	AJ541797	CCDS44734.1	CCDS44734.1	11q23.2	2013-01-10			2013-01-10			ENSG00000170209	ENSG00000170209	ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	21027	21027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608774	608774						15146457	15146457	Standard	Standard	NM_178510	NM_178510		Approved	X-kinase	uc001pny.3	uc001pny.3	Q8NFD2	Q8NFD2	OTTHUMG00000167715	OTTHUMG00000167715	ENST00000303941.3:c.1372G>T	11.37:g.113270063G>T	ENSP00000306678:p.Glu458*			p.E458*	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	1466	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	458			Nonsense_Mutation	SNP	ENST00000303941.3	37	c.1372G>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978195	0.74360	.	.	ENSG00000170209	ENST00000303941	.	.	.	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-31.0765	17.083	0.86603	0.0:0.0:1.0:0.0	.	.	.	.	X	458	.	ENSP00000306678:E458X	E	+	1	0	0	ANKK1	112775273	112775273	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.465000	0.80898	2.498000	0.84270	0.557000	0.71058	GAA		0.617	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1		11.198050	0	0	10	10	NM_178510		4	11.222342	11.222342	5	0.444444	1	0	0.014758	1	0.0161635	4	5	0.444444	T	113270063	G	T	113270063	4	4	38	1	0	0	0	0	0	1	0	0	631	1175	41	5	1402	5	ANKK1	11	113270063	Nonsense_Mutation	SNP	G	TCGA-VD-A8K8-01A-11D-A39W-08		113270063	21736453	12	686											
OR10G4	390264	broad.mit.edu	37	11	123886874	123886874	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr11:123886874T>C	ENST00000320891.4	+	1	593	c.593T>C	c.(592-594)aTc>aCc	p.I198T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGATGGTCATCTTTGTGGAC	0.547																																						ENST00000320891.4											0			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(592-594)aTc>aCc	olfactory receptor, family 10, subfamily G, member 4						268	217	234					11																	123886874		2201	4299	6500	SO:0001583	missense	390264			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886874T>C	AB065757	AB065757	CCDS31702.1	CCDS31702.1	11q24.1	2012-08-09			2012-08-09			ENSG00000254737	ENSG00000254737	ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	14809	14809	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004462	NM_001004462		Approved		uc010sac.2	uc010sac.2	Q8NGN3	Q8NGN3	OTTHUMG00000165966	OTTHUMG00000165966	ENST00000320891.4:c.593T>C	11.37:g.123886874T>C	ENSP00000325076:p.Ile198Thr			p.I198T	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	593	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	198		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.593T>C	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	t	6.532	0.466481	0.12402	.	.	ENSG00000254737	ENST00000320891	T	0.00145	8.67	3.33	3.33	0.38152	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.141128	0.32444	N	0.006091	T	0.00178	0.0005	N	0.20445	0.575	0.29292	N	0.869291	D	0.59767	0.986	D	0.63113	0.911	T	0.62421	-0.6858	10	0.33940	T	0.23	.	8.0035	0.30310	0.0:0.1052:0.0:0.8948	.	198	Q8NGN3	O10G4_HUMAN	T	198	ENSP00000325076:I198T	ENSP00000325076:I198T	I	+	2	0	0	OR10G4	123392084	123392084	0.000000	0.05858	0.936000	0.37596	0.063000	0.16089	0.075000	0.14686	1.529000	0.49120	0.473000	0.43528	ATC		0.547	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1		150.552488	13	13	125	125	NM_001004462		46	150.562175	150.562175	44	0.511111	0	0	0	1	0	46	44	0.511111	C	123886874	T	C	123886874	3	2	38	1	0	0	0	0	1	0	0	0	10901	1435	50	4	595	4	OR10G4	11	123886874	Missense_Mutation	SNP	T	TCGA-VD-A8K8-01A-11D-A39W-08	10616811	123886874	11119642	13	687											
GRIN2B	2904	broad.mit.edu	37	12	13717090	13717090	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr12:13717090G>A	ENST00000609686.1	-	13	3291	c.3082C>T	c.(3082-3084)Ccc>Tcc	p.P1028S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1028					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGGAGGAGGGGAGGCCGATG	0.597																																						ENST00000609686.1											0			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3082-3084)Ccc>Tcc	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						90	70	77					12																	13717090		2203	4300	6503	SO:0001583	missense	2904			response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717090G>A			CCDS8662.1	CCDS8662.1	12p13.1	2014-07-16			2014-07-16			ENSG00000273079		ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	4586	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138252	138252		NMDAR2B		NMDAR2B		1350383	1350383	Standard	Standard	NM_000834	NM_000834		Approved	GluN2B	uc001rbt.2	uc001rbt.2	Q13224	Q13224	OTTHUMG00000137373	OTTHUMG00000137373	ENST00000609686.1:c.3082C>T	12.37:g.13717090G>A	ENSP00000477455:p.Pro1028Ser			p.P1028S	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3291	-					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3082C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169345	0.57584	.	.	ENSG00000150086	ENST00000279593	T	0.11930	2.73	5.57	4.68	0.58851	5.57	4.68	0.58851	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.250220	0.41097	D	0.000952	T	0.09992	0.0245	N	0.25647	0.755	0.53688	D	0.999974	B	0.33448	0.412	B	0.26310	0.068	T	0.11084	-1.0602	10	0.52906	T	0.07	.	12.9157	0.58205	0.0755:0.0:0.9245:0.0	.	1028	Q13224	NMDE2_HUMAN	S	1028	ENSP00000279593:P1028S	ENSP00000279593:P1028S	P	-	1	0	0	GRIN2B	13608357	13608357	1.000000	0.71417	0.860000	0.33809	0.986000	0.74619	4.750000	0.62162	1.363000	0.46019	0.650000	0.86243	CCC		0.597	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		43.344087	2	2	38	38			14	43.57521	43.57521	20	0.411765	0	0	0	1	0	14	20	0.411765	A	13717090	G	A	13717090	3	1	38	1	0	0	0	0	1	0	0	0	6780	1232	43	3	1376	3	GRIN2B	12	13717090	Missense_Mutation	SNP	G	TCGA-VD-A8K8-01A-11D-A39W-08		13717090	120134805	14	688											
C14orf21	161424	broad.mit.edu	37	14	24769766	24769766	+	Missense_Mutation	SNP	C	C	T	rs148747544		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr14:24769766C>T	ENST00000267425.3	+	2	493	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.R134C|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	134							poly(A) RNA binding (GO:0044822)										CTCTAACTTGCGCACTGTGGC	0.572																																						ENST00000267425.3											0										c.(400-402)Cgc>Tgc	NOP9 nucleolar protein	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	212	185	194		400	5	0.1	14	dbSNP_134	194	0,8600		0,0,4300	no	missense	C14orf21	NM_174913.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	134/637	24769766	1,13005	2203	4300	6503	SO:0001583	missense	161424						g.chr14:24769766C>T			CCDS9624.1, CCDS66616.1	CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943	ENSG00000196943	ENSG00000196943				19826	19826	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21	"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	21653694	Standard	Standard	XM_005267385	XM_005267385		Approved		uc001wol.1	uc001wol.1	Q86U38	Q86U38	OTTHUMG00000029342	OTTHUMG00000029342	ENST00000267425.3:c.400C>T	14.37:g.24769766C>T	ENSP00000267425:p.Arg134Cys		NOP9_ENST00000396802.3_Missense_Mutation_p.R134C	p.R134C	NM_174913.1	NP_777573.1					2	493	+					A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.400C>T	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600058	0.66332	2.27E-4	0.0	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.14144	2.53;2.53	4.96	4.96	0.65561	4.96	4.96	0.65561	Armadillo-like helical (1);Armadillo-type fold (1);	0.301944	0.31963	N	0.006784	T	0.31009	0.0783	M	0.68593	2.085	0.21822	N	0.999527	D	0.76494	0.999	P	0.57960	0.83	T	0.06481	-1.0824	10	0.38643	T	0.18	-12.0003	17.1191	0.86697	0.0:1.0:0.0:0.0	.	134	Q86U38	CN021_HUMAN	C	134	ENSP00000267425:R134C;ENSP00000380020:R134C	ENSP00000267425:R134C	R	+	1	0	0	C14orf21	23839606	23839606	0.790000	0.28787	0.106000	0.21319	0.538000	0.34931	4.099000	0.57755	2.558000	0.86282	0.655000	0.94253	CGC		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2		-57.411262	-4	-4	279	279			4	6.573211	6.573211	238	0.016529	0	0	0	1	0	4	238	0.016529	T	24769766	C	T	24769766	3	4	38	1	0	0	0	0	1	0	0	0	1769	768	27	1	406	1	C14orf21	14	24769766	Missense_Mutation	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		24769766	82579774	15	689											
MAPK8IP3	23162	ucsc.edu	37	16	1808152	1808152	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr16:1808152A>G	ENST00000250894.4	+	9	1374	c.1217A>G	c.(1216-1218)gAg>gGg	p.E406G	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E406G	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	406					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCGCCAGGGGAGTTCTCAGGT	0.567																																																	0																	106	111	109					16																	1808152		2025	4170	6195	SO:0001583	missense	23162							AB028989	AB028989	CCDS10442.2, CCDS45379.1	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			2009-11-23			ENSG00000138834	ENSG00000138834	ENSG00000138834	ENSG00000138834				6884	6884	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	"homolog of Drosophila Sunday driver 2"	605431	605431						10523642, 10629060	10523642, 10629060	Standard	Standard	XM_005255187	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	uc002cmk.3	Q9UPT6	Q9UPT6	OTTHUMG00000128637	OTTHUMG00000128637	ENST00000250894.4:c.1217A>G	16.37:g.1808152A>G	ENSP00000250894:p.Glu406Gly																	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37		CCDS10442.2	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814693	0.50527	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.34859	1.34;1.38	5.21	5.21	0.72293	5.21	5.21	0.72293	.	.	.	.	.	T	0.29976	0.0750	L	0.33485	1.01	0.54753	D	0.999989	B;B	0.23540	0.005;0.087	B;B	0.26416	0.01;0.069	T	0.06197	-1.0840	9	0.25751	T	0.34	1.3005	14.751	0.69525	1.0:0.0:0.0:0.0	.	407;406	B7ZMF3;Q9UPT6	.;JIP3_HUMAN	G	406	ENSP00000250894:E406G;ENSP00000348290:E406G	ENSP00000250894:E406G	E	+	2	0	0	MAPK8IP3	1748153	1748153	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.218000	0.77991	1.985000	0.57927	0.459000	0.35465	GAG		0.567	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2			-9	-9	38	38	NM_001040439		4			21							4	21		G	1808152	A	G	1808152	3	3	38	1	0	0	0	0	1	0	0	0	9286	304	11	4	1263	4	MAPK8IP3	16	1808152	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		1808152	88546601	16	690											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		57.660845	-9	-9	70	70	NM_002067		20	57.66711	57.66711	21	0.487805	0	0	0	1	0	20	21	0.487805	T	3118942	A	T	3118942	3	4	38	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		3118942	56010041	17	691											
ITGB1BP3	27231	broad.mit.edu	37	19	3941074	3941074	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:3941074G>A	ENST00000168977.2	+	7	691	c.401G>A	c.(400-402)cGc>cAc	p.R134H	NMRK2_ENST00000599576.1_Intron|NMRK2_ENST00000593949.1_Missense_Mutation_p.R139H	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	134					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TGCAGTACCCGCAACTACACA	0.577																																						ENST00000168977.2											0										c.(400-402)cGc>cAc	nicotinamide riboside kinase 2						153	130	138					19																	3941074		2203	4300	6503	SO:0001583	missense	27231						g.chr19:3941074G>A	AF190819	AF190819	CCDS12115.1, CCDS74259.1	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009	ENSG00000077009	ENSG00000077009				17871	17871	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"muscle-specific beta 1 integrin binding protein", "nicotinamide riboside kinase 2"	"muscle-specific beta 1 integrin binding protein", "nicotinamide riboside kinase 2"	608705	608705	"integrin beta 1 binding protein 3"	ITGB1BP3	"integrin beta 1 binding protein 3"	ITGB1BP3		10613898, 15137942	10613898, 15137942	Standard	Standard	NM_170678	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	uc002lyz.4	Q9NPI5	Q9NPI5	OTTHUMG00000181758	OTTHUMG00000181758	ENST00000168977.2:c.401G>A	19.37:g.3941074G>A	ENSP00000168977:p.Arg134His		NMRK2_ENST00000599576.1_Intron|NMRK2_ENST00000593949.1_Missense_Mutation_p.R139H	p.R134H	NM_170678.2	NP_733778.1					7	691	+					B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP	ENST00000168977.2	37	c.401G>A	CCDS12115.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615742	0.66672	.	.	ENSG00000077009	ENST00000168977	T	0.65916	-0.18	3.51	2.47	0.30058	3.51	2.47	0.30058	.	0.891815	0.09184	U	0.837061	T	0.80465	0.4628	M	0.92507	3.315	0.48975	D	0.999733	D;D	0.89917	1.0;0.97	P;P	0.61132	0.884;0.502	T	0.76908	-0.2785	10	0.87932	D	0	-20.1072	8.4184	0.32685	0.1197:0.0:0.8803:0.0	.	139;134	B7ZKR3;Q9NPI5	.;NRK2_HUMAN	H	134	ENSP00000168977:R134H	ENSP00000168977:R134H	R	+	2	0	0	ITGB1BP3	3892074	3892074	0.999000	0.42202	0.008000	0.14137	0.001000	0.01503	8.047000	0.89440	0.691000	0.31592	-0.218000	0.12543	CGC		0.577	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1		-7.654894	1	1	101	101	NM_014446, NM_170678		4	8.408052	8.408052	72	0.052632	0	0	0	1	0	4	72	0.052632	A	3941074	G	A	3941074	3	1	38	1	0	0	0	0	1	0	0	0	7893	1087	38	1	423	1	ITGB1BP3	19	3941074	Missense_Mutation	SNP	G	TCGA-VD-A8K8-01A-11D-A39W-08	822132	3941074	55187909	18	692											
MUC16	94025	broad.mit.edu	37	19	9018559	9018559	+	Missense_Mutation	SNP	C	C	A	rs569488503		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:9018559C>A	ENST00000397910.4	-	24	37818	c.37615G>T	c.(37615-37617)Gct>Tct	p.A12539S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12541	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGGCCAGCAGCTGTAGTG	0.428																																						ENST00000397910.4											0			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(37615-37617)Gct>Tct	mucin 16, cell surface associated						195	167	176					19																	9018559		1923	4138	6061	SO:0001583	missense	94025			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9018559C>A	AF414442	AF414442	CCDS54212.1	CCDS54212.1	19p13.2	2008-02-05	2006-03-14		2008-02-05	2006-03-14			ENSG00000181143		ENSG00000181143		"Mucins"	"Mucins"	15582	15582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606154	606154						11369781	11369781	Standard	Standard	XM_006722941	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	uc002mkp.3	Q8WXI7	Q8WXI7			ENST00000397910.4:c.37615G>T	19.37:g.9018559C>A	ENSP00000381008:p.Ala12539Ser			p.A12539S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			24	37818	-			12541	SEA 4.	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37615G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.353	0.623202	0.14193	.	.	ENSG00000181143	ENST00000397910	T	0.33438	1.41	2.01	-0.421	0.12332	2.01	-0.421	0.12332	.	.	.	.	.	T	0.19765	0.0475	L	0.50333	1.59	.	.	.	P	0.35481	0.504	B	0.24394	0.053	T	0.20306	-1.0279	8	0.87932	D	0	.	3.0904	0.06291	0.0:0.4941:0.3105:0.1954	.	12539	B5ME49	.	S	12539	ENSP00000381008:A12539S	ENSP00000381008:A12539S	A	-	1	0	0	MUC16	8879559	8879559	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	-4.880000	0.00174	-0.025000	0.13918	0.195000	0.17529	GCT		0.428	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		-12.180623	-26	-26	129	129	NM_024690		4	7.808796	7.808796	86	0.044444	1	0	0.014758	1	0.0161635	4	86	0.044444	A	9018559	C	A	9018559	3	1	38	1	0	0	0	0	1	0	0	0	9973	710	25	5	6152	5	MUC16	19	9018559	Missense_Mutation	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08	5077485	9018559	50110424	19	693											
UPK1A	11045	broad.mit.edu	37	19	36164371	36164371	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:36164371A>T	ENST00000222275.2	+	4	392	c.392A>T	c.(391-393)cAg>cTg	p.Q131L	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.Q131L	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	131					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCACCAAGCAGATGCTGACC	0.662																																						ENST00000222275.2											0			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(391-393)cAg>cTg	uroplakin 1A						51	48	49					19																	36164371		2203	4300	6503	SO:0001583	missense	11045			epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36164371A>T	AF085807	AF085807	CCDS12470.1, CCDS62640.1	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			2013-02-14			ENSG00000105668	ENSG00000105668	ENSG00000105668	ENSG00000105668		"Tetraspanins"	"Tetraspanins"	12577	12577	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611557	611557						9846985, 10404304	9846985, 10404304	Standard	Standard	NM_007000	NM_007000		Approved	TSPAN21	uc002oaw.3	uc002oaw.3	O00322	O00322	OTTHUMG00000048115	OTTHUMG00000048115	ENST00000222275.2:c.392A>T	19.37:g.36164371A>T	ENSP00000222275:p.Gln131Leu		UPK1A_ENST00000379013.2_Missense_Mutation_p.Q131L	p.Q131L	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	392	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		131		Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.392A>T	CCDS12470.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828828	0.90955	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	D;D	0.86865	-2.18;-2.18	5.54	5.54	0.83059	5.54	5.54	0.83059	Tetraspanin, EC2 domain (1);	0.000000	0.64402	D	0.000001	D	0.90466	0.7014	M	0.65498	2.005	0.51012	D	0.999909	D;P	0.60575	0.988;0.951	P;P	0.56216	0.794;0.708	D	0.91301	0.5067	10	0.66056	D	0.02	0.466	13.6153	0.62103	1.0:0.0:0.0:0.0	.	131;131	O00322-2;O00322	.;UPK1A_HUMAN	L	131	ENSP00000222275:Q131L;ENSP00000368298:Q131L	ENSP00000222275:Q131L	Q	+	2	0	0	UPK1A	40856211	40856211	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.345000	0.72995	2.103000	0.63969	0.533000	0.62120	CAG		0.662	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3		42.037790	0	0	51	51			14	42.94831	42.94831	27	0.341463	0	0	0	1	0	14	27	0.341463	T	36164371	A	T	36164371	3	4	38	1	0	0	0	0	1	0	0	0	17004	188	7	5	406	5	UPK1A	19	36164371	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08	27145812	36164371	22964612	20	694											
SGSM1	129049	broad.mit.edu	37	22	25246302	25246302	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr22:25246302A>T	ENST00000400359.4	+	5	365	c.358A>T	c.(358-360)Aac>Tac	p.N120Y	SGSM1_ENST00000400358.4_Missense_Mutation_p.N120Y	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	120	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GAAGCTGCCCAACTTGTCCCC	0.483											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400358.4											0			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(358-360)Aac>Tac	small G protein signaling modulator 1						70	70	70					22																	25246302		1975	4157	6132	SO:0001583	missense	129049				Golgi apparatus	Rab GTPase activator activity	g.chr22:25246302A>T	AB075821	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	"Small G protein signaling modulators"	29410	29410	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611417	611417	"RUN and TBC1 domain containing 2"	RUTBC2	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	11853319, 17509819, 22637480	Standard	Standard	NM_133454	NM_133454		Approved	KIAA1941	uc003abg.2	uc003abg.2	Q2NKQ1	Q2NKQ1	OTTHUMG00000150837	OTTHUMG00000150837	ENST00000400359.4:c.358A>T	22.37:g.25246302A>T	ENSP00000383212:p.Asn120Tyr	777	SGSM1_ENST00000400359.4_Missense_Mutation_p.N120Y	p.N120Y	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			5	415	+			120	RUN.	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.358A>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238923	0.58995	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.07800	3.16;3.16	4.83	4.83	0.62350	4.83	4.83	0.62350	RUN (2);	0.364205	0.37053	N	0.002268	T	0.17831	0.0428	M	0.63428	1.95	0.48762	D	0.999703	B;B;P;P;D	0.54047	0.226;0.268;0.955;0.484;0.964	B;P;P;P;P	0.54590	0.202;0.459;0.642;0.452;0.756	T	0.06356	-1.0831	10	0.17832	T	0.49	0.9439	13.905	0.63828	1.0:0.0:0.0:0.0	.	120;95;95;120;95	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	Y	95;120;120	ENSP00000383211:N120Y;ENSP00000383212:N120Y	ENSP00000383211:N120Y	N	+	1	0	0	SGSM1	23576302	23576302	1.000000	0.71417	0.995000	0.50966	0.245000	0.25701	7.253000	0.78320	1.949000	0.56562	0.477000	0.44152	AAC		0.483	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1		17.947618	0	0	20	20	XM_059318		6	18.009947	18.009947	8	0.428571	0	0	0	1	0	6	8	0.428571	T	25246302	A	T	25246302	3	4	38	1	0	0	0	0	1	0	0	0	14222	130	5	5	376	5	SGSM1	22	25246302	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		25246302	26058264	21	695											
VPS13D	55187	broad.mit.edu	37	1	12328815	12328815	+	Silent	SNP	G	G	A			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr1:12328815G>A	ENST00000358136.3	+	16	1984	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	VPS13D_ENST00000356315.4_Silent_p.A618A	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)		GAAATCCGGCGCACAGCCACT	0.453																																						ENST00000358136.3											0			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						c.(1852-1854)gcG>gcA	vacuolar protein sorting 13 homolog D (S. cerevisiae)						151	161	158					1																	12328815		2203	4300	6503	SO:0001819	synonymous_variant	55187			protein localization			g.chr1:12328815G>A	AJ608774	AJ608774	CCDS30588.1, CCDS30589.1	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707	ENSG00000048707	ENSG00000048707				23595	23595	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608877	608877	"vacuolar protein sorting 13D (yeast)"		"vacuolar protein sorting 13D (yeast)"					Standard	Standard	NM_015378	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	uc001atv.3	Q5THJ4	Q5THJ4	OTTHUMG00000013155	OTTHUMG00000013155	ENST00000358136.3:c.1854G>A	1.37:g.12328815G>A			VPS13D_ENST00000356315.4_Silent_p.A618A	p.A618A	NM_015378.2	NP_056193.2	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)	16	1984	+	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)	618			Silent	SNP	ENST00000358136.3	37	c.1854G>A	CCDS30588.1																																																																																									0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		-31.639576	-1	-1	215	215	NM_015378		4	6.666791	6.666791	150	0.025974	0	0	0	1	0	4	150	0.025974	A	12328815	G	A	12328815	2	1	39	1	0	0	0	0	0	0	0	1	17189	1074	38	1		1	VPS13D	1	12328815	Silent	SNP	G	TCGA-VD-A8K9-01A-11D-A39W-08		12328815	236921806	1	696											
LCE4A	199834	broad.mit.edu	37	1	152681848	152681848	+	Silent	SNP	C	C	T			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr1:152681848C>T	ENST00000368777.1	+	2	553	c.297C>T	c.(295-297)tgC>tgT	p.C99C	LCE4A_ENST00000335535.3_Silent_p.C99C			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	99	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			GGGGCTGTTGCTGACCTGGAC	0.567																																						ENST00000368777.1											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(295-297)tgC>tgT	late cornified envelope 4A						22	25	24					1																	152681848		2201	4298	6499	SO:0001819	synonymous_variant	199834			keratinization			g.chr1:152681848C>T	BI670517	BI670517	CCDS1022.1	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170	ENSG00000187170	ENSG00000187170		"Late cornified envelopes"	"Late cornified envelopes"	16613	16613	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612618	612618	"small proline rich-like (epidermal differentiation complex) 4A"	SPRL4A	"small proline rich-like (epidermal differentiation complex) 4A"	SPRL4A		11698679	11698679	Standard	Standard	NM_178356	NM_178356		Approved	LEP8	uc001fak.2	uc001fak.2	Q5TA78	Q5TA78	OTTHUMG00000014394	OTTHUMG00000014394	ENST00000368777.1:c.297C>T	1.37:g.152681848C>T			LCE4A_ENST00000335535.3_Silent_p.C99C	p.C99C			Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		2	553	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		99	Cys-rich.	Q14D97	Silent	SNP	ENST00000368777.1	37	c.297C>T	CCDS1022.1																																																																																									0.567	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1		69.783520	-1	-1	37	37	NM_178356		21	70.323531	70.323531	12	0.636364	0	0	0	1	0	21	12	0.636364	T	152681848	C	T	152681848	2	4	39	1	0	0	0	0	0	0	0	1	8674	805	28	2		2	LCE4A	1	152681848	Silent	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08	140353033	152681848	96568773	2	697											
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(5)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)Cgt>Tgt	splicing factor 3b, subunit 1, 155kDa						93	90	91					2																	198267484		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys			p.R625C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1964	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	0	SF3B1	197975729	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		58.251050	1	1	55	55			18	58.25105	58.25105	18	0.5	0	0	0	1	0	18	18	0.5	A	198267484	G	A	198267484	3	1	39	1	0	0	0	0	1	0	0	0	14149	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-VD-A8K9-01A-11D-A39W-08		198267484	44931889	3	698											
SEC24B	10427	broad.mit.edu	37	4	110447472	110447472	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr4:110447472C>T	ENST00000265175.5	+	17	2937	c.2882C>T	c.(2881-2883)gCg>gTg	p.A961V	SEC24B_ENST00000504968.2_Missense_Mutation_p.A991V|SEC24B_ENST00000399100.2_Missense_Mutation_p.A926V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	961					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCTGGATTTGCGGTGCAGTTG	0.363																																						ENST00000265175.5											0			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2881-2883)gCg>gTg	SEC24 family member B						174	158	163					4																	110447472		1862	4089	5951	SO:0001583	missense	10427			COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110447472C>T	AJ131245	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802	ENSG00000138802	ENSG00000138802				10704	10704	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607184	607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"		"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	10075675, 10329445	Standard	Standard	XM_005262688	XM_005262688		Approved		uc003hzk.3	uc003hzk.3	O95487	O95487	OTTHUMG00000161372	OTTHUMG00000161372	ENST00000265175.5:c.2882C>T	4.37:g.110447472C>T	ENSP00000265175:p.Ala961Val		SEC24B_ENST00000399100.2_Missense_Mutation_p.A926V|SEC24B_ENST00000504968.2_Missense_Mutation_p.A991V	p.A961V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	17	2937	+		Hepatocellular(203;0.217)	961		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2882C>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421208	0.96111	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.77098	-1.07;-1.07;-1.07	5.3	5.3	0.74995	5.3	5.3	0.74995	Sec23/Sec24 beta-sandwich (1);	0.049795	0.85682	D	0.000000	D	0.84397	0.5463	L	0.46567	1.45	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.66716	0.946;0.942;0.946;0.911;0.946	T	0.82989	-0.0183	10	0.39692	T	0.17	-20.8388	19.3486	0.94374	0.0:1.0:0.0:0.0	.	875;560;991;926;961	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	991;926;961	ENSP00000428564:A991V;ENSP00000382051:A926V;ENSP00000265175:A961V	ENSP00000265175:A961V	A	+	2	0	0	SEC24B	110666921	110666921	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.818000	0.86416	2.644000	0.89710	0.655000	0.94253	GCG		0.363	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		-6.176324	-10	-10	116	116			3	6.387115	6.387115	56	0.050847	0	0	0	1	0	3	56	0.050847	T	110447472	C	T	110447472	3	4	39	1	0	0	0	0	1	0	0	0	13995	768	27	1	2948	1	SEC24B	4	110447472	Missense_Mutation	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		110447472	80706804	4	699											
ARID1B	57492	broad.mit.edu	37	6	157222625	157222625	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr6:157222625C>A	ENST00000350026.5	+	3	1854	c.1853C>A	c.(1852-1854)cCg>cAg	p.P618Q	ARID1B_ENST00000346085.5_Missense_Mutation_p.P631Q|ARID1B_ENST00000275248.4_Missense_Mutation_p.P560Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.P618Q	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	618	Gln-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGTATCTGCCGTCCCAGTCC	0.642																																						ENST00000346085.5											0			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1891-1893)cCg>cAg	AT rich interactive domain 1B (SWI1-like)						31	31	31					6																	157222625		2203	4300	6503	SO:0001583	missense	57492			chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157222625C>A	AF521671	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			2014-09-17			ENSG00000049618	ENSG00000049618	ENSG00000049618	ENSG00000049618		"-"	"-"	18040	18040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614556	614556								Standard	Standard	NM_017519	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	uc003qqo.3	Q8NFD5	Q8NFD5	OTTHUMG00000015890	OTTHUMG00000015890	ENST00000350026.5:c.1853C>A	6.37:g.157222625C>A	ENSP00000055163:p.Pro618Gln		ARID1B_ENST00000275248.4_Missense_Mutation_p.P560Q|ARID1B_ENST00000350026.5_Missense_Mutation_p.P618Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.P618Q	p.P631Q	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	4	1893	+		Breast(66;0.000162)|Ovarian(120;0.0265)	618	Gln-rich.	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.1892C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154173	0.38021	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.17213	4.63;4.5;4.63;4.59;4.27;2.29	5.71	4.81	0.61882	5.71	4.81	0.61882	.	0.197343	0.30762	N	0.008934	T	0.02230	0.0069	N	0.02539	-0.55	0.22811	N	0.9987	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.41233	-0.9520	10	0.30854	T	0.27	.	11.6579	0.51328	0.184:0.816:0.0:0.0	.	618;631;560	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	Q	631;618;618;560;39;117;40	ENSP00000344546:P631Q;ENSP00000055163:P618Q;ENSP00000356116:P618Q;ENSP00000275248:P560Q;ENSP00000412835:P117Q;ENSP00000313006:P40Q	ENSP00000275248:P560Q	P	+	2	0	0	ARID1B	157264317	157264317	0.303000	0.24463	0.576000	0.28549	0.990000	0.78478	1.365000	0.34182	1.354000	0.45846	0.655000	0.94253	CCG		0.642	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		30.418793	1	1	25	25	NM_020732		8	30.414888	30.414888	0	1	1	0	0.000274275	1	0.000274275	8	0	1	A	157222625	C	A	157222625	3	1	39	1	0	0	0	0	1	0	0	0	914	652	23	5	1906	5	ARID1B	6	157222625	Missense_Mutation	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		157222625	13892442	5	700											
LRRN3	54674	broad.mit.edu	37	7	110763686	110763686	+	Silent	SNP	A	A	G			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr7:110763686A>G	ENST00000422987.3	+	2	1689	c.858A>G	c.(856-858)ttA>ttG	p.L286L	IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L286L|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Silent_p.L286L|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	286					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TGCTACACTTAAAAGAGTTGG	0.328																																						ENST00000451085.1											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(856-858)ttA>ttG	leucine rich repeat neuronal 3						58	62	60					7																	110763686		2203	4300	6503	SO:0001819	synonymous_variant	54674				integral to membrane		g.chr7:110763686A>G	AB060967	AB060967	CCDS5754.1	CCDS5754.1	7q31.1	2013-02-11			2013-02-11			ENSG00000173114	ENSG00000173114	ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	17200	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"								11549284	11549284	Standard	Standard	NM_001099660	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	uc003vfs.4	Q9H3W5	Q9H3W5	OTTHUMG00000155039	OTTHUMG00000155039	ENST00000422987.3:c.858A>G	7.37:g.110763686A>G			IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L286L|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Silent_p.L286L|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron	p.L286L	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1904	+			286		O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.858A>G	CCDS5754.1																																																																																									0.328	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2		73.747393	-3	-3	62	62	NM_018334		22	73.819709	73.819709	26	0.458333	0	0	0	1	0	22	26	0.458333	G	110763686	A	G	110763686	2	3	39	1	0	0	0	0	0	0	0	1	9036	359	13	4		4	LRRN3	7	110763686	Silent	SNP	A	TCGA-VD-A8K9-01A-11D-A39W-08		110763686	48374977	6	701											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		97.542393	-22	-22	90	90	NM_002072		30	97.853137	97.853137	40	0.428571	0	0	0	1	0	30	40	0.428571	G	80409488	T	G	80409488	3	3	39	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8K9-01A-11D-A39W-08		80409488	60803943	7	702											
ZDHHC6	64429	broad.mit.edu	37	10	114192275	114192275	+	Missense_Mutation	SNP	C	C	T	rs377021418		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr10:114192275C>T	ENST00000369405.3	-	9	1373	c.950G>A	c.(949-951)cGc>cAc	p.R317H	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R313H	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	317					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TACTTTATAGCGAACCTGTCG	0.378																																						ENST00000369405.3											0			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(949-951)cGc>cAc	zinc finger, DHHC-type containing 6	C	HIS/ARG	0,4406		0,0,2203	83	80	81		950	2	1	10		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZDHHC6	NM_022494.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	317/414	114192275	1,13005	2203	4300	6503	SO:0001583	missense	64429				integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114192275C>T	AK025605	AK025605	CCDS7574.1	CCDS7574.1	10q26.11	2008-05-02			2008-05-02			ENSG00000023041	ENSG00000023041	ENSG00000023041	ENSG00000023041		"Zinc fingers, DHHC-type"	"Zinc fingers, DHHC-type"	19160	19160	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_022494	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	uc001kzv.3	Q9H6R6	Q9H6R6	OTTHUMG00000019062	OTTHUMG00000019062	ENST00000369405.3:c.950G>A	10.37:g.114192275C>T	ENSP00000358413:p.Arg317His		ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R313H	p.R317H	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	9	1373	-		Colorectal(252;0.198)	317		D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.950G>A	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399861	0.42512	0.0	1.16E-4	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.08634	3.07;3.07	5.87	2.0	0.26442	5.87	2.0	0.26442	Src homology-3 domain (1);Variant SH3 (1);	0.053590	0.85682	D	0.000000	T	0.10208	0.0250	M	0.62723	1.935	0.41894	D	0.990388	B;B	0.18013	0.025;0.018	B;B	0.12837	0.007;0.008	T	0.08166	-1.0735	10	0.45353	T	0.12	-0.9313	10.9445	0.47294	0.0:0.7482:0.0:0.2518	.	313;317	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	H	317;313	ENSP00000358413:R317H;ENSP00000358412:R313H	ENSP00000358412:R313H	R	-	2	0	0	ZDHHC6	114182265	114182265	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	2.915000	0.48805	0.186000	0.20125	0.655000	0.94253	CGC		0.378	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1		-6.323927	1	1	89	89	NM_022494		3	6.561881	6.561881	57	0.05	0	0	0	1	0	3	57	0.05	T	114192275	C	T	114192275	3	4	39	1	0	0	0	0	1	0	0	0	17616	768	27	1	303	1	ZDHHC6	10	114192275	Missense_Mutation	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		114192275	21342472	8	703											
PPP2R1B	5519	broad.mit.edu	37	11	111636064	111636064	+	Silent	SNP	T	T	C			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr11:111636064T>C	ENST00000527614.1	-	2	224	c.159A>G	c.(157-159)gcA>gcG	p.A53A	PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000311129.5_Silent_p.A53A|PPP2R1B_ENST00000393055.2_Silent_p.A53A|PPP2R1B_ENST00000341980.6_Silent_p.A53A	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	53					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTACTCCAAGTGCTAGGGCAA	0.373																																						ENST00000527614.1											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(157-159)gcA>gcG	protein phosphatase 2, regulatory subunit A, beta						122	122	122					11																	111636064		2201	4297	6498	SO:0001819	synonymous_variant	5519					protein binding	g.chr11:111636064T>C	AF087438	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	9303	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"		"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	2159327, 9795170	Standard	Standard	NM_181699	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	uc001plw.1	P30154	P30154	OTTHUMG00000166741	OTTHUMG00000166741	ENST00000527614.1:c.159A>G	11.37:g.111636064T>C			PPP2R1B_ENST00000341980.6_Silent_p.A53A|PPP2R1B_ENST00000393055.2_Silent_p.A53A|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000311129.5_Silent_p.A53A	p.A53A	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	2	224	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	53		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	ENST00000527614.1	37	c.159A>G	CCDS8349.1																																																																																									0.373	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1		162.795980	-8	-8	154	154	NM_002716		52	162.798076	162.798076	53	0.495238	0	0	0	1	0	52	53	0.495238	C	111636064	T	C	111636064	2	2	39	1	0	0	0	0	0	0	0	1	12383	1683	59	4		4	PPP2R1B	11	111636064	Silent	SNP	T	TCGA-VD-A8K9-01A-11D-A39W-08		111636064	23370452	9	704											
FMNL3	91010	broad.mit.edu	37	12	50045720	50045720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr12:50045720delT	ENST00000293590.5	-	14	1832	c.1599delA	c.(1597-1599)ttafs	p.L533fs	FMNL3_ENST00000550488.1_Frame_Shift_Del_p.L533fs|FMNL3_ENST00000335154.5_Frame_Shift_Del_p.L533fs|FMNL3_ENST00000352151.5_Frame_Shift_Del_p.L482fs			Q8IVF7	FMNL3_HUMAN	formin-like 3	533	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GGTTACCTGGTAATGGGGGAG	0.632																																						ENST00000335154.5											0			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1597-1599)ttafs	formin-like 3						11	14	13					12																	50045720		1909	4106	6015	SO:0001589	frameshift_variant	91010			actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50045720delT	AK128195	AK128195	CCDS41780.1, CCDS44874.1	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10			2006-04-10										23698	23698	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12684686	12684686	Standard	Standard	NM_198900	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	uc001ruv.1	Q8IVF7	Q8IVF7	OTTHUMG00000169651	OTTHUMG00000169651	ENST00000293590.5:c.1599delA	12.37:g.50045720delT	ENSP00000293590:p.Leu533fs		FMNL3_ENST00000550488.1_Frame_Shift_Del_p.L533fs|FMNL3_ENST00000293590.5_Frame_Shift_Del_p.L533fs|FMNL3_ENST00000352151.5_Frame_Shift_Del_p.L482fs	p.L533fs	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			14	1832	-			533	Pro-rich.	B0JZA7|Q6ZRJ1	Frame_Shift_Del	DEL	ENST00000293590.5	37	c.1599delA																																																																																										0.632	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		.	.	-3	-3	6	6	NM_175736		2			4	0.33						2	4	0.33	-	50045720	T	-	50045720	7	5	39	1	0	1	0	1	0	0	0	0	5953	1635	57	0	1536	0	FMNL3	12	50045720	Frame_Shift_Del	DEL	T	TCGA-VD-A8K9-01A-11D-A39W-08		50045720	83806175	10	705											
CYP1A1	1543	broad.mit.edu	37	15	75015195	75015195	+	Missense_Mutation	SNP	G	G	T	rs537005466		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr15:75015195G>T	ENST00000379727.3	-	2	442	c.244C>A	c.(244-246)Ccc>Acc	p.P82T	CYP1A1_ENST00000567032.1_Missense_Mutation_p.P82T|CYP1A1_ENST00000395048.2_Missense_Mutation_p.P82T|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395049.4_Missense_Mutation_p.P82T			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	82					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	ACCACCACGGGTGTGGAGCCA	0.627									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3											0			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(244-246)Ccc>Acc	cytochrome P450, family 1, subfamily A, polypeptide 1						57	49	52					15																	75015195		2197	4296	6493	SO:0001583	missense	1543	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75015195G>T	BC023019	BC023019	CCDS10268.1	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	"Cytochrome P450s"	2595	2595	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			108330	108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	15128046	Standard	Standard	NM_000499	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	uc002ayp.4	P04798	P04798	OTTHUMG00000142812	OTTHUMG00000142812	ENST00000379727.3:c.244C>A	15.37:g.75015195G>T	ENSP00000369050:p.Pro82Thr		CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Missense_Mutation_p.P82T|CYP1A1_ENST00000395049.4_Missense_Mutation_p.P82T|CYP1A1_ENST00000567032.1_Missense_Mutation_p.P82T	p.P82T			P04798	CP1A1_HUMAN			2	442	-			82		A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.244C>A	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712417	0.48517	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.80994	-1.44;-1.44;-1.44	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.90140	0.6919	M	0.86268	2.805	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91531	0.5242	10	0.87932	D	0	.	14.1323	0.65263	0.0747:0.0:0.9253:0.0	.	82;82	E7EMT5;P04798	.;CP1A1_HUMAN	T	82	ENSP00000369050:P82T;ENSP00000378488:P82T;ENSP00000378489:P82T	ENSP00000268062:P82T	P	-	1	0	0	CYP1A1	72802248	72802248	1.000000	0.71417	0.077000	0.20336	0.301000	0.27625	6.592000	0.74095	2.432000	0.82394	0.462000	0.41574	CCC		0.627	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1		51.976513	12	12	52	52	NM_000499		17	52.164169	52.164169	12	0.586207	1	0	1.5739e-10	1	1.73957e-10	17	12	0.586207	T	75015195	G	T	75015195	3	4	39	1	0	0	0	0	1	0	0	0	4149	1261	44	5	1318	5	CYP1A1	15	75015195	Missense_Mutation	SNP	G	TCGA-VD-A8K9-01A-11D-A39W-08		75015195	27516197	11	706											
AKAP13	11214	hgsc.bcm.edu	37	15	86125034	86125034	+	Silent	SNP	A	A	G			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr15:86125034A>G	ENST00000394518.2	+	7	3830	c.3735A>G	c.(3733-3735)gcA>gcG	p.A1245A	AKAP13_ENST00000361243.2_Silent_p.A1245A|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1245					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTAAGGGGGCAGACTTGATAG	0.592																																					Melanoma(94;603 1453 3280 32295 32951)												0																	43	42	42					15																	86125034		2202	4299	6501	SO:0001819	synonymous_variant	11214							M90360	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13		2013-01-10	2002-06-13			ENSG00000170776		ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	371	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604686	604686	"lymphoid blast crisis oncogene"	LBC	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	9627117, 1860836	Standard	Standard	NM_007200	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	uc002blu.2	Q12802	Q12802			ENST00000394518.2:c.3735A>G	15.37:g.86125034A>G																		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37		CCDS32319.1																																																																																									0.592	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1			14	14	45	45	NM_007200		9			26							9	26		G	86125034	A	G	86125034	2	3	39	1	0	0	0	0	0	0	0	1	449	175	7	4		4	AKAP13	15	86125034	Silent	SNP	A	TCGA-VD-A8K9-01A-11D-A39W-08	11109839	86125034	16406358	12	707											
WDR90	197335	broad.mit.edu	37	16	708649	708649	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr16:708649C>G	ENST00000293879.4	+	23	2891	c.2891C>G	c.(2890-2892)cCc>cGc	p.P964R	WDR90_ENST00000549091.1_Missense_Mutation_p.P964R|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	964										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				AGCCCAGGCCCCCAGGTGTGT	0.692																																						ENST00000549091.1											0			endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(2890-2892)cCc>cGc	WD repeat domain 90						20	24	23					16																	708649		2010	4142	6152	SO:0001583	missense	197335						g.chr16:708649C>G	AB067511	AB067511	CCDS42092.1	CCDS42092.1	16p13.3	2013-01-09			2013-01-09			ENSG00000161996	ENSG00000161996	ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	"WD repeat domain containing"	26960	26960	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18	"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	11572484, 11157797	Standard	Standard	XM_005255160	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	uc002cii.1	Q96KV7	Q96KV7	OTTHUMG00000048040	OTTHUMG00000048040	ENST00000293879.4:c.2891C>G	16.37:g.708649C>G	ENSP00000293879:p.Pro964Arg		WDR90_ENST00000293879.4_Missense_Mutation_p.P964R	p.P964R	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			23	2983	+		Hepatocellular(780;0.0218)	964		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2891C>G	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	7.176	0.588597	0.13812	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.48836	0.8;3.52	5.24	1.95	0.26073	5.24	1.95	0.26073	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.427951	0.23220	U	0.050579	T	0.24812	0.0602	N	0.12663	0.25	0.80722	D	1	P;P	0.48503	0.911;0.91	P;P	0.44897	0.461;0.463	T	0.05289	-1.0894	10	0.25106	T	0.35	.	1.9304	0.03326	0.117:0.1596:0.4683:0.2551	.	964;964	F8VUX9;Q96KV7	.;WDR90_HUMAN	R	964	ENSP00000448122:P964R;ENSP00000293879:P964R	ENSP00000293879:P964R	P	+	2	0	0	WDR90	648650	648650	0.989000	0.36119	0.714000	0.30535	0.417000	0.31264	1.683000	0.37638	0.602000	0.29896	0.655000	0.94253	CCC		0.692	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1		26.669676	-1	-1	32	32	NM_145294		9	26.907726	26.907726	14	0.391304	0	0	0	1	0	9	14	0.391304	G	708649	C	G	708649	3	3	39	1	0	0	0	0	1	0	0	0	17334	623	22	5	2981	5	WDR90	16	708649	Missense_Mutation	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		708649	89646104	13	708											
SLC6A4	6532	broad.mit.edu	37	17	28525481	28525481	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr17:28525481G>A	ENST00000401766.2	-	14	2398	c.1886C>T	c.(1885-1887)gCt>gTt	p.A629V	SLC6A4_ENST00000261707.3_Missense_Mutation_p.A629V			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	629	Required for serotonin uptake activity.				brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GTGTTACACAGCATTCAAGCG	0.443																																						ENST00000401766.2											0			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(1885-1887)gCt>gTt	solute carrier family 6 (neurotransmitter transporter), member 4						136	124	128					17																	28525481		2203	4300	6503	SO:0001583	missense	6532			response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28525481G>A	L05568	L05568	CCDS11256.1	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576	ENSG00000108576	ENSG00000108576		"Solute carriers"	"Solute carriers"	11050	11050	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"serotonin transporter 1"	"serotonin transporter 1"	182138	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	7681602, 19806148	Standard	Standard	NM_001045	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	uc002hey.5	P31645	P31645	OTTHUMG00000132751	OTTHUMG00000132751	ENST00000401766.2:c.1886C>T	17.37:g.28525481G>A	ENSP00000385822:p.Ala629Val		SLC6A4_ENST00000261707.3_Missense_Mutation_p.A629V	p.A629V			P31645	SC6A4_HUMAN			14	2398	-			629	Required for serotonin uptake activity.	Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.1886C>T	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244033	0.58995	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.75938	-0.98;-0.98	6.06	4.01	0.46588	6.06	4.01	0.46588	.	0.322504	0.34700	N	0.003760	T	0.54615	0.1869	N	0.08118	0	0.35298	D	0.782778	B	0.06786	0.001	B	0.06405	0.002	T	0.58205	-0.7677	10	0.66056	D	0.02	.	11.1053	0.48199	0.1549:0.0:0.8451:0.0	.	629	P31645	SC6A4_HUMAN	V	671;629;629	ENSP00000385822:A629V;ENSP00000261707:A629V	ENSP00000261707:A629V	A	-	2	0	0	SLC6A4	25549607	25549607	0.997000	0.39634	0.970000	0.41538	0.849000	0.48306	2.297000	0.43593	0.820000	0.34516	-0.345000	0.07892	GCT		0.443	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3		-6.307910	-9	-9	70	70	NM_001045		3	6.562306	6.562306	57	0.05	0	0	0	1	0	3	57	0.05	A	28525481	G	A	28525481	3	1	39	1	0	0	0	0	1	0	0	0	14686	971	34	2	10	2	SLC6A4	17	28525481	Missense_Mutation	SNP	G	TCGA-VD-A8K9-01A-11D-A39W-08		28525481	52669729	14	709											
WTIP	126374	broad.mit.edu	37	19	34991049	34991049	+	Silent	SNP	C	C	T	rs370782319		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	g.chr19:34991049C>T	ENST00000590071.2	+	8	1505	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	WTIP_ENST00000270288.6_Silent_p.L614L	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	390	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGGCTGCAGCTGAGCGGGGA	0.682																																						ENST00000590071.2											0			NS(1)|large_intestine(2)|lung(1)	4						c.(1168-1170)Ctg>Ttg	Wilms tumor 1 interacting protein	C		0,4288		0,0,2144	30	37	35		1168	4.5	1	19		35	1,8491		0,1,4245	no	coding-synonymous	WTIP	NM_001080436.1		0,1,6389	TT,TC,CC		0.0118,0.0,0.0078		390/431	34991049	1,12779	2144	4246	6390	SO:0001819	synonymous_variant	126374						g.chr19:34991049C>T	AK130059	AK130059	CCDS59375.1	CCDS59375.1	19q13.11	2012-03-16			2012-03-16			ENSG00000142279	ENSG00000142279	ENSG00000142279	ENSG00000142279				20964	20964	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"WT1-interacting protein"	"WT1-interacting protein"	614790	614790						14736876	14736876	Standard	Standard	NM_001080436	NM_001080436		Approved		uc002nvm.3	uc002nvm.3	A6NIX2	A6NIX2			ENST00000590071.2:c.1168C>T	19.37:g.34991049C>T			WTIP_ENST00000270288.6_Silent_p.L614L	p.L390L	NM_001080436.1	NP_001073905.1			LUSC - Lung squamous cell carcinoma(66;0.211)		8	1505	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)					Silent	SNP	ENST00000590071.2	37	c.1168C>T	CCDS59375.1																																																																																									0.682	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3		13.567065	-5	-5	33	33	XM_059037		5	14.36695	14.36695	13	0.277778	0	0	0	1	0	5	13	0.277778	T	34991049	C	T	34991049	2	4	39	1	0	0	0	0	0	0	0	1	17407	796	28	2		2	WTIP	19	34991049	Silent	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		34991049	24137934	15	710											
GPATCH3	63906	broad.mit.edu	37	1	27223862	27223862	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr1:27223862G>T	ENST00000361720.5	-	2	829	c.806C>A	c.(805-807)cCa>cAa	p.P269Q		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	269	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGCTGGCTGGTATATCTGC	0.517																																						ENST00000361720.5											0			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(805-807)cCa>cAa	G patch domain containing 3						180	181	181					1																	27223862		2203	4300	6503	SO:0001583	missense	63906				intracellular	nucleic acid binding	g.chr1:27223862G>T	BC007767	BC007767	CCDS290.1	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746	ENSG00000198746	ENSG00000198746		"G patch domain containing"	"G patch domain containing"	25720	25720	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						GPATC3		GPATC3				Standard	Standard	NM_022078	NM_022078		Approved	FLJ12455	uc001bne.3	uc001bne.3	Q96I76	Q96I76	OTTHUMG00000004229	OTTHUMG00000004229	ENST00000361720.5:c.806C>A	1.37:g.27223862G>T	ENSP00000354645:p.Pro269Gln			p.P269Q	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	2	829	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	269	Glu-rich.	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.806C>A	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112556	0.06881	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.42900	0.96	4.65	3.74	0.42951	4.65	3.74	0.42951	.	0.345073	0.30969	N	0.008508	T	0.15782	0.0380	N	0.03115	-0.41	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.10245	-1.0638	10	0.23302	T	0.38	-0.0884	3.3644	0.07198	0.2438:0.0:0.562:0.1942	.	269	Q96I76	GPTC3_HUMAN	Q	269;251;80	ENSP00000354645:P269Q	ENSP00000354645:P269Q	P	-	2	0	0	GPATCH3	27096449	27096449	0.037000	0.19845	0.054000	0.19295	0.085000	0.17905	0.759000	0.26461	1.165000	0.42670	0.655000	0.94253	CCA		0.517	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1		-12.179015	-12	-12	121	121	NM_022078		4	7.808092	7.808092	86	0.044444	1	0	0.150653	1	0.163754	4	86	0.044444	T	27223862	G	T	27223862	3	4	40	1	0	0	0	0	1	0	0	0	6592	1348	47	5	795	5	GPATCH3	1	27223862	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08		27223862	222026759	1	711											
LCE3D	84648	broad.mit.edu	37	1	152552268	152552268	+	Missense_Mutation	SNP	C	C	T	rs201921868		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr1:152552268C>T	ENST00000368787.3	-	2	201	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	49					keratinization (GO:0031424)					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CAGCCGCCCTCGGAGCTAGGG	0.672																																						ENST00000368787.3											0			breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15						c.(145-147)Gag>Aag	late cornified envelope 3D						48	57	54					1																	152552268		2203	4296	6499	SO:0001583	missense	84648			keratinization			g.chr1:152552268C>T	BI670519	BI670519	CCDS1014.1	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202	ENSG00000163202	ENSG00000163202		"Late cornified envelopes"	"Late cornified envelopes"	16615	16615	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612616	612616	"small proline rich-like (epidermal differentiation complex) 6B"	SPRL6B, SPRL6A	"small proline rich-like (epidermal differentiation complex) 6B"	SPRL6B, SPRL6A		11698679	11698679	Standard	Standard	NM_032563	NM_032563		Approved	LEP16	uc001fab.3	uc001fab.3	Q9BYE3	Q9BYE3	OTTHUMG00000012384	OTTHUMG00000012384	ENST00000368787.3:c.145G>A	1.37:g.152552268C>T	ENSP00000357776:p.Glu49Lys			p.E49K	NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)	2	201	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		49		Q3MIL1	Missense_Mutation	SNP	ENST00000368787.3	37	c.145G>A	CCDS1014.1	.	.	.	.	.	.	.	.	.	.	C	9.089	1.001242	0.19121	.	.	ENSG00000163202	ENST00000368787	T	0.03920	3.76	3.6	2.68	0.31781	3.6	2.68	0.31781	.	.	.	.	.	T	0.01765	0.0056	.	.	.	0.09310	N	1	P	0.50710	0.938	B	0.40741	0.339	T	0.46176	-0.9210	8	0.87932	D	0	.	7.1674	0.25698	0.0:0.872:0.0:0.128	.	49	Q9BYE3	LCE3D_HUMAN	K	49	ENSP00000357776:E49K	ENSP00000357776:E49K	E	-	1	0	0	LCE3D	150818892	150818892	0.001000	0.12720	0.111000	0.21465	0.678000	0.39670	0.483000	0.22292	0.850000	0.35239	0.655000	0.94253	GAG		0.672	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034504.1		83.551137	-22	-22	62	62	NM_032563		29	85.211735	85.211735	54	0.349398	0	0	0	1	0	29	54	0.349398	T	152552268	C	T	152552268	3	4	40	1	0	0	0	0	1	0	0	0	8672	893	31	1	137	1	LCE3D	1	152552268	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08	125328406	152552268	96698353	2	712											
SELE	6401	broad.mit.edu	37	1	169698338	169698338	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr1:169698338G>T	ENST00000333360.7	-	7	1218	c.1079C>A	c.(1078-1080)cCa>cAa	p.P360Q	SELE_ENST00000367776.1_Missense_Mutation_p.P360Q|SELE_ENST00000367779.4_Missense_Mutation_p.P360Q|SELE_ENST00000367782.4_Missense_Mutation_p.P360Q|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.P360Q|SELE_ENST00000367780.4_Missense_Mutation_p.P298Q|SELE_ENST00000367775.1_Missense_Mutation_p.P298Q|SELE_ENST00000367774.1_Missense_Mutation_p.P360Q|SELE_ENST00000367777.1_Missense_Mutation_p.P360Q	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	360	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TTCACAAACTGGGATTTGCTG	0.428																																						ENST00000333360.7											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1078-1080)cCa>cAa	selectin E						86	83	84					1																	169698338		2203	4300	6503	SO:0001583	missense	6401			actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698338G>T	M30640	M30640	CCDS1283.1	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908	ENSG00000007908	ENSG00000007908		"CD molecules"	"CD molecules"	10718	10718	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			131210	131210	"endothelial adhesion molecule 1"	ELAM1, ELAM	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	1375831	Standard	Standard	NM_000450	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	uc001ggm.4	P16581	P16581	OTTHUMG00000034851	OTTHUMG00000034851	ENST00000333360.7:c.1079C>A	1.37:g.169698338G>T	ENSP00000331736:p.Pro360Gln		SELE_ENST00000367775.1_Missense_Mutation_p.P298Q|SELE_ENST00000367776.1_Missense_Mutation_p.P360Q|SELE_ENST00000367779.4_Missense_Mutation_p.P360Q|SELE_ENST00000367774.1_Missense_Mutation_p.P360Q|SELE_ENST00000367777.1_Missense_Mutation_p.P360Q|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.P360Q|SELE_ENST00000367780.4_Missense_Mutation_p.P298Q|SELE_ENST00000367782.4_Missense_Mutation_p.P360Q	p.P360Q	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			7	1218	-	all_hematologic(923;0.208)		360	Sushi 3.	A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1079C>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678221	0.47886	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	D;D;D;T;T;D;D;D;T	0.86562	-2.14;-2.14;-2.14;-1.08;-1.08;-2.14;-2.14;-2.14;-1.08	5.13	5.13	0.70059	5.13	5.13	0.70059	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.41294	D	0.000906	D	0.96636	0.8902	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98501	1.0614	10	0.87932	D	0	-13.107	16.1046	0.81212	0.0:0.0:1.0:0.0	.	360	P16581	LYAM2_HUMAN	Q	360;360;298;360;360;360;298;360;360	ENSP00000356755:P360Q;ENSP00000356756:P360Q;ENSP00000356754:P298Q;ENSP00000356753:P360Q;ENSP00000331736:P360Q;ENSP00000356751:P360Q;ENSP00000356749:P298Q;ENSP00000356750:P360Q;ENSP00000356748:P360Q	ENSP00000331736:P360Q	P	-	2	0	0	SELE	167964962	167964962	1.000000	0.71417	0.066000	0.19879	0.006000	0.05464	8.765000	0.91724	2.378000	0.81104	0.650000	0.86243	CCA		0.428	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1		55.510713	-16	-16	52	52	NM_000450		19	56.339646	56.339646	33	0.365385	1	0	1.28384e-07	1	1.52838e-07	19	33	0.365385	T	169698338	G	T	169698338	3	4	40	1	0	0	0	0	1	0	0	0	14013	1348	47	5	781	5	SELE	1	169698338	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	17146070	169698338	79552283	3	713											
EHD3	30845	broad.mit.edu	37	2	31484502	31484502	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr2:31484502C>G	ENST00000322054.5	+	5	1288	c.1003C>G	c.(1003-1005)Ctg>Gtg	p.L335V	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	335					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGTCAACAACCTGGCCGAGAT	0.567																																						ENST00000322054.5											0			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1003-1005)Ctg>Gtg	EH-domain containing 3						144	134	138					2																	31484502		2203	4300	6503	SO:0001583	missense	30845			blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484502C>G	AF181264	AF181264	CCDS1774.1	CCDS1774.1	2p21	2013-01-10			2013-01-10			ENSG00000013016	ENSG00000013016	ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	"EF-hand domain containing"	3244	3244	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605891	605891		PAST3		PAST3		10673336	10673336	Standard	Standard	NM_014600	NM_014600		Approved		uc002rnu.3	uc002rnu.3	Q9NZN3	Q9NZN3	OTTHUMG00000099365	OTTHUMG00000099365	ENST00000322054.5:c.1003C>G	2.37:g.31484502C>G	ENSP00000327116:p.Leu335Val		EHD3_ENST00000541626.1_Intron	p.L335V	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			5	1288	+	Acute lymphoblastic leukemia(172;0.155)		335		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.1003C>G	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956379	0.53293	.	.	ENSG00000013016	ENST00000322054	T	0.21734	1.99	6.04	5.16	0.70880	6.04	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	H	0.94925	3.6	0.80722	D	1	D	0.63046	0.992	P	0.58577	0.841	T	0.58978	-0.7540	10	0.87932	D	0	-21.9698	7.1544	0.25628	0.0:0.722:0.0:0.278	.	335	Q9NZN3	EHD3_HUMAN	V	335	ENSP00000327116:L335V	ENSP00000327116:L335V	L	+	1	2	2	EHD3	31338006	31338006	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	2.600000	0.46240	1.568000	0.49683	0.561000	0.74099	CTG		0.567	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1		339.193050	22	22	125	125	NM_014600		108	339.682481	339.682481	87	0.553846	0	0	0	1	0	108	87	0.553846	G	31484502	C	G	31484502	3	3	40	1	0	0	0	0	1	0	0	0	4979	680	24	5	1021	5	EHD3	2	31484502	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		31484502	211714871	4	714											
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(5)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)Cgt>Tgt	splicing factor 3b, subunit 1, 155kDa						93	90	91					2																	198267484		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys			p.R625C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1964	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	0	SF3B1	197975729	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		91.705124	9	9	63	63			28	91.811864	91.811864	23	0.54902	0	0	0	1	0	28	23	0.54902	A	198267484	G	A	198267484	3	1	40	1	0	0	0	0	1	0	0	0	14149	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	166782982	198267484	44931889	5	715											
CEP63	80254	broad.mit.edu	37	3	134278127	134278127	+	Silent	SNP	C	C	A			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr3:134278127C>A	ENST00000337090.3	+	14	1982	c.1809C>A	c.(1807-1809)atC>atA	p.I603I	CEP63_ENST00000383229.3_Intron|CEP63_ENST00000513612.2_Silent_p.I603I|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Silent_p.I603I			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	603					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCCTCAAATCAGCCCTTGCA	0.453																																						ENST00000337090.3											0			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1807-1809)atC>atA	centrosomal protein 63kDa						174	172	173					3																	134278127		2203	4300	6503	SO:0001819	synonymous_variant	80254			cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278127C>A	AK056465	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			2014-02-20			ENSG00000182923	ENSG00000182923	ENSG00000182923	ENSG00000182923				25815	25815	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614724	614724						14654843, 24240477	14654843, 24240477	Standard	Standard	NM_001042383	NM_001042383		Approved	FLJ13386	uc003eqo.1	uc003eqo.1	Q96MT8	Q96MT8	OTTHUMG00000159725	OTTHUMG00000159725	ENST00000337090.3:c.1809C>A	3.37:g.134278127C>A			CEP63_ENST00000383229.3_Intron|CEP63_ENST00000513612.2_Silent_p.I603I|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Silent_p.I603I	p.I603I			Q96MT8	CEP63_HUMAN			14	1982	+			603		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Silent	SNP	ENST00000337090.3	37	c.1809C>A	CCDS3086.1																																																																																									0.453	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1		-33.749739	1	1	139	139	NM_025180		4	6.302497	6.302497	156	0.025	1	0	1	1	1	4	156	0.025	A	134278127	C	A	134278127	2	1	40	1	0	0	0	0	0	0	0	1	3257	816	29	5		5	CEP63	3	134278127	Silent	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		134278127	63744303	6	716											
RDBP	7936	broad.mit.edu	37	6	31921529	31921529	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr6:31921529C>T	ENST00000375429.3	-	10	1248	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	NELFE_ENST00000444811.2_Missense_Mutation_p.G311D|NELFE_ENST00000375425.5_Missense_Mutation_p.G348D	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	341					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GACAGACTTGCCAGTAGCGGC	0.562																																						ENST00000375429.3											0										c.(1021-1023)gGc>gAc	negative elongation factor complex member E						128	130	129					6																	31921529		1510	2708	4218	SO:0001583	missense	7936						g.chr6:31921529C>T	M33230	M33230	CCDS4730.1	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	"RNA binding motif (RRM) containing"	13974	13974	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			154040	154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP	"RD RNA-binding protein", "RD RNA binding protein"	RDBP				Standard	Standard	XM_006715205	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	uc003nyk.3	P18615	P18615	OTTHUMG00000031046	OTTHUMG00000031046	ENST00000375429.3:c.1022G>A	6.37:g.31921529C>T	ENSP00000364578:p.Gly341Asp		NELFE_ENST00000444811.2_Missense_Mutation_p.G311D|NELFE_ENST00000375425.5_Missense_Mutation_p.G348D	p.G341D	NM_002904.5	NP_002895.3					10	1248	-					A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.1022G>A	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112182	0.77210	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811	T;T;T	0.48522	0.85;0.84;0.81	6.07	5.2	0.72013	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	L	0.36672	1.1	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.982;0.982	D;P;P	0.68039	0.955;0.834;0.772	T	0.49051	-0.8979	10	0.40728	T	0.16	-28.8283	16.444	0.83910	0.0:0.8684:0.1316:0.0	.	311;336;341	B4DUN1;E9PCL7;P18615	.;.;NELFE_HUMAN	D	341;348;311	ENSP00000364578:G341D;ENSP00000364574:G348D;ENSP00000388400:G311D	ENSP00000364574:G348D	G	-	2	0	0	RDBP	32029508	32029508	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.094000	0.76944	1.567000	0.49668	0.655000	0.94253	GGC		0.562	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4		-50.595356	-22	-22	93	93			4	6.359201	6.359201	214	0.018349	0	0	0	1	0	4	214	0.018349	T	31921529	C	T	31921529	3	4	40	1	0	0	0	0	1	0	0	0	13188	739	26	2	128	2	RDBP	6	31921529	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		31921529	139193538	7	717											
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|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)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	8e-04	0	5008	,	,		16715	0		0	False		,,,				2504	0					ENST00000395270.1											0			NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt	POM121 transmembrane nucleoporin						189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883			carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	AB014518	CCDS5542.1, CCDS59059.1	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313	ENSG00000196313	ENSG00000196313		"-"	"-"	19702	19702	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615753	615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"		"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	8335683, 9734811, 17900573	Standard	Standard	NM_172020	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	uc003twk.2	Q96HA1	Q96HA1	OTTHUMG00000023527	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser		POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	0	POM121	72036912	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		-69.552490	-46	-46	228	228			4	6.499716	6.499716	279	0.014134	0	0	0	1	0	4	279	0.014134	G	72398976	A	G	72398976	3	3	40	1	0	0	0	0	1	0	0	0	12239	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-VD-A8KA-01B-11D-A39W-08		72398976	86739687	8	718											
PAG1	55824	broad.mit.edu	37	8	81888821	81888821	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr8:81888821G>T	ENST00000220597.4	-	9	1967	c.1257C>A	c.(1255-1257)agC>agA	p.S419R	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	419					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			AGTCACTTATGCTCTCGTAGT	0.512																																						ENST00000220597.4											0			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(1255-1257)agC>agA	phosphoprotein associated with glycosphingolipid microdomains 1						165	133	144					8																	81888821		2203	4300	6503	SO:0001583	missense	55824			epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81888821G>T	AF240634	AF240634	CCDS6227.1	CCDS6227.1	8q21.13	2014-04-30	2014-04-30		2014-04-30	2014-04-30									30043	30043	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"		"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	10790433	Standard	Standard	XM_006716461	XM_006716461		Approved	PAG, CBP	uc003ybz.3	uc003ybz.3	Q9NWQ8	Q9NWQ8			ENST00000220597.4:c.1257C>A	8.37:g.81888821G>T	ENSP00000220597:p.Ser419Arg			p.S419R	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		9	1967	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		419		A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.1257C>A	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743857	0.69418	.	.	ENSG00000076641	ENST00000220597	.	.	.	4.84	2.98	0.34508	4.84	2.98	0.34508	.	0.092128	0.64402	D	0.000001	T	0.70954	0.3283	M	0.69823	2.125	0.48135	D	0.999596	D	0.76494	0.999	D	0.85130	0.997	T	0.72587	-0.4248	9	0.87932	D	0	-23.8918	9.0924	0.36619	0.2471:0.0:0.7529:0.0	.	419	Q9NWQ8	PAG1_HUMAN	R	419	.	ENSP00000220597:S419R	S	-	3	2	2	PAG1	82051376	82051376	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.990000	0.29642	1.136000	0.42199	0.655000	0.94253	AGC		0.512	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3		-8.400084	-29	-29	45	45	NM_018440		5	10.032392	10.032392	84	0.05618	1	0	0.00116845	1	0.00132778	5	84	0.05618	T	81888821	G	T	81888821	3	4	40	1	0	0	0	0	1	0	0	0	11388	1310	46	5	45	5	PAG1	8	81888821	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08		81888821	64475201	9	719	10	2									
PAG1	55824	broad.mit.edu	37	8	81888831	81888831	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr8:81888831T>G	ENST00000220597.4	-	9	1957	c.1247A>C	c.(1246-1248)gAc>gCc	p.D416A	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	416					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GCTCTCGTAGTCGTTCTCCTT	0.532																																						ENST00000220597.4											0			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(1246-1248)gAc>gCc	phosphoprotein associated with glycosphingolipid microdomains 1						158	128	138					8																	81888831		2203	4300	6503	SO:0001583	missense	55824			epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81888831T>G	AF240634	AF240634	CCDS6227.1	CCDS6227.1	8q21.13	2014-04-30	2014-04-30		2014-04-30	2014-04-30									30043	30043	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"		"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	10790433	Standard	Standard	XM_006716461	XM_006716461		Approved	PAG, CBP	uc003ybz.3	uc003ybz.3	Q9NWQ8	Q9NWQ8			ENST00000220597.4:c.1247A>C	8.37:g.81888831T>G	ENSP00000220597:p.Asp416Ala			p.D416A	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		9	1957	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		416		A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.1247A>C	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.340158	0.81911	.	.	ENSG00000076641	ENST00000220597	.	.	.	4.84	4.84	0.62591	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77846	-0.2436	9	0.44086	T	0.13	-34.4554	14.3431	0.66641	0.0:0.0:0.0:1.0	.	416	Q9NWQ8	PAG1_HUMAN	A	416	.	ENSP00000220597:D416A	D	-	2	0	0	PAG1	82051386	82051386	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	5.673000	0.68109	1.920000	0.55613	0.533000	0.62120	GAC		0.532	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3		-10.206879	-17	-17	49	49	NM_018440		5	10.714425	10.714425	93	0.05102	0	0	0	1	0	5	93	0.05102	G	81888831	T	G	81888831	3	3	40	1	0	0	0	0	1	0	0	0	11388	1667	58	5	55	5	PAG1	8	81888831	Missense_Mutation	SNP	T	TCGA-VD-A8KA-01B-11D-A39W-08	10	81888831	64475191	10	720	10	2									
PAG1	55824	broad.mit.edu	37	8	81889006	81889006	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr8:81889006G>A	ENST00000220597.4	-	9	1782	c.1072C>T	c.(1072-1074)Ctc>Ttc	p.L358F	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	358					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GTAGCATAGAGATCATTACAG	0.507																																						ENST00000220597.4											0			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(1072-1074)Ctc>Ttc	phosphoprotein associated with glycosphingolipid microdomains 1						96	98	97					8																	81889006		2203	4300	6503	SO:0001583	missense	55824			epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81889006G>A	AF240634	AF240634	CCDS6227.1	CCDS6227.1	8q21.13	2014-04-30	2014-04-30		2014-04-30	2014-04-30									30043	30043	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Csk-binding protein", "transmembrane adaptor protein PAG"	"Csk-binding protein", "transmembrane adaptor protein PAG"	605767	605767	"phosphoprotein associated with glycosphingolipid microdomains 1"		"phosphoprotein associated with glycosphingolipid microdomains 1"			10790433	10790433	Standard	Standard	XM_006716461	XM_006716461		Approved	PAG, CBP	uc003ybz.3	uc003ybz.3	Q9NWQ8	Q9NWQ8			ENST00000220597.4:c.1072C>T	8.37:g.81889006G>A	ENSP00000220597:p.Leu358Phe			p.L358F	NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		9	1782	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		358		A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.1072C>T	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269666	0.80469	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.139432	0.49916	D	0.000138	T	0.75989	0.3925	M	0.67953	2.075	0.49051	D	0.999749	D	0.76494	0.999	D	0.74023	0.982	T	0.77081	-0.2720	9	0.54805	T	0.06	-19.9645	13.6026	0.62029	0.0:0.0:0.8445:0.1555	.	358	Q9NWQ8	PAG1_HUMAN	F	358	.	ENSP00000220597:L358F	L	-	1	0	0	PAG1	82051561	82051561	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.085000	0.64468	2.501000	0.84356	0.655000	0.94253	CTC		0.507	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3		9.843739	7	7	63	63	NM_018440		11	26.157975	26.157975	94	0.104762	0	0	0	1	0	11	94	0.104762	A	81889006	G	A	81889006	3	1	40	1	0	0	0	0	1	0	0	0	11388	942	33	3	230	3	PAG1	8	81889006	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	175	81889006	64475016	11	721											
GLIS3	169792	broad.mit.edu	37	9	4125772	4125772	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr9:4125772C>A	ENST00000324333.10	-	2	286	c.93G>T	c.(91-93)atG>atT	p.M31I	GLIS3_ENST00000381971.3_Missense_Mutation_p.M186I	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	31					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGGCTGCATTCATTGCCCTCT	0.463																																						ENST00000324333.10											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(91-93)atG>atT	GLIS family zinc finger 3						230	201	211					9																	4125772		2203	4300	6503	SO:0001583	missense	169792			negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4125772C>A	BC033899	BC033899	CCDS6451.1, CCDS43784.1	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	28510	28510	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610192	610192	"zinc finger protein 515"	ZNF515	"zinc finger protein 515"	ZNF515		14500813	14500813	Standard	Standard	NM_152629	NM_152629		Approved	MGC33662	uc003zhx.1	uc003zhx.1	Q8NEA6	Q8NEA6	OTTHUMG00000019463	OTTHUMG00000019463	ENST00000324333.10:c.93G>T	9.37:g.4125772C>A	ENSP00000325494:p.Met31Ile		GLIS3_ENST00000381971.3_Missense_Mutation_p.M186I	p.M31I	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	2	286	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	31		B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.93G>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525742	0.44969	.	.	ENSG00000107249	ENST00000324333;ENST00000381971;ENST00000477901;ENST00000478844;ENST00000481827;ENST00000478315;ENST00000462164	T;T	0.10573	2.89;2.86	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.425772	0.21640	N	0.071346	T	0.08044	0.0201	N	0.14661	0.345	0.26454	N	0.97555	B;B;B	0.12013	0.005;0.005;0.003	B;B;B	0.16289	0.009;0.015;0.004	T	0.21008	-1.0258	10	0.48119	T	0.1	.	14.1821	0.65580	0.1497:0.8503:0.0:0.0	.	61;186;31	Q1PHJ1;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	I	31;186;186;31;186;31;31	ENSP00000325494:M31I;ENSP00000371398:M186I	ENSP00000325494:M31I	M	-	3	0	0	GLIS3	4115772	4115772	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.524000	0.53495	2.632000	0.89209	0.650000	0.86243	ATG		0.463	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1		187.406679	-7	-7	108	108	NM_152629		63	187.599349	187.599349	74	0.459854	1	0	3.61411e-23	1	5.0196e-23	63	74	0.459854	A	4125772	C	A	4125772	3	1	40	1	0	0	0	0	1	0	0	0	6447	826	29	5	2270	5	GLIS3	9	4125772	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		4125772	137087659	12	722											
GBA2	57704	broad.mit.edu	37	9	35741704	35741704	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr9:35741704G>A	ENST00000378103.3	-	4	1274	c.751C>T	c.(751-753)Cgt>Tgt	p.R251C	GBA2_ENST00000545786.1_Missense_Mutation_p.R257C|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Missense_Mutation_p.R251C	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	251					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGATCTGACGGCAGGTGAGG	0.572																																						ENST00000378094.4											0			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(751-753)Cgt>Tgt	glucosidase, beta (bile acid) 2						158	151	153					9																	35741704		2203	4300	6503	SO:0001583	missense	57704			bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35741704G>A	AJ309567	AJ309567	CCDS6589.1	CCDS6589.1	9p13.2	2013-09-11			2013-09-11			ENSG00000070610	ENSG00000070610	ENSG00000070610	ENSG00000070610				18986	18986	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	11489889, 23332916, 23332917	Standard	Standard	NM_020944	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	uc003zxw.3	Q9HCG7	Q9HCG7	OTTHUMG00000021024	OTTHUMG00000021024	ENST00000378103.3:c.751C>T	9.37:g.35741704G>A	ENSP00000367343:p.Arg251Cys		GBA2_ENST00000378103.3_Missense_Mutation_p.R251C|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R257C	p.R251C			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	1264	-	all_epithelial(49;0.167)		251		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.751C>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381320	0.82792	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.38	4.48	0.54585	5.38	4.48	0.54585	Beta-glucosidase, GBA2 type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.91196	3.185	0.80722	D	1	P;D;P	0.89917	0.766;1.0;0.804	B;D;B	0.69307	0.158;0.963;0.244	D	0.87981	0.2743	9	0.87932	D	0	-7.9104	14.1405	0.65316	0.0722:0.0:0.9278:0.0	.	257;251;251	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	C	251;251;257	.	ENSP00000367334:R251C	R	-	1	0	0	GBA2	35731704	35731704	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	4.033000	0.57282	1.404000	0.46819	0.563000	0.77884	CGT		0.572	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1		210.113086	-21	-21	114	114	NM_020944		65	210.121008	210.121008	63	0.507812	0	0	0	1	0	65	63	0.507812	A	35741704	G	A	35741704	3	1	40	1	0	0	0	0	1	0	0	0	6267	1116	39	1	2088	1	GBA2	9	35741704	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	31615932	35741704	105471727	13	723											
INPP5E	56623	broad.mit.edu	37	9	139333192	139333192	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr9:139333192A>C	ENST00000371712.3	-	1	1082	c.680T>G	c.(679-681)cTg>cGg	p.L227R	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGCCCGCACCAGGAGCGGCTG	0.692																																						ENST00000371712.3											0			NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(679-681)cTg>cGg	inositol polyphosphate-5-phosphatase, 72 kDa						11	14	13					9																	139333192		2183	4279	6462	SO:0001583	missense	56623				cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139333192A>C	AF187891	AF187891	CCDS7000.1	CCDS7000.1	9q34.3	2011-02-11			2011-02-11			ENSG00000148384	ENSG00000148384	ENSG00000148384	ENSG00000148384				21474	21474	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613037	613037	"Joubert syndrome 1"	JBTS1	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	10764818, 10577920, 19668216	Standard	Standard	NM_019892	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	uc004cho.3	Q9NRR6	Q9NRR6	OTTHUMG00000020927	OTTHUMG00000020927	ENST00000371712.3:c.680T>G	9.37:g.139333192A>C	ENSP00000360777:p.Leu227Arg			p.L227R	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	1	1082	-		Myeloproliferative disorder(178;0.0511)	227	13 X 4 AA repeats of P-X-X-P.	B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.680T>G	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417168	0.25552	.	.	ENSG00000148384	ENST00000371712	D	0.97906	-4.6	3.7	2.52	0.30459	3.7	2.52	0.30459	.	0.781982	0.10826	N	0.629868	D	0.96156	0.8747	L	0.60455	1.87	0.09310	N	1	D;B	0.55172	0.97;0.325	P;B	0.44696	0.458;0.06	D	0.90299	0.4328	10	0.66056	D	0.02	-19.3516	8.5999	0.33738	0.9054:0.0:0.0946:0.0	.	227;227	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	R	227	ENSP00000360777:L227R	ENSP00000360777:L227R	L	-	2	0	0	INPP5E	138453013	138453013	0.031000	0.19500	0.064000	0.19789	0.134000	0.20937	2.304000	0.43655	0.579000	0.29504	0.460000	0.39030	CTG		0.692	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1		21.523777	8	8	23	23	NM_019892		7	21.538276	21.538276	8	0.466667	0	0	0	1	0	7	8	0.466667	C	139333192	A	C	139333192	3	2	40	1	0	0	0	0	1	0	0	0	7757	188	7	5	1294	5	INPP5E	9	139333192	Missense_Mutation	SNP	A	TCGA-VD-A8KA-01B-11D-A39W-08	103591488	139333192	1880239	14	724											
OR5L2	26338	broad.mit.edu	37	11	55594926	55594926	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr11:55594926G>T	ENST00000378397.1	+	1	232	c.232G>T	c.(232-234)Gtg>Ttg	p.V78L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCAATAATTGTGCCAAAGAT	0.458										HNSCC(27;0.073)																												ENST00000378397.1											0			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(232-234)Gtg>Ttg	olfactory receptor, family 5, subfamily L, member 2						215	200	206					11																	55594926		2200	4296	6496	SO:0001583	missense	26338			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594926G>T	AB065782	AB065782	CCDS31511.1	CCDS31511.1	11q11	2012-08-09			2012-08-09			ENSG00000205030	ENSG00000205030	ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8351	8351	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										1370859	1370859	Standard	Standard	NM_001004739	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	uc001nhy.1	Q8NGL0	Q8NGL0	OTTHUMG00000166812	OTTHUMG00000166812	ENST00000378397.1:c.232G>T	11.37:g.55594926G>T	ENSP00000367650:p.Val78Leu			p.V78L	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	232	+		all_epithelial(135;0.208)	78		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.232G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333860	0.24253	.	.	ENSG00000205030	ENST00000378397	T	0.01347	4.99	5.13	1.12	0.20585	5.13	1.12	0.20585	GPCR, rhodopsin-like superfamily (1);	0.484376	0.17323	N	0.178425	T	0.01489	0.0048	L	0.37800	1.135	0.09310	N	1	B	0.17852	0.024	B	0.18871	0.023	T	0.43556	-0.9384	10	0.72032	D	0.01	-7.7101	7.5047	0.27538	0.4833:0.0:0.5167:0.0	.	78	Q8NGL0	OR5L2_HUMAN	L	78	ENSP00000367650:V78L	ENSP00000367650:V78L	V	+	1	0	0	OR5L2	55351502	55351502	0.000000	0.05858	0.632000	0.29296	0.484000	0.33280	-0.976000	0.03786	0.306000	0.22856	-0.180000	0.13094	GTG		0.458	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1		81.926459	5	5	173	173	NM_001004739		38	100.112822	100.112822	163	0.189055	1	0	2.87052e-16	1	3.58815e-16	38	163	0.189055	T	55594926	G	T	55594926	3	4	40	1	0	0	0	0	1	0	0	0	11171	1377	48	5	234	5	OR5L2	11	55594926	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08		55594926	79411590	15	725											
SIK3	23387	broad.mit.edu	37	11	116729379	116729379	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr11:116729379G>T	ENST00000292055.4	-	20	2519	c.2484C>A	c.(2482-2484)gaC>gaA	p.D828E	SIK3_ENST00000434315.2_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.D886E|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000446921.2_Intron	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	828	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AATGCGCCTGGTCGTAGTTAG	0.547																																						ENST00000375300.1											0			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2656-2658)gaC>gaA	SIK family kinase 3						79	78	78					11																	116729379		2201	4296	6497	SO:0001583	missense	23387				cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729379G>T	AB023216	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			2010-02-17			ENSG00000160584	ENSG00000160584	ENSG00000160584	ENSG00000160584				29165	29165	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614776	614776						10231032, 8889548	10231032, 8889548	Standard	Standard	NM_025164	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	uc001ppy.3	Q9Y2K2	Q9Y2K2	OTTHUMG00000066628	OTTHUMG00000066628	ENST00000292055.4:c.2484C>A	11.37:g.116729379G>T	ENSP00000292055:p.Asp828Glu		SIK3_ENST00000434315.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.D828E|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron	p.D886E			Q9Y2K2	SIK3_HUMAN			20	2663	-			828	Gln-rich.	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2658C>A	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.35|16.35	3.097827|3.097827	0.56075|0.56075	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055|ENST00000445177	T;T|.	0.74002|.	-0.76;-0.8|.	5.57|5.57	5.57|5.57	0.84162|0.84162	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.43747|.	U|.	0.000532|.	T|T	0.51805|0.51805	0.1696|0.1696	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P;P|.	0.38223|.	0.623;0.489|.	B;B|.	0.32289|.	0.143;0.068|.	T|T	0.46331|0.46331	-0.9199|-0.9199	10|5	0.39692|.	T|.	0.17|.	.|.	19.5356|19.5356	0.95253|0.95253	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	828;828|.	Q9Y2K2-3;Q9Y2K2|.	.;SIK3_HUMAN|.	E|T	886;828|928	ENSP00000364449:D886E;ENSP00000292055:D828E|.	ENSP00000292055:D828E|.	D|P	-|-	3|1	2|0	2|0	SIK3|SIK3	116234589|116234589	116234589|116234589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.731000|6.731000	0.74785|0.74785	2.596000|2.596000	0.87737|0.87737	0.655000|0.655000	0.94253|0.94253	GAC|CCA		0.547	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			117.746644	-28	-28	65	65	NM_025164		38	117.771358	117.771358	41	0.481013	1	0	4.14481e-20	1	5.4537e-20	38	41	0.481013	T	116729379	G	T	116729379	3	4	40	1	0	0	0	0	1	0	0	0	14319	1252	44	5	1323	5	SIK3	11	116729379	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	61134453	116729379	18277137	16	726											
C15orf29	79768	broad.mit.edu	37	15	34439412	34439412	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr15:34439412G>T	ENST00000256544.3	-	7	829	c.687C>A	c.(685-687)agC>agA	p.S229R		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	229						nucleolus (GO:0005730)											CTTCAAATTTGCTTTTAAGTA	0.333																																						ENST00000256544.3											0										c.(685-687)agC>agA	katanin p80 subunit B-like 1						59	60	60					15																	34439412		2201	4298	6499	SO:0001583	missense	79768						g.chr15:34439412G>T	AL136908	AL136908	CCDS10034.1	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152	ENSG00000134152	ENSG00000134152				26199	26199	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 15 open reading frame 29"	C15orf29	"chromosome 15 open reading frame 29"	C15orf29		11230166	11230166	Standard	Standard	NM_024713	NM_024713		Approved	FLJ22557	uc001zhp.3	uc001zhp.3	Q9H079	Q9H079	OTTHUMG00000129368	OTTHUMG00000129368	ENST00000256544.3:c.687C>A	15.37:g.34439412G>T	ENSP00000256544:p.Ser229Arg			p.S229R	NM_024713.2	NP_078989.1					7	829	-					A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	ENST00000256544.3	37	c.687C>A	CCDS10034.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780327	0.70222	.	.	ENSG00000134152	ENST00000256544;ENST00000540594	.	.	.	5.7	4.6	0.57074	5.7	4.6	0.57074	.	0.070397	0.85682	D	0.000000	T	0.75729	0.3889	M	0.71036	2.16	0.49582	D	0.999802	D	0.76494	0.999	D	0.75020	0.985	T	0.77558	-0.2543	9	0.72032	D	0.01	.	11.9943	0.53191	0.1472:0.0:0.8528:0.0	.	229	Q9H079	CO029_HUMAN	R	229;133	.	ENSP00000256544:S229R	S	-	3	2	2	C15orf29	32226704	32226704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.573000	0.53856	2.692000	0.91855	0.591000	0.81541	AGC		0.333	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251520.1		-5.724703	-26	-26	24	24	NM_024713		3	6.330435	6.330435	54	0.052632	1	0	1	1	1	3	54	0.052632	T	34439412	G	T	34439412	3	4	40	1	0	0	0	0	1	0	0	0	1789	1310	46	5	243	5	C15orf29	15	34439412	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08		34439412	68091980	17	727											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		75.537062	-5	-5	76	76	NM_002067		26	76.105397	76.105397	39	0.4	0	0	0	1	0	26	39	0.4	T	3118942	A	T	3118942	3	4	40	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8KA-01B-11D-A39W-08		3118942	56010041	18	728											
APBA3	9546	hgsc.bcm.edu	37	19	3759879	3759879	+	Silent	SNP	A	A	G			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	g.chr19:3759879A>G	ENST00000316757.3	-	2	584	c.384T>C	c.(382-384)ccT>ccC	p.P128P	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	128					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCTCTTCAGGACCAGTCT	0.642																																																	0																	31	39	36					19																	3759879		2201	4298	6499	SO:0001819	synonymous_variant	9546							AB021638	AB021638	CCDS12110.1	CCDS12110.1	19p13.3	2008-07-18	2008-07-18		2008-07-18	2008-07-18			ENSG00000011132		ENSG00000011132				580	580	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"X11-like 2"	"X11-like 2"	604262	604262						10049767	10049767	Standard	Standard	NM_004886	NM_004886		Approved	X11L2, mint3	uc002lyp.1	uc002lyp.1	O96018	O96018			ENST00000316757.3:c.384T>C	19.37:g.3759879A>G																		O60483|Q9UPZ2	Silent	SNP	ENST00000316757.3	37		CCDS12110.1																																																																																									0.642	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			-21	-21	58	58			7			111							7	111		G	3759879	A	G	3759879	2	3	40	1	0	0	0	0	0	0	0	1	758	175	7	4		4	APBA3	19	3759879	Silent	SNP	A	TCGA-VD-A8KA-01B-11D-A39W-08	640937	3759879	55369104	19	729											
PPM1J	333926	ucsc.edu	37	1	113255025	113255025	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr1:113255025C>A	ENST00000309276.6	-	4	959	c.784G>T	c.(784-786)Gca>Tca	p.A262S	RP11-426L16.10_ENST00000606505.1_5'Flank|PPM1J_ENST00000464951.1_Missense_Mutation_p.A56S|RP11-426L16.10_ENST00000471038.2_5'Flank|PPM1J_ENST00000359994.4_Missense_Mutation_p.A56S	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	262	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAACCAGTGCACAGCAGCCC	0.622																																																	0																	74	62	66					1																	113255025		2203	4300	6503	SO:0001583	missense	333926							AK093270	AK093270	CCDS855.2	CCDS855.2	1p13.1	2012-04-17	2010-03-05		2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	20785	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	"protein phosphatase 2C zeta"	609957	609957	"protein phosphatase 1J (PP2C domain containing)"		"protein phosphatase 1J (PP2C domain containing)"			12633878	12633878	Standard	Standard	NM_005167	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	uc001ect.1	Q5JR12	Q5JR12	OTTHUMG00000012019	OTTHUMG00000012019	ENST00000309276.6:c.784G>T	1.37:g.113255025C>A	ENSP00000308926:p.Ala262Ser																	B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37		CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	34	5.398311	0.96030	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.29142	1.58;1.58	5.61	5.61	0.85477	5.61	5.61	0.85477	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	T	0.64563	-0.6378	10	0.72032	D	0.01	-13.3802	19.2182	0.93786	0.0:1.0:0.0:0.0	.	262;56	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	S	262;56	ENSP00000308926:A262S;ENSP00000353088:A56S	ENSP00000308926:A262S	A	-	1	0	0	PPM1J	113056548	113056548	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.440000	0.80464	2.643000	0.89663	0.462000	0.41574	GCA		0.622	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1			1	1	37	37	NM_005167		4			24							4	24		A	113255025	C	A	113255025	3	1	41	1	0	0	0	0	1	0	0	0	12342	710	25	5	761	5	PPM1J	1	113255025	Missense_Mutation	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		113255025	135995596	1	730											
OR6K3	391114	broad.mit.edu	37	1	158686997	158686997	+	Silent	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr1:158686997C>T	ENST00000368146.1	-	1	956	c.957G>A	c.(955-957)ctG>ctA	p.L319L	OR6K3_ENST00000368145.1_Silent_p.L303L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	319						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)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAAGACAGAACAGTTTTTTAA	0.388																																						ENST00000368146.1											0			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(955-957)ctG>ctA	olfactory receptor, family 6, subfamily K, member 3						125	128	127					1																	158686997		2203	4300	6503	SO:0001819	synonymous_variant	391114			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158686997C>T	AB065633	AB065633	CCDS30903.1, CCDS30903.2	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			2012-08-09			ENSG00000203757	ENSG00000203757	ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	15030	15030	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001005327	NM_001005327		Approved		uc021pbn.1	uc021pbn.1	Q8NGY3	Q8NGY3	OTTHUMG00000022770	OTTHUMG00000022770	ENST00000368146.1:c.957G>A	1.37:g.158686997C>T			OR6K3_ENST00000368145.1_Silent_p.L303L	p.L319L			Q8NGY3	OR6K3_HUMAN			1	956	-	all_hematologic(112;0.0378)		319		Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.957G>A																																																																																										0.388	OR6K3-201	KNOWN	basic	protein_coding	protein_coding			102.372283	-8	-8	116	116			33	102.400542	102.400542	36	0.478261	0	0	0	1	0	33	36	0.478261	T	158686997	C	T	158686997	2	4	41	1	0	0	0	0	0	0	0	1	11203	465	17	3		3	OR6K3	1	158686997	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	45431972	158686997	90563624	2	731											
NCF2	4688	broad.mit.edu	37	1	183529380	183529380	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr1:183529380T>G	ENST00000367535.3	-	14	1570	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	NCF2_ENST00000418089.1_Missense_Mutation_p.K359T|NCF2_ENST00000367536.1_Missense_Mutation_p.K440T|NCF2_ENST00000469280.1_Intron|NCF2_ENST00000413720.1_Missense_Mutation_p.K395T	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	440					aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TTCACTTTCCTTGGGTTCATC	0.438																																						ENST00000413720.1											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1183-1185)aAg>aCg	neutrophil cytosolic factor 2						217	201	207					1																	183529380		2203	4300	6503	SO:0001583	missense	4688			cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183529380T>G	BC001606	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701	ENSG00000116701	ENSG00000116701		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	7661	7661	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	"NADPH oxidase activator 2", "chronic granulomatous disease, autosomal 2"	608515	608515	"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"		"neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"					Standard	Standard	NM_000433	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	uc001gqk.4	P19878	P19878	OTTHUMG00000035329	OTTHUMG00000035329	ENST00000367535.3:c.1319A>C	1.37:g.183529380T>G	ENSP00000356505:p.Lys440Thr		NCF2_ENST00000469280.1_Intron|NCF2_ENST00000367535.3_Missense_Mutation_p.K440T|NCF2_ENST00000418089.1_Missense_Mutation_p.K359T|NCF2_ENST00000367536.1_Missense_Mutation_p.K440T	p.K395T	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			13	1458	-			440	OPR.	B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.1184A>C	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922659	0.33908	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.70749	-0.51;-0.16;-0.05;-0.51	5.18	2.71	0.32032	5.18	2.71	0.32032	Src homology-3 domain (1);	0.788960	0.11865	N	0.522014	T	0.58481	0.2125	L	0.47716	1.5	0.09310	N	1	B;B;B	0.24823	0.001;0.112;0.036	B;B;B	0.26416	0.001;0.069;0.021	T	0.43376	-0.9395	10	0.14656	T	0.56	-16.6308	5.4961	0.16804	0.3006:0.0:0.1559:0.5435	.	359;395;440	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	T	440;512;395;359;440	ENSP00000356506:K440T;ENSP00000399294:K395T;ENSP00000407217:K359T;ENSP00000356505:K440T	ENSP00000356505:K440T	K	-	2	0	0	NCF2	181796003	181796003	0.001000	0.12720	0.002000	0.10522	0.919000	0.55068	0.822000	0.27352	0.241000	0.21283	0.533000	0.62120	AAG		0.438	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1		101.571981	-20	-20	166	166	NM_000433		34	102.83067	102.83067	57	0.373626	0	0	0	1	0	34	57	0.373626	G	183529380	T	G	183529380	3	3	41	1	0	0	0	0	1	0	0	0	10217	1609	56	5	269	5	NCF2	1	183529380	Missense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08	24842383	183529380	65721241	3	732											
C2orf16	84226	broad.mit.edu	37	2	27804422	27804422	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:27804422C>A	ENST00000408964.2	+	1	5034	c.4983C>A	c.(4981-4983)agC>agA	p.S1661R	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1661	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					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)					CAGAGAGAAGCCATCGCAGTT	0.582																																						ENST00000408964.2											0			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(4981-4983)agC>agA	chromosome 2 open reading frame 16						159	161	161					2																	27804422		1904	4127	6031	SO:0001583	missense	84226						g.chr2:27804422C>A	AL136898	AL136898	CCDS42666.1	CCDS42666.1	2p23.3	2013-09-20			2013-09-20			ENSG00000221843	ENSG00000221843	ENSG00000221843	ENSG00000221843				25275	25275	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"	"P-S-E-R-S-H-H-S repeats containing"										Standard	Standard	NM_032266	NM_032266		Approved	DKFZp434G118	uc002rkz.4	uc002rkz.4	Q68DN1	Q68DN1	OTTHUMG00000159099	OTTHUMG00000159099	ENST00000408964.2:c.4983C>A	2.37:g.27804422C>A	ENSP00000386190:p.Ser1661Arg			p.S1661R	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5034	+	Acute lymphoblastic leukemia(172;0.155)		1661	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.4983C>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	7.587	0.669947	0.14776	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.1	-1.3	0.09259	3.1	-1.3	0.09259	.	.	.	.	.	T	0.05640	0.0148	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38112	-0.9676	9	0.48119	T	0.1	.	3.7016	0.08384	0.3288:0.4636:0.0:0.2076	.	1661	Q68DN1	CB016_HUMAN	R	1661	ENSP00000386190:S1661R	ENSP00000386190:S1661R	S	+	3	2	2	C2orf16	27657926	27657926	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.378000	0.00492	-0.487000	0.06735	-2.225000	0.00294	AGC		0.582	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		16.434163	-2	-2	292	292	NM_032266		15	34.391393	34.391393	111	0.119048	1	0	4.14922e-12	1	4.40068e-12	15	111	0.119048	A	27804422	C	A	27804422	3	1	41	1	0	0	0	0	1	0	0	0	2157	738	26	5	4985	5	C2orf16	2	27804422	Missense_Mutation	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		27804422	215394951	4	733			1	5		2	2	16	N	T_C	1.308268e-05
C2orf16	84226	broad.mit.edu	37	2	27804437	27804437	+	Silent	SNP	T	T	A	rs201236336	byFrequency	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:27804437T>A	ENST00000408964.2	+	1	5049	c.4998T>A	c.(4996-4998)tcT>tcA	p.S1666S	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1666	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					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)					GCAGTTCCTCTGAGAGAAGAC	0.577																																						ENST00000408964.2											0			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(4996-4998)tcT>tcA	chromosome 2 open reading frame 16						153	156	155					2																	27804437		1905	4118	6023	SO:0001819	synonymous_variant	84226						g.chr2:27804437T>A	AL136898	AL136898	CCDS42666.1	CCDS42666.1	2p23.3	2013-09-20			2013-09-20			ENSG00000221843	ENSG00000221843	ENSG00000221843	ENSG00000221843				25275	25275	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"	"P-S-E-R-S-H-H-S repeats containing"										Standard	Standard	NM_032266	NM_032266		Approved	DKFZp434G118	uc002rkz.4	uc002rkz.4	Q68DN1	Q68DN1	OTTHUMG00000159099	OTTHUMG00000159099	ENST00000408964.2:c.4998T>A	2.37:g.27804437T>A				p.S1666S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5049	+	Acute lymphoblastic leukemia(172;0.155)		1666	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.4998T>A	CCDS42666.1																																																																																									0.577	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		37.446423	-1	-1	280	280	NM_032266		19	51.252151	51.252151	103	0.155738	0	0	0	1	0	19	103	0.155738	A	27804437	T	A	27804437	2	1	41	1	0	0	0	0	0	0	0	1	2157	1567	55	5		5	C2orf16	2	27804437	Silent	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08	15	27804437	215394936	5	734			1	5		2	2	16	N	T_C	1.308268e-05
SAP130	79595	broad.mit.edu	37	2	128775359	128775359	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:128775359C>A	ENST00000259235.3	-	3	450	c.321G>T	c.(319-321)ttG>ttT	p.L107F	SAP130_ENST00000259234.6_Missense_Mutation_p.L81F|SAP130_ENST00000357702.5_Missense_Mutation_p.L107F	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	107					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGTGTGTCGACAACATCTGCA	0.582																																						ENST00000357702.5											0			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(319-321)ttG>ttT	Sin3A-associated protein, 130kDa						149	126	134					2																	128775359		2203	4300	6503	SO:0001583	missense	79595			histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128775359C>A	BC017453	BC017453	CCDS2153.1, CCDS54397.1	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715	ENSG00000136715	ENSG00000136715				29813	29813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609697	609697	"sin3A-associated protein, 130kDa"		"sin3A-associated protein, 130kDa"			11230166, 12724404	11230166, 12724404	Standard	Standard	NM_001145928	NM_001145928		Approved	FLJ12761	uc010fmd.2	uc010fmd.2	Q9H0E3	Q9H0E3	OTTHUMG00000131571	OTTHUMG00000131571	ENST00000259235.3:c.321G>T	2.37:g.128775359C>A	ENSP00000259235:p.Leu107Phe		SAP130_ENST00000259234.6_Missense_Mutation_p.L81F|SAP130_ENST00000259235.3_Missense_Mutation_p.L107F	p.L107F	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	3	452	-	Colorectal(110;0.1)		107		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.321G>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238823	0.58995	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.79	4.92	0.64577	5.79	4.92	0.64577	.	0.247403	0.34750	N	0.003714	T	0.59824	0.2222	L	0.32530	0.975	0.44515	D	0.99746	P;D;D	0.71674	0.487;0.997;0.998	B;D;D	0.65010	0.189;0.931;0.914	T	0.54655	-0.8261	9	0.09084	T	0.74	-9.8508	13.0129	0.58741	0.0:0.9254:0.0:0.0746	.	107;81;107	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	F	107;107;81;81;81	.	ENSP00000259234:L81F	L	-	3	2	2	SAP130	128491829	128491829	1.000000	0.71417	0.994000	0.49952	0.719000	0.41307	5.228000	0.65310	1.442000	0.47568	0.585000	0.79938	TTG		0.582	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3		104.473721	-46	-46	98	98	NM_024545		36	106.19866	106.19866	64	0.36	1	0	3.93418e-24	1	4.44182e-24	36	64	0.36	A	128775359	C	A	128775359	3	1	41	1	0	0	0	0	1	0	0	0	13831	477	17	5	3006	5	SAP130	2	128775359	Missense_Mutation	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	100970922	128775359	114424014	6	735											
GTDC1	79712	broad.mit.edu	37	2	144966218	144966218	+	Missense_Mutation	SNP	G	G	A	rs115723847		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:144966218G>A	ENST00000392869.2	-	3	283	c.131C>T	c.(130-132)aCa>aTa	p.T44I	GTDC1_ENST00000542155.1_Missense_Mutation_p.T44I|GTDC1_ENST00000392867.3_Missense_Mutation_p.T44I|GTDC1_ENST00000344850.4_Missense_Mutation_p.T44I|GTDC1_ENST00000241391.5_Missense_Mutation_p.T44I|GTDC1_ENST00000409298.1_Missense_Mutation_p.T44I|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000409214.1_Missense_Mutation_p.T44I|GTDC1_ENST00000467352.1_5'Flank	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	44					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TAAAGCAGATGTCCGGGCTCT	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		16013	0		0	False		,,,				2504	0					ENST00000392869.2											0			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(130-132)aCa>aTa	glycosyltransferase-like domain containing 1						86	86	86					2																	144966218		2203	4300	6503	SO:0001583	missense	79712			biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144966218G>A	AY281366	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			2013-02-22			ENSG00000121964	ENSG00000121964	ENSG00000121964	ENSG00000121964		"Glycosyltransferase group 1 domain containing"	"Glycosyltransferase group 1 domain containing"	20887	20887	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"mannosyltransferase-like"	"mannosyltransferase-like"	610165	610165						15068588, 21821951	15068588, 21821951	Standard	Standard	NM_024659	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	uc010fnn.3	Q4AE62	Q4AE62	OTTHUMG00000131835	OTTHUMG00000131835	ENST00000392869.2:c.131C>T	2.37:g.144966218G>A	ENSP00000376608:p.Thr44Ile		GTDC1_ENST00000409214.1_Missense_Mutation_p.T44I|GTDC1_ENST00000392867.3_Missense_Mutation_p.T44I|GTDC1_ENST00000542155.1_Missense_Mutation_p.T44I|GTDC1_ENST00000241391.5_Missense_Mutation_p.T44I|GTDC1_ENST00000409298.1_Missense_Mutation_p.T44I|GTDC1_ENST00000344850.4_Missense_Mutation_p.T44I|GTDC1_ENST00000463875.2_Intron	p.T44I	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	3	283	-					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.131C>T	CCDS33300.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.7	4.666378	0.88251	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	6.08	6.08	0.98989	6.08	6.08	0.98989	Glycosyltransferase family 1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.958;1.0;1.0;1.0	P;D;D;D	0.91635	0.693;0.993;0.999;0.991	T	0.65660	-0.6114	10	0.52906	T	0.07	0.0079	20.6634	0.99662	0.0:0.0:1.0:0.0	.	44;44;44;44	Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	I	44	ENSP00000376608:T44I;ENSP00000386581:T44I;ENSP00000376606:T44I;ENSP00000386691:T44I;ENSP00000438323:T44I;ENSP00000241391:T44I;ENSP00000339750:T44I;ENSP00000403869:T44I;ENSP00000400661:T44I	ENSP00000241391:T44I	T	-	2	0	0	GTDC1	144682688	144682688	1.000000	0.71417	0.982000	0.44146	0.852000	0.48524	9.320000	0.96346	2.894000	0.99253	0.655000	0.94253	ACA		0.428	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2		16.671035	0	0	64	64	NM_024659		8	21.288097	21.288097	38	0.173913	0	0	0	1	0	8	38	0.173913	A	144966218	G	A	144966218	3	1	41	1	0	0	0	0	1	0	0	0	6851	1377	48	3	1281	3	GTDC1	2	144966218	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	16190859	144966218	98233155	7	736											
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(5)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)Cgt>Tgt	splicing factor 3b, subunit 1, 155kDa						93	90	91					2																	198267484		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys			p.R625C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1964	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	0	SF3B1	197975729	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		65.565585	0	0	54	54			21	66.064531	66.064531	32	0.396226	0	0	0	1	0	21	32	0.396226	A	198267484	G	A	198267484	3	1	41	1	0	0	0	0	1	0	0	0	14149	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	53301266	198267484	44931889	8	737											
SCN11A	11280	broad.mit.edu	37	3	38913708	38913708	+	Silent	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr3:38913708C>T	ENST00000302328.3	-	20	3669	c.3471G>A	c.(3469-3471)gcG>gcA	p.A1157A	SCN11A_ENST00000450244.1_Silent_p.A1157A|SCN11A_ENST00000444237.2_Silent_p.A1157A|SCN11A_ENST00000456224.3_Silent_p.A1119A	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1157					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTGGGACAGCGCACGAAGAG	0.478																																						ENST00000450244.1											0			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(3469-3471)gcG>gcA	sodium channel, voltage-gated, type XI, alpha subunit						163	158	160					3																	38913708		2203	4300	6503	SO:0001819	synonymous_variant	11280			response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38913708C>T	AF126739	AF126739	CCDS33737.1	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356	ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	10583	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604385	604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	10444332, 16382098	Standard	Standard	NM_014139	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	uc021wvy.1	Q9UI33	Q9UI33	OTTHUMG00000048246	OTTHUMG00000048246	ENST00000302328.3:c.3471G>A	3.37:g.38913708C>T			SCN11A_ENST00000444237.2_Silent_p.A1157A|SCN11A_ENST00000456224.3_Silent_p.A1119A|SCN11A_ENST00000302328.3_Silent_p.A1157A	p.A1157A			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	20	3669	-			1157		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.3471G>A	CCDS33737.1																																																																																									0.478	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		192.599797	-62	-62	144	144	NM_014139		60	192.599797	192.599797	60	0.5	0	0	0	1	0	60	60	0.5	T	38913708	C	T	38913708	2	4	41	1	0	0	0	0	0	0	0	1	13913	755	27	1		1	SCN11A	3	38913708	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		38913708	159108722	9	738											
PRSS50	29122	broad.mit.edu	37	3	46755884	46755901	+	In_Frame_Del	DEL	CGGTACCTGCTATGCATG	CGGTACCTGCTATGCATG	-	rs201421841|rs142097717	byFrequency	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr3:46755884_46755901delCGGTACCTGCTATGCATG	ENST00000460241.1	-	9	2231_2248	c.561_578delCATGCATAGCAGGTACCG	c.(559-579)atcatgcatagcaggtaccgg>atg	p.187_193IMHSRYR>M	PRSS50_ENST00000315170.7_In_Frame_Del_p.187_193IMHSRYR>M			Q9UI38	TSP50_HUMAN	protease, serine, 50	187	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCGCTGGGCCCGGTACCTGCTATGCATGATGACCTGGA	0.61																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1											0			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(559-579)atcatgcatagcaggtaccgg>atg	protease, serine, 50																																			SO:0001651	inframe_deletion	29122			proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46755884_46755901delCGGTACCTGCTATGCATG	AF100707	AF100707	CCDS2745.1	CCDS2745.1	3p21.31	2011-05-24			2011-05-24			ENSG00000206549	ENSG00000206549	ENSG00000206549	ENSG00000206549		"Serine peptidases / Serine peptidases"	"Serine peptidases / Serine peptidases"	17910	17910	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cancer/testis antigen 20", "testes specific protease 50"	"cancer/testis antigen 20", "testes specific protease 50"	607950	607950						10397268	10397268	Standard	Standard	NM_013270	NM_013270		Approved	TSP50, CT20	uc003cqe.1	uc003cqe.1	Q9UI38	Q9UI38	OTTHUMG00000164067	OTTHUMG00000164067	ENST00000460241.1:c.561_578delCATGCATAGCAGGTACCG	3.37:g.46755884_46755901delCGGTACCTGCTATGCATG	ENSP00000418875:p.Ile187_Arg193delinsMet		PRSS50_ENST00000315170.7_In_Frame_Del_p.187_193IMHSRYR>M	p.187_193IMHSRYR>M			Q9UI38	TSP50_HUMAN			9	2231_2248	-			187	Peptidase S1.		In_Frame_Del	DEL	ENST00000460241.1	37	c.561_578delCATGCATAGCAGGTACCG	CCDS2745.1																																																																																									0.61	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1	.	.	1	1	18	18			2			4	0.33						2	4	0.33	-	46755901	CGGTACCTGCTATGCATG	-	46755884	7	5	41	1	0	1	0	1	0	0	0	0	12631	652	23	0	591	0	PRSS50	3	46755884	In_Frame_Del	DEL	CGGTACCTGCTATGCATG	TCGA-VD-A8KB-01A-11D-A39W-08	7842176	46755884	151266546	10	739											
ROS1	6098	broad.mit.edu	37	6	117710788	117710788	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr6:117710788G>A	ENST00000368508.3	-	12	1682	c.1484C>T	c.(1483-1485)cCc>cTc	p.P495L	ROS1_ENST00000368507.3_Missense_Mutation_p.P504L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	495					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCAGCAAAGGGGATGCGAGG	0.423			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																	ENST00000368508.3		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0			NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1483-1485)cCc>cTc	c-ros oncogene 1 , receptor tyrosine kinase						90	81	84					6																	117710788		2203	4300	6503	SO:0001583	missense	6098			transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117710788G>A	M13599	M13599	CCDS5116.1	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936	ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	"Fibronectin type III domain containing"	10261	10261	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			165020	165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"		"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	1611909	Standard	Standard	NM_002944	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	uc003pxp.1	P08922	P08922	OTTHUMG00000016188	OTTHUMG00000016188	ENST00000368508.3:c.1484C>T	6.37:g.117710788G>A	ENSP00000357494:p.Pro495Leu		ROS1_ENST00000368507.3_Missense_Mutation_p.P504L|GOPC_ENST00000467125.1_Intron	p.P495L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	12	1682	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	495		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1484C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039770	0.19669	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90900	-2.75;-2.75	5.92	4.12	0.48240	5.92	4.12	0.48240	.	0.571379	0.17934	N	0.157078	T	0.74550	0.3731	N	0.24115	0.695	0.46701	D	0.999164	B	0.09022	0.002	B	0.06405	0.002	T	0.71553	-0.4558	10	0.66056	D	0.02	.	9.5245	0.39156	0.0748:0.1426:0.7826:0.0	.	495	P08922	ROS1_HUMAN	L	495;504	ENSP00000357494:P495L;ENSP00000357493:P504L	ENSP00000357493:P504L	P	-	2	0	0	ROS1	117817481	117817481	0.998000	0.40836	0.183000	0.23137	0.044000	0.14063	2.718000	0.47236	0.829000	0.34733	0.561000	0.74099	CCC		0.423	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		70.792554	-6	-6	57	57			19	72.939192	72.939192	1	0.95	0	0	0	1	0	19	1	0.95	A	117710788	G	A	117710788	3	1	41	1	0	0	0	0	1	0	0	0	13531	1232	43	3	5687	3	ROS1	6	117710788	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		117710788	53404279	11	740											
C7orf55	154791	broad.mit.edu	37	7	139026134	139026134	+	Missense_Mutation	SNP	G	G	A	rs75669887		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr7:139026134G>A	ENST00000297534.6	+	1	257	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	LUC7L2_ENST00000541515.3_Missense_Mutation_p.A2T|C7orf55_ENST00000481123.1_Intron|C7orf55-LUC7L2_ENST00000541170.3_Intron	NM_197964.4	NP_932068.2	Q96HJ9	CG055_HUMAN	chromosome 7 open reading frame 55	2						mitochondrion (GO:0005739)				breast(1)|lung(2)	3						CAGGACAATGGCGGCCTTAGG	0.657											OREG0018357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		15526	0		0.001	False		,,,				2504	0					ENST00000541515.3											0			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16						c.(4-6)Gcg>Acg	LUC7-like 2 (S. cerevisiae)						54	63	60					7																	139026134		2203	4300	6503	SO:0001583	missense	51631					enzyme binding|metal ion binding	g.chr7:139026134G>A	AF161386	AF151832	CCDS5853.1	CCDS43656.1, CCDS59085.1, CCDS59510.1	7q34	2009-01-22	2009-01-22	2009-01-22	2013-05-09			ENSG00000164898	ENSG00000164898	ENSG00000269955	ENSG00000269955				26946	21608	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"formation of mitochondrial complexes 1 homolog (S. cerevisiae)"	"CGI-74 protein"		613056						12477932	10810093	Standard	Standard	NM_197964	NM_001244585		Approved	HSPC268, FMC1			Q96HJ9	Q9Y383	OTTHUMG00000151719	OTTHUMG00000185163	ENST00000297534.6:c.4G>A	7.37:g.139026134G>A	ENSP00000297534:p.Ala2Thr	1645	C7orf55-LUC7L2_ENST00000541170.3_Intron|C7orf55_ENST00000297534.6_Missense_Mutation_p.A2T|C7orf55_ENST00000481123.1_Intron	p.A2T	NM_001244584.2	NP_001231513.1	Q9Y383	LC7L2_HUMAN			1	29	+	Melanoma(164;0.242)		0		B7Z4Q3|Q75M90|Q9P0B3	Missense_Mutation	SNP	ENST00000297534.6	37	c.4G>A	CCDS5853.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	24.4	4.529993	0.85706	.	.	ENSG00000164898;ENSG00000146963	ENST00000297534;ENST00000541515	T;T	0.53640	0.61;1.28	5.46	4.58	0.56647	5.46	4.58	0.56647	.	0.067803	0.56097	D	0.000025	T	0.48205	0.1487	M	0.68593	2.085	0.49130	D	0.999758	B;B	0.22746	0.02;0.074	B;B	0.20955	0.006;0.032	T	0.51593	-0.8686	10	0.72032	D	0.01	-0.0343	14.2126	0.65773	0.0713:0.0:0.9287:0.0	.	2;2	B7Z4Q3;Q96HJ9	.;CG055_HUMAN	T	2	ENSP00000297534:A2T;ENSP00000440222:A2T	ENSP00000297534:A2T	A	+	1	0	0	LUC7L2;C7orf55	138676674	138676674	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.514000	0.60482	1.546000	0.49388	0.591000	0.81541	GCG		0.657	C7orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323626.1		60.091348	-26	-26	49	49	NM_197964		20	60.382398	60.382398	28	0.416667	0	0	0	1	0	20	28	0.416667	A	139026134	G	A	139026134	3	1	41	1	0	0	0	0	1	0	0	0	2403	1203	42	2	6	2	C7orf55	7	139026134	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		139026134	20112529	12	741											
DENND3	22898	broad.mit.edu	37	8	142161751	142161751	+	Missense_Mutation	SNP	G	G	A	rs571831372		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr8:142161751G>A	ENST00000262585.2	+	7	927	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	DENND3_ENST00000519811.1_Missense_Mutation_p.V297I|DENND3_ENST00000424248.1_Missense_Mutation_p.V217I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	217	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCGGATCGTCTTCTTCTC	0.542													G|||	1	0.000199681	0	0	5008	,	,		16882	0		0.001	False		,,,				2504	0					ENST00000519811.1											0			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(889-891)Gtc>Atc	DENN/MADD domain containing 3						150	121	131					8																	142161751		2203	4300	6503	SO:0001583	missense	22898						g.chr8:142161751G>A	AB020677	AB020677	CCDS34947.1	CCDS34947.1	8q24.3	2013-01-10			2013-01-10				ENSG00000105339		ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	"DENN/MADD domain containing", "WD repeat domain containing"	29134	29134	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10048485	10048485	Standard	Standard	NM_014957	NM_014957		Approved	KIAA0870	uc003yvy.3	uc003yvy.3	A2RUS2	A2RUS2			ENST00000262585.2:c.649G>A	8.37:g.142161751G>A	ENSP00000262585:p.Val217Ile		DENND3_ENST00000262585.2_Missense_Mutation_p.V217I|DENND3_ENST00000424248.1_Missense_Mutation_p.V217I	p.V297I			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		7	959	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		217		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.889G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.52|19.52	3.842905|3.842905	0.71488|0.71488	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986	.|T;T;T;T	.|0.07800	.|3.16;3.16;3.16;3.16	5.38|5.38	5.38|5.38	0.77491|0.77491	5.38|5.38	5.38|5.38	0.77491|0.77491	.|DENN (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.21801|0.21801	0.0525|0.0525	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.992	T|T	0.01679|0.01679	-1.1297|-1.1297	5|10	.|0.25106	.|T	.|0.35	-16.2549|-16.2549	19.1045|19.1045	0.93287|0.93287	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|297;217	.|E9PF32;A2RUS2	.|.;DEND3_HUMAN	H|I	273|217;217;297;219	.|ENSP00000262585:V217I;ENSP00000410594:V217I;ENSP00000428714:V297I;ENSP00000429780:V219I	.|ENSP00000262585:V217I	R|V	+|+	2|1	0|0	0|0	DENND3|DENND3	142230933|142230933	142230933|142230933	1.000000|1.000000	0.71417|0.71417	0.752000|0.752000	0.31206|0.31206	0.181000|0.181000	0.23173|0.23173	9.107000|9.107000	0.94261|0.94261	2.506000|2.506000	0.84524|0.84524	0.563000|0.563000	0.77884|0.77884	CGT|GTC		0.542	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding			32.080874	-27	-27	101	101	NM_014957		20	48.763545	48.763545	118	0.144928	0	0	0	1	0	20	118	0.144928	A	142161751	G	A	142161751	3	1	41	1	0	0	0	0	1	0	0	0	4432	1145	40	1	671	1	DENND3	8	142161751	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		142161751	4202271	13	742											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		137.879886	-22	-22	90	90	NM_002072		41	137.982794	137.982794	35	0.539474	0	0	0	1	0	41	35	0.539474	G	80409488	T	G	80409488	3	3	41	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08		80409488	60803943	14	743											
TRAF2	7186	broad.mit.edu	37	9	139820173	139820173	+	Silent	SNP	C	C	T	rs560077345		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr9:139820173C>T	ENST00000247668.2	+	11	1378	c.1326C>T	c.(1324-1326)caC>caT	p.H442H	TRAF2_ENST00000536468.1_Silent_p.H442H|TRAF2_ENST00000359662.3_Silent_p.H494H	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	442	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ACCGGGAGCACGTGATTGACG	0.602													C|||	1	0.000199681	0	0	5008	,	,		19017	0.001		0	False		,,,				2504	0					ENST00000359662.3											0			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1480-1482)caC>caT	TNF receptor-associated factor 2						97	73	81					9																	139820173		2203	4300	6503	SO:0001819	synonymous_variant	7186			activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139820173C>T	U12597	U12597	CCDS7013.1	CCDS7013.1	9q34	2013-01-09			2013-01-09			ENSG00000127191	ENSG00000127191	ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	12032	12032	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601895	601895						7639698	7639698	Standard	Standard	NM_021138	NM_021138		Approved	TRAP3	uc004cjv.3	uc004cjv.3	Q12933	Q12933	OTTHUMG00000020952	OTTHUMG00000020952	ENST00000247668.2:c.1326C>T	9.37:g.139820173C>T			TRAF2_ENST00000247668.2_Silent_p.H442H|TRAF2_ENST00000536468.1_Silent_p.H442H	p.H494H			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	11	1527	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	442	MATH.	A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	ENST00000247668.2	37	c.1482C>T	CCDS7013.1																																																																																									0.602	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1		51.535277	-11	-11	64	64	NM_021138		18	52.507637	52.507637	33	0.352941	0	0	0	1	0	18	33	0.352941	T	139820173	C	T	139820173	2	4	41	1	0	0	0	0	0	0	0	1	16435	535	19	1		1	TRAF2	9	139820173	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	59410685	139820173	1393258	15	744											
ADRBK1	156	broad.mit.edu	37	11	67051341	67051342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr11:67051341_67051342insC	ENST00000308595.5	+	17	1702_1703	c.1412_1413insC	c.(1411-1416)atccccfs	p.IP471fs	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	471	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCCCCGCTGATCCCCCCACGAG	0.634																																						ENST00000308595.5											0			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1411-1416)atccccfs	adrenergic, beta, receptor kinase 1																																			SO:0001589	frameshift_variant	156			activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67051341_67051342insC	X61157	X61157	CCDS8156.1	CCDS8156.1	11q13	2013-01-10			2013-01-10			ENSG00000173020	ENSG00000173020	ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	289	289	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			109635	109635						2037065	2037065	Standard	Standard	NM_001619	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	uc009yrn.1	P25098	P25098	OTTHUMG00000167104	OTTHUMG00000167104	ENST00000308595.5:c.1418dupC	11.37:g.67051347_67051347dupC	ENSP00000312262:p.Ile471fs		ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	p.IP471fs	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		17	1702_1703	+			471	AGC-kinase C-terminal.	B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Ins	INS	ENST00000308595.5	37	c.1412_1413insC	CCDS8156.1																																																																																									0.634	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	.	.	10	10	31	31	NM_001619		2			4	0.33						2	4	0.33	C	67051342	-	C	67051341	7	5	41	1	0	1	1	0	0	0	0	0	343	1435	50	0	1478	0	ADRBK1	11	67051341	Frame_Shift_Ins	INS	-	TCGA-VD-A8KB-01A-11D-A39W-08		67051341	67955175	16	745											
LMO3	55885	broad.mit.edu	37	12	16753678	16753678	+	Silent	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr12:16753678C>T	ENST00000320122.6	-	2	639	c.117G>A	c.(115-117)aaG>aaA	p.K39K	LMO3_ENST00000354662.1_Silent_p.K39K|LMO3_ENST00000441439.2_Silent_p.K39K|LMO3_ENST00000537304.1_Silent_p.K39K|LMO3_ENST00000447609.1_Silent_p.K39K|LMO3_ENST00000540445.1_Silent_p.K39K|LMO3_ENST00000541846.1_Silent_p.K39K|LMO3_ENST00000261169.6_Silent_p.K50K|LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000540848.1_Silent_p.K39K|LMO3_ENST00000535535.1_Silent_p.K39K|LMO3_ENST00000541295.1_Silent_p.K57K|LMO3_ENST00000534946.1_Silent_p.K39K	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	39	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				AGCAGGCACACTTCAGGCAGT	0.498																																						ENST00000320122.6											0			endometrium(2)|large_intestine(2)|skin(1)	5						c.(115-117)aaG>aaA	LIM domain only 3 (rhombotin-like 2)						154	133	140					12																	16753678		2203	4300	6503	SO:0001819	synonymous_variant	55885			regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding	g.chr12:16753678C>T	BC026311	BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			2004-05-19			ENSG00000048540	ENSG00000048540	ENSG00000048540	ENSG00000048540				6643	6643	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180386	180386		RBTNL2		RBTNL2		11489251	11489251	Standard	Standard	NM_018640	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	uc010shy.2	Q8TAP4	Q8TAP4	OTTHUMG00000168837	OTTHUMG00000168837	ENST00000320122.6:c.117G>A	12.37:g.16753678C>T			LMO3_ENST00000534946.1_Silent_p.K39K|LMO3_ENST00000354662.1_Silent_p.K39K|LMO3_ENST00000540445.1_Silent_p.K39K|LMO3_ENST00000261169.6_Silent_p.K50K|LMO3_ENST00000541295.1_Silent_p.K57K|LMO3_ENST00000441439.2_Silent_p.K39K|LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000540848.1_Silent_p.K39K|LMO3_ENST00000535535.1_Silent_p.K39K|LMO3_ENST00000537304.1_Silent_p.K39K|LMO3_ENST00000447609.1_Silent_p.K39K|LMO3_ENST00000541846.1_Silent_p.K39K	p.K39K	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN			2	639	-		Hepatocellular(102;0.244)	39	LIM zinc-binding 1.	B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Silent	SNP	ENST00000320122.6	37	c.117G>A	CCDS8678.1																																																																																									0.498	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401279.1		97.719904	-11	-11	75	75	NM_018640		31	97.772668	97.772668	35	0.469697	0	0	0	1	0	31	35	0.469697	T	16753678	C	T	16753678	2	4	41	1	0	0	0	0	0	0	0	1	8853	564	20	3		3	LMO3	12	16753678	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		16753678	117098217	17	746											
PITPNM2	57605	broad.mit.edu	37	12	123481386	123481386	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr12:123481386G>T	ENST00000542749.1	-	10	1607	c.1544C>A	c.(1543-1545)cCc>cAc	p.P515H	PITPNM2_ENST00000320201.4_Missense_Mutation_p.P515H|PITPNM2_ENST00000280562.5_Missense_Mutation_p.P515H|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P236H			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	515					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGCCAGCAGGGGGAGGGCAGC	0.637																																						ENST00000280562.5											0			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1543-1545)cCc>cAc	phosphatidylinositol transfer protein, membrane-associated 2						49	49	49					12																	123481386		2203	4300	6503	SO:0001583	missense	57605			metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481386G>T	AF334585	AF334585	CCDS9242.1, CCDS73543.1	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05			2008-02-05				ENSG00000090975		ENSG00000090975				21044	21044	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608920	608920						10022914	10022914	Standard	Standard	XM_005253582	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	uc001uej.1	Q9BZ72	Q9BZ72			ENST00000542749.1:c.1544C>A	12.37:g.123481386G>T	ENSP00000437611:p.Pro515His		PITPNM2_ENST00000320201.4_Missense_Mutation_p.P515H|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P236H|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P515H	p.P515H			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	11	1749	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		515		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1544C>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002812	0.74932	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	4.81	3.92	0.45320	4.81	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.82193	2.58	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.55153	-0.8185	10	0.87932	D	0	-17.2931	13.0406	0.58897	0.0784:0.0:0.9216:0.0	.	515;515	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	H	515;515;236;515	ENSP00000280562:P515H;ENSP00000322218:P515H;ENSP00000376223:P236H;ENSP00000437611:P515H	ENSP00000280562:P515H	P	-	2	0	0	PITPNM2	122047339	122047339	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	7.976000	0.88070	1.033000	0.39918	0.460000	0.39030	CCC		0.637	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1		54.440222	-7	-7	74	74	NM_020845		18	54.446323	54.446323	19	0.486486	1	0	8.34094e-07	1	8.58626e-07	18	19	0.486486	T	123481386	G	T	123481386	3	4	41	1	0	0	0	0	1	0	0	0	11951	1232	43	5	2565	5	PITPNM2	12	123481386	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	106727708	123481386	10370509	18	747											
RYR3	6263	broad.mit.edu	37	15	34103222	34103222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr15:34103222T>A	ENST00000389232.4	+	72	10311	c.10241T>A	c.(10240-10242)tTg>tAg	p.L3414*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.L3409*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3414					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGAACAACTTGCACTTGCAG	0.478																																						ENST00000389232.4											0			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(10240-10242)tTg>tAg	ryanodine receptor 3						46	45	46					15																	34103222		1984	4170	6154	SO:0001587	stop_gained	6263			cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34103222T>A			CCDS45210.1, CCDS58351.1	CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10			2013-01-10				ENSG00000198838		ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	10485	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180903	180903						8276408	8276408	Standard	Standard	NM_001036	NM_001036		Approved		uc001zhi.3	uc001zhi.3	Q15413	Q15413			ENST00000389232.4:c.10241T>A	15.37:g.34103222T>A	ENSP00000373884:p.Leu3414*		RYR3_ENST00000415757.3_Nonsense_Mutation_p.L3409*	p.L3414*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	72	10311	+		all_lung(180;7.18e-09)	3414		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.10241T>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	53	20.138827	0.99927	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6314	0.76912	0.0:0.0:0.0:1.0	.	.	.	.	X	3414;3414;3409	.	ENSP00000354735:L3409X	L	+	2	0	0	RYR3	31890514	31890514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.431000	0.80335	2.094000	0.63399	0.459000	0.35465	TTG		0.478	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		8.622836	8	8	16	16			3	8.732633	8.732633	5	0.375	0	0	0	1	0	3	5	0.375	A	34103222	T	A	34103222	4	1	41	1	0	0	0	0	0	1	0	0	13770	1821	63	5	10527	5	RYR3	15	34103222	Nonsense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08		34103222	68428170	19	748											
KIAA1024	23251	broad.mit.edu	37	15	79760547	79760547	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr15:79760547C>T	ENST00000305428.3	+	4	2647	c.2572C>T	c.(2572-2574)Cca>Tca	p.P858S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	858						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ATCTTTAAACCCAAATAATTT	0.388																																						ENST00000305428.3											0			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2572-2574)Cca>Tca	KIAA1024						38	34	35					15																	79760547		2196	4293	6489	SO:0001583	missense	23251				integral to membrane		g.chr15:79760547C>T	AB028947	AB028947	CCDS32306.1	CCDS32306.1	15q25.1	2007-12-12			2007-12-12				ENSG00000169330		ENSG00000169330				29172	29172	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10470851	10470851	Standard	Standard	NM_015206	NM_015206		Approved		uc002bew.1	uc002bew.1	Q9UPX6	Q9UPX6			ENST00000305428.3:c.2572C>T	15.37:g.79760547C>T	ENSP00000307461:p.Pro858Ser			p.P858S	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			4	2647	+			858		A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2572C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812684	0.70912	.	.	ENSG00000169330	ENST00000305428	T	0.63744	-0.06	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.78898	0.4356	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77088	-0.2717	9	.	.	.	.	19.7863	0.96440	0.0:1.0:0.0:0.0	.	858	Q9UPX6	K1024_HUMAN	S	858	ENSP00000307461:P858S	.	P	+	1	0	0	KIAA1024	77547602	77547602	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	7.456000	0.80751	2.665000	0.90641	0.655000	0.94253	CCA		0.388	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1		41.370463	-15	-15	36	36	NM_015206		13	41.546242	41.546242	18	0.419355	0	0	0	1	0	13	18	0.419355	T	79760547	C	T	79760547	3	4	41	1	0	0	0	0	1	0	0	0	8205	623	22	3	2582	3	KIAA1024	15	79760547	Missense_Mutation	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	45657325	79760547	22770845	20	749											
KRT32	3882	broad.mit.edu	37	17	39620401	39620401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr17:39620401G>A	ENST00000225899.3	-	5	1028	c.925C>T	c.(925-927)Cag>Tag	p.Q309*		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	309	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				ATGTCTGACTGGTAGTTCTGA	0.577																																						ENST00000225899.3											0			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(925-927)Cag>Tag	keratin 32						177	133	148					17																	39620401		2203	4300	6503	SO:0001587	stop_gained	3882			epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39620401G>A	X90761	X90761	CCDS11393.1	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	"-", "Intermediate filaments type I, keratins (acidic)"	6449	6449	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"hard keratin type I"	"hard keratin type I"	602760	602760	"keratin, hair, acidic, 2"	KRTHA2	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	7556444, 8823373, 16831889	Standard	Standard	NM_002278	NM_002278		Approved	Ha-2	uc002hwr.3	uc002hwr.3	Q14532	Q14532	OTTHUMG00000133430	OTTHUMG00000133430	ENST00000225899.3:c.925C>T	17.37:g.39620401G>A	ENSP00000225899:p.Gln309*			p.Q309*	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN			5	1028	-		Breast(137;0.000812)	309	Coil 2.|Rod.		Nonsense_Mutation	SNP	ENST00000225899.3	37	c.925C>T	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	G	36	5.782073	0.96937	.	.	ENSG00000108759	ENST00000225899	.	.	.	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.000000	0.37348	N	0.002139	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	13.4096	0.60935	0.0:0.0:0.8328:0.1672	.	.	.	.	X	309	.	ENSP00000225899:Q309X	Q	-	1	0	0	KRT32	36873927	36873927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.284000	0.43478	2.492000	0.84095	0.655000	0.94253	CAG		0.577	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1		59.819754	7	7	56	56	NM_002278		19	59.946346	59.946346	24	0.44186	0	0	0	1	0	19	24	0.44186	A	39620401	G	A	39620401	4	1	41	1	0	0	0	0	0	1	0	0	8468	1357	47	3	433	3	KRT32	17	39620401	Nonsense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		39620401	41574809	21	750											
MPP3	4356	ucsc.edu	37	17	41909266	41909266	+	Silent	SNP	C	C	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr17:41909266C>A	ENST00000398389.4	-	3	174	c.9G>T	c.(7-9)gtG>gtT	p.V3V	MPP3_ENST00000398393.1_Silent_p.V28V	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	3					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)		CCTCCGATAGCACTGGCATGC	0.587																																																	0																	33	38	37					17																	41909266		1958	4139	6097	SO:0001819	synonymous_variant	4356									CCDS42344.1	CCDS42344.1	17q12-q21	2008-07-18			2008-07-18			ENSG00000161647	ENSG00000161647	ENSG00000161647	ENSG00000161647				7221	7221	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114	601114		DLG3		DLG3		8824795	8824795	Standard	Standard	NR_003562	NR_003562		Approved		uc002iei.4	uc002iei.4	Q13368	Q13368	OTTHUMG00000133838	OTTHUMG00000133838	ENST00000398389.4:c.9G>T	17.37:g.41909266C>A																		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	ENST00000398389.4	37		CCDS42344.1																																																																																									0.587	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1			-5	-5	29	29	NM_001932		4			28							4	28		A	41909266	C	A	41909266	2	1	41	1	0	0	0	0	0	0	0	1	9735	697	25	5		5	MPP3	17	41909266	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	2288865	41909266	39285944	22	751											
RNF43	54894	broad.mit.edu	37	17	56435332	56435332	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr17:56435332T>C	ENST00000584437.1	-	8	3760	c.1805A>G	c.(1804-1806)aAc>aGc	p.N602S	RNF43_ENST00000407977.2_Missense_Mutation_p.N602S|RNF43_ENST00000583753.1_Missense_Mutation_p.N561S|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.N475S|RNF43_ENST00000500597.2_Missense_Mutation_p.N561S|RNF43_ENST00000577625.1_Missense_Mutation_p.N475S|RNF43_ENST00000577716.1_Missense_Mutation_p.N602S			Q68DV7	RNF43_HUMAN	ring finger protein 43	602	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCTGCTGAGTTGGATCTGGT	0.657																																						ENST00000584437.1											0			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1804-1806)aAc>aGc	ring finger protein 43						57	69	65					17																	56435332		2203	4299	6502	SO:0001583	missense	54894				endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435332T>C			CCDS11607.1	CCDS11607.1	17q23.2	2013-01-09			2013-01-09								"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	18505	18505	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612482	612482								Standard	Standard	NM_017763	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	uc002iwh.4	Q68DV7	Q68DV7			ENST00000584437.1:c.1805A>G	17.37:g.56435332T>C	ENSP00000463069:p.Asn602Ser		RNF43_ENST00000577716.1_Missense_Mutation_p.N602S|RNF43_ENST00000500597.2_Missense_Mutation_p.N561S|RNF43_ENST00000577625.1_Missense_Mutation_p.N475S|RNF43_ENST00000583753.1_Missense_Mutation_p.N561S|RNF43_ENST00000581868.1_Missense_Mutation_p.N475S|RNF43_ENST00000407977.2_Missense_Mutation_p.N602S|BZRAP1-AS1_ENST00000583841.1_RNA	p.N602S			Q68DV7	RNF43_HUMAN			8	3760	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		602	Pro-rich.	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1805A>G	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	T	2.674	-0.276978	0.05679	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.16897	2.31;2.31	5.18	-1.62	0.08372	5.18	-1.62	0.08372	.	1.287800	0.04918	N	0.454417	T	0.06872	0.0175	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.27297	-1.0078	10	0.05833	T	0.94	-9.4984	0.8	0.01074	0.1725:0.2915:0.1572:0.3788	.	561;602;602	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	S	602;561	ENSP00000385328:N602S;ENSP00000441969:N561S	ENSP00000385328:N602S	N	-	2	0	0	RNF43	53790331	53790331	0.814000	0.29104	0.003000	0.11579	0.140000	0.21249	0.357000	0.20199	0.006000	0.14734	0.172000	0.16884	AAC		0.657	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1		133.428577	-27	-27	90	90	NM_017763		43	135.021007	135.021007	72	0.373913	0	0	0	1	0	43	72	0.373913	C	56435332	T	C	56435332	3	2	41	1	0	0	0	0	1	0	0	0	13495	1725	60	4	554	4	RNF43	17	56435332	Missense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08	14526066	56435332	24759878	23	752											
NPEPL1	79716	broad.mit.edu	37	20	57276201	57276201	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr20:57276201G>A	ENST00000356091.6	+	6	1097	c.809G>A	c.(808-810)aGc>aAc	p.S270N	NPEPL1_ENST00000525817.1_Missense_Mutation_p.S222N|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.S242N	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	270						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GGAGGCCTCAGCATCAAAGGG	0.687																																						ENST00000356091.6											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(808-810)aGc>aAc	aminopeptidase-like 1						24	24	24					20																	57276201		2037	4189	6226	SO:0001583	missense	79716			proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57276201G>A	AK021645	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			2008-07-02			ENSG00000215440	ENSG00000215440	ENSG00000215440	ENSG00000215440				16244	16244	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										14702039	14702039	Standard	Standard	NM_001204872	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	uc010zzs.1	Q8NDH3	Q8NDH3	OTTHUMG00000033060	OTTHUMG00000033060	ENST00000356091.6:c.809G>A	20.37:g.57276201G>A	ENSP00000348395:p.Ser270Asn		NPEPL1_ENST00000525967.1_Missense_Mutation_p.S242N|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.S222N	p.S270N	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		6	1097	+	all_lung(29;0.0175)		270		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.809G>A	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668192	0.88348	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.48201	0.82;0.82;0.82	5.01	5.01	0.66863	5.01	5.01	0.66863	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;1.0;0.961	D;D;D;P	0.81914	0.985;0.975;0.995;0.835	T	0.65829	-0.6073	10	0.41790	T	0.15	-41.2309	15.4714	0.75441	0.0:0.0:1.0:0.0	.	270;222;242;270	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	N	242;222;270	ENSP00000434810:S242N;ENSP00000437112:S222N;ENSP00000348395:S270N	ENSP00000348395:S270N	S	+	2	0	0	NPEPL1	56709608	56709608	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.375000	0.97178	2.313000	0.78055	0.585000	0.79938	AGC		0.687	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6		16.476751	0	0	10	10	NM_024663		5	16.586418	16.586418	3	0.625	0	0	0	1	0	5	3	0.625	A	57276201	G	A	57276201	3	1	41	1	0	0	0	0	1	0	0	0	10574	971	34	2	677	2	NPEPL1	20	57276201	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		57276201	5749319	24	753											
PEX26	55670	ucsc.edu	37	22	18566443	18566443	+	Silent	SNP	G	G	A			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chr22:18566443G>A	ENST00000329627.7	+	4	818	c.612G>A	c.(610-612)caG>caA	p.Q204Q	PEX26_ENST00000428061.2_Silent_p.Q204Q|PEX26_ENST00000399744.3_Silent_p.Q204Q	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	204					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGCGAGGCAGCAGCAGAAAC	0.577																																																	0																	84	79	81					22																	18566443		2203	4300	6503	SO:0001819	synonymous_variant	55670							AB089678	AB089678	CCDS13750.1, CCDS56221.1	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193	ENSG00000215193	ENSG00000215193				22965	22965	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608666	608666	"peroxisome biogenesis factor 26"		"peroxisome biogenesis factor 26"			12717447, 12851857	12717447, 12851857	Standard	Standard	NM_017929	NM_017929		Approved	FLJ20695	uc002znp.4	uc002znp.4	Q7Z412	Q7Z412	OTTHUMG00000149970	OTTHUMG00000149970	ENST00000329627.7:c.612G>A	22.37:g.18566443G>A																		F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Silent	SNP	ENST00000329627.7	37		CCDS13750.1																																																																																									0.577	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3			-4	-4	47	47	NM_017929		4			33							4	33		A	18566443	G	A	18566443	2	1	41	1	0	0	0	0	0	0	0	1	11746	962	34	2		2	PEX26	22	18566443	Silent	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		18566443	32738123	25	754											
KLHL15	80311	broad.mit.edu	37	X	24007013	24007013	+	Silent	SNP	C	C	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chrX:24007013C>T	ENST00000328046.8	-	4	1095	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	280					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTGTAGTTTGCGGTTTTGCAG	0.433																																						ENST00000328046.8											0			autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(838-840)ccG>ccA	kelch-like family member 15						108	101	103					X																	24007013		2203	4300	6503	SO:0001819	synonymous_variant	80311						g.chrX:24007013C>T	AB051464	AB051464	CCDS35217.1	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010	ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	"Kelch-like", "BTB/POZ domain containing"	29347	29347	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"kelch-like 15 (Drosophila)"		"kelch-like 15 (Drosophila)"			11214970, 14702039	11214970, 14702039	Standard	Standard	NM_030624	NM_030624		Approved	KIAA1677	uc004dba.4	uc004dba.4	Q96M94	Q96M94	OTTHUMG00000021261	OTTHUMG00000021261	ENST00000328046.8:c.840G>A	X.37:g.24007013C>T				p.P280P	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			4	1095	-			280		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	ENST00000328046.8	37	c.840G>A	CCDS35217.1																																																																																									0.433	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1		-28.031389	-9	-9	182	182	XM_040383		4	7.665853	7.665853	141	0.027586	0	0	0	1	0	4	141	0.027586	T	24007013	C	T	24007013	2	4	41	1	0	0	0	0	0	0	0	1	8371	755	27	1		1	KLHL15	23	24007013	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		24007013	131263547	26	755											
THOC2	57187	broad.mit.edu	37	X	122769935	122769935	+	Silent	SNP	G	G	T			TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	g.chrX:122769935G>T	ENST00000245838.8	-	19	2044	c.2013C>A	c.(2011-2013)ggC>ggA	p.G671G	THOC2_ENST00000355725.4_Silent_p.G671G|THOC2_ENST00000491737.1_Silent_p.G556G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	671					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AATACCTTTTGCCCGCCTTTA	0.363																																						ENST00000245838.8											0			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(2011-2013)ggC>ggA	THO complex 2						92	77	81					X																	122769935		1822	4075	5897	SO:0001819	synonymous_variant	57187			intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122769935G>T	AF441770	AF441770	CCDS43988.1	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676	ENSG00000125676	ENSG00000125676		"THO complex subunits"	"THO complex subunits"	19073	19073	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300395	300395	"chromosome X open reading frame 3"	CXorf3	"chromosome X open reading frame 3"	CXorf3		11979277	11979277	Standard	Standard	NM_001081550	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	uc004etu.3	Q8NI27	Q8NI27	OTTHUMG00000022334	OTTHUMG00000022334	ENST00000245838.8:c.2013C>A	X.37:g.122769935G>T			THOC2_ENST00000355725.4_Silent_p.G671G|THOC2_ENST00000491737.1_Silent_p.G556G	p.G671G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			19	2044	-			671		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.2013C>A	CCDS43988.1																																																																																									0.363	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		111.595349	-9	-9	78	78			36	111.607161	111.607161	38	0.486486	1	0	5.43694e-19	1	5.94665e-19	36	38	0.486486	T	122769935	G	T	122769935	2	4	41	1	0	0	0	0	0	0	0	1	15862	1306	46	5		5	THOC2	23	122769935	Silent	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	98762922	122769935	32500625	27	756											
IL28RA	163702	broad.mit.edu	37	1	24484271	24484271	+	Silent	SNP	C	C	T	rs543005854		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:24484271C>T	ENST00000327535.1	-	7	924	c.912G>A	c.(910-912)ccG>ccA	p.P304P	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Silent_p.P275P	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	304					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CTCGAGGCGTCGGCCTGACCC	0.582													C|||	1	0.000199681	0	0	5008	,	,		17275	0		0	False		,,,				2504	0.001					ENST00000327535.1											0										c.(910-912)ccG>ccA	interferon, lambda receptor 1						133	136	135					1																	24484271		2203	4300	6503	SO:0001819	synonymous_variant	163702						g.chr1:24484271C>T	AY129153	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436	ENSG00000185436	ENSG00000185436		"Interferons"	"Interferons"	18584	18584	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	"interferon lambda receptor 1"	607404	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA				Standard	Standard	NM_173064	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	uc001bis.3	Q8IU57	Q8IU57	OTTHUMG00000003036	OTTHUMG00000003036	ENST00000327535.1:c.912G>A	1.37:g.24484271C>T			IFNLR1_ENST00000374421.3_Silent_p.P275P|IFNLR1_ENST00000327575.2_3'UTR	p.P304P	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					7	924	-					Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	c.912G>A	CCDS248.1																																																																																									0.582	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1		150.961079	-39	-39	138	138	NM_170743		46	151.427877	151.427877	33	0.582278	0	0	0	1	0	46	33	0.582278	T	24484271	C	T	24484271	2	4	42	1	0	0	0	0	0	0	0	1	7684	871	31	1		1	IL28RA	1	24484271	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		24484271	224766350	1	757											
IL12RB2	3595	broad.mit.edu	37	1	67845674	67845674	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:67845674C>A	ENST00000262345.1	+	13	2363	c.1723C>A	c.(1723-1725)Ccc>Acc	p.P575T	IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P489T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.P575T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.P575T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	575	Fibronectin type-III 5. {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						TTCAGAAATTCCCTACAGAGT	0.403																																						ENST00000262345.1											0			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(1723-1725)Ccc>Acc	interleukin 12 receptor, beta 2						76	75	76					1																	67845674		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.chr1:67845674C>A	U64198	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			2014-07-15			ENSG00000081985	ENSG00000081985	ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	5972	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601642	601642						9284929, 8943050	9284929, 8943050	Standard	Standard	NM_001559	NM_001559		Approved		uc001ddu.3	uc001ddu.3	Q99665	Q99665	OTTHUMG00000009094	OTTHUMG00000009094	ENST00000262345.1:c.1723C>A	1.37:g.67845674C>A	ENSP00000262345:p.Pro575Thr		IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P489T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.P575T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.P575T	p.P575T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			13	2363	+			575	Fibronectin type-III 5.	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.1723C>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067970	0.36470	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.39	4.48	0.54585	5.39	4.48	0.54585	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.516425	0.19907	N	0.103392	T	0.45337	0.1337	M	0.61703	1.905	0.25770	N	0.984845	D;D;P;D	0.67145	0.982;0.996;0.9;0.982	P;P;B;P	0.61874	0.824;0.895;0.39;0.824	T	0.33854	-0.9852	10	0.10636	T	0.68	-9.2277	10.1953	0.43051	0.0:0.908:0.0:0.092	.	575;489;575;575	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	T	575;575;575;489	ENSP00000262345:P575T;ENSP00000360039:P575T;ENSP00000445276:P575T;ENSP00000442443:P489T	ENSP00000262345:P575T	P	+	1	0	0	IL12RB2	67618262	67618262	0.060000	0.20803	0.980000	0.43619	0.292000	0.27327	0.964000	0.29306	1.420000	0.47138	0.557000	0.71058	CCC		0.403	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2		43.078880	-5	-5	63	63	NM_001559		16	44.936786	44.936786	37	0.301887	1	0	6.49762e-13	1	7.6179e-13	16	37	0.301887	A	67845674	C	A	67845674	3	1	42	1	0	0	0	0	1	0	0	0	7627	855	30	5	1769	5	IL12RB2	1	67845674	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	43361403	67845674	181404947	2	758											
CTTNBP2NL	55917	broad.mit.edu	37	1	112999731	112999731	+	Silent	SNP	T	T	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:112999731T>C	ENST00000271277.6	+	6	1842	c.1617T>C	c.(1615-1617)acT>acC	p.T539T	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	539					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCCAACACTGCCAATCCAA	0.542																																						ENST00000271277.6											0			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1615-1617)acT>acC	CTTNBP2 N-terminal like						147	134	138					1																	112999731		2203	4300	6503	SO:0001819	synonymous_variant	55917				actin cytoskeleton	protein binding	g.chr1:112999731T>C	AB037854	AB037854	CCDS845.1	CCDS845.1	1p13.2	2008-02-05			2008-02-05			ENSG00000143079	ENSG00000143079	ENSG00000143079	ENSG00000143079				25330	25330	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615100	615100						10718198	10718198	Standard	Standard	NM_018704	NM_018704		Approved	DKFZp547A023	uc001ebx.3	uc001ebx.3	Q9P2B4	Q9P2B4	OTTHUMG00000011154	OTTHUMG00000011154	ENST00000271277.6:c.1617T>C	1.37:g.112999731T>C			CTTNBP2NL_ENST00000607039.1_3'UTR	p.T539T	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1842	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	539		B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	c.1617T>C	CCDS845.1																																																																																									0.542	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1		108.759345	-14	-14	82	82	NM_018704		37	109.019271	109.019271	47	0.440476	0	0	0	1	0	37	47	0.440476	C	112999731	T	C	112999731	2	2	42	1	0	0	0	0	0	0	0	1	4046	1567	55	4		4	CTTNBP2NL	1	112999731	Silent	SNP	T	TCGA-VD-A8KD-01A-11D-A39W-08	45154057	112999731	136250890	3	759											
ADAMTS4	9507	broad.mit.edu	37	1	161164004	161164004	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:161164004A>C	ENST00000367996.5	-	5	1697	c.1269T>G	c.(1267-1269)tgT>tgG	p.C423W	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	423	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TGTCTAAGAGACAGTGCCCTG	0.592																																						ENST00000367996.5											0			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1267-1269)tgT>tgG	ADAM metallopeptidase with thrombospondin type 1 motif, 4						43	49	47					1																	161164004		2190	4296	6486	SO:0001583	missense	9507			proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161164004A>C	AB014588	AB014588	CCDS1223.1	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859	ENSG00000158859	ENSG00000158859		"ADAM metallopeptidases with thrombospondin type 1 motif"	"ADAM metallopeptidases with thrombospondin type 1 motif"	220	220	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603876	603876	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"		"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"			10094461	10094461	Standard	Standard	NM_005099	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	uc001fyt.4	O75173	O75173	OTTHUMG00000034349	OTTHUMG00000034349	ENST00000367996.5:c.1269T>G	1.37:g.161164004A>C	ENSP00000356975:p.Cys423Trp		ADAMTS4_ENST00000478394.1_5'UTR	p.C423W	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	1697	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)			Peptidase M12B.	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1269T>G	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.057104	0.55325	.	.	ENSG00000158859	ENST00000367996	D	0.98313	-4.86	5.05	0.184	0.15086	5.05	0.184	0.15086	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000002	D	0.98969	0.9649	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99139	1.0855	10	0.87932	D	0	.	9.5193	0.39124	0.4611:0.0:0.5389:0.0	.	423	O75173	ATS4_HUMAN	W	423	ENSP00000356975:C423W	ENSP00000356975:C423W	C	-	3	2	2	ADAMTS4	159430628	159430628	0.995000	0.38212	0.998000	0.56505	0.909000	0.53808	0.317000	0.19487	0.113000	0.18004	0.459000	0.35465	TGT		0.592	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2		32.081865	-20	-20	52	52	NM_005099		12	33.813059	33.813059	30	0.285714	0	0	0	1	0	12	30	0.285714	C	161164004	A	C	161164004	3	2	42	1	0	0	0	0	1	0	0	0	268	273	10	5	1264	5	ADAMTS4	1	161164004	Missense_Mutation	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08	48164273	161164004	88086617	4	760											
FBLN7	129804	broad.mit.edu	37	2	112942885	112942885	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:112942885G>A	ENST00000331203.2	+	7	1187	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	FBLN7_ENST00000409450.3_Missense_Mutation_p.G260S|FBLN7_ENST00000409903.1_Missense_Mutation_p.G306S|FBLN7_ENST00000409667.3_Missense_Mutation_p.G172S	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	306	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGAGGGCAGCGGCAATGTGAG	0.617																																						ENST00000331203.2											0			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(916-918)Ggc>Agc	fibulin 7						122	103	109					2																	112942885		2203	4300	6503	SO:0001583	missense	129804			cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112942885G>A			CCDS2095.1, CCDS46391.1	CCDS2095.1, CCDS46391.1	2q13	2010-06-15			2010-06-15			ENSG00000144152	ENSG00000144152	ENSG00000144152	ENSG00000144152		"Fibulins"	"Fibulins"	26740	26740	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611551	611551						17699513	17699513	Standard	Standard	NM_153214	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	uc002tho.1	Q53RD9	Q53RD9	OTTHUMG00000153267	OTTHUMG00000153267	ENST00000331203.2:c.916G>A	2.37:g.112942885G>A	ENSP00000331411:p.Gly306Ser		FBLN7_ENST00000409903.1_Missense_Mutation_p.G306S|FBLN7_ENST00000409450.3_Missense_Mutation_p.G260S|FBLN7_ENST00000409667.3_Missense_Mutation_p.G172S	p.G306S	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			7	1187	+			306	EGF-like 3; calcium-binding (Potential).	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.916G>A	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532357	0.64972	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.37	0.171	0.15026	5.37	0.171	0.15026	EGF-like calcium-binding (2);	0.297460	0.42053	N	0.000765	D	0.84361	0.5455	L	0.41824	1.3	0.44627	D	0.997607	B;B;B;D	0.57257	0.056;0.041;0.03;0.979	B;B;B;B	0.43018	0.045;0.027;0.017;0.405	T	0.77923	-0.2406	10	0.15066	T	0.55	-14.0909	6.5848	0.22614	0.2053:0.2385:0.5562:0.0	.	172;260;306;306	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	S	306;306;172;260;200;128	ENSP00000331411:G306S;ENSP00000386295:G306S;ENSP00000386822:G172S;ENSP00000387000:G260S;ENSP00000388025:G200S;ENSP00000272559:G128S	ENSP00000272559:G128S	G	+	1	0	0	FBLN7	112659356	112659356	0.930000	0.31532	0.842000	0.33263	0.977000	0.68977	1.398000	0.34554	0.002000	0.14630	0.561000	0.74099	GGC		0.617	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1		-0.307145	4	4	53	53	NM_153214		3	7.105567	7.105567	37	0.075	0	0	0	1	0	3	37	0.075	A	112942885	G	A	112942885	3	1	42	1	0	0	0	0	1	0	0	0	5701	1116	39	1	942	1	FBLN7	2	112942885	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		112942885	130256488	5	761											
DNER	92737	broad.mit.edu	37	2	230231716	230231716	+	Missense_Mutation	SNP	C	C	T	rs370587377		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:230231716C>T	ENST00000341772.4	-	12	2109	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	659					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAAATCCCCACGATCAGGATG	0.557																																						ENST00000341772.4											0			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1975-1977)Gtg>Atg	delta/notch-like EGF repeat containing	C	MET/VAL	0,4406		0,0,2203	60	49	53		1975	5.8	1	2		53	1,8599		0,1,4299	no	missense	DNER	NM_139072.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	659/738	230231716	1,13005	2203	4300	6503	SO:0001583	missense	92737			central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230231716C>T	AY358891	AY358891	CCDS33390.1	CCDS33390.1	2q36.3	2006-10-26			2006-10-26			ENSG00000187957	ENSG00000187957	ENSG00000187957	ENSG00000187957				24456	24456	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607299	607299						11950833, 11997712	11950833, 11997712	Standard	Standard	NM_139072	NM_139072		Approved	UNQ26, bet	uc002vpv.3	uc002vpv.3	Q8NFT8	Q8NFT8	OTTHUMG00000153637	OTTHUMG00000153637	ENST00000341772.4:c.1975G>A	2.37:g.230231716C>T	ENSP00000345229:p.Val659Met			p.V659M	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	12	2109	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	659		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1975G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929003	0.92389	0.0	1.16E-4	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86366	-2.11	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87795	0.2621	10	0.31617	T	0.26	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	659	Q8NFT8	DNER_HUMAN	M	659;377	ENSP00000345229:V659M	ENSP00000345229:V659M	V	-	1	0	0	DNER	229939960	229939960	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.397000	0.79903	2.760000	0.94817	0.551000	0.68910	GTG		0.557	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1		18.346161	8	8	29	29	NM_139072		6	18.669813	18.669813	11	0.352941	0	0	0	1	0	6	11	0.352941	T	230231716	C	T	230231716	3	4	42	1	0	0	0	0	1	0	0	0	4667	536	19	1	246	1	DNER	2	230231716	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	117288831	230231716	12967657	6	762											
LHFPL4	375323	broad.mit.edu	37	3	9547848	9547848	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr3:9547848C>A	ENST00000287585.6	-	3	731	c.446G>T	c.(445-447)gGc>gTc	p.G149V		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	162						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCATCCCAGCCATCAGGAAA	0.602																																						ENST00000287585.6											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10						c.(445-447)gGc>gTc	lipoma HMGIC fusion partner-like 4						107	94	98					3																	9547848		2203	4300	6503	SO:0001583	missense	375323				integral to membrane		g.chr3:9547848C>A	AY278320	AY278320	CCDS33691.1	CCDS33691.1	3p25.3	2006-06-13			2006-06-13			ENSG00000156959	ENSG00000156959	ENSG00000156959	ENSG00000156959				29568	29568	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610240	610240						15905332	15905332	Standard	Standard	NM_198560	NM_198560		Approved		uc003bry.3	uc003bry.3	Q7Z7J7	Q7Z7J7	OTTHUMG00000155066	OTTHUMG00000155066	ENST00000287585.6:c.446G>T	3.37:g.9547848C>A	ENSP00000287585:p.Gly149Val			p.G149V	NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN			3	731	-	Medulloblastoma(99;0.227)		149		A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	37	c.446G>T	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843562	0.91197	.	.	ENSG00000156959	ENST00000287585	T	0.79845	-1.31	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000003	D	0.91998	0.7465	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.93619	0.6946	10	0.87932	D	0	-18.7726	18.496	0.90865	0.0:1.0:0.0:0.0	.	149	Q7Z7J7	LHPL4_HUMAN	V	149	ENSP00000287585:G149V	ENSP00000287585:G149V	G	-	2	0	0	LHFPL4	9522848	9522848	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.783000	0.85696	2.488000	0.83962	0.591000	0.81541	GGC		0.602	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1		-0.004634	-18	-18	45	45	NM_198560		3	6.612262	6.612262	34	0.081081	1	0	1	1	1	3	34	0.081081	A	9547848	C	A	9547848	3	1	42	1	0	0	0	0	1	0	0	0	8767	739	26	5	305	5	LHFPL4	3	9547848	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		9547848	188474582	7	763											
PRDM8	56978	broad.mit.edu	37	4	81123464	81123464	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr4:81123464T>A	ENST00000504452.1	+	8	1687	c.848T>A	c.(847-849)cTc>cAc	p.L283H	PRDM8_ENST00000415738.2_Missense_Mutation_p.L283H|PRDM8_ENST00000339711.4_Missense_Mutation_p.L283H			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	283	Gly-rich.|Ser-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCCAGAGCCTCAgcagcggt	0.701											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4											0			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(847-849)cTc>cAc	PR domain containing 8						9	12	11					4																	81123464		1528	3569	5097	SO:0001583	missense	56978			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123464T>A	AF275815	AF275815	CCDS43243.1	CCDS43243.1	4q21	2008-08-21			2008-08-21				ENSG00000152784		ENSG00000152784				13993	13993	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_020226	NM_020226		Approved		uc003hmc.4	uc003hmc.4	Q9NQV8	Q9NQV8			ENST00000504452.1:c.848T>A	4.37:g.81123464T>A	ENSP00000423985:p.Leu283His	1203	PRDM8_ENST00000504452.1_Missense_Mutation_p.L283H|PRDM8_ENST00000415738.2_Missense_Mutation_p.L283H	p.L283H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	2079	+			283	Gly-rich.|Ser-rich.	A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.848T>A	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459334	0.63401	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.69175	-0.38;0.18;-0.38;-0.38	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.259050	0.20266	U	0.095775	T	0.56352	0.1979	N	0.19112	0.55	0.09310	N	1	D	0.59767	0.986	P	0.47626	0.552	T	0.52419	-0.8578	10	0.51188	T	0.08	.	11.7849	0.52037	0.0:0.0:0.0:1.0	.	283	Q9NQV8	PRDM8_HUMAN	H	283	ENSP00000423985:L283H;ENSP00000425149:L283H;ENSP00000339764:L283H;ENSP00000406998:L283H	ENSP00000339764:L283H	L	+	2	0	0	PRDM8	81342488	81342488	0.132000	0.22450	0.040000	0.18447	0.655000	0.38815	0.000000	0.12993	1.879000	0.54435	0.260000	0.18958	CTC		0.701	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1		20.923992	-6	-6	14	14			7	20.938448	20.938448	8	0.466667	0	0	0	1	0	7	8	0.466667	A	81123464	T	A	81123464	3	1	42	1	0	0	0	0	1	0	0	0	12462	1551	54	5	858	5	PRDM8	4	81123464	Missense_Mutation	SNP	T	TCGA-VD-A8KD-01A-11D-A39W-08		81123464	110030812	8	764											
GRID2	2895	broad.mit.edu	37	4	94693493	94693493	+	Silent	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr4:94693493C>T	ENST00000282020.4	+	16	3126	c.2868C>T	c.(2866-2868)aaC>aaT	p.N956N	GRID2_ENST00000510992.1_Silent_p.N861N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	956	Interaction with AP4M1. {ECO:0000250}.				cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTTTTGGCAACGTGCCTGAGC	0.468																																						ENST00000282020.4											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2866-2868)aaC>aaT	glutamate receptor, ionotropic, delta 2						83	79	80					4																	94693493		2203	4300	6503	SO:0001819	synonymous_variant	2895			glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693493C>T	AF009014	AF009014	CCDS3637.1, CCDS68758.1	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			2012-08-29			ENSG00000152208	ENSG00000152208	ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	4576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602368	602368						9465309	9465309	Standard	Standard	NM_001510	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	uc011cdt.2	O43424	O43424	OTTHUMG00000130975	OTTHUMG00000130975	ENST00000282020.4:c.2868C>T	4.37:g.94693493C>T			GRID2_ENST00000510992.1_Silent_p.N861N	p.N956N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	3126	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	956	Interaction with AP4M1 (By similarity).	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.2868C>T	CCDS3637.1																																																																																									0.468	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		49.356040	-8	-8	49	49			17	51.003283	51.003283	37	0.314815	0	0	0	1	0	17	37	0.314815	T	94693493	C	T	94693493	2	4	42	1	0	0	0	0	0	0	0	1	6772	535	19	1		1	GRID2	4	94693493	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	13570029	94693493	96460783	9	765											
SEMA5A	9037	hgsc.bcm.edu	37	5	9054213	9054213	+	Missense_Mutation	SNP	G	G	A	rs140400463	byFrequency	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:9054213G>A	ENST00000382496.5	-	19	3340	c.2675C>T	c.(2674-2676)aCg>aTg	p.T892M	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	892	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCAGGGCTGCGTGTTGCAGAG	0.542													G|||	5	0.000998403	8e-04	0.0058	5008	,	,		19248	0		0	False		,,,				2504	0																0												G	MET/THR	0,4406		0,0,2203	78	74	76		2675	5.5	1	5	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SEMA5A	NM_003966.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	892/1075	9054213	2,13004	2203	4300	6503	SO:0001583	missense	9037							U52840	U52840	CCDS3875.1	CCDS3875.1	5p15.2	2008-05-15			2008-05-15			ENSG00000112902	ENSG00000112902	ENSG00000112902	ENSG00000112902		"Semaphorins"	"Semaphorins"	10736	10736	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609297	609297		SEMAF		SEMAF		8817451, 9464278	8817451, 9464278	Standard	Standard	NM_003966	NM_003966		Approved	semF	uc003jek.2	uc003jek.2	Q13591	Q13591	OTTHUMG00000090501	OTTHUMG00000090501	ENST00000382496.5:c.2675C>T	5.37:g.9054213G>A	ENSP00000371936:p.Thr892Met																	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37		CCDS3875.1	3	0.0013736263736263737	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	0	0.0	G	15.53	2.861989	0.51482	0.0	2.33E-4	ENSG00000112902	ENST00000382496	T	0.48836	0.8	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.046532	0.85682	D	0.000000	T	0.55816	0.1944	M	0.63208	1.945	0.51767	D	0.999936	D	0.76494	0.999	D	0.69307	0.963	T	0.53265	-0.8463	10	0.18710	T	0.47	.	17.1979	0.86898	0.0:0.0:1.0:0.0	.	892	Q13591	SEM5A_HUMAN	M	892	ENSP00000371936:T892M	ENSP00000371936:T892M	T	-	2	0	0	SEMA5A	9107213	9107213	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	7.485000	0.81204	2.722000	0.93159	0.561000	0.74099	ACG		0.542	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			9	9	63	63			6			70							6	70		A	9054213	G	A	9054213	3	1	42	1	0	0	0	0	1	0	0	0	14037	1145	40	1	569	1	SEMA5A	5	9054213	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		9054213	171861047	10	766											
SLC22A5	6584	broad.mit.edu	37	5	131714157	131714157	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:131714157G>T	ENST00000245407.3	+	2	702	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	SLC22A5_ENST00000435065.2_Missense_Mutation_p.G185W	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	161					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CTTCATTTCAGGGCAGCTGTC	0.552																																						ENST00000245407.3											0			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(481-483)Ggg>Tgg	solute carrier family 22 (organic cation/carnitine transporter), member 5						220	211	214					5																	131714157		2203	4300	6503	SO:0001583	missense	6584			positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131714157G>T	AF057164	AF057164	CCDS4154.1	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375	ENSG00000197375	ENSG00000197375		"Solute carriers"	"Solute carriers"	10969	10969	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603377	603377		CDSP		CDSP		9618255, 9916797, 9685390	9618255, 9916797, 9685390	Standard	Standard	NM_003060	NM_003060		Approved	OCTN2, SCD	uc003kww.4	uc003kww.4	O76082	O76082	OTTHUMG00000059634	OTTHUMG00000059634	ENST00000245407.3:c.481G>T	5.37:g.131714157G>T	ENSP00000245407:p.Gly161Trp		SLC22A5_ENST00000435065.2_Missense_Mutation_p.G185W	p.G161W	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	702	+		all_cancers(142;0.0751)|Breast(839;0.198)	161		A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.481G>T	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561722	0.65538	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.74002	-0.8;-0.8;-0.8	5.63	5.63	0.86233	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95343	0.8440	10	0.87932	D	0	.	20.0314	0.97540	0.0:0.0:1.0:0.0	.	185;161	A2Q0V1;O76082	.;S22A5_HUMAN	W	161;185;84	ENSP00000245407:G161W;ENSP00000402760:G185W;ENSP00000388838:G84W	ENSP00000245407:G161W	G	+	1	0	0	SLC22A5	131742056	131742056	1.000000	0.71417	0.992000	0.48379	0.269000	0.26545	9.242000	0.95408	2.802000	0.96397	0.561000	0.74099	GGG		0.552	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1		188.258769	-22	-22	159	159	NM_003060		63	190.381284	190.381284	103	0.379518	1	0	3.84483e-29	1	5.02786e-29	63	103	0.379518	T	131714157	G	T	131714157	3	4	42	1	0	0	0	0	1	0	0	0	14457	1000	35	5	487	5	SLC22A5	5	131714157	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08	122659944	131714157	49201103	11	767											
KDM3B	51780	broad.mit.edu	37	5	137750822	137750822	+	Splice_Site	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:137750822G>A	ENST00000314358.5	+	12	3401	c.3201G>A	c.(3199-3201)gaG>gaA	p.E1067E	KDM3B_ENST00000542866.1_Splice_Site_p.E99E|KDM3B_ENST00000394866.1_Splice_Site_p.E723E	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1067					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTATTTCAGAGACAGAAGAGA	0.413																																						ENST00000314358.5											0			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3199-3201)gaG>gaA	lysine (K)-specific demethylase 3B						75	76	76					5																	137750822		2203	4300	6503	SO:0001630	splice_region_variant	51780			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137750822G>A	AF251039	AF251039	CCDS34242.1	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	"Chromatin-modifying enzymes / K-demethylases"	1337	1337	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609373	609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	15138608	Standard	Standard	NM_016604	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	uc003lcy.1	Q7LBC6	Q7LBC6	OTTHUMG00000163469	OTTHUMG00000163469	ENST00000314358.5:c.3200-1G>A	5.37:g.137750822G>A			KDM3B_ENST00000394866.1_Splice_Site_p.E723E|KDM3B_ENST00000542866.1_Splice_Site_p.E99E	p.E1067E	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN			12	3401	+			1067		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Splice_Site	SNP	ENST00000314358.5	37	c.3201G>A	CCDS34242.1																																																																																									0.413	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		17.772859	-14	-14	22	22	NM_016604	Silent	8	21.745908	21.745908	35	0.186047	0	0	0	1	0	8	35	0.186047	A	137750822	G	A	137750822	5	1	42	1	0	0	0	0	0	0	1	0	8127	956	33	3	3247	3	KDM3B	5	137750822	Splice_Site	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08	6036665	137750822	43164438	12	768											
RPL26L1	51121	broad.mit.edu	37	5	172395506	172395506	+	Silent	SNP	C	C	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:172395506C>G	ENST00000521476.1	+	3	337	c.213C>G	c.(211-213)gtC>gtG	p.V71V	RPL26L1_ENST00000265100.2_Silent_p.V71V|RPL26L1_ENST00000519974.1_Silent_p.V71V|RPL26L1_ENST00000519239.1_Silent_p.V71V			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAAGGTAGTCCAGGTGTACA	0.463																																						ENST00000521476.1											0			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(211-213)gtC>gtG	ribosomal protein L26-like 1						201	186	191					5																	172395506		2203	4300	6503	SO:0001819	synonymous_variant	51121			endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172395506C>G	AF083248	AF083248	CCDS4382.1	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241	ENSG00000037241	ENSG00000037241		"L ribosomal proteins"	"L ribosomal proteins"	17050	17050	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"ribosomal protein L26 pseudogene 1"	RPL26P1	"ribosomal protein L26 pseudogene 1"	RPL26P1		11042152	11042152	Standard	Standard	NM_016093	NM_016093		Approved		uc003mcc.3	uc003mcc.3	Q9UNX3	Q9UNX3	OTTHUMG00000130517	OTTHUMG00000130517	ENST00000521476.1:c.213C>G	5.37:g.172395506C>G			RPL26L1_ENST00000519974.1_Silent_p.V71V|RPL26L1_ENST00000519239.1_Silent_p.V71V|RPL26L1_ENST00000265100.2_Silent_p.V71V	p.V71V			Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	337	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	71		B3KY82|D3DQM0	Silent	SNP	ENST00000521476.1	37	c.213C>G	CCDS4382.1																																																																																									0.463	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1		-28.829090	-22	-22	154	154	NM_016093		4	8.017246	8.017246	145	0.026846	0	0	0	1	0	4	145	0.026846	G	172395506	C	G	172395506	2	3	42	1	0	0	0	0	0	0	0	1	13574	842	30	5		5	RPL26L1	5	172395506	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	34644684	172395506	8519754	13	769											
PTK7	5754	broad.mit.edu	37	6	43111198	43111198	+	Silent	SNP	C	C	G	rs373906232		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr6:43111198C>G	ENST00000230419.4	+	14	2312	c.2091C>G	c.(2089-2091)ccC>ccG	p.P697P	PTK7_ENST00000349241.2_Silent_p.P567P|PTK7_ENST00000352931.2_Silent_p.P641P|PTK7_ENST00000481273.1_Silent_p.P705P|PTK7_ENST00000345201.2_Silent_p.P657P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	697					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGCCCTCCCCCCTACAAGA	0.602											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4											0			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2089-2091)ccC>ccG	protein tyrosine kinase 7						74	76	75					6																	43111198		2203	4300	6503	SO:0001819	synonymous_variant	0			actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43111198C>G	AF447176	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	9618	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601890	601890	"PTK7 protein tyrosine kinase 7"		"PTK7 protein tyrosine kinase 7"			7478540	7478540	Standard	Standard	NM_002821	NM_002821		Approved	CCK4	uc011dve.2	uc011dve.2	Q13308	Q13308	OTTHUMG00000014721	OTTHUMG00000014721	ENST00000230419.4:c.2091C>G	6.37:g.43111198C>G		913	PTK7_ENST00000349241.2_Silent_p.P567P|PTK7_ENST00000481273.1_Silent_p.P705P|PTK7_ENST00000345201.2_Silent_p.P657P|PTK7_ENST00000352931.2_Silent_p.P641P	p.P697P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		14	2312	+			697		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.2091C>G	CCDS4884.1																																																																																									0.602	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		72.052668	4	4	94	94			25	73.422614	73.422614	46	0.352113	0	0	0	1	0	25	46	0.352113	G	43111198	C	G	43111198	2	3	42	1	0	0	0	0	0	0	0	1	12765	610	22	5		5	PTK7	6	43111198	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		43111198	128003869	14	770											
CPVL	54504	broad.mit.edu	37	7	29103844	29103844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr7:29103844C>A	ENST00000409850.1	-	15	1616	c.970G>T	c.(970-972)Gag>Tag	p.E324*	CPVL_ENST00000265394.5_Nonsense_Mutation_p.E324*|CPVL_ENST00000396276.3_Nonsense_Mutation_p.E324*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	324						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AGCTGATCCTCAGGTTCCTGG	0.423																																						ENST00000409850.1											0			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(970-972)Gag>Tag	carboxypeptidase, vitellogenic-like						70	72	71					7																	29103844		2203	4300	6503	SO:0001587	stop_gained	54504			proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29103844C>A	AF106704	AF106704	CCDS5419.1	CCDS5419.1	7p15.1	2012-02-10			2012-02-10			ENSG00000106066	ENSG00000106066	ENSG00000106066	ENSG00000106066				14399	14399	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780	609780						11401439	11401439	Standard	Standard	XM_005249786	XM_005249786		Approved		uc003szw.3	uc003szw.3	Q9H3G5	Q9H3G5	OTTHUMG00000023669	OTTHUMG00000023669	ENST00000409850.1:c.970G>T	7.37:g.29103844C>A	ENSP00000387164:p.Glu324*		CPVL_ENST00000265394.5_Nonsense_Mutation_p.E324*|CPVL_ENST00000396276.3_Nonsense_Mutation_p.E324*	p.E324*			Q9H3G5	CPVL_HUMAN			15	1616	-			324		A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Nonsense_Mutation	SNP	ENST00000409850.1	37	c.970G>T	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.080750|7.080750	0.98051|0.98051	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995|ENST00000432534	.|.	.|.	.|.	5.87|5.87	4.05|4.05	0.47172|0.47172	5.87|5.87	4.05|4.05	0.47172|0.47172	.|.	0.222920|.	0.44688|.	D|.	0.000421|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.06236|.	T|.	0.91|.	-20.1695|-20.1695	7.4405|7.4405	0.27181|0.27181	0.1346:0.7223:0.0:0.1431|0.1346:0.7223:0.0:0.1431	.|.	.|.	.|.	.|.	X|L	324;324;324;208|27	.|.	ENSP00000265394:E324X|.	E|X	-|-	1|2	0|2	0|2	CPVL|CPVL	29070369|29070369	29070369|29070369	0.995000|0.995000	0.38212|0.38212	0.997000|0.997000	0.53966|0.53966	0.899000|0.899000	0.52679|0.52679	1.171000|1.171000	0.31896|0.31896	0.915000|0.915000	0.36847|0.36847	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.423	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1		25.964684	1	1	42	42	NM_019029		9	26.757934	26.757934	19	0.321429	1	0	6.40141e-05	1	6.8015e-05	9	19	0.321429	A	29103844	C	A	29103844	4	1	42	1	0	0	0	0	0	1	0	0	3835	835	29	5	472	5	CPVL	7	29103844	Nonsense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		29103844	130034819	15	771											
TNPO3	23534	ucsc.edu	37	7	128694715	128694715	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr7:128694715A>G	ENST00000265388.5	-	1	253	c.110T>C	c.(109-111)cTg>cCg	p.L37P	TNPO3_ENST00000482320.1_5'UTR|TNPO3_ENST00000471234.1_Missense_Mutation_p.L37P|TNPO3_ENST00000393245.1_Missense_Mutation_p.L37P|TNPO3_ENST00000471166.1_Missense_Mutation_p.L37P			Q9Y5L0	TNPO3_HUMAN	transportin 3	37					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CGAACGCTGCAGCTCCCCAAG	0.657																																					Pancreas(147;583 2585 39696 52331)												0																	53	48	50					7																	128694715		2203	4300	6503	SO:0001583	missense	23534							AF145029	AF145029	CCDS5809.1, CCDS55162.1	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			2014-02-03			ENSG00000064419	ENSG00000064419	ENSG00000064419	ENSG00000064419		"Importins"	"Importins"	17103	17103	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"importin 12"	"importin 12"	610032	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	10366588, 10713112, 23543484, 23667635	Standard	Standard	NM_012470	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	uc003vol.2	Q9Y5L0	Q9Y5L0	OTTHUMG00000158409	OTTHUMG00000158409	ENST00000265388.5:c.110T>C	7.37:g.128694715A>G	ENSP00000265388:p.Leu37Pro																	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37		CCDS5809.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.044682	0.93685	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000471234;ENST00000471166	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.51	5.51	0.81932	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.83367	0.5239	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.979;0.98;0.962	D	0.85496	0.1188	10	0.72032	D	0.01	-7.5303	13.8689	0.63605	1.0:0.0:0.0:0.0	.	37;37;37	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	P	37	ENSP00000376936:L37P;ENSP00000265388:L37P;ENSP00000418646:L37P;ENSP00000418267:L37P	ENSP00000265388:L37P	L	-	2	0	0	TNPO3	128481951	128481951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.218000	0.71995	0.533000	0.62120	CTG		0.657	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1			5	5	43	43	NM_012470		4			19							4	19		G	128694715	A	G	128694715	3	3	42	1	0	0	0	0	1	0	0	0	16334	188	7	4	2749	4	TNPO3	7	128694715	Missense_Mutation	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08	99590871	128694715	30443948	16	772											
RPS25	6230	broad.mit.edu	37	11	118888181	118888181	+	Silent	SNP	G	G	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr11:118888181G>C	ENST00000527673.1	-	3	579	c.174C>G	c.(172-174)ctC>ctG	p.L58L	TRAPPC4_ENST00000359005.4_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533632.1_5'Flank|TRAPPC4_ENST00000525303.1_5'Flank|RPS25_ENST00000528547.1_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CTTCCTTACAGAGTTTATCAT	0.463																																						ENST00000527673.1											0			endometrium(1)	1						c.(172-174)ctC>ctG	ribosomal protein S25						50	53	52					11																	118888181		2200	4295	6495	SO:0001819	synonymous_variant	6230			endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888181G>C	M64716	M64716	CCDS8406.1	CCDS8406.1	11q23.3	2011-04-06			2011-04-06			ENSG00000118181	ENSG00000118181	ENSG00000118181	ENSG00000118181		"S ribosomal proteins"	"S ribosomal proteins"	10413	10413	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180465	180465						1748303	1748303	Standard	Standard	NM_001028	NM_001028		Approved	S25	uc001pun.2	uc001pun.2	P62851	P62851	OTTHUMG00000166350	OTTHUMG00000166350	ENST00000527673.1:c.174C>G	11.37:g.118888181G>C				p.L58L	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	3	579	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	58		B2R4M7|P25111	Silent	SNP	ENST00000527673.1	37	c.174C>G	CCDS8406.1																																																																																									0.463	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1		45.375033	-6	-6	66	66	NM_001028		16	47.839408	47.839408	41	0.280702	0	0	0	1	0	16	41	0.280702	C	118888181	G	C	118888181	2	2	42	1	0	0	0	0	0	0	0	1	13636	929	33	5		5	RPS25	11	118888181	Silent	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		118888181	16118335	17	773											
OLFM4	10562	broad.mit.edu	37	13	53624627	53624627	+	Silent	SNP	A	A	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr13:53624627A>G	ENST00000219022.2	+	5	1332	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	418	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTCAGGTGCTAAACACTTGGT	0.433																																						ENST00000219022.2											0			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(1252-1254)ctA>ctG	olfactomedin 4						158	138	145					13																	53624627		2203	4300	6503	SO:0001819	synonymous_variant	10562			cell adhesion	extracellular space		g.chr13:53624627A>G	AY358567	AY358567	CCDS9440.1	CCDS9440.1	13q14	2004-06-25			2004-06-25			ENSG00000102837	ENSG00000102837	ENSG00000102837	ENSG00000102837				17190	17190	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614061	614061								Standard	Standard	NM_006418	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	uc001vhl.3	Q6UX06	Q6UX06	OTTHUMG00000016981	OTTHUMG00000016981	ENST00000219022.2:c.1254A>G	13.37:g.53624627A>G				p.L418L	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1332	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	418	Olfactomedin-like.	O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.1254A>G	CCDS9440.1																																																																																									0.433	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2		-17.720461	4	4	123	123	NM_006418		4	6.771736	6.771736	101	0.038095	0	0	0	1	0	4	101	0.038095	G	53624627	A	G	53624627	2	3	42	1	0	0	0	0	0	0	0	1	10855	349	13	4		4	OLFM4	13	53624627	Silent	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08		53624627	61545251	18	774											
CGNL1	84952	broad.mit.edu	37	15	57837822	57837822	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr15:57837822G>A	ENST00000281282.5	+	17	3611	c.3533G>A	c.(3532-3534)cGg>cAg	p.R1178Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1178						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAACCGGCGGCTGGAGCGG	0.597																																						ENST00000281282.5											0			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(3532-3534)cGg>cAg	cingulin-like 1						50	40	43					15																	57837822		2192	4292	6484	SO:0001583	missense	84952				myosin complex|tight junction	motor activity	g.chr15:57837822G>A	AY274808	AY274808	CCDS10161.1	CCDS10161.1	15q21.3	2011-06-10			2011-06-10			ENSG00000128849	ENSG00000128849	ENSG00000128849	ENSG00000128849				25931	25931	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607856	607856						11214970	11214970	Standard	Standard	NM_001252335	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	uc002aeg.3	Q0VF96	Q0VF96	OTTHUMG00000166485	OTTHUMG00000166485	ENST00000281282.5:c.3533G>A	15.37:g.57837822G>A	ENSP00000281282:p.Arg1178Gln			p.R1178Q	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	17	3611	+			1178		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.3533G>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180297	0.94846	.	.	ENSG00000128849	ENST00000281282	T	0.80304	-1.36	5.39	5.39	0.77823	5.39	5.39	0.77823	Myosin tail (1);	0.000000	0.48767	D	0.000163	D	0.87752	0.6256	L	0.58583	1.82	0.50632	D	0.999888	D	0.65815	0.995	D	0.66602	0.945	D	0.87402	0.2370	10	0.49607	T	0.09	-35.3467	19.1895	0.93658	0.0:0.0:1.0:0.0	.	1178	Q0VF96	CGNL1_HUMAN	Q	1178	ENSP00000281282:R1178Q	ENSP00000281282:R1178Q	R	+	2	0	0	CGNL1	55625114	55625114	1.000000	0.71417	0.954000	0.39281	0.994000	0.84299	4.809000	0.62591	2.526000	0.85167	0.563000	0.77884	CGG		0.597	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2		18.045608	0	0	24	24	NM_032866		6	18.369507	18.369507	11	0.352941	0	0	0	1	0	6	11	0.352941	A	57837822	G	A	57837822	3	1	42	1	0	0	0	0	1	0	0	0	3304	1116	39	1	3595	1	CGNL1	15	57837822	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		57837822	44693570	19	775											
THSD4	79875	broad.mit.edu	37	15	72063481	72063481	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr15:72063481T>G	ENST00000355327.3	+	17	2982	c.2848T>G	c.(2848-2850)Tgt>Ggt	p.C950G	THSD4_ENST00000357769.4_Missense_Mutation_p.C590G|THSD4_ENST00000261862.6_Missense_Mutation_p.C950G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	950	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGTAACCTCTGTGACCCTCA	0.488																																						ENST00000355327.3											0			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2848-2850)Tgt>Ggt	thrombospondin, type I, domain containing 4						158	150	153					15																	72063481		1883	4111	5994	SO:0001583	missense	79875				proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72063481T>G	AK023772	AK023772	CCDS10238.2, CCDS66817.1	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			2009-11-09			ENSG00000187720	ENSG00000187720	ENSG00000187720	ENSG00000187720				25835	25835	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614476	614476						19734141	19734141	Standard	Standard	NM_001286429	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	uc002atb.1	Q6ZMP0	Q6ZMP0	OTTHUMG00000133389	OTTHUMG00000133389	ENST00000355327.3:c.2848T>G	15.37:g.72063481T>G	ENSP00000347484:p.Cys950Gly		THSD4_ENST00000357769.4_Missense_Mutation_p.C590G|THSD4_ENST00000261862.6_Missense_Mutation_p.C950G	p.C950G			Q6ZMP0	THSD4_HUMAN			17	2982	+			950	TSP type-1 6.	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2848T>G	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457252	0.84317	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.69175	-0.38;-0.38;-0.38	5.05	5.05	0.67936	5.05	5.05	0.67936	.	.	.	.	.	D	0.84911	0.5577	H	0.97806	4.08	0.80722	D	1	P;P	0.42296	0.775;0.775	P;P	0.52031	0.688;0.688	D	0.89027	0.3439	9	0.62326	D	0.03	.	12.7715	0.57423	0.0:0.0:0.0:1.0	.	590;950	B4DR13;Q6ZMP0	.;THSD4_HUMAN	G	950;950;590	ENSP00000347484:C950G;ENSP00000261862:C950G;ENSP00000350413:C590G	ENSP00000261862:C950G	C	+	1	0	0	THSD4	69850535	69850535	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.856000	0.86956	1.907000	0.55213	0.455000	0.32223	TGT		0.488	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		154.906130	-25	-25	96	96	NM_024817		51	155.494831	155.494831	69	0.425	0	0	0	1	0	51	69	0.425	G	72063481	T	G	72063481	3	3	42	1	0	0	0	0	1	0	0	0	15875	1580	55	5	2910	5	THSD4	15	72063481	Missense_Mutation	SNP	T	TCGA-VD-A8KD-01A-11D-A39W-08	14225659	72063481	30467911	20	776											
PRKCB	5579	broad.mit.edu	37	16	24196869	24196869	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr16:24196869C>T	ENST00000321728.7	+	15	1878	c.1703C>T	c.(1702-1704)gCt>gTt	p.A568V	PRKCB_ENST00000303531.7_Missense_Mutation_p.A568V	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	568	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCCAAGGAAGCTGTGGCCATC	0.507																																						ENST00000303531.7											0			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1702-1704)gCt>gTt	protein kinase C, beta						145	120	128					16																	24196869		2197	4300	6497	SO:0001583	missense	5579			apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24196869C>T	M13975	M13975	CCDS10618.1, CCDS10619.1	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	ENSG00000166501	ENSG00000166501	2.7.11.1			9395	9395	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176970	176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	3658678	Standard	Standard	NM_002738	NM_002738		Approved		uc002dme.3	uc002dme.3	P05771	P05771	OTTHUMG00000131615	OTTHUMG00000131615	ENST00000321728.7:c.1703C>T	16.37:g.24196869C>T	ENSP00000318315:p.Ala568Val		PRKCB_ENST00000321728.7_Missense_Mutation_p.A568V	p.A568V	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			15	1855	+			568	Protein kinase.	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1703C>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587887	0.96590	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.67698	-0.28;-0.28	5.72	5.72	0.89469	5.72	5.72	0.89469	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	0.79673	0.4486	L	0.53780	1.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.975;0.985	T	0.80016	-0.1559	10	0.87932	D	0	.	19.2318	0.93843	0.0:1.0:0.0:0.0	.	568;568	P05771-2;P05771	.;KPCB_HUMAN	V	568	ENSP00000318315:A568V;ENSP00000305355:A568V	ENSP00000305355:A568V	A	+	2	0	0	PRKCB	24104370	24104370	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.476000	0.81055	2.865000	0.98341	0.655000	0.94253	GCT		0.507	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2		77.903831	-14	-14	61	61	NM_212535		26	78.090137	78.090137	33	0.440678	0	0	0	1	0	26	33	0.440678	T	24196869	C	T	24196869	3	4	42	1	0	0	0	0	1	0	0	0	12508	797	28	2	1761	2	PRKCB	16	24196869	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		24196869	66157884	21	777											
CEP192	55125	broad.mit.edu	37	18	13096255	13096255	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr18:13096255G>T	ENST00000325971.8	+	34	6311	c.4718G>T	c.(4717-4719)tGg>tTg	p.W1573L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.W1694L|CEP192_ENST00000506447.1_Missense_Mutation_p.W2169L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1573					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGCTGTGCTGGCCAGCGCAT	0.483																																						ENST00000506447.1											0			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6505-6507)tGg>tTg	centrosomal protein 192kDa						111	105	107					18																	13096255		2203	4300	6503	SO:0001583	missense	55125						g.chr18:13096255G>T	AK074074	AK074074	CCDS32792.1, CCDS32792.2	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20			2014-02-20				ENSG00000101639		ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	25515	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"	"protein phosphatase 1, regulatory subunit 62"								11230166, 14654843	11230166, 14654843	Standard	Standard	NM_032142	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	uc010xac.2	Q8TEP8	Q8TEP8			ENST00000325971.8:c.4718G>T	18.37:g.13096255G>T	ENSP00000317156:p.Trp1573Leu		CEP192_ENST00000430049.2_Missense_Mutation_p.W1694L|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.W1573L	p.W2169L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			36	6586	+			1764		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6506G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.235481	0.95240	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.56275	0.47;0.47;0.47	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.77189	-0.2679	10	0.87932	D	0	-6.5846	18.9658	0.92695	0.0:0.0:1.0:0.0	.	1694;2169;173;771	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	L	2169;1573;1573;1694;173	ENSP00000427550:W2169L;ENSP00000317156:W1573L;ENSP00000389190:W1694L	ENSP00000317156:W1573L	W	+	2	0	0	CEP192	13086255	13086255	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.035000	0.93752	2.477000	0.83638	0.491000	0.48974	TGG		0.483	CEP192-201	KNOWN	basic	protein_coding	protein_coding			68.205973	-6	-6	56	56	NM_032142		23	69.542764	69.542764	43	0.348485	1	0	1.64293e-13	1	2.06888e-13	23	43	0.348485	T	13096255	G	T	13096255	3	4	42	1	0	0	0	0	1	0	0	0	3251	1357	47	5	6644	5	CEP192	18	13096255	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		13096255	64980993	22	778											
TIMM50	92609	broad.mit.edu	37	19	39971353	39971368	+	5'Flank	DEL	TGCGGCAATCCGCCCG	TGCGGCAATCCGCCCG	-			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr19:39971353_39971368delTGCGGCAATCCGCCCG	ENST00000607714.1	+	0	0				TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000599794.1_5'Flank|TIMM50_ENST00000314349.4_Frame_Shift_Del_p.CGNPPD57fs			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	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;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAAACGCGCCTGCGGCAATCCGCCCGATGCCTTTGG	0.667																																						ENST00000314349.4											0			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(169-186)tgcggcaatccgcccgatfs	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)																																			SO:0001631	upstream_gene_variant	92609			mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39971353_39971368delTGCGGCAATCCGCCCG	BC009072	BC009072	CCDS33023.1	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197	ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	23656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607381	607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"		"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	12437925	Standard	Standard	NM_001001563	NM_001001563		Approved	TIM50L	uc002olu.1	uc002olu.1	Q3ZCQ8	Q3ZCQ8				19.37:g.39971353_39971368delTGCGGCAATCCGCCCG	Exception_encountered			p.CGNPPD57fs	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	302_317	+	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)		33		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Frame_Shift_Del	DEL	ENST00000607714.1	37	c.169_184delTGCGGCAATCCGCCCG																																																																																										0.667	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	.	.	-8	-8	37	37	NM_001001563		6			13	0.32						6	13	0.32	-	39971368	TGCGGCAATCCGCCCG	-	39971353	6	5	42	0	1	1	0	1	0	0	0	0	15910	1580	55	0		0	TIMM50	19	39971353	5'Flank	DEL	TGCGGCAATCCGCCCG	TCGA-VD-A8KD-01A-11D-A39W-08		39971353	19157630	23	779											
PLCB4	5332	broad.mit.edu	37	20	9389753	9389753	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:9389753G>T	ENST00000378493.1	+	20	1903	c.1888G>T	c.(1888-1890)Gat>Tat	p.D630Y	PLCB4_ENST00000378473.3_Missense_Mutation_p.D642Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630Y|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642Y|PLCB4_ENST00000378501.2_Missense_Mutation_p.D630Y			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGGCCGAGTCGATTCCAGTAA	0.448																																						ENST00000378501.2											0			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1888-1890)Gat>Tat	phospholipase C, beta 4						67	57	60					20																	9389753		2203	4300	6503	SO:0001583	missense	5332			intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389753G>T			CCDS13104.1, CCDS13105.1, CCDS54447.1	CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			2008-03-18			ENSG00000101333	ENSG00000101333	ENSG00000101333	ENSG00000101333	3.1.4.11			9059	9059	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600810	600810						8530101	8530101	Standard	Standard	NM_000933	NM_000933		Approved		uc021wam.1	uc021wam.1	Q15147	Q15147	OTTHUMG00000031853	OTTHUMG00000031853	ENST00000378493.1:c.1888G>T	20.37:g.9389753G>T	ENSP00000367754:p.Asp630Tyr		PLCB4_ENST00000334005.3_Missense_Mutation_p.D630Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D630Y	p.D630Y	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			20	1903	+			630	PI-PLC Y-box.	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1888G>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009532	0.93346	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	6.04	6.04	0.98038	6.04	6.04	0.98038	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	H	0.94582	3.555	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;0.965;0.999;0.996	D	0.87247	0.2270	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	642;477;630;630	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	Y	630;642;630;630;630;478	ENSP00000334105:D630Y;ENSP00000367734:D642Y;ENSP00000278655:D630Y;ENSP00000367754:D630Y;ENSP00000367762:D630Y;ENSP00000390616:D478Y	ENSP00000278655:D630Y	D	+	1	0	0	PLCB4	9337753	9337753	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAT		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		87.686951	-32	-32	70	70			28	88.298896	88.298896	42	0.4	1	0	6.38683e-12	1	7.23841e-12	28	42	0.4	T	9389753	G	T	9389753	3	4	42	1	0	0	0	0	1	0	0	0	12030	1058	37	5	2006	5	PLCB4	20	9389753	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		9389753	53635767	24	780	11	2									
PLCB4	5332	broad.mit.edu	37	20	9389754	9389754	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:9389754A>T	ENST00000378493.1	+	20	1904	c.1889A>T	c.(1888-1890)gAt>gTt	p.D630V	PLCB4_ENST00000378473.3_Missense_Mutation_p.D642V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630V|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630V|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642V|PLCB4_ENST00000378501.2_Missense_Mutation_p.D630V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCCGAGTCGATTCCAGTAAT	0.448																																						ENST00000378501.2											0			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1888-1890)gAt>gTt	phospholipase C, beta 4						68	57	61					20																	9389754		2203	4300	6503	SO:0001583	missense	5332			intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389754A>T			CCDS13104.1, CCDS13105.1, CCDS54447.1	CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			2008-03-18			ENSG00000101333	ENSG00000101333	ENSG00000101333	ENSG00000101333	3.1.4.11			9059	9059	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600810	600810						8530101	8530101	Standard	Standard	NM_000933	NM_000933		Approved		uc021wam.1	uc021wam.1	Q15147	Q15147	OTTHUMG00000031853	OTTHUMG00000031853	ENST00000378493.1:c.1889A>T	20.37:g.9389754A>T	ENSP00000367754:p.Asp630Val		PLCB4_ENST00000334005.3_Missense_Mutation_p.D630V|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642V|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630V|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D630V	p.D630V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			20	1904	+			630	PI-PLC Y-box.	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1889A>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.821210	0.90873	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	6.04	6.04	0.98038	6.04	6.04	0.98038	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	H	0.98507	4.25	0.80722	D	1	D;P;D;D	0.76494	0.976;0.765;0.999;0.984	D;P;D;D	0.85130	0.962;0.633;0.997;0.936	D	0.91326	0.5086	10	0.87932	D	0	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	642;477;630;630	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	630;642;630;630;630;478	ENSP00000334105:D630V;ENSP00000367734:D642V;ENSP00000278655:D630V;ENSP00000367754:D630V;ENSP00000367762:D630V;ENSP00000390616:D478V	ENSP00000278655:D630V	D	+	2	0	0	PLCB4	9337754	9337754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	GAT		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		88.258858	-34	-34	69	69			29	88.854359	88.854359	43	0.402778	0	0	0	1	0	29	43	0.402778	T	9389754	A	T	9389754	3	4	42	1	0	0	0	0	1	0	0	0	12030	333	12	5	2007	5	PLCB4	20	9389754	Missense_Mutation	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08	1	9389754	53635766	25	781	11	2									
VAV3	10451	broad.mit.edu	37	1	108116776	108116776	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr1:108116776A>T	ENST00000370056.4	-	26	2669	c.2395T>A	c.(2395-2397)Ttc>Atc	p.F799I	VAV3_ENST00000415432.2_Missense_Mutation_p.F239I|VAV3_ENST00000527011.1_Missense_Mutation_p.F827I|VAV3_ENST00000544443.1_Missense_Mutation_p.F203I|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	799	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTGCACAGAAGTCATACCGA	0.428																																						ENST00000370056.4											0			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(2395-2397)Ttc>Atc	vav 3 guanine nucleotide exchange factor						207	181	190					1																	108116776		2203	4300	6503	SO:0001583	missense	10451			angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108116776A>T	AF118886	AF118886	CCDS785.1, CCDS44181.1	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215	ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	12659	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605541	605541	"vav 3 oncogene"		"vav 3 oncogene"					Standard	Standard	NM_001079874	NM_001079874		Approved		uc001dvk.1	uc001dvk.1	Q9UKW4	Q9UKW4	OTTHUMG00000010995	OTTHUMG00000010995	ENST00000370056.4:c.2395T>A	1.37:g.108116776A>T	ENSP00000359073:p.Phe799Ile		VAV3_ENST00000415432.2_Missense_Mutation_p.F239I|VAV3_ENST00000527011.1_Missense_Mutation_p.F827I|VAV3_ENST00000544443.1_Missense_Mutation_p.F203I|VAV3_ENST00000343258.4_5'UTR	p.F799I	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	26	2669	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	799	SH3 2.	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.2395T>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	A	34	5.356365	0.95854	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	T;T;T;T	0.57273	0.41;2.06;0.41;0.41	6.03	6.03	0.97812	6.03	6.03	0.97812	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.996;0.99	T	0.78471	-0.2191	10	0.87932	D	0	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	827;231;799;239	E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.;.;VAV3_HUMAN;.	I	799;827;203;239	ENSP00000359073:F799I;ENSP00000432540:F827I;ENSP00000446404:F203I;ENSP00000394897:F239I	ENSP00000359073:F799I	F	-	1	0	0	VAV3	107918299	107918299	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.339000	0.96797	2.302000	0.77476	0.533000	0.62120	TTC		0.428	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2		72.084150	-32	-32	70	70	NM_006113		24	72.867536	72.867536	39	0.380952	0	0	0	1	0	24	39	0.380952	T	108116776	A	T	108116776	3	4	43	1	0	0	0	0	1	0	0	0	17130	72	3	5	156	5	VAV3	1	108116776	Missense_Mutation	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		108116776	141133845	1	782											
CR1L	1379	broad.mit.edu	37	1	207850747	207850747	+	Silent	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr1:207850747C>T	ENST00000508064.2	+	2	171	c.111C>T	c.(109-111)gtC>gtT	p.V37V	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	37	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AATGCAATGTCCCGGAATGGC	0.398																																						ENST00000508064.2											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(109-111)gtC>gtT	complement component (3b/4b) receptor 1-like						126	117	120					1																	207850747		1891	4100	5991	SO:0001819	synonymous_variant	1379				cytoplasm|extracellular region|membrane		g.chr1:207850747C>T	AY114160	AY114160	CCDS44310.1	CCDS44310.1	1q32.1	2008-02-05			2008-02-05			ENSG00000197721	ENSG00000197721	ENSG00000197721	ENSG00000197721		"Complement system"	"Complement system"	2335	2335	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605886	605886						2295627	2295627	Standard	Standard	NM_175710	NM_175710		Approved		uc001hga.4	uc001hga.4	Q2VPA4	Q2VPA4	OTTHUMG00000036354	OTTHUMG00000036354	ENST00000508064.2:c.111C>T	1.37:g.207850747C>T			CR1L_ENST00000530905.1_3'UTR	p.V37V	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			2	171	+			37	Sushi 1.	Q32MC9|Q8NEU7	Silent	SNP	ENST00000508064.2	37	c.111C>T	CCDS44310.1																																																																																									0.398	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1		129.376177	-36	-36	78	78	XM_114735		42	129.412995	129.412995	46	0.477273	0	0	0	1	0	42	46	0.477273	T	207850747	C	T	207850747	2	4	43	1	0	0	0	0	0	0	0	1	3841	842	30	3		3	CR1L	1	207850747	Silent	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08	99733971	207850747	41399874	2	783											
TTN	7273	broad.mit.edu	37	2	179446651	179446651	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr2:179446651A>C	ENST00000591111.1	-	265	61746	c.61522T>G	c.(61522-61524)Tat>Gat	p.Y20508D	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y13209D|TTN_ENST00000460472.2_Missense_Mutation_p.Y13084D|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y22149D|TTN_ENST00000342992.6_Missense_Mutation_p.Y19581D|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y13276D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20508	Fibronectin type-III 48. {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)			TCCCGAGCATAAGCGGCCTTG	0.443																																						ENST00000589042.1											0			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						c.(66445-66447)Tat>Gat	titin						74	71	72					2																	179446651		1930	4133	6063	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446651A>C	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.61522T>G	2.37:g.179446651A>C	ENSP00000465570:p.Tyr20508Asp		TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y13209D|TTN_ENST00000460472.2_Missense_Mutation_p.Y13084D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y13276D|TTN_ENST00000591111.1_Missense_Mutation_p.Y20508D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19581D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.Y22149D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		315	66669	-			20508	Fibronectin type-III 60.	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.66445T>G		.	.	.	.	.	.	.	.	.	.	A	11.37	1.618337	0.28801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;0.18;0.14;0.14	5.59	5.59	0.84812	5.59	5.59	0.84812	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44993	0.1320	N	0.08118	0	0.33750	D	0.620507	P;P;D;D	0.56521	0.947;0.947;0.976;0.976	B;B;P;P	0.44597	0.355;0.355;0.454;0.454	T	0.62320	-0.6879	9	0.87932	D	0	.	10.9238	0.47180	0.8601:0.0:0.0:0.1399	.	13084;13209;13276;20508	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	19581;13084;13276;13209;13082	ENSP00000343764:Y19581D;ENSP00000434586:Y13084D;ENSP00000340554:Y13276D;ENSP00000352154:Y13209D	ENSP00000340554:Y13276D	Y	-	1	0	0	TTN	179154897	179154897	0.999000	0.42202	0.923000	0.36655	0.918000	0.54935	3.771000	0.55318	2.131000	0.65755	0.533000	0.62120	TAT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		52.669268	9	9	56	56	NM_133378		17	53.001496	53.001496	25	0.404762	0	0	0	1	0	17	25	0.404762	C	179446651	A	C	179446651	3	2	43	1	0	0	0	0	1	0	0	0	16732	362	13	5	41726	5	TTN	2	179446651	Missense_Mutation	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		179446651	63752722	3	784											
STAB1	23166	broad.mit.edu	37	3	52537488	52537488	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr3:52537488C>T	ENST00000321725.6	+	8	899	c.823C>T	c.(823-825)Cca>Tca	p.P275S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	275					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)		GCCCAAGGACCCATGCACTGA	0.627																																						ENST00000321725.6											0			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						c.(823-825)Cca>Tca	stabilin 1						86	81	82					3																	52537488		2203	4300	6503	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.chr3:52537488C>T	AJ275213	AJ275213	CCDS33768.1	CCDS33768.1	3p21.31	2008-07-18			2008-07-18			ENSG00000010327	ENSG00000010327	ENSG00000010327	ENSG00000010327				18628	18628	protein-coding gene	gene with protein product	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"	"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	608560						11829752, 12077138	11829752, 12077138	Standard	Standard	XM_005264973	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	uc003dej.3	Q9NY15	Q9NY15	OTTHUMG00000158574	OTTHUMG00000158574	ENST00000321725.6:c.823C>T	3.37:g.52537488C>T	ENSP00000312946:p.Pro275Ser			p.P275S	NM_015136.2	NP_055951.2	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)	8	899	+			275		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.823C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829459	0.71258	.	.	ENSG00000010327	ENST00000321725	T	0.10860	2.83	5.58	4.71	0.59529	5.58	4.71	0.59529	.	0.131674	0.51477	N	0.000088	T	0.24314	0.0589	L	0.56340	1.77	0.46521	D	0.999085	D;D	0.71674	0.998;0.996	D;P	0.67103	0.949;0.856	T	0.00624	-1.1639	10	0.52906	T	0.07	.	9.9988	0.41916	0.0:0.9078:0.0:0.0922	.	275;275	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	S	275	ENSP00000312946:P275S	ENSP00000312946:P275S	P	+	1	0	0	STAB1	52512528	52512528	1.000000	0.71417	0.977000	0.42913	0.501000	0.33797	3.763000	0.55257	1.367000	0.46095	0.655000	0.94253	CCA		0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2		3.203404	-6	-6	34	34	NM_015136		3	7.743523	7.743523	26	0.103448	0	0	0	1	0	3	26	0.103448	T	52537488	C	T	52537488	3	4	43	1	0	0	0	0	1	0	0	0	15236	623	22	3	853	3	STAB1	3	52537488	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		52537488	145484942	4	785											
IMPG2	50939	ucsc.edu	37	3	100995550	100995550	+	Silent	SNP	G	G	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr3:100995550G>A	ENST00000193391.7	-	5	728	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	181					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GGAGAAGACAGTTCAGAGCTA	0.333																																																	0																	57	60	59					3																	100995550		2203	4300	6503	SO:0001819	synonymous_variant	50939							AF173155	AF173155	CCDS2940.1	CCDS2940.1	3q12.2-q12.3	2014-01-28			2014-01-28			ENSG00000081148	ENSG00000081148	ENSG00000081148	ENSG00000081148				18362	18362	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607056	607056						10542133	10542133	Standard	Standard	NM_016247	NM_016247		Approved	IPM200, RP56	uc003duq.2	uc003duq.2	Q9BZV3	Q9BZV3	OTTHUMG00000159091	OTTHUMG00000159091	ENST00000193391.7:c.541C>T	3.37:g.100995550G>A																		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37		CCDS2940.1																																																																																									0.333	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			-22	-22	30	30			4			31							4	31		A	100995550	G	A	100995550	2	1	43	1	0	0	0	0	0	0	0	1	7729	1020	36	3		3	IMPG2	3	100995550	Silent	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08	48458062	100995550	97026880	5	786											
PCDH10	57575	broad.mit.edu	37	4	134084205	134084205	+	Silent	SNP	T	T	C			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr4:134084205T>C	ENST00000264360.5	+	4	3697	c.2871T>C	c.(2869-2871)tcT>tcC	p.S957S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	957					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S957S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGATGCCTTCTTTTGTCCCTT	0.493																																						ENST00000264360.5											1	Substitution - coding silent(1)	lung(1)	NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2869-2871)tcT>tcC	protocadherin 10						176	149	158					4																	134084205		2203	4300	6503	SO:0001819	synonymous_variant	57575			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084205T>C	AB037821	AB037821	CCDS34063.1, CCDS75192.1	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26			2010-01-26				ENSG00000138650		ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	"Cadherins / Protocadherins : Non-clustered"	13404	13404	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608286	608286						10835267	10835267	Standard	Standard	NM_020815	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	uc003iha.3	Q9P2E7	Q9P2E7			ENST00000264360.5:c.2871T>C	4.37:g.134084205T>C				p.S957S	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3697	+					Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.2871T>C	CCDS34063.1																																																																																									0.493	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		87.584620	-22	-22	56	56	NM_032961		28	88.363124	88.363124	44	0.388889	0	0	0	1	0	28	44	0.388889	C	134084205	T	C	134084205	2	2	43	1	0	0	0	0	0	0	0	1	11507	1596	56	4		4	PCDH10	4	134084205	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		134084205	57070071	6	787											
LIFR	3977	broad.mit.edu	37	5	38496650	38496650	+	Silent	SNP	T	T	C	rs183990367		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr5:38496650T>C	ENST00000263409.4	-	13	1881	c.1719A>G	c.(1717-1719)gtA>gtG	p.V573V	LIFR_ENST00000453190.2_Silent_p.V573V|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	573	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.V573V(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATGAACACGATACATTGTAGG	0.383			T	PLAG1	salivary adenoma								T|||	1	0.000199681	0	0	5008	,	,		24092	0		0.001	False		,,,				2504	0				Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	2	Substitution - coding silent(2)	breast(2)	NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1717-1719)gtA>gtG	leukemia inhibitory factor receptor alpha						184	157	166					5																	38496650		2203	4300	6503	SO:0001819	synonymous_variant	3977			positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38496650T>C	X61615	X61615	CCDS3927.1	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594	ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	"CD molecules", "Fibronectin type III domain containing"	6597	6597	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			151443	151443	"leukemia inhibitory factor receptor"		"leukemia inhibitory factor receptor"			1915266	1915266	Standard	Standard	NM_001127671	NM_001127671		Approved	CD118	uc003jli.2	uc003jli.2	P42702	P42702	OTTHUMG00000131138	OTTHUMG00000131138	ENST00000263409.4:c.1719A>G	5.37:g.38496650T>C			LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.V573V	p.V573V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			13	1881	-	all_lung(31;0.00021)		573	Fibronectin type-III 4.	Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.1719A>G	CCDS3927.1																																																																																									0.383	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1		119.398576	-3	-3	78	78	NM_002310		36	119.46869	119.46869	41	0.467532	0	0	0	1	0	36	41	0.467532	C	38496650	T	C	38496650	2	2	43	1	0	0	0	0	0	0	0	1	8780	1393	49	4		4	LIFR	5	38496650	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		38496650	142418610	7	788											
F12	2161	broad.mit.edu	37	5	176831398	176831398	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr5:176831398T>A	ENST00000253496.3	-	9	865	c.817A>T	c.(817-819)Atc>Ttc	p.I273F	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	273	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CACGGGCGGATGTCGTTGTCC	0.726									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253496.3											0			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(817-819)Atc>Ttc	coagulation factor XII (Hageman factor)						13	16	15					5																	176831398		2194	4289	6483	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176831398T>A	M31315	M31315	CCDS34302.1	CCDS34302.1	5q35.3	2014-09-17			2014-09-17			ENSG00000131187	ENSG00000131187	ENSG00000131187	ENSG00000131187	3.4.21.38			3530	3530	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610619	610619								Standard	Standard	NM_000505	NM_000505		Approved		uc003mgo.4	uc003mgo.4	P00748	P00748	OTTHUMG00000163403	OTTHUMG00000163403	ENST00000253496.3:c.817A>T	5.37:g.176831398T>A	ENSP00000253496:p.Ile273Phe	1934		p.I273F	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	865	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	273	Kringle.	P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.817A>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285006	0.59867	.	.	ENSG00000131187	ENST00000253496	T	0.66815	-0.23	4.92	2.46	0.29980	4.92	2.46	0.29980	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.804463	0.10753	N	0.638066	T	0.53738	0.1815	L	0.33245	0.995	0.80722	D	1	B	0.32010	0.351	B	0.32149	0.141	T	0.46721	-0.9171	10	0.62326	D	0.03	.	7.0303	0.24962	0.0:0.08:0.1486:0.7714	.	273	P00748	FA12_HUMAN	F	273	ENSP00000253496:I273F	ENSP00000253496:I273F	I	-	1	0	0	F12	176764004	176764004	0.690000	0.27699	0.994000	0.49952	0.916000	0.54674	0.864000	0.27926	0.347000	0.23924	-0.411000	0.06167	ATC		0.726	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1		30.612453	-6	-6	27	27			11	30.984681	30.984681	18	0.37931	0	0	0	1	0	11	18	0.37931	A	176831398	T	A	176831398	3	1	43	1	0	0	0	0	1	0	0	0	5339	1464	51	5	1054	5	F12	5	176831398	Missense_Mutation	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08	138334748	176831398	4083862	8	789											
EFHC1	114327	broad.mit.edu	37	6	52319006	52319006	+	Silent	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr6:52319006C>T	ENST00000371068.5	+	5	940	c.837C>T	c.(835-837)caC>caT	p.H279H	EFHC1_ENST00000433625.2_Silent_p.H188H|EFHC1_ENST00000538167.1_Silent_p.H260H	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	279	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GAGAGGTCCACGAACGGAATG	0.433																																						ENST00000371068.5											0			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(835-837)caC>caT	EF-hand domain (C-terminal) containing 1						187	169	175					6																	52319006		2203	4300	6503	SO:0001819	synonymous_variant	114327				axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52319006C>T	AK001328	AK001328	CCDS4942.1, CCDS55021.1	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			2014-02-04			ENSG00000096093	ENSG00000096093	ENSG00000096093	ENSG00000096093		"EF-hand domain containing"	"EF-hand domain containing"	16406	16406	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"myoclonin-1"	"myoclonin-1"	608815	608815	"epilepsy, juvenile myoclonic 1"	EJM1, EJM	"epilepsy, juvenile myoclonic 1"	EJM1, EJM		15258581	15258581	Standard	Standard	NM_018100	NM_018100		Approved	FLJ10466	uc003pap.4	uc003pap.4	Q5JVL4	Q5JVL4	OTTHUMG00000014848	OTTHUMG00000014848	ENST00000371068.5:c.837C>T	6.37:g.52319006C>T			EFHC1_ENST00000538167.1_Silent_p.H260H|EFHC1_ENST00000433625.2_Silent_p.H188H	p.H279H	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			5	940	+	Lung NSC(77;0.109)		279	DM10 2.	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.837C>T	CCDS4942.1																																																																																									0.433	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2		21.745572	-26	-26	76	76	NM_018100		15	37.985273	37.985273	104	0.12605	0	0	0	1	0	15	104	0.12605	T	52319006	C	T	52319006	2	4	43	1	0	0	0	0	0	0	0	1	4946	535	19	1		1	EFHC1	6	52319006	Silent	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		52319006	118796061	9	790											
QKI	9444	broad.mit.edu	37	6	163899930	163899930	+	Splice_Site	SNP	T	T	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr6:163899930T>A	ENST00000361752.3	+	3	953		c.e3+2		QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000361195.2_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000392127.2_Splice_Site	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AAAAAAAAGGTAAGTCCTTGA	0.348																																						ENST00000361752.3											0			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.e3+2	QKI, KH domain containing, RNA binding						76	77	77					6																	163899930		2203	4300	6503	SO:0001630	splice_region_variant	9444			mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899930T>A	AB067798	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531	ENSG00000112531	ENSG00000112531				21100	21100	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609590	609590	"quaking homolog, KH domain RNA binding (mouse)"		"quaking homolog, KH domain RNA binding (mouse)"			10535969	10535969	Standard	Standard	NM_006775	NM_006775		Approved	QK3	uc003qui.3	uc003qui.3	Q96PU8	Q96PU8	OTTHUMG00000015977	OTTHUMG00000015977	ENST00000361752.3:c.402+2T>A	6.37:g.163899930T>A			QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000392127.2_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000361195.2_Splice_Site		NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	953	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)			Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Splice_Site	SNP	ENST00000361752.3	37		CCDS5285.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515880	0.85495	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544436;ENST00000537041;ENST00000544823	.	.	.	5.45	5.45	0.79879	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.526	0.75905	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	QKI	163819920	163819920	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.568000	0.82369	2.071000	0.62044	0.482000	0.46254	.		0.348	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2		17.173923	1	1	62	62	NM_006775	Intron	14	32.8058	32.8058	99	0.123894	0	0	0	1	0	14	99	0.123894	A	163899930	T	A	163899930	5	1	43	1	0	0	0	0	0	0	1	0	12873	1652	57	5	414	5	QKI	6	163899930	Splice_Site	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08	111580924	163899930	7215137	10	791											
KCNU1	157855	broad.mit.edu	37	8	36692332	36692332	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr8:36692332T>C	ENST00000399881.3	+	12	1278	c.1241T>C	c.(1240-1242)aTa>aCa	p.I414T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	414	RCK N-terminal.				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)			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)		TGCCTGATTATAGCCAATCCT	0.418																																						ENST00000399881.3											0			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1240-1242)aTa>aCa	potassium channel, subfamily U, member 1						123	120	121					8																	36692332		1883	4121	6004	SO:0001583	missense	157855				voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36692332T>C	BC028701	BC028701	CCDS55220.1	CCDS55220.1	8p11.2	2012-07-05			2012-07-05				ENSG00000215262		ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	18867	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615215	615215						16382103	16382103	Standard	Standard	NM_001031836	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	uc010lvw.3	A8MYU2	A8MYU2			ENST00000399881.3:c.1241T>C	8.37:g.36692332T>C	ENSP00000382770:p.Ile414Thr			p.I414T	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	12	1278	+			414	RCK N-terminal.		Missense_Mutation	SNP	ENST00000399881.3	37	c.1241T>C	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635534	0.47049	.	.	ENSG00000215262	ENST00000399881	T	0.68181	-0.31	5.9	5.9	0.94986	5.9	5.9	0.94986	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.444337	0.15220	U	0.274002	T	0.66317	0.2777	L	0.44542	1.39	0.80722	D	1	D	0.57899	0.981	P	0.46479	0.518	T	0.69558	-0.5113	10	0.87932	D	0	2.3529	15.1562	0.72743	0.0:0.0:0.0:1.0	.	414	A8MYU2	KCNU1_HUMAN	T	414	ENSP00000382770:I414T	ENSP00000382770:I414T	I	+	2	0	0	KCNU1	36811490	36811490	1.000000	0.71417	0.933000	0.37362	0.379000	0.30106	7.261000	0.78400	2.251000	0.74343	0.528000	0.53228	ATA		0.418	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		12.363323	-2	-2	19	19	NM_001031836		5	13.865343	13.865343	17	0.227273	0	0	0	1	0	5	17	0.227273	C	36692332	T	C	36692332	3	2	43	1	0	0	0	0	1	0	0	0	8093	1406	49	4	1287	4	KCNU1	8	36692332	Missense_Mutation	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		36692332	109671690	11	792											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		253.576717	-5	-5	107	107	NM_002072		74	255.008887	255.008887	46	0.616667	0	0	0	1	0	74	46	0.616667	G	80409488	T	G	80409488	3	3	43	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		80409488	60803943	12	793											
CPEB3	22849	broad.mit.edu	37	10	93841258	93841258	+	Splice_Site	SNP	A	A	G			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr10:93841258A>G	ENST00000265997.4	-	9	1860	c.1688T>C	c.(1687-1689)gTt>gCt	p.V563A	CPEB3_ENST00000412050.4_Splice_Site_p.V549A	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	563	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TGCCAGTTCAACTGCAAAAAA	0.438																																						ENST00000412050.4											0			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1645-1647)gTt>gCt	cytoplasmic polyadenylation element binding protein 3						54	48	50					10																	93841258		2203	4300	6503	SO:0001630	splice_region_variant	22849					nucleotide binding|RNA binding	g.chr10:93841258A>G	AB023157	AB023157	CCDS31246.1, CCDS53553.1	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			2013-02-12			ENSG00000107864	ENSG00000107864	ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	"RNA binding motif (RRM) containing"	21746	21746	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610606	610606						10231032, 12672660	10231032, 12672660	Standard	Standard	NM_014912	NM_014912		Approved	KIAA0940	uc001khw.2	uc001khw.2	Q8NE35	Q8NE35	OTTHUMG00000018756	OTTHUMG00000018756	ENST00000265997.4:c.1688-1T>C	10.37:g.93841258A>G			CPEB3_ENST00000265997.4_Splice_Site_p.V563A	p.V549A	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			9	1734	-		Colorectal(252;0.0869)	563	RRM 2.	Q5T389|Q9NQJ7|Q9Y2E9	Splice_Site	SNP	ENST00000265997.4	37	c.1646T>C	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.102857	0.56183	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.21031	2.03;2.03	5.68	5.68	0.88126	5.68	5.68	0.88126	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	N	0.19112	0.55	0.80722	D	1	B;B;P	0.35872	0.004;0.39;0.525	B;B;B	0.37780	0.008;0.132;0.258	T	0.08126	-1.0737	10	0.27082	T	0.32	.	15.9299	0.79651	1.0:0.0:0.0:0.0	.	563;549;549	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	A	549;549;563	ENSP00000398310:V549A;ENSP00000265997:V563A	ENSP00000265997:V563A	V	-	2	0	0	CPEB3	93831238	93831238	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	9.339000	0.96797	2.162000	0.67917	0.460000	0.39030	GTT		0.438	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2		47.622264	-12	-12	40	40	NM_014912	Missense_Mutation	15	47.724439	47.724439	19	0.441176	0	0	0	1	0	15	19	0.441176	G	93841258	A	G	93841258	5	3	43	1	0	0	0	0	0	0	1	0	3802	57	2	4	416	4	CPEB3	10	93841258	Splice_Site	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		93841258	41693489	13	794											
KBTBD4	55709	broad.mit.edu	37	11	47594939	47594939	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr11:47594939G>A	ENST00000526005.1	-	4	1253	c.1100C>T	c.(1099-1101)gCt>gTt	p.A367V	KBTBD4_ENST00000533290.1_Missense_Mutation_p.A392V|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A367V|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A383V|PTPMT1_ENST00000527079.2_3'UTR			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	367										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCCTGACACAGCCACCTCTAG	0.512																																						ENST00000533290.1											0			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(1174-1176)gCt>gTt	kelch repeat and BTB (POZ) domain containing 4						90	89	89					11																	47594939		2201	4298	6499	SO:0001583	missense	55709						g.chr11:47594939G>A	AF151086	AF151086	CCDS7940.1, CCDS44594.1	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444	ENSG00000123444	ENSG00000123444		"BTB/POZ domain containing"	"BTB/POZ domain containing"	23761	23761	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"BTB and kelch domain containing 4"	BKLHD4	"BTB and kelch domain containing 4"	BKLHD4		11042152	11042152	Standard	Standard	NM_018095	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	uc001nfz.3	Q9NVX7	Q9NVX7	OTTHUMG00000166894	OTTHUMG00000166894	ENST00000526005.1:c.1100C>T	11.37:g.47594939G>A	ENSP00000433340:p.Ala367Val		PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A367V|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A367V|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A383V	p.A392V			Q9NVX7	KBTB4_HUMAN			3	1889	-			367		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.1175C>T	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916031	0.92178	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.8	5.8	0.92144	5.8	5.8	0.92144	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	L	0.49778	1.585	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.993	D;D;D	0.72338	0.941;0.977;0.942	T	0.76825	-0.2816	10	0.45353	T	0.12	-13.8469	20.0479	0.97616	0.0:0.0:1.0:0.0	.	383;367;392	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	V	367;392;367;383	ENSP00000433340:A367V;ENSP00000436713:A392V;ENSP00000378703:A367V;ENSP00000415106:A383V	ENSP00000378703:A367V	A	-	2	0	0	KBTBD4	47551515	47551515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.736000	0.93811	0.563000	0.77884	GCT		0.512	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1		-10.174693	-7	-7	85	85	NM_016506		4	6.526016	6.526016	74	0.051282	0	0	0	1	0	4	74	0.051282	A	47594939	G	A	47594939	3	1	43	1	0	0	0	0	1	0	0	0	7995	971	34	2	460	2	KBTBD4	11	47594939	Missense_Mutation	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08		47594939	87411577	14	795											
TECTA	7007	broad.mit.edu	37	11	120980087	120980087	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr11:120980087G>T	ENST00000392793.1	+	4	637	c.366G>T	c.(364-366)ttG>ttT	p.L122F	TECTA_ENST00000264037.2_Missense_Mutation_p.L122F			O75443	TECTA_HUMAN	tectorin alpha	122	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGCCATCTTGAAAAGAGCCA	0.488																																						ENST00000392793.1											0			NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(364-366)ttG>ttT	tectorin alpha						102	101	101					11																	120980087		2203	4299	6502	SO:0001583	missense	7007			cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120980087G>T	AF055136	AF055136	CCDS8434.1	CCDS8434.1	11q22-q24	2008-02-05			2008-02-05			ENSG00000109927	ENSG00000109927	ENSG00000109927	ENSG00000109927				11720	11720	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602574	602574		DFNA12, DFNA8, DFNB21		DFNA12, DFNA8, DFNB21		9503015, 9590290	9503015, 9590290	Standard	Standard	NM_005422	NM_005422		Approved		uc010rzo.2	uc010rzo.2	O75443	O75443	OTTHUMG00000149908	OTTHUMG00000149908	ENST00000392793.1:c.366G>T	11.37:g.120980087G>T	ENSP00000376543:p.Leu122Phe		TECTA_ENST00000264037.2_Missense_Mutation_p.L122F	p.L122F			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	4	637	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	122	NIDO.		Missense_Mutation	SNP	ENST00000392793.1	37	c.366G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183077	0.57800	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.51817	0.69;0.69	5.57	4.6	0.57074	5.57	4.6	0.57074	Nidogen, extracellular domain (2);	0.000000	0.64402	D	0.000002	T	0.76673	0.4020	M	0.93375	3.41	0.39632	D	0.970184	D	0.71674	0.998	D	0.83275	0.996	D	0.84265	0.0485	10	0.87932	D	0	.	16.8119	0.85724	0.0:0.2202:0.7798:0.0	.	122	O75443	TECTA_HUMAN	F	122	ENSP00000376543:L122F;ENSP00000264037:L122F	ENSP00000264037:L122F	L	+	3	2	2	TECTA	120485297	120485297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.782000	0.38654	2.630000	0.89119	0.655000	0.94253	TTG		0.488	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		-1.108041	-11	-11	39	39	NM_005422		3	6.306865	6.306865	37	0.075	1	0	1	1	1	3	37	0.075	T	120980087	G	T	120980087	3	4	43	1	0	0	0	0	1	0	0	0	15744	1281	45	5	376	5	TECTA	11	120980087	Missense_Mutation	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08	73385148	120980087	14026429	15	796											
MYF6	4618	broad.mit.edu	37	12	81101600	81101600	+	Silent	SNP	T	T	C			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr12:81101600T>C	ENST00000228641.3	+	1	324	c.102T>C	c.(100-102)taT>taC	p.Y34Y		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	34					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CTCCTTTGTATCCAGGGAGTG	0.557																																						ENST00000228641.3											0			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(100-102)taT>taC	myogenic factor 6 (herculin)						87	89	88					12																	81101600		2203	4300	6503	SO:0001819	synonymous_variant	4618			muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101600T>C			CCDS9019.1	CCDS9019.1	12q21	2013-05-21			2013-05-21				ENSG00000111046		ENSG00000111046		"Basic helix-loop-helix proteins"	"Basic helix-loop-helix proteins"	7566	7566	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	"muscle-specific regulatory factor 4"	159991	159991						8978788	8978788	Standard	Standard	NM_002469	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	uc001szf.2	P23409	P23409			ENST00000228641.3:c.102T>C	12.37:g.81101600T>C				p.Y34Y	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	324	+			34		B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.102T>C	CCDS9019.1																																																																																									0.557	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1		-4.053838	9	9	70	70	NM_002469		4	8.715564	8.715564	60	0.0625	0	0	0	1	0	4	60	0.0625	C	81101600	T	C	81101600	2	2	43	1	0	0	0	0	0	0	0	1	10028	1442	50	4		4	MYF6	12	81101600	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		81101600	52750295	16	797											
RAB20	55647	broad.mit.edu	37	13	111176287	111176287	+	Silent	SNP	T	T	G			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr13:111176287T>G	ENST00000267328.3	-	2	643	c.430A>C	c.(430-432)Agg>Cgg	p.R144R		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	144					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			TTAGGTGCCCTTGGGGAGACA	0.592																																						ENST00000267328.3											0			endometrium(2)|large_intestine(2)|lung(3)	7						c.(430-432)Agg>Cgg	RAB20, member RAS oncogene family						63	60	61					13																	111176287		2203	4300	6503	SO:0001819	synonymous_variant	55647			protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr13:111176287T>G	AK000436	AK000436	CCDS9512.1	CCDS9512.1	13q34	2008-07-18			2008-07-18			ENSG00000139832	ENSG00000139832	ENSG00000139832	ENSG00000139832		"RAB, member RAS oncogene"	"RAB, member RAS oncogene"	18260	18260	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11697911	11697911	Standard	Standard	NM_017817	NM_017817		Approved	FLJ20429	uc001vqy.3	uc001vqy.3	Q9NX57	Q9NX57	OTTHUMG00000017343	OTTHUMG00000017343	ENST00000267328.3:c.430A>C	13.37:g.111176287T>G				p.R144R	NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)		2	643	-	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		144		Q5T9X5|Q9NX49	Silent	SNP	ENST00000267328.3	37	c.430A>C	CCDS9512.1																																																																																									0.592	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2		63.610799	1	1	71	71	NM_017817		22	63.950602	63.950602	31	0.415094	0	0	0	1	0	22	31	0.415094	G	111176287	T	G	111176287	2	3	43	1	0	0	0	0	0	0	0	1	12907	1608	56	5		5	RAB20	13	111176287	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		111176287	3993591	17	798											
TPPP2	122664	broad.mit.edu	37	14	21498873	21498873	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr14:21498873G>A	ENST00000321760.6	+	2	281	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.V45I|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000460647.2_Missense_Mutation_p.V45I|RP11-998D10.1_ENST00000531638.1_5'Flank	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	45						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGGCAAGACAGTCACCTCCAC	0.507																																						ENST00000321760.6											0			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(133-135)Gtc>Atc	tubulin polymerization-promoting protein family member 2						98	71	80					14																	21498873		2203	4300	6503	SO:0001583	missense	122664				cytoplasm		g.chr14:21498873G>A	AY072034	AY072034	CCDS9566.1	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636	ENSG00000179636	ENSG00000179636				19293	19293	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 14 open reading frame 8"	C14orf8	"chromosome 14 open reading frame 8"	C14orf8		15590652, 17105200	15590652, 17105200	Standard	Standard	NM_173846	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	uc001vzh.3	P59282	P59282	OTTHUMG00000029642	OTTHUMG00000029642	ENST00000321760.6:c.133G>A	14.37:g.21498873G>A	ENSP00000317595:p.Val45Ile		TPPP2_ENST00000460647.2_Missense_Mutation_p.V45I|TPPP2_ENST00000530140.2_Missense_Mutation_p.V45I|NDRG2_ENST00000403829.3_Intron	p.V45I	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	281	+	all_cancers(95;0.000759)		45		Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.133G>A	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543732	0.27563	.	.	ENSG00000179636	ENST00000321760;ENST00000460647;ENST00000530140;ENST00000472458;ENST00000481535	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.37	3.16	0.36331	5.37	3.16	0.36331	.	0.065286	0.64402	D	0.000010	T	0.23572	0.0570	N	0.20401	0.57	0.45837	D	0.998709	B	0.13145	0.007	B	0.22753	0.041	T	0.04693	-1.0933	10	0.10902	T	0.67	-30.2782	8.2739	0.31860	0.231:0.0:0.769:0.0	.	45	P59282	TPPP2_HUMAN	I	45;45;45;45;40	ENSP00000317595:V45I;ENSP00000427504:V45I;ENSP00000435356:V45I;ENSP00000423171:V45I;ENSP00000421438:V40I	ENSP00000317595:V45I	V	+	1	0	0	TPPP2	20568713	20568713	1.000000	0.71417	0.858000	0.33744	0.788000	0.44548	3.417000	0.52714	1.394000	0.46624	0.655000	0.94253	GTC		0.507	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3		31.648567	-9	-9	32	32	NM_173846		10	31.658942	31.658942	11	0.47619	0	0	0	1	0	10	11	0.47619	A	21498873	G	A	21498873	3	1	43	1	0	0	0	0	1	0	0	0	16411	1029	36	3	135	3	TPPP2	14	21498873	Missense_Mutation	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08		21498873	85850667	18	799											
C14orf39	317761	broad.mit.edu	37	14	60933673	60933673	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr14:60933673C>T	ENST00000321731.3	-	10	1016	c.857G>A	c.(856-858)aGa>aAa	p.R286K		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	286					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CTTTATTGGTCTTACTAATTT	0.289																																						ENST00000321731.3											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(856-858)aGa>aAa	chromosome 14 open reading frame 39						73	73	73					14																	60933673		2201	4289	6490	SO:0001583	missense	317761						g.chr14:60933673C>T	AK098187	AK098187	CCDS9746.1	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008	ENSG00000179008	ENSG00000179008				19849	19849	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_174978	NM_174978		Approved	SIX6OS1	uc001xez.4	uc001xez.4	Q8N1H7	Q8N1H7	OTTHUMG00000140332	OTTHUMG00000140332	ENST00000321731.3:c.857G>A	14.37:g.60933673C>T	ENSP00000324920:p.Arg286Lys			p.R286K	NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	10	1016	-			286		Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.857G>A	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	c	3.836	-0.034856	0.07543	.	.	ENSG00000179008	ENST00000321731	T	0.23147	1.92	5.29	1.19	0.21007	5.29	1.19	0.21007	.	0.372941	0.26832	N	0.022280	T	0.11410	0.0278	N	0.20401	0.57	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.37267	-0.9713	10	0.02654	T	1	-10.7321	7.5133	0.27585	0.0:0.6202:0.0:0.3798	.	286	Q8N1H7	S6OS1_HUMAN	K	286	ENSP00000324920:R286K	ENSP00000324920:R286K	R	-	2	0	0	C14orf39	60003426	60003426	0.957000	0.32711	0.019000	0.16419	0.078000	0.17371	0.704000	0.25661	0.314000	0.23086	-0.244000	0.11960	AGA		0.289	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1		0.361762	-5	-5	28	28	NM_174978		4	8.57147	8.57147	43	0.085106	0	0	0	1	0	4	43	0.085106	T	60933673	C	T	60933673	3	4	43	1	0	0	0	0	1	0	0	0	1772	913	32	3	942	3	C14orf39	14	60933673	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08	39434800	60933673	46415867	19	800											
CWC25	54883	broad.mit.edu	37	17	36971161	36971161	+	Silent	SNP	A	A	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr17:36971161A>T	ENST00000225428.5	-	3	678	c.381T>A	c.(379-381)ctT>ctA	p.L127L	CWC25_ENST00000536127.1_Silent_p.L64L	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	127										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCATGTCAAGAAGGGAATTGG	0.512																																						ENST00000225428.5											0			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(379-381)ctT>ctA	CWC25 spliceosome-associated protein homolog (S. cerevisiae)						59	60	60					17																	36971161		1912	4126	6038	SO:0001819	synonymous_variant	54883						g.chr17:36971161A>T	AK000298	AK000298	CCDS45663.1	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559		ENSG00000273559				25989	25989	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"coiled-coil domain containing 49"	CCDC49	"coiled-coil domain containing 49"	CCDC49		19941820	19941820	Standard	Standard	NM_017748	NM_017748		Approved	FLJ20291	uc002hqu.4	uc002hqu.4	Q9NXE8	Q9NXE8			ENST00000225428.5:c.381T>A	17.37:g.36971161A>T			CWC25_ENST00000536127.1_Silent_p.L64L	p.L127L	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			3	678	-					A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	c.381T>A	CCDS45663.1																																																																																									0.512	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6		14.136289	-20	-20	24	24	NM_017748		6	15.863596	15.863596	20	0.230769	0	0	0	1	0	6	20	0.230769	T	36971161	A	T	36971161	2	4	43	1	0	0	0	0	0	0	0	1	4069	233	9	5		5	CWC25	17	36971161	Silent	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		36971161	44224049	20	801											
COG1	9382	broad.mit.edu	37	17	71193207	71193207	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr17:71193207C>G	ENST00000299886.4	+	3	809	c.729C>G	c.(727-729)aaC>aaG	p.N243K	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	243					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AACTTCTCAACCAGCCACACC	0.532																																						ENST00000299886.4											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(727-729)aaC>aaG	component of oligomeric golgi complex 1						38	42	41					17																	71193207		2203	4300	6503	SO:0001583	missense	9382			Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71193207C>G			CCDS11692.1	CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		ENSG00000166685		"Components of oligomeric golgi complex"	"Components of oligomeric golgi complex"	6545	6545	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606973	606973	"low density lipoprotein receptor defect B complementing"	LDLB	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	9927668	Standard	Standard	NM_018714	NM_018714		Approved	KIAA1381	uc002jjg.3	uc002jjg.3	Q8WTW3	Q8WTW3			ENST00000299886.4:c.729C>G	17.37:g.71193207C>G	ENSP00000299886:p.Asn243Lys			p.N243K	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	809	+			243		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.729C>G	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.462976	0.26248	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.22945	1.93;1.93	5.62	0.745	0.18359	5.62	0.745	0.18359	.	0.097977	0.64402	D	0.000002	T	0.19127	0.0459	L	0.57536	1.79	0.58432	D	0.99999	B;B;B	0.29085	0.232;0.148;0.232	B;B;B	0.32342	0.144;0.075;0.144	T	0.09684	-1.0663	10	0.06099	T	0.92	-13.5482	7.4234	0.27085	0.1166:0.6138:0.0:0.2696	.	243;243;243	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	K	243	ENSP00000400111:N243K;ENSP00000299886:N243K	ENSP00000299886:N243K	N	+	3	2	2	COG1	68704802	68704802	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.880000	0.39628	0.305000	0.22832	-0.768000	0.03414	AAC		0.532	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1		49.391623	-9	-9	40	40			16	49.823964	49.823964	25	0.390244	0	0	0	1	0	16	25	0.390244	G	71193207	C	G	71193207	3	3	43	1	0	0	0	0	1	0	0	0	3657	506	18	5	739	5	COG1	17	71193207	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08	34222046	71193207	10002003	21	802											
ACOX1	51	broad.mit.edu	37	17	73942871	73942871	+	Silent	SNP	G	G	A			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr17:73942871G>A	ENST00000301608.4	-	14	2001	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	ACOX1_ENST00000537812.1_Silent_p.H609H|RP11-552F3.13_ENST00000587348.1_RNA|ACOX1_ENST00000293217.5_Silent_p.H647H	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	647					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TGTAAGATTCGTGGACCTGTG	0.378																																						ENST00000537812.1											0			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(1825-1827)caC>caT	acyl-CoA oxidase 1, palmitoyl						89	85	86					17																	73942871		2203	4300	6503	SO:0001819	synonymous_variant	51			fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73942871G>A	U03254	U03254	CCDS11734.1, CCDS11735.1	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	ENSG00000161533	ENSG00000161533	1.3.3.6			119	119	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609751	609751	"acyl-Coenzyme A oxidase 1, palmitoyl"		"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	8159712	Standard	Standard	NM_007292	NM_007292		Approved	PALMCOX	uc002jqe.3	uc002jqe.3	Q15067	Q15067	OTTHUMG00000180027	OTTHUMG00000180027	ENST00000301608.4:c.1941C>T	17.37:g.73942871G>A			ACOX1_ENST00000301608.4_Silent_p.H647H|ACOX1_ENST00000293217.5_Silent_p.H647H	p.H609H	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN			14	2475	-			647		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	ENST00000301608.4	37	c.1827C>T	CCDS11735.1																																																																																									0.378	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1		7.748682	-9	-9	35	35			5	12.761347	12.761347	33	0.131579	0	0	0	1	0	5	33	0.131579	A	73942871	G	A	73942871	2	1	43	1	0	0	0	0	0	0	0	1	158	1136	40	1		1	ACOX1	17	73942871	Silent	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08	2749664	73942871	7252339	22	803											
OSBPL1A	114876	broad.mit.edu	37	18	21746564	21746564	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr18:21746564C>T	ENST00000319481.3	-	26	2844	c.2638G>A	c.(2638-2640)Gcc>Acc	p.A880T	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.A367T|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.A498T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	880					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTTCCATGGCTCTGATGTCA	0.428																																						ENST00000319481.3											0			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2638-2640)Gcc>Acc	oxysterol binding protein-like 1A						216	189	198					18																	21746564		2203	4300	6503	SO:0001583	missense	114876			cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21746564C>T	AF392449, AF274714	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	16398	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606730	606730	"oxysterol binding protein-like 1B"	OSBPL1B	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	11279184, 10588946	Standard	Standard	NM_080597	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	uc002kve.3	Q9BXW6	Q9BXW6	OTTHUMG00000131944	OTTHUMG00000131944	ENST00000319481.3:c.2638G>A	18.37:g.21746564C>T	ENSP00000320291:p.Ala880Thr		OSBPL1A_ENST00000357041.4_Missense_Mutation_p.A498T|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.A367T	p.A880T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			26	2844	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		880		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.2638G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577381	0.86645	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.37235	1.21;1.21;1.21	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71414	-0.4600	10	0.23302	T	0.38	-16.6041	19.7395	0.96220	0.0:1.0:0.0:0.0	.	880	Q9BXW6	OSBL1_HUMAN	T	880;367;498	ENSP00000320291:A880T;ENSP00000382372:A367T;ENSP00000349545:A498T	ENSP00000320291:A880T	A	-	1	0	0	OSBPL1A	20000562	20000562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.740000	0.84986	2.737000	0.93849	0.585000	0.79938	GCC		0.428	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1		-13.571071	-44	-44	99	99	NM_080597		4	7.255512	7.255512	89	0.043011	0	0	0	1	0	4	89	0.043011	T	21746564	C	T	21746564	3	4	43	1	0	0	0	0	1	0	0	0	11277	797	28	2	226	2	OSBPL1A	18	21746564	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		21746564	56330684	23	804											
PVR	5817	broad.mit.edu	37	19	45147435	45147435	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr19:45147435delG	ENST00000425690.3	+	1	338	c.39delG	c.(37-39)ctgfs	p.L13fs	PVR_ENST00000403059.4_Frame_Shift_Del_p.L13fs|PVR_ENST00000344956.4_Frame_Shift_Del_p.L13fs|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Frame_Shift_Del_p.L13fs	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	13					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CGCTGCTGCTGGTGGCGCTAC	0.751																																						ENST00000425690.3											0			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(37-39)ctgfs	poliovirus receptor						7	9	8					19																	45147435		2039	4002	6041	SO:0001589	frameshift_variant	5817			adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45147435delG	BC015542	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			2013-01-29			ENSG00000073008	ENSG00000073008	ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	9705	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nectin-like 5"	"nectin-like 5"	173850	173850		PVS		PVS		2170108	2170108	Standard	Standard	XM_005259120	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	uc002ozm.3	P15151	P15151	OTTHUMG00000151527	OTTHUMG00000151527	ENST00000425690.3:c.39delG	19.37:g.45147435delG	ENSP00000402060:p.Leu13fs		PVR_ENST00000406449.4_Frame_Shift_Del_p.L13fs|PVR_ENST00000344956.4_Frame_Shift_Del_p.L13fs|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Frame_Shift_Del_p.L13fs	p.L13fs	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN		Epithelial(262;0.000601)	1	338	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	13		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Frame_Shift_Del	DEL	ENST00000425690.3	37	c.39delG	CCDS12640.1																																																																																									0.751	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	.	.	3	3	4	4	NM_006505		2			4	0.33						2	4	0.33	-	45147435	G	-	45147435	7	5	43	1	0	1	0	1	0	0	0	0	12837	1335	47	0	41	0	PVR	19	45147435	Frame_Shift_Del	DEL	G	TCGA-VD-A8KE-01A-11D-A39W-08		45147435	13981548	24	805											
BMP7	655	broad.mit.edu	37	20	55758828	55758828	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chr20:55758828C>T	ENST00000395863.3	-	4	1413	c.908G>A	c.(907-909)cGc>cAc	p.R303H	BMP7_ENST00000450594.2_Missense_Mutation_p.R303H|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	303					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CGTCTTGGAGCGGTTCTGGCT	0.622																																						ENST00000395863.3											0			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(907-909)cGc>cAc	bone morphogenetic protein 7						87	76	80					20																	55758828		2203	4300	6503	SO:0001583	missense	655			BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55758828C>T			CCDS13455.1	CCDS13455.1	20q13	2014-01-30	2008-05-22		2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144	ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	"Bone morphogenetic proteins", "Endogenous ligands"	1074	1074	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"osteogenic protein 1"	"osteogenic protein 1"	112267	112267						1427904	1427904	Standard	Standard	NM_001719	NM_001719		Approved	OP-1	uc010gip.1	uc010gip.1	P18075	P18075	OTTHUMG00000032812	OTTHUMG00000032812	ENST00000395863.3:c.908G>A	20.37:g.55758828C>T	ENSP00000379204:p.Arg303His		BMP7_ENST00000450594.2_Missense_Mutation_p.R303H|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron	p.R303H	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		4	1413	-	all_lung(29;0.0133)|Melanoma(10;0.242)		303		Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.908G>A	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	35	5.583316	0.96578	.	.	ENSG00000101144	ENST00000395863;ENST00000450594	T;D	0.82619	-1.13;-1.63	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.79784	0.899;0.993	D	0.90031	0.4135	10	0.66056	D	0.02	.	19.3542	0.94404	0.0:1.0:0.0:0.0	.	303;303	P18075;B1AL00	BMP7_HUMAN;.	H	303	ENSP00000379204:R303H;ENSP00000398687:R303H	ENSP00000379204:R303H	R	-	2	0	0	BMP7	55192235	55192235	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.880000	0.69698	2.559000	0.86315	0.643000	0.83706	CGC		0.622	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		-6.889432	-16	-16	100	100			5	9.356997	9.356997	76	0.061728	0	0	0	1	0	5	76	0.061728	T	55758828	C	T	55758828	3	4	43	1	0	0	0	0	1	0	0	0	1465	768	27	1	403	1	BMP7	20	55758828	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		55758828	7266692	25	806											
EIF1AX	1964	broad.mit.edu	37	X	20156732	20156732	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chrX:20156732C>G	ENST00000379607.5	-	2	228	c.25G>C	c.(25-27)Ggt>Cgt	p.G9R	snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTGTTTTTACCTCCTTTACCT	0.313																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(25-27)Ggt>Cgt	eukaryotic translation initiation factor 1A, X-linked						141	131	134					X																	20156732		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156732C>G	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.25G>C	X.37:g.20156732C>G	ENSP00000368927:p.Gly9Arg		EIF1AX_ENST00000379593.1_Intron	p.G9R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	228	-			9		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.25G>C	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478585	0.63849	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.77018	0.4069	M	0.93763	3.455	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.83927	0.0304	9	0.62326	D	0.03	-11.9247	17.661	0.88193	0.0:1.0:0.0:0.0	.	9	P47813	IF1AX_HUMAN	R	9	ENSP00000368927:G9R	ENSP00000368927:G9R	G	-	1	0	0	EIF1AX	20066653	20066653	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		194.341419	-15	-15	152	152			56	202.553189	202.553189	9	0.861538	0	0	0	1	0	56	9	0.861538	G	20156732	C	G	20156732	3	3	43	1	0	0	0	0	1	0	0	0	4992	681	24	5	433	5	EIF1AX	23	20156732	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		20156732	135113828	26	807											
GAGE2A	729447	broad.mit.edu	37	X	49355851	49355851	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chrX:49355851C>T	ENST00000362097.1	+	3	216	c.133C>T	c.(133-135)Cca>Tca	p.P45S		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	45										endometrium(4)	4	Ovarian(276;0.236)					AGAAGGGGAACCAGCAACTCA	0.512																																						ENST00000362097.1											0			endometrium(4)	4						c.(133-135)Cca>Tca	G antigen 2A																																			SO:0001583	missense	729447						g.chrX:49355851C>T	U19143	U19143	CCDS48114.1	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064	ENSG00000189064	ENSG00000189064				4099	4099	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cancer/testis antigen family 4, member 2"	"cancer/testis antigen family 4, member 2"	300720	300720	"G antigen 2"	GAGE2	"G antigen 2"	GAGE2		7544395	7544395	Standard	Standard	NM_001127212	NM_001127212		Approved	CT4.2			Q6NT46	Q6NT46	OTTHUMG00000024143	OTTHUMG00000024143	ENST00000362097.1:c.133C>T	X.37:g.49355851C>T	ENSP00000355421:p.Pro45Ser			p.P45S	NM_001127212.1	NP_001120684.1					3	216	+	Ovarian(276;0.236)					Missense_Mutation	SNP	ENST00000362097.1	37	c.133C>T	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	11.00	1.510698	0.27036	.	.	ENSG00000189064	ENST00000362097	T	0.13901	2.55	1.06	0.14	0.14804	1.06	0.14	0.14804	.	.	.	.	.	T	0.29158	0.0725	M	0.75085	2.285	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10636	-1.0621	9	0.45353	T	0.12	.	3.2145	0.06694	0.0:0.6811:0.0:0.3189	.	45	Q6NT46	GAG2A_HUMAN	S	45	ENSP00000355421:P45S	ENSP00000355421:P45S	P	+	1	0	0	GAGE2A	49242795	49242795	0.000000	0.05858	0.002000	0.10522	0.259000	0.26198	0.150000	0.16263	-0.006000	0.14370	0.263000	0.19301	CCA		0.512	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3		-78.045419	434	434	929	929			20	38.738691	38.738691	490	0.039216	0	0	0	1	0	20	490	0.039216	T	49355851	C	T	49355851	3	4	43	1	0	0	0	0	1	0	0	0	6190	507	18	3	1240	3	GAGE2A	23	49355851	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08	29199119	49355851	105914709	27	808											
CLDN2	9075	broad.mit.edu	37	X	106171760	106171760	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	g.chrX:106171760G>C	ENST00000541806.1	+	2	821	c.302G>C	c.(301-303)gGc>gCc	p.G101A	CLDN2_ENST00000540876.1_Missense_Mutation_p.G101A|CLDN2_ENST00000336803.1_Missense_Mutation_p.G101A	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	101					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTGTGGTGGGCATGAGATGC	0.572																																						ENST00000541806.1											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(301-303)gGc>gCc	claudin 2						134	107	116					X																	106171760		2203	4300	6503	SO:0001583	missense	9075			calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171760G>C	AK075405	AK075405	CCDS14524.1	CCDS14524.1	Xq22.3-q23	2008-05-14			2008-05-14			ENSG00000165376	ENSG00000165376	ENSG00000165376	ENSG00000165376		"Claudins"	"Claudins"	2041	2041	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300520	300520						9892664	9892664	Standard	Standard	NM_020384	NM_020384		Approved		uc022ccc.1	uc022ccc.1	P57739	P57739	OTTHUMG00000022154	OTTHUMG00000022154	ENST00000541806.1:c.302G>C	X.37:g.106171760G>C	ENSP00000441283:p.Gly101Ala		CLDN2_ENST00000540876.1_Missense_Mutation_p.G101A|CLDN2_ENST00000336803.1_Missense_Mutation_p.G101A	p.G101A	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN			2	821	+			101		B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.302G>C	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843013	0.71488	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.90955	-2.76;-2.76;-2.76	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.95538	0.8550	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95899	0.8913	10	0.59425	D	0.04	.	15.266	0.73663	0.0:0.0:1.0:0.0	.	101	P57739	CLD2_HUMAN	A	101	ENSP00000441283:G101A;ENSP00000443230:G101A;ENSP00000336571:G101A	ENSP00000336571:G101A	G	+	2	0	0	CLDN2	106058416	106058416	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.807000	0.99171	2.195000	0.70347	0.523000	0.50628	GGC		0.572	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1		-5.212945	-1	-1	104	104			3	6.554177	6.554177	53	0.053571	0	0	0	1	0	3	53	0.053571	C	106171760	G	C	106171760	3	2	43	1	0	0	0	0	1	0	0	0	3481	1203	42	5	304	5	CLDN2	23	106171760	Missense_Mutation	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08	56815909	106171760	49098800	28	809											
ATAD3A	55210	broad.mit.edu	37	1	1463226	1463226	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr1:1463226G>A	ENST00000378755.5	+	14	1727	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	ATAD3A_ENST00000536055.1_Missense_Mutation_p.A418T|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A497T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	545					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TCTTAAGCCGGCCACAGAAGG	0.582																																						ENST00000378755.5											0			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1633-1635)Gcc>Acc	ATPase family, AAA domain containing 3A						93	100	98					1																	1463226		2203	4300	6503	SO:0001583	missense	55210					ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1463226G>A	AK025865	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	"ATPases / AAA-type"	25567	25567	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612316	612316						12477932	12477932	Standard	Standard	NM_018188	NM_018188		Approved	FLJ10709	uc001afz.2	uc001afz.2	Q9NVI7	Q9NVI7	OTTHUMG00000000575	OTTHUMG00000000575	ENST00000378755.5:c.1633G>A	1.37:g.1463226G>A	ENSP00000368030:p.Ala545Thr		ATAD3A_ENST00000536055.1_Missense_Mutation_p.A418T|ATAD3A_ENST00000378756.3_Missense_Mutation_p.A497T	p.A545T	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	14	1727	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	545		B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.1633G>A	CCDS31.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.34|16.34	3.095164|3.095164	0.56075|0.56075	.|.	.|.	ENSG00000197785|ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000378759;ENST00000536055;ENST00000400830|ENST00000339113	D;D;D|.	0.94650|.	-3.24;-3.11;-3.48|.	4.15|4.15	4.15|4.15	0.48705|0.48705	4.15|4.15	4.15|4.15	0.48705|0.48705	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74366|0.74366	0.3707|0.3707	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	B;B|.	0.32731|.	0.382;0.382|.	B;B|.	0.35607|.	0.15;0.206|.	T|T	0.76318|0.76318	-0.3003|-0.3003	10|5	0.38643|.	T|.	0.18|.	.|.	15.6717|15.6717	0.77283|0.77283	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	497;545|.	D2K8Q1;Q9NVI7|.	.;ATD3A_HUMAN|.	T|D	497;545;174;418;160|482	ENSP00000368031:A497T;ENSP00000368030:A545T;ENSP00000439290:A418T|.	ENSP00000368030:A545T|.	A|G	+|+	1|2	0|0	0|0	ATAD3A|ATAD3A	1453089|1453089	1453089|1453089	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.939000|0.939000	0.58152|0.58152	9.465000|9.465000	0.97660|0.97660	2.157000|2.157000	0.67596|0.67596	0.556000|0.556000	0.70494|0.70494	GCC|GGC		0.582	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1		-3.917653	-16	-16	75	75	NM_018188		3	6.479106	6.479106	48	0.058824	0	0	0	1	0	3	48	0.058824	A	1463226	G	A	1463226	3	1	44	1	0	0	0	0	1	0	0	0	1073	1203	42	2	1687	2	ATAD3A	1	1463226	Missense_Mutation	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		1463226	247787395	1	810											
KIAA2013	90231	broad.mit.edu	37	1	11983371	11983371	+	Silent	SNP	C	C	A			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr1:11983371C>A	ENST00000376572.3	-	2	1394	c.1209G>T	c.(1207-1209)ggG>ggT	p.G403G	KIAA2013_ENST00000376576.3_Silent_p.G403G	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	403						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGGCGTGCCCGCTGAAGC	0.647																																						ENST00000376572.3											0			endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(1207-1209)ggG>ggT	KIAA2013						52	43	46					1																	11983371		2203	4300	6503	SO:0001819	synonymous_variant	90231				integral to membrane		g.chr1:11983371C>A	AB095933	AB095933	CCDS141.1	CCDS141.1	1p36.22	2011-02-09			2011-02-09			ENSG00000116685	ENSG00000116685	ENSG00000116685	ENSG00000116685				28513	28513	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_138346	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	uc001atk.3	Q8IYS2	Q8IYS2	OTTHUMG00000002391	OTTHUMG00000002391	ENST00000376572.3:c.1209G>T	1.37:g.11983371C>A			KIAA2013_ENST00000376576.3_Silent_p.G403G	p.G403G	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1394	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	403		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	ENST00000376572.3	37	c.1209G>T	CCDS141.1																																																																																									0.647	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1		2.904502	-19	-19	32	32	NM_138346		3	7.192323	7.192323	25	0.107143	1	0	0.115264	1	0.115264	3	25	0.107143	A	11983371	C	A	11983371	2	1	44	1	0	0	0	0	0	0	0	1	8267	726	26	5		5	KIAA2013	1	11983371	Silent	SNP	C	TCGA-VD-A8KF-01A-11D-A39W-08	10520145	11983371	237267250	2	811											
LRRC15	131578	broad.mit.edu	37	3	194081424	194081424	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr3:194081424G>T	ENST00000347624.3	-	2	434	c.349C>A	c.(349-351)Ccc>Acc	p.P117T	LRRC15_ENST00000428839.1_Missense_Mutation_p.P123T|LRRC15_ENST00000439944.2_Missense_Mutation_p.P123T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	117					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGCCGATGGGCAGAACCTGC	0.602																																						ENST00000347624.3											0			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(349-351)Ccc>Acc	leucine rich repeat containing 15						53	56	55					3																	194081424		2203	4300	6503	SO:0001583	missense	131578				integral to membrane		g.chr3:194081424G>T	AB071037	AB071037	CCDS3306.1, CCDS46984.1	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			2008-02-05			ENSG00000172061	ENSG00000172061	ENSG00000172061	ENSG00000172061				20818	20818	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12923058	12923058	Standard	Standard	NM_001135057	NM_001135057		Approved	LIB	uc003ftu.3	uc003ftu.3	Q8TF66	Q8TF66	OTTHUMG00000156048	OTTHUMG00000156048	ENST00000347624.3:c.349C>A	3.37:g.194081424G>T	ENSP00000306276:p.Pro117Thr		LRRC15_ENST00000428839.1_Missense_Mutation_p.P123T|LRRC15_ENST00000439944.2_Missense_Mutation_p.P123T	p.P117T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	434	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		117		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.349C>A	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866379	0.72065	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.59224	0.28;3.06;3.06	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.085123	0.50627	D	0.000109	T	0.78097	0.4230	M	0.81614	2.55	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.984	T	0.80612	-0.1305	10	0.59425	D	0.04	.	18.7514	0.91818	0.0:0.0:1.0:0.0	.	117;123	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	T	117;123;123	ENSP00000306276:P117T;ENSP00000389128:P123T;ENSP00000413707:P123T	ENSP00000306276:P117T	P	-	1	0	0	LRRC15	195562719	195562719	1.000000	0.71417	0.997000	0.53966	0.852000	0.48524	5.249000	0.65427	2.602000	0.87976	0.462000	0.41574	CCC		0.602	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2		65.988172	-14	-14	49	49			19	68.036559	68.036559	1	0.95	1	0	5.3912e-06	1	6.16138e-06	19	1	0.95	T	194081424	G	T	194081424	3	4	44	1	0	0	0	0	1	0	0	0	8970	1203	42	5	1400	5	LRRC15	3	194081424	Missense_Mutation	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		194081424	3941006	3	812											
MRPS18C	51023	broad.mit.edu	37	4	84377254	84377254	+	Silent	SNP	C	C	T	rs141532727	byFrequency	TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr4:84377254C>T	ENST00000295491.4	+	1	137	c.24C>T	c.(22-24)tgC>tgT	p.C8C	MRPS18C_ENST00000507349.1_Silent_p.C8C|HELQ_ENST00000510985.1_5'Flank|MRPS18C_ENST00000507019.1_Silent_p.C8C|HELQ_ENST00000440639.2_5'Flank|HELQ_ENST00000295488.3_5'Flank	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	8					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TTGCTGTTTGCGGTGGTCTAG	0.552																																						ENST00000295491.4											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(22-24)tgC>tgT	mitochondrial ribosomal protein S18C	C		4,4402	8.1+/-20.4	0,4,2199	190	195	193		24	0	0	4	dbSNP_134	193	0,8600		0,0,4300	no	coding-synonymous	MRPS18C	NM_016067.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		8/143	84377254	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51023			translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr4:84377254C>T			CCDS3604.1, CCDS75159.1	CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			2012-09-13			ENSG00000163319	ENSG00000163319	ENSG00000163319	ENSG00000163319		"Mitochondrial ribosomal proteins / small subunits"	"Mitochondrial ribosomal proteins / small subunits"	16633	16633	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611983	611983						11279123, 10810093	11279123, 10810093	Standard	Standard	XM_005263043	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	uc003hor.4	Q9Y3D5	Q9Y3D5	OTTHUMG00000130430	OTTHUMG00000130430	ENST00000295491.4:c.24C>T	4.37:g.84377254C>T			MRPS18C_ENST00000507349.1_Silent_p.C8C|MRPS18C_ENST00000507019.1_Silent_p.C8C	p.C8C	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN			1	137	+		Hepatocellular(203;0.114)	8			Silent	SNP	ENST00000295491.4	37	c.24C>T	CCDS3604.1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.246952	0.10130	9.08E-4	0.0	ENSG00000163319	ENST00000509970	.	.	.	4.72	-0.0422	0.13864	4.72	-0.0422	0.13864	.	.	.	.	.	T	0.23451	0.0567	.	.	.	0.19775	N	0.999951	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	0.0289	4.1526	0.10245	0.0:0.4496:0.1685:0.3819	.	.	.	.	W	7	.	.	R	+	1	2	2	MRPS18C	84596278	84596278	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.225000	0.02956	0.037000	0.15575	-0.137000	0.14449	CGG		0.552	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2		-35.147103	-38	-38	178	178			4	7.209012	7.209012	164	0.02381	0	0	0	1	0	4	164	0.02381	T	84377254	C	T	84377254	2	4	44	1	0	0	0	0	0	0	0	1	9830	776	27	1		1	MRPS18C	4	84377254	Silent	SNP	C	TCGA-VD-A8KF-01A-11D-A39W-08		84377254	106777022	4	813											
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	C	T	rs202247793		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr5:31317540C>T	ENST00000265071.2	+	10	1836	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_ENST00000514738.1_Missense_Mutation_p.S469L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403																																						ENST00000265071.2											0			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1570-1572)tCg>tTg	cadherin 6, type 2, K-cadherin (fetal kidney)						94	90	91					5																	31317540		2203	4300	6503	SO:0001583	missense	1004			adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317540C>T	D31784	D31784	CCDS3894.1	CCDS3894.1	5p13.3	2010-01-26			2010-01-26			ENSG00000113361	ENSG00000113361	ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	"Cadherins / Major cadherins"	1765	1765	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"K-Cadherin"	"K-Cadherin"	603007	603007						7743525, 10191097	7743525, 10191097	Standard	Standard	NM_004932	NM_004932		Approved		uc003jhe.2	uc003jhe.2	P55285	P55285	OTTHUMG00000090673	OTTHUMG00000090673	ENST00000265071.2:c.1571C>T	5.37:g.31317540C>T	ENSP00000265071:p.Ser524Leu		CDH6_ENST00000514738.1_Missense_Mutation_p.S469L	p.S524L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			10	1836	+			524	Cadherin 5.	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1571C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518873	0.27211	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.54071	0.59;0.59	4.75	4.75	0.60458	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.365840	0.29300	N	0.012543	T	0.48241	0.1489	L	0.49126	1.545	0.49051	D	0.999747	B;B	0.30114	0.269;0.01	B;B	0.26094	0.066;0.008	T	0.43734	-0.9373	10	0.29301	T	0.29	.	18.3208	0.90238	0.0:1.0:0.0:0.0	.	524;524	P55285;P55285-2	CADH6_HUMAN;.	L	469;524	ENSP00000424843:S469L;ENSP00000265071:S524L	ENSP00000265071:S524L	S	+	2	0	0	CDH6	31353297	31353297	0.994000	0.37717	0.871000	0.34182	0.358000	0.29455	3.601000	0.54059	2.621000	0.88768	0.650000	0.86243	TCG		0.403	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2		-31.476309	3	3	128	128	NM_004932		4	7.340452	7.340452	152	0.025641	0	0	0	1	0	4	152	0.025641	T	31317540	C	T	31317540	3	4	44	1	0	0	0	0	1	0	0	0	3114	893	31	1	1605	1	CDH6	5	31317540	Missense_Mutation	SNP	C	TCGA-VD-A8KF-01A-11D-A39W-08		31317540	149597720	5	814											
ZFC3H1	196441	broad.mit.edu	37	12	72057131	72057131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr12:72057131G>T	ENST00000378743.3	-	1	618	c.260C>A	c.(259-261)tCa>tAa	p.S87*	ZFC3H1_ENST00000548100.1_Nonsense_Mutation_p.S87*|ZFC3H1_ENST00000552037.1_Nonsense_Mutation_p.S87*|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	87	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCGAGCGTGAGAAATTCCT	0.657											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3											0			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(259-261)tCa>tAa	zinc finger, C3H1-type containing						59	66	64					12																	72057131		1969	4152	6121	SO:0001587	stop_gained	196441			RNA processing	intracellular	metal ion binding	g.chr12:72057131G>T	AB011118	AB011118	CCDS41813.1	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		ENSG00000133858		"Zinc finger, C3H1-type containing"	"Zinc finger, C3H1-type containing"	28328	28328	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131	"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	9628581	Standard	Standard	NM_144982	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	uc001swo.2	O60293	O60293	OTTHUMG00000169545	OTTHUMG00000169545	ENST00000378743.3:c.260C>A	12.37:g.72057131G>T	ENSP00000368017:p.Ser87*	1134	ZFC3H1_ENST00000552037.1_Nonsense_Mutation_p.S87*|ZFC3H1_ENST00000548100.1_Nonsense_Mutation_p.S87*|ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR	p.S87*	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	618	-			87	Ser-rich.	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	37	c.260C>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	39	7.359003	0.98235	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	.	.	.	4.09	3.18	0.36537	4.09	3.18	0.36537	.	0.118844	0.34362	N	0.004034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5178	0.56042	0.0:0.168:0.832:0.0	.	.	.	.	X	87	.	ENSP00000368017:S87X	S	-	2	0	0	ZFC3H1	70343398	70343398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.122000	0.50446	1.048000	0.40298	0.455000	0.32223	TCA		0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1		122.463607	-10	-10	102	102	NM_144982		41	122.657448	122.657448	50	0.450549	1	0	3.4345e-17	1	4.57933e-17	41	50	0.450549	T	72057131	G	T	72057131	4	4	44	1	0	0	0	0	0	1	0	0	17630	1294	45	5	5849	5	ZFC3H1	12	72057131	Nonsense_Mutation	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		72057131	61794764	6	815											
PCDH9	5101	broad.mit.edu	37	13	67800083	67800083	+	Silent	SNP	G	G	A			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr13:67800083G>A	ENST00000377865.2	-	1	2624	c.2490C>T	c.(2488-2490)atC>atT	p.I830I	PCDH9_ENST00000544246.1_Silent_p.I830I|PCDH9_ENST00000328454.5_Silent_p.I830I|PCDH9_ENST00000377861.3_Silent_p.I830I|PCDH9_ENST00000456367.1_Silent_p.I830I			Q9HC56	PCDH9_HUMAN	protocadherin 9	830					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGGTGACGAAGATCACAACAA	0.507																																						ENST00000544246.1											0			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(2488-2490)atC>atT	protocadherin 9						200	176	184					13																	67800083		2203	4300	6503	SO:0001819	synonymous_variant	5101			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800083G>A	AF169692	AF169692	CCDS9443.1, CCDS9444.1	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			2010-02-22			ENSG00000184226	ENSG00000184226	ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	"Cadherins / Protocadherins : Non-clustered"	8661	8661	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603581	603581						9787079	9787079	Standard	Standard	NM_020403	NM_020403		Approved		uc001vik.3	uc001vik.3	Q9HC56	Q9HC56	OTTHUMG00000017040	OTTHUMG00000017040	ENST00000377865.2:c.2490C>T	13.37:g.67800083G>A			PCDH9_ENST00000456367.1_Silent_p.I830I|PCDH9_ENST00000377865.2_Silent_p.I830I|PCDH9_ENST00000377861.3_Silent_p.I830I|PCDH9_ENST00000328454.5_Silent_p.I830I	p.I830I	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3181	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	830		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.2490C>T	CCDS9444.1																																																																																									0.507	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1		163.400063	-13	-13	90	90	NM_203487		52	163.419333	163.419333	49	0.514851	0	0	0	1	0	52	49	0.514851	A	67800083	G	A	67800083	2	1	44	1	0	0	0	0	0	0	0	1	11518	932	33	3		3	PCDH9	13	67800083	Silent	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		67800083	47369795	7	816											
C14orf174	161394	broad.mit.edu	37	14	77857522	77857522	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr14:77857522C>A	ENST00000216471.4	+	3	2246	c.1960C>A	c.(1960-1962)Cag>Aag	p.Q654K	SAMD15_ENST00000533095.2_Missense_Mutation_p.Q68K	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	654										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCAGGATTACAGGATTATGC	0.388																																						ENST00000216471.4											0			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1960-1962)Cag>Aag	sterile alpha motif domain containing 15						82	82	82					14																	77857522		2203	4300	6503	SO:0001583	missense	161394						g.chr14:77857522C>A	AK093282	AK093282	CCDS32126.1	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	"Sterile alpha motif (SAM) domain containing"	18631	18631	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174	"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174				Standard	Standard	XM_006720069	XM_006720069		Approved	FLJ35963	uc001xtq.1	uc001xtq.1	Q9P1V8	Q9P1V8			ENST00000216471.4:c.1960C>A	14.37:g.77857522C>A	ENSP00000216471:p.Gln654Lys		SAMD15_ENST00000533095.2_Missense_Mutation_p.Q68K	p.Q654K	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN			3	2246	+			654		Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1960C>A	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892353	0.33442	.	.	ENSG00000100583	ENST00000533095;ENST00000216471	T	0.19250	2.16	5.64	-3.32	0.04973	5.64	-3.32	0.04973	.	.	.	.	.	T	0.14830	0.0358	L	0.36672	1.1	0.09310	N	1	P	0.44734	0.842	B	0.35114	0.196	T	0.25745	-1.0123	9	0.59425	D	0.04	-5.6079	14.7721	0.69688	0.0:0.291:0.6408:0.0682	.	654	Q9P1V8	SAM15_HUMAN	K	68;654	ENSP00000216471:Q654K	ENSP00000216471:Q654K	Q	+	1	0	0	SAMD15	76927275	76927275	0.947000	0.32204	0.928000	0.36995	0.702000	0.40608	-0.176000	0.09811	-0.206000	0.10203	-0.182000	0.12963	CAG		0.388	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2		77.801269	-18	-18	47	47	NM_001010860		24	77.820117	77.820117	22	0.521739	1	0	9.57634e-11	1	1.17863e-10	24	22	0.521739	A	77857522	C	A	77857522	3	1	44	1	0	0	0	0	1	0	0	0	1759	479	17	5	1970	5	C14orf174	14	77857522	Missense_Mutation	SNP	C	TCGA-VD-A8KF-01A-11D-A39W-08		77857522	29492018	8	817											
LGALS9	3965	broad.mit.edu	37	17	25974373	25974373	+	Missense_Mutation	SNP	G	G	A	rs149003631		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr17:25974373G>A	ENST00000395473.2	+	10	2304	c.836G>A	c.(835-837)cGc>cAc	p.R279H	LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.R235H|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000302228.5_Missense_Mutation_p.R247H	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	279	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTGTGGTCCGCAACACCCAG	0.587																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	ENST00000395473.2											0			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(835-837)cGc>cAc	lectin, galactoside-binding, soluble, 9	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	92	87	88		740,836	3.4	1	17	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	LGALS9	NM_002308.3,NM_009587.2	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	247/324,279/356	25974373	2,13004	2203	4300	6503	SO:0001583	missense	3965			positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25974373G>A	AB006782	AB006782	CCDS11222.1, CCDS32592.1	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961	ENSG00000168961	ENSG00000168961		"Lectins, galactoside-binding"	"Lectins, galactoside-binding"	6570	6570	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"galectin 9"	"galectin 9"	601879	601879						9045665	9045665	Standard	Standard	NM_009587	NM_009587		Approved	LGALS9A	uc002gzp.3	uc002gzp.3	O00182	O00182	OTTHUMG00000179831	OTTHUMG00000179831	ENST00000395473.2:c.836G>A	17.37:g.25974373G>A	ENSP00000378856:p.Arg279His		LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000310394.5_Missense_Mutation_p.R235H|LGALS9_ENST00000302228.5_Missense_Mutation_p.R247H	p.R279H	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	10	2304	+	Lung NSC(42;0.0103)		279	Galectin 2.	A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.836G>A	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268327	0.80469	0.0	2.33E-4	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394	T;T;T	0.14144	2.53;2.53;2.53	4.36	3.38	0.38709	4.36	3.38	0.38709	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.996	D;P;P	0.75484	0.986;0.878;0.894	T	0.63102	-0.6712	10	0.72032	D	0.01	.	11.312	0.49368	0.0:0.0:0.8163:0.1837	.	190;247;279	B4DJD7;Q3B8N1;O00182	.;.;LEG9_HUMAN	H	279;247;235	ENSP00000378856:R279H;ENSP00000306228:R247H;ENSP00000312259:R235H	ENSP00000306228:R247H	R	+	2	0	0	LGALS9	22998500	22998500	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	5.359000	0.66074	1.036000	0.39998	0.467000	0.42956	CGC		0.587	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1		-4.517596	-21	-21	78	78	NM_009587		3	6.42779	6.42779	50	0.056604	0	0	0	1	0	3	50	0.056604	A	25974373	G	A	25974373	3	1	44	1	0	0	0	0	1	0	0	0	8748	1087	38	1	874	1	LGALS9	17	25974373	Missense_Mutation	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		25974373	55220837	9	818											
ITGB4	3691	broad.mit.edu	37	17	73749891	73749891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr17:73749891delT	ENST00000200181.3	+	33	4341	c.4154delT	c.(4153-4155)ctgfs	p.L1385fs	ITGB4_ENST00000339591.3_Intron|ITGB4_ENST00000579662.1_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000450894.3_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1385					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTGGACCTGCGGCGCGTC	0.776																																						ENST00000200181.3											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4153-4155)ctgfs	integrin, beta 4						8	10	9					17																	73749891		2169	4252	6421	SO:0001589	frameshift_variant	3691			cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73749891delT			CCDS11727.1, CCDS32736.1, CCDS58599.1	CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			2013-09-19			ENSG00000132470	ENSG00000132470	ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	6158	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147557	147557						2070796	2070796	Standard	Standard	XM_005257309	XM_005257309		Approved	CD104	uc002jpg.3	uc002jpg.3	P16144	P16144	OTTHUMG00000179814	OTTHUMG00000179814	ENST00000200181.3:c.4154delT	17.37:g.73749891delT	ENSP00000200181:p.Leu1385fs		ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000339591.3_Intron|GALK1_ENST00000225614.2_Intron	p.L1385fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		33	4341	+	all_cancers(13;1.5e-07)		1385		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Frame_Shift_Del	DEL	ENST00000200181.3	37	c.4154delT	CCDS11727.1																																																																																									0.776	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	.	.	-1	-1	7	7			2			4	0.33						2	4	0.33	-	73749891	T	-	73749891	7	5	44	1	0	1	0	1	0	0	0	0	7897	1580	55	0	4280	0	ITGB4	17	73749891	Frame_Shift_Del	DEL	T	TCGA-VD-A8KF-01A-11D-A39W-08	47775518	73749891	7445319	10	819											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		53.474156	-13	-13	68	68	NM_002067		17	53.480694	53.480694	16	0.515152	0	0	0	1	0	17	16	0.515152	T	3118942	A	T	3118942	3	4	44	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8KF-01A-11D-A39W-08		3118942	56010041	11	820											
PADI2	11240	broad.mit.edu	37	1	17395607	17395607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:17395607C>A	ENST00000375486.4	-	16	1993	c.1930G>T	c.(1930-1932)Gaa>Taa	p.E644*	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Nonsense_Mutation_p.E528*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	644					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CAGTGGACTTCCCCCAGAAAT	0.612																																						ENST00000375486.4											0			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(1930-1932)Gaa>Taa	peptidyl arginine deiminase, type II						111	102	105					1																	17395607		2203	4300	6503	SO:0001587	stop_gained	11240			peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17395607C>A	AB030176	AB030176	CCDS177.1	CCDS177.1	1p35.2-p35.1	2008-02-05			2008-02-05			ENSG00000117115	ENSG00000117115	ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	"Peptidyl arginine deiminases"	18341	18341	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607935	607935						2768262	2768262	Standard	Standard	NM_007365	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	uc001baf.3	Q9Y2J8	Q9Y2J8	OTTHUMG00000002295	OTTHUMG00000002295	ENST00000375486.4:c.1930G>T	1.37:g.17395607C>A	ENSP00000364635:p.Glu644*		PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Nonsense_Mutation_p.E528*	p.E644*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	16	1993	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	644		Q96DA7|Q9UPN2	Nonsense_Mutation	SNP	ENST00000375486.4	37	c.1930G>T	CCDS177.1	.	.	.	.	.	.	.	.	.	.	C	39	7.423699	0.98275	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	.	.	.	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.4562	17.5705	0.87933	0.0:1.0:0.0:0.0	.	.	.	.	X	644;528	.	ENSP00000364635:E644X	E	-	1	0	0	PADI2	17268194	17268194	1.000000	0.71417	0.921000	0.36526	0.900000	0.52787	7.513000	0.81739	2.494000	0.84150	0.655000	0.94253	GAA		0.612	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1		65.423026	-6	-6	97	97			23	66.046162	66.046162	36	0.389831	1	0	7.88262e-20	1	8.82854e-20	23	36	0.389831	A	17395607	C	A	17395607	4	1	45	1	0	0	0	0	0	1	0	0	11378	864	30	5	71	5	PADI2	1	17395607	Nonsense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		17395607	231855014	1	821											
DCDC2B	149069	broad.mit.edu	37	1	32677692	32677692	+	Silent	SNP	G	G	A			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:32677692G>A	ENST00000409358.1	+	4	417	c.417G>A	c.(415-417)ctG>ctA	p.L139L		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	139	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATGGGGACCTGGTAAGTCCCC	0.567																																						ENST00000409358.1											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11						c.(415-417)ctG>ctA	doublecortin domain containing 2B						44	46	46					1																	32677692		1904	4116	6020	SO:0001819	synonymous_variant	149069			intracellular signal transduction			g.chr1:32677692G>A	BC128073	BC128073	CCDS44100.1	CCDS44100.1	1p35.1	2008-05-13			2008-05-13			ENSG00000222046	ENSG00000222046	ENSG00000222046	ENSG00000222046				32576	32576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001099434	NM_001099434		Approved		uc001bun.2	uc001bun.2	A2VCK2	A2VCK2	OTTHUMG00000005741	OTTHUMG00000005741	ENST00000409358.1:c.417G>A	1.37:g.32677692G>A				p.L139L	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN			4	417	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	139	Doublecortin 2.	B7ZBC6	Silent	SNP	ENST00000409358.1	37	c.417G>A	CCDS44100.1																																																																																									0.567	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1		6.685775	-7	-7	29	29	XM_940631		4	9.662737	9.662737	22	0.153846	0	0	0	1	0	4	22	0.153846	A	32677692	G	A	32677692	2	1	45	1	0	0	0	0	0	0	0	1	4286	1335	47	3		3	DCDC2B	1	32677692	Silent	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08	15282085	32677692	216572929	2	822											
ELTD1	64123	broad.mit.edu	37	1	79383680	79383680	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:79383680G>A	ENST00000370742.3	-	11	1580	c.1517C>T	c.(1516-1518)gCa>gTa	p.A506V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	506					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCACATCCATGCAAAAGCAGC	0.348																																						ENST00000370742.3											0			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1516-1518)gCa>gTa	EGF, latrophilin and seven transmembrane domain containing 1						132	125	127					1																	79383680		1884	4114	5998	SO:0001583	missense	64123			neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383680G>A	AF192403	AF192403	CCDS41352.1	CCDS41352.1	1p33-p32	2014-08-08			2014-08-08			ENSG00000162618	ENSG00000162618	ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	"-", "GPCR / Class B : Orphans"	20822	20822	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11050079	11050079	Standard	Standard	NM_022159	NM_022159		Approved	ETL	uc001diq.4	uc001diq.4	Q9HBW9	Q9HBW9	OTTHUMG00000009738	OTTHUMG00000009738	ENST00000370742.3:c.1517C>T	1.37:g.79383680G>A	ENSP00000359778:p.Ala506Val			p.A506V	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1580	-			506		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1517C>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343919	0.95807	.	.	ENSG00000162618	ENST00000370742	T	0.43294	0.95	6.08	6.08	0.98989	6.08	6.08	0.98989	GPCR, family 2-like (1);	0.050733	0.85682	D	0.000000	T	0.48502	0.1503	M	0.67700	2.07	0.80722	D	1	P	0.46395	0.877	P	0.51016	0.656	T	0.29274	-1.0017	9	.	.	.	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	506	Q9HBW9	ELTD1_HUMAN	V	506	ENSP00000359778:A506V	.	A	-	2	0	0	ELTD1	79156268	79156268	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GCA		0.348	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1		97.452591	-23	-23	98	98	NM_022159		33	98.564964	98.564964	54	0.37931	0	0	0	1	0	33	54	0.37931	A	79383680	G	A	79383680	3	1	45	1	0	0	0	0	1	0	0	0	5084	1319	46	2	575	2	ELTD1	1	79383680	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08	46705988	79383680	169866941	3	823											
HSPA6	3310	broad.mit.edu	37	1	161495096	161495096	+	Silent	SNP	T	T	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr1:161495096T>C	ENST00000309758.4	+	1	1061	c.648T>C	c.(646-648)gcT>gcC	p.A216A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	216					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.A216A(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCATTGACGCTGGTGTCTTTG	0.597																																						ENST00000309758.4											1	Substitution - coding silent(1)	endometrium(1)	endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(646-648)gcT>gcC	heat shock 70kDa protein 6 (HSP70B')						45	48	47					1																	161495096		2203	4300	6503	SO:0001819	synonymous_variant	3310			response to unfolded protein		ATP binding	g.chr1:161495096T>C			CCDS1231.1	CCDS1231.1	1q23.3	2011-09-02	2002-08-29		2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110	ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	"Heat shock proteins / HSP70"	5239	5239	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			140555	140555	"heat shock 70kD protein 6 (HSP70B')"		"heat shock 70kD protein 6 (HSP70B')"			1346391	1346391	Standard	Standard	NM_002155	NM_002155		Approved		uc001gaq.3	uc001gaq.3	P17066	P17066	OTTHUMG00000034461	OTTHUMG00000034461	ENST00000309758.4:c.648T>C	1.37:g.161495096T>C			RP11-25K21.6_ENST00000537821.2_RNA	p.A216A	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1061	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		216		Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	ENST00000309758.4	37	c.648T>C	CCDS1231.1																																																																																									0.597	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1		3.672462	-2	-2	40	40	NM_002155		4	9.306377	9.306377	33	0.108108	0	0	0	1	0	4	33	0.108108	C	161495096	T	C	161495096	2	2	45	1	0	0	0	0	0	0	0	1	7415	1567	55	4		4	HSPA6	1	161495096	Silent	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08	82111416	161495096	87755525	4	824											
MCEE	84693	broad.mit.edu	37	2	71351503	71351503	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr2:71351503C>T	ENST00000244217.5	-	2	228	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	71					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTTACCTGGGCCCCCAGAATA	0.478																																						ENST00000244217.5											0			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(211-213)Gcc>Acc	methylmalonyl CoA epimerase						97	102	100					2																	71351503		2203	4300	6503	SO:0001583	missense	84693			fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity	g.chr2:71351503C>T	AF364547	AF364547	CCDS1915.1	CCDS1915.1	2p13.3	2011-05-12			2011-05-12			ENSG00000124370	ENSG00000124370	ENSG00000124370	ENSG00000124370	5.1.99.1			16732	16732	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"glyoxalase domain containing 2"	"glyoxalase domain containing 2"	608419	608419						16697227, 16752391, 16843692	16697227, 16752391, 16843692	Standard	Standard	NM_032601	NM_032601		Approved	GLOD2	uc002shs.2	uc002shs.2	Q96PE7	Q96PE7	OTTHUMG00000129709	OTTHUMG00000129709	ENST00000244217.5:c.211G>A	2.37:g.71351503C>T	ENSP00000244217:p.Ala71Thr			p.A71T	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN			2	228	-			71		Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	c.211G>A	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341316	0.81911	.	.	ENSG00000124370	ENST00000413592;ENST00000244217	T;T	0.70631	-0.5;-0.07	5.33	5.33	0.75918	5.33	5.33	0.75918	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.049051	0.85682	D	0.000000	D	0.85414	0.5691	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86094	0.1552	10	0.48119	T	0.1	-21.6199	16.8888	0.86082	0.0:1.0:0.0:0.0	.	71	Q96PE7	MCEE_HUMAN	T	27;71	ENSP00000391140:A27T;ENSP00000244217:A71T	ENSP00000244217:A71T	A	-	1	0	0	MCEE	71205011	71205011	1.000000	0.71417	0.989000	0.46669	0.355000	0.29361	7.090000	0.76916	2.661000	0.90470	0.650000	0.86243	GCC		0.478	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3		81.352059	-20	-20	98	98	NM_032601		29	82.027984	82.027984	44	0.39726	0	0	0	1	0	29	44	0.39726	T	71351503	C	T	71351503	3	4	45	1	0	0	0	0	1	0	0	0	9377	739	26	2	327	2	MCEE	2	71351503	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		71351503	171847870	5	825											
RHO	6010	broad.mit.edu	37	3	129249761	129249761	+	Missense_Mutation	SNP	G	G	A	rs104893774		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr3:129249761G>A	ENST00000296271.3	+	2	498	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	135			R -> G (in RP4). {ECO:0000269|PubMed:8317502}.|R -> L (in RP4).|R -> W (in RP4). {ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:8554077}.		G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	GCCATCGAGCGGTACGTGGTG	0.622																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3											0			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22	GRCh37	CM920610|CM973324|CP910713	RHO	M|X	rs104893774	c.(403-405)cGg>cAg	rhodopsin						256	202	220					3																	129249761		2203	4300	6503	SO:0001583	missense	6010			protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129249761G>A	AB065668	AB065668	CCDS3063.1	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914	ENSG00000163914	ENSG00000163914		"GPCR / Class A : Opsin receptors"	"GPCR / Class A : Opsin receptors"	10012	10012	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"opsin 2, rod pigment"	"opsin 2, rod pigment"	180380	180380	"retinitis pigmentosa 4, autosomal dominant"	RP4	"retinitis pigmentosa 4, autosomal dominant"	RP4		2016091	2016091	Standard	Standard	NM_000539	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	uc003emt.3	P08100	P08100	OTTHUMG00000159542	OTTHUMG00000159542	ENST00000296271.3:c.404G>A	3.37:g.129249761G>A	ENSP00000296271:p.Arg135Gln			p.R135Q	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	2	498	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	135		Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	c.404G>A	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	36	5.758799	0.96898	.	.	ENSG00000163914	ENST00000296271	D	0.97161	-4.27	5.26	5.26	0.73747	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98270	1.0503	10	0.87932	D	0	.	18.8606	0.92270	0.0:0.0:1.0:0.0	.	135	P08100	OPSD_HUMAN	Q	135	ENSP00000296271:R135Q	ENSP00000296271:R135Q	R	+	2	0	0	RHO	130732451	130732451	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.863000	0.99569	2.448000	0.82819	0.462000	0.41574	CGG		0.622	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1		-22.008008	-45	-45	166	166	NM_000539		4	7.926643	7.926643	121	0.032	0	0	0	1	0	4	121	0.032	A	129249761	G	A	129249761	3	1	45	1	0	0	0	0	1	0	0	0	13330	1116	39	1	410	1	RHO	3	129249761	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		129249761	68772669	6	826											
STAG1	10274	broad.mit.edu	37	3	136141361	136141361	+	Nonsense_Mutation	SNP	A	A	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr3:136141361A>C	ENST00000383202.2	-	19	2184	c.1928T>G	c.(1927-1929)tTa>tGa	p.L643*	STAG1_ENST00000434713.2_Nonsense_Mutation_p.L417*|STAG1_ENST00000236698.5_Nonsense_Mutation_p.L643*|STAG1_ENST00000536929.1_Nonsense_Mutation_p.L227*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	643					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCACTGCATAAGATACTATA	0.388																																						ENST00000383202.2											0			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1927-1929)tTa>tGa	stromal antigen 1						140	140	140					3																	136141361		2203	4300	6503	SO:0001587	stop_gained	10274			cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136141361A>C	Z75330	Z75330	CCDS3090.1	CCDS3090.1	3q22.2-q22.3	2011-08-12			2011-08-12			ENSG00000118007	ENSG00000118007	ENSG00000118007	ENSG00000118007				11354	11354	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604358	604358						9305759	9305759	Standard	Standard	XM_006713471	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	uc003era.1	Q8WVM7	Q8WVM7	OTTHUMG00000159798	OTTHUMG00000159798	ENST00000383202.2:c.1928T>G	3.37:g.136141361A>C	ENSP00000372689:p.Leu643*		STAG1_ENST00000536929.1_Nonsense_Mutation_p.L227*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.L417*|STAG1_ENST00000236698.5_Nonsense_Mutation_p.L643*	p.L643*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			19	2184	-			643		O00539|Q6P275	Nonsense_Mutation	SNP	ENST00000383202.2	37	c.1928T>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072045	0.93950	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.	.	.	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9214	0.79580	1.0:0.0:0.0:0.0	.	.	.	.	X	643;643;417;227	.	ENSP00000236698:L643X	L	-	2	0	0	STAG1	137624051	137624051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.156000	0.67533	0.524000	0.50904	TTA		0.388	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		19.389449	-53	-53	146	146	NM_005862		16	42.925789	42.925789	136	0.105263	0	0	0	1	0	16	136	0.105263	C	136141361	A	C	136141361	4	2	45	1	0	0	0	0	0	1	0	0	15241	372	13	5	1912	5	STAG1	3	136141361	Nonsense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08	6891600	136141361	61881069	7	827											
PCDHA2	56146	broad.mit.edu	37	5	140174912	140174912	+	Silent	SNP	G	G	T			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr5:140174912G>T	ENST00000526136.1	+	1	363	c.363G>T	c.(361-363)gtG>gtT	p.V121V	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.V121V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.V121V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGGAAGTGGAGGTGAAGG	0.547																																						ENST00000526136.1											0			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(361-363)gtG>gtT							101	111	107					5																	140174912		2203	4300	6503	SO:0001819	synonymous_variant	0						g.chr5:140174912G>T	AF152480	AF152480	CCDS54914.1, CCDS64269.1	CCDS54914.1, CCDS64269.1	5q31	2010-11-26			2010-11-26				ENSG00000204969		ENSG00000204969		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8668	8668	other	complex locus constituent	other	complex locus constituent	"KIAA0345-like 12"	"KIAA0345-like 12"	606308	606308						10380929	10380929	Standard	Standard	NM_018905	NM_018905		Approved				Q9Y5H9	Q9Y5H9			ENST00000526136.1:c.363G>T	5.37:g.140174912G>T			PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.V121V|PCDHA2_ENST00000520672.2_Silent_p.V121V|PCDHA1_ENST00000394633.3_Intron	p.V121V	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	363	+					O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.363G>T	CCDS54914.1																																																																																									0.547	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3		5.143067	8	8	168	168	NM_018905		11	23.240528	23.240528	101	0.098214	1	0	1.58986e-06	1	1.64875e-06	11	101	0.098214	T	140174912	G	T	140174912	2	4	45	1	0	0	0	0	0	0	0	1	11524	1335	47	5		5	PCDHA2	5	140174912	Silent	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		140174912	40740348	8	828											
OR2B2	81697	broad.mit.edu	37	6	27879977	27879977	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr6:27879977C>A	ENST00000303324.2	-	1	197	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	41						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(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTCAGATTGCCAAAGATTGTC	0.398																																						ENST00000303324.2											0			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						c.(121-123)Ggc>Tgc	olfactory receptor, family 2, subfamily B, member 2						103	102	103					6																	27879977		2203	4300	6503	SO:0001583	missense	81697			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879977C>A	Z98744	Z98744	CCDS4641.1	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131	ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	13966	13966	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"olfactory receptor, family 2, subfamily B, member 9"	OR2B9	"olfactory receptor, family 2, subfamily B, member 9"	OR2B9				Standard	Standard	NM_033057	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	uc011dkw.2	Q9GZK3	Q9GZK3	OTTHUMG00000014495	OTTHUMG00000014495	ENST00000303324.2:c.121G>T	6.37:g.27879977C>A	ENSP00000304419:p.Gly41Cys			p.G41C	NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN			1	197	-			41		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.121G>T	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268499	0.40095	.	.	ENSG00000168131	ENST00000303324	T	0.04454	3.62	4.37	4.37	0.52481	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	U	0.001263	T	0.26629	0.0651	H	0.98682	4.3	0.28609	N	0.908775	D	0.89917	1.0	D	0.74023	0.982	T	0.48502	-0.9030	10	0.87932	D	0	.	15.2222	0.73320	0.0:1.0:0.0:0.0	.	41	Q9GZK3	OR2B2_HUMAN	C	41	ENSP00000304419:G41C	ENSP00000304419:G41C	G	-	1	0	0	OR2B2	27987956	27987956	0.012000	0.17670	0.997000	0.53966	0.225000	0.24961	2.428000	0.44749	2.346000	0.79739	0.563000	0.77884	GGC		0.398	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1		71.209905	-20	-20	55	55			26	75.273405	75.273405	67	0.27957	1	0	4.22769e-11	1	4.5529e-11	26	67	0.27957	A	27879977	C	A	27879977	3	1	45	1	0	0	0	0	1	0	0	0	10989	594	21	5	956	5	OR2B2	6	27879977	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		27879977	143235090	9	829											
ITGB8	3696	broad.mit.edu	37	7	20421427	20421427	+	Silent	SNP	T	T	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr7:20421427T>C	ENST00000222573.4	+	6	1563	c.879T>C	c.(877-879)gaT>gaC	p.D293D	ITGB8_ENST00000537992.1_Silent_p.D158D	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	293	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCGCTCTTGATAGCAAATTGG	0.428																																						ENST00000222573.4											0			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(877-879)gaT>gaC	integrin, beta 8						143	126	132					7																	20421427		2203	4300	6503	SO:0001819	synonymous_variant	3696			cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20421427T>C			CCDS5370.1	CCDS5370.1	7p15.3	2010-03-23			2010-03-23			ENSG00000105855	ENSG00000105855	ENSG00000105855	ENSG00000105855		"Integrins"	"Integrins"	6163	6163	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604160	604160								Standard	Standard	XM_005249751	XM_005249751		Approved		uc003suu.3	uc003suu.3	P26012	P26012	OTTHUMG00000023594	OTTHUMG00000023594	ENST00000222573.4:c.879T>C	7.37:g.20421427T>C			ITGB8_ENST00000537992.1_Silent_p.D158D	p.D293D	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			6	1563	+				VWFA.	A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.879T>C	CCDS5370.1																																																																																									0.428	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3		23.284390	3	3	79	79	NM_002214		11	30.457791	30.457791	56	0.164179	0	0	0	1	0	11	56	0.164179	C	20421427	T	C	20421427	2	2	45	1	0	0	0	0	0	0	0	1	7901	1403	49	4		4	ITGB8	7	20421427	Silent	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08		20421427	138717236	10	830											
CA2	760	broad.mit.edu	37	8	86389348	86389348	+	Splice_Site	SNP	G	G	A			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr8:86389348G>A	ENST00000285379.5	+	6	737		c.e6-1			NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II						angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CCTTGTTCTAGGGCAAGAGTG	0.502																																						ENST00000285379.5											0			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11	GRCh37	CS920730	CA2	S		c.e6-1	carbonic anhydrase II						222	188	200					8																	86389348		2203	4300	6503	SO:0001630	splice_region_variant	760			one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding	g.chr8:86389348G>A	J03037	J03037	CCDS6239.1	CCDS6239.1	8q21.2	2012-10-02			2012-10-02			ENSG00000104267	ENSG00000104267	ENSG00000104267	ENSG00000104267	4.2.1.1	"Carbonic anhydrases"	"Carbonic anhydrases"	1373	1373	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611492	611492						3107918	3107918	Standard	Standard	NM_000067	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	uc003ydk.2	P00918	P00918	OTTHUMG00000164944	OTTHUMG00000164944	ENST00000285379.5:c.508-1G>A	8.37:g.86389348G>A					NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN			6	737	+					B2R7G8|Q6FI12|Q96ET9	Splice_Site	SNP	ENST00000285379.5	37		CCDS6239.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091146	0.36855	.	.	ENSG00000104267	ENST00000285379	.	.	.	5.09	5.09	0.68999	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8355	0.88694	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	CA2	86576600	86576600	1.000000	0.71417	0.945000	0.38365	0.013000	0.08279	9.773000	0.98989	2.531000	0.85337	0.555000	0.69702	.		0.502	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381097.2		300.590150	15	15	128	128	NM_000067	Intron	90	302.697345	302.697345	53	0.629371	0	0	0	1	0	90	53	0.629371	A	86389348	G	A	86389348	5	1	45	1	0	0	0	0	0	0	1	0	2516	1014	35	3	529	3	CA2	8	86389348	Splice_Site	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		86389348	59974674	11	831											
MUSK	4593	broad.mit.edu	37	9	113449430	113449430	+	Silent	SNP	T	T	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr9:113449430T>C	ENST00000374448.4	+	3	374	c.240T>C	c.(238-240)aaT>aaC	p.N80N	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374439.1_5'Flank|MUSK_ENST00000189978.5_Silent_p.N80N|MUSK_ENST00000416899.2_Silent_p.N80N	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	80	Ig-like 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCCGGGAGAATGGGCAGCTCC	0.488																																						ENST00000416899.2											0			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(238-240)aaT>aaC	muscle, skeletal, receptor tyrosine kinase						161	164	163					9																	113449430		2009	4179	6188	SO:0001819	synonymous_variant	4593			transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113449430T>C	AF006464	AF006464	CCDS48005.1, CCDS75874.1	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			2013-01-29			ENSG00000030304	ENSG00000030304	ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	7525	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601296	601296						7546737	7546737	Standard	Standard	NM_005592	NM_005592		Approved		uc022blv.1	uc022blv.1	O15146	O15146	OTTHUMG00000020485	OTTHUMG00000020485	ENST00000374448.4:c.240T>C	9.37:g.113449430T>C			MUSK_ENST00000374448.4_Silent_p.N80N|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Silent_p.N80N	p.N80N			O15146	MUSK_HUMAN			3	366	+			80	Ig-like 1.	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	ENST00000374448.4	37	c.240T>C	CCDS48005.1																																																																																									0.488	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			8.144414	5	5	95	95			8	19.412045	19.412045	66	0.108108	0	0	0	1	0	8	66	0.108108	C	113449430	T	C	113449430	2	2	45	1	0	0	0	0	0	0	0	1	9989	1461	51	4		4	MUSK	9	113449430	Silent	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08		113449430	27764001	12	832											
CD163	9332	broad.mit.edu	37	12	7649512	7649512	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr12:7649512G>C	ENST00000359156.4	-	5	1198	c.996C>G	c.(994-996)agC>agG	p.S332R	CD163_ENST00000432237.2_Missense_Mutation_p.S332R|CD163_ENST00000396620.3_Missense_Mutation_p.S332R|CD163_ENST00000541972.1_Missense_Mutation_p.S320R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	332	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GGCAAGAAACGCTGTCAAGCC	0.488																																						ENST00000359156.4											0			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(994-996)agC>agG	CD163 molecule						149	102	118					12																	7649512		2203	4300	6503	SO:0001583	missense	9332			acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649512G>C	Z22968	Z22968	CCDS8578.1, CCDS53742.1	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575	ENSG00000177575	ENSG00000177575		"CD molecules"	"CD molecules"	1631	1631	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605545	605545	"CD163 antigen"		"CD163 antigen"			10403791, 8370408	10403791, 8370408	Standard	Standard	NM_004244	NM_004244		Approved	M130, MM130	uc001qsz.3	uc001qsz.3	Q86VB7	Q86VB7	OTTHUMG00000168353	OTTHUMG00000168353	ENST00000359156.4:c.996C>G	12.37:g.7649512G>C	ENSP00000352071:p.Ser332Arg		CD163_ENST00000396620.3_Missense_Mutation_p.S332R|CD163_ENST00000541972.1_Missense_Mutation_p.S320R|CD163_ENST00000432237.2_Missense_Mutation_p.S332R	p.S332R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			5	1198	-			332	SRCR 3.	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.996C>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974559	0.34848	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.03	-4.84	0.03151	5.03	-4.84	0.03151	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.110760	0.06454	N	0.728203	T	0.24431	0.0592	N	0.17872	0.535	0.09310	N	1	P;B;P	0.50819	0.939;0.003;0.939	P;B;P	0.51135	0.66;0.005;0.66	T	0.28650	-1.0037	10	0.33141	T	0.24	.	7.7812	0.29066	0.4294:0.0:0.4558:0.1147	.	332;332;332	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	332;320;332;332	ENSP00000352071:S332R;ENSP00000444071:S320R;ENSP00000379863:S332R;ENSP00000403885:S332R	ENSP00000352071:S332R	S	-	3	2	2	CD163	7540779	7540779	0.000000	0.05858	0.022000	0.16811	0.784000	0.44337	-2.057000	0.01395	-0.866000	0.04068	-0.415000	0.06103	AGC		0.488	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2		82.483798	-13	-13	52	52	NM_004244, NM_203416		25	83.03241	83.03241	15	0.625	0	0	0	1	0	25	15	0.625	C	7649512	G	C	7649512	3	2	45	1	0	0	0	0	1	0	0	0	2967	1078	38	5	2522	5	CD163	12	7649512	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		7649512	126202383	13	833											
KIF7	374654	broad.mit.edu	37	15	90185583	90185583	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr15:90185583delC	ENST00000394412.3	-	11	2321	c.2245delG	c.(2245-2247)gagfs	p.E749fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	749	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCCTCCTGCTCCAGCTCCCGG	0.667																																						ENST00000394412.3											0			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2245-2247)gagfs	kinesin family member 7						15	15	15					15																	90185583		2198	4298	6496	SO:0001589	frameshift_variant	374654			microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90185583delC	AY358384	AY358384	CCDS32325.2	CCDS32325.2	15q26.1	2011-06-02			2011-06-02			ENSG00000166813	ENSG00000166813	ENSG00000166813	ENSG00000166813		"Kinesins"	"Kinesins"	30497	30497	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611254	611254						11416179, 15547730	11416179, 15547730	Standard	Standard	NM_198525	NM_198525		Approved	JBTS12	uc002bof.2	uc002bof.2	Q2M1P5	Q2M1P5	OTTHUMG00000157177	OTTHUMG00000157177	ENST00000394412.3:c.2245delG	15.37:g.90185583delC	ENSP00000377934:p.Glu749fs			p.E749fs	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		11	2321	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		749		Q3SXY0|Q6UXE9|Q8IW72	Frame_Shift_Del	DEL	ENST00000394412.3	37	c.2245delG	CCDS32325.2																																																																																									0.667	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	.	.	8	8	15	15	NM_198525		2			4	0.33						2	4	0.33	-	90185583	C	-	90185583	7	5	45	1	0	1	0	1	0	0	0	0	8309	864	30	0	1822	0	KIF7	15	90185583	Frame_Shift_Del	DEL	C	TCGA-VD-A8KG-01A-11D-A39W-08		90185583	12345809	14	834											
DVL2	1856	broad.mit.edu	37	17	7133647	7133647	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr17:7133647C>T	ENST00000005340.5	-	3	649	c.367G>A	c.(367-369)Gag>Aag	p.E123K	DVL2_ENST00000575458.1_Missense_Mutation_p.E123K|DVL2_ENST00000574642.1_5'UTR	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	123					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTGGTCCTCTCGGGTGGCAAA	0.617																																						ENST00000005340.5											0			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(367-369)Gag>Aag	dishevelled segment polarity protein 2						80	89	86					17																	7133647		2203	4300	6503	SO:0001583	missense	1856			canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7133647C>T	BC014844	BC014844	CCDS11091.1	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975	ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	"Dishevelled homologs"	3086	3086	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602151	602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"		"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	8662242	Standard	Standard	NM_004422	NM_004422		Approved		uc002gez.1	uc002gez.1	O14641	O14641	OTTHUMG00000102155	OTTHUMG00000102155	ENST00000005340.5:c.367G>A	17.37:g.7133647C>T	ENSP00000005340:p.Glu123Lys		DVL2_ENST00000575458.1_Missense_Mutation_p.E123K|DVL2_ENST00000574642.1_5'UTR	p.E123K	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			3	649	-			123		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.367G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884765	0.91814	.	.	ENSG00000004975	ENST00000005340	T	0.05319	3.46	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	M	0.76838	2.35	0.58432	D	0.999996	D;D;D;D	0.89917	0.999;0.999;1.0;0.997	D;P;D;P	0.78314	0.972;0.89;0.991;0.833	T	0.00313	-1.1825	10	0.44086	T	0.13	-21.3078	14.4834	0.67599	0.0:1.0:0.0:0.0	.	30;123;123;123	B4DM44;B4DLQ0;B4E2D6;O14641	.;.;.;DVL2_HUMAN	K	123	ENSP00000005340:E123K	ENSP00000005340:E123K	E	-	1	0	0	DVL2	7074371	7074371	1.000000	0.71417	0.989000	0.46669	0.818000	0.46254	7.459000	0.80802	2.492000	0.84095	0.609000	0.83330	GAG		0.617	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2		83.448029	-13	-13	87	87	NM_004422		26	83.509854	83.509854	30	0.464286	0	0	0	1	0	26	30	0.464286	T	7133647	C	T	7133647	3	4	45	1	0	0	0	0	1	0	0	0	4836	893	31	1	1895	1	DVL2	17	7133647	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		7133647	74061563	15	835											
CYTSB	92521	broad.mit.edu	37	17	20108455	20108455	+	Missense_Mutation	SNP	G	G	A	rs367591049		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr17:20108455G>A	ENST00000261503.5	+	4	1144	c.1093G>A	c.(1093-1095)Gta>Ata	p.V365I	SPECC1_ENST00000395529.3_Missense_Mutation_p.V365I|SPECC1_ENST00000395527.4_Missense_Mutation_p.V365I|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.V284I|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395530.2_Missense_Mutation_p.V284I|SPECC1_ENST00000395525.3_Missense_Mutation_p.V284I|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000584527.1_5'Flank	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	365	Ser-rich.				cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCCAAACAGCGTAAGTGAATT	0.473																																						ENST00000395530.2											0			breast(1)|large_intestine(3)|ovary(4)	8						c.(850-852)Gta>Ata	sperm antigen with calponin homology and coiled-coil domains 1	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	110	118	116		1093,850,850,1093	3.2	0	17		116	1,8599		0,1,4299	no	missense,missense,missense,missense	SPECC1	NM_152904.4,NM_001033555.2,NM_001033554.2,NM_001033553.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	365/791,284/988,284/710,365/1069	20108455	1,13005	2203	4300	6503	SO:0001583	missense	92521				nucleus		g.chr17:20108455G>A	AY816329, AB041533	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487	ENSG00000128487	ENSG00000128487				30615	30615	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793	608793						15602574, 18763323, 15087372	15602574, 18763323, 15087372	Standard	Standard	NM_001033553	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	uc002gwq.3	Q5M775	Q5M775	OTTHUMG00000179808	OTTHUMG00000179808	ENST00000261503.5:c.1093G>A	17.37:g.20108455G>A	ENSP00000261503:p.Val365Ile		SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.V284I|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Missense_Mutation_p.V365I|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.V365I|SPECC1_ENST00000395527.4_Missense_Mutation_p.V365I|SPECC1_ENST00000395522.2_Missense_Mutation_p.V284I	p.V284I	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1058	+			365	Ser-rich.	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.850G>A	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.106177	0.00356	0.0	1.16E-4	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	5.38	3.22	0.36961	5.38	3.22	0.36961	.	1.379630	0.04502	N	0.381470	T	0.03095	0.0091	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.003;0.003;0.003;0.001	B;B;B;B;B	0.10450	0.001;0.002;0.005;0.003;0.001	T	0.41627	-0.9498	10	0.19590	T	0.45	-0.5243	6.0425	0.19742	0.3356:0.0:0.6644:0.0	.	365;284;284;365;365	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	I	365;365;365;284;284;284	ENSP00000261503:V365I;ENSP00000378900:V365I;ENSP00000378893:V284I;ENSP00000378896:V284I	ENSP00000261503:V365I	V	+	1	0	0	SPECC1	20049047	20049047	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.601000	0.36773	0.729000	0.32403	0.655000	0.94253	GTA		0.473	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1		0.555028	-28	-28	92	92	NM_152904		7	16.696593	16.696593	82	0.078652	0	0	0	1	0	7	82	0.078652	A	20108455	G	A	20108455	3	1	45	1	0	0	0	0	1	0	0	0	4210	1145	40	1	1147	1	CYTSB	17	20108455	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08	12974808	20108455	61086755	16	836											
ST8SIA3	51046	broad.mit.edu	37	18	55024275	55024275	+	Missense_Mutation	SNP	G	G	A	rs201032971		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr18:55024275G>A	ENST00000324000.3	+	3	2468	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	145					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AATAACTTCCGGTCACTTCTT	0.383																																						ENST00000324000.3											0			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(433-435)cGg>cAg	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	G	GLN/ARG	0,4406		0,0,2203	114	115	115		434	5.7	1	18		115	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ST8SIA3	NM_015879.2	43	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	145/381	55024275	4,13002	2203	4300	6503	SO:0001583	missense	51046			glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024275G>A	AF004668	AF004668	CCDS32834.1	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	"Sialyltransferases"	14269	14269	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ST8Sia III"	"ST8Sia III"	609478	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C				Standard	Standard	NM_015879	NM_015879		Approved		uc002lgn.3	uc002lgn.3	O43173	O43173	OTTHUMG00000180101	OTTHUMG00000180101	ENST00000324000.3:c.434G>A	18.37:g.55024275G>A	ENSP00000320431:p.Arg145Gln			p.R145Q	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	2468	+			145		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.434G>A	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415396	0.42817	0.0	4.65E-4	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.29655	1.56	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.051831	0.85682	D	0.000000	T	0.28699	0.0711	L	0.47716	1.5	0.49687	D	0.999819	P	0.48407	0.91	B	0.35470	0.203	T	0.09400	-1.0676	10	0.51188	T	0.08	-9.2619	19.5308	0.95228	0.0:0.0:1.0:0.0	.	145	O43173	SIA8C_HUMAN	Q	252;145	ENSP00000320431:R145Q	ENSP00000320431:R145Q	R	+	2	0	0	ST8SIA3	53175273	53175273	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.487000	0.60293	2.715000	0.92844	0.655000	0.94253	CGG		0.383	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1		79.330365	-15	-15	99	99	NM_015879		26	81.002892	81.002892	50	0.342105	0	0	0	1	0	26	50	0.342105	A	55024275	G	A	55024275	3	1	45	1	0	0	0	0	1	0	0	0	15232	1116	39	1	444	1	ST8SIA3	18	55024275	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		55024275	23052973	17	837											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		43.850190	-1	-1	80	80	NM_002067		14	43.912763	43.912763	17	0.451613	0	0	0	1	0	14	17	0.451613	T	3118942	A	T	3118942	3	4	45	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08		3118942	56010041	18	838											
DSCAM	1826	broad.mit.edu	37	21	42064866	42064866	+	Nonsense_Mutation	SNP	A	A	T			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chr21:42064866A>T	ENST00000400454.1	-	3	855	c.378T>A	c.(376-378)taT>taA	p.Y126*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	126	Ig-like C2-type 1.|Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACGGACTGTATAGGGCTCCC	0.498																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1											0			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(376-378)taT>taA	Down syndrome cell adhesion molecule						109	107	108					21																	42064866		2023	4177	6200	SO:0001587	stop_gained	1826			cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42064866A>T	AF023449	AF023449	CCDS42929.1	CCDS42929.1	21q22.2-q22.3	2013-02-11			2013-02-11			ENSG00000171587	ENSG00000171587	ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	3039	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602523	602523						9426258	9426258	Standard	Standard	NM_001271534	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	uc002yyq.1	O60469	O60469	OTTHUMG00000086732	OTTHUMG00000086732	ENST00000400454.1:c.378T>A	21.37:g.42064866A>T	ENSP00000383303:p.Tyr126*			p.Y126*	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN			3	855	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	126	Ig-like C2-type 1.|Ig-like C2-type 2.	O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.378T>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	43	9.994410	0.99313	.	.	ENSG00000171587	ENST00000400454	.	.	.	5.93	3.58	0.41010	5.93	3.58	0.41010	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4685	0.32971	0.7908:0.0:0.2092:0.0	.	.	.	.	X	126	.	ENSP00000383303:Y126X	Y	-	3	2	2	DSCAM	40986736	40986736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.917000	0.39996	0.504000	0.28082	0.533000	0.62120	TAT		0.498	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		34.045141	-16	-16	59	59	NM_001389		19	48.308229	48.308229	105	0.153226	0	0	0	1	0	19	105	0.153226	T	42064866	A	T	42064866	4	4	45	1	0	0	0	0	0	1	0	0	4768	456	16	5	5784	5	DSCAM	21	42064866	Nonsense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08		42064866	6065029	19	839											
SMC1A	8243	broad.mit.edu	37	X	53410065	53410065	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chrX:53410065A>G	ENST00000322213.4	-	20	3210	c.3083T>C	c.(3082-3084)aTg>aCg	p.M1028T	SMC1A_ENST00000469129.1_5'Flank	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1028					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGCTTTTCCATGGCCTTCAT	0.507																																						ENST00000322213.4											0			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(3082-3084)aTg>aCg	structural maintenance of chromosomes 1A						119	90	100					X																	53410065		2203	4300	6503	SO:0001583	missense	8243			cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53410065A>G	S78271	S78271	CCDS14352.1, CCDS75985.1	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	"Structural maintenance of chromosomes proteins"	11111	11111	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300040	300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	7757074	Standard	Standard	NM_006306	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	uc004dsg.3	Q14683	Q14683	OTTHUMG00000021614	OTTHUMG00000021614	ENST00000322213.4:c.3083T>C	X.37:g.53410065A>G	ENSP00000323421:p.Met1028Thr			p.M1028T	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			20	3210	-			1028		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.3083T>C	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.475957	0.44044	.	.	ENSG00000072501	ENST00000322213	T	0.76709	-1.04	5.36	5.36	0.76844	5.36	5.36	0.76844	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	L	0.55213	1.73	0.80722	D	1	B	0.21688	0.059	B	0.20184	0.028	T	0.71020	-0.4713	10	0.49607	T	0.09	.	13.367	0.60689	1.0:0.0:0.0:0.0	.	1028	Q14683	SMC1A_HUMAN	T	1028	ENSP00000323421:M1028T	ENSP00000323421:M1028T	M	-	2	0	0	SMC1A	53426790	53426790	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.346000	0.79347	1.798000	0.52647	0.430000	0.28490	ATG		0.507	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2		45.548485	-7	-7	35	35	NM_006306		14	45.577411	45.577411	16	0.466667	0	0	0	1	0	14	16	0.466667	G	53410065	A	G	53410065	3	3	45	1	0	0	0	0	1	0	0	0	14781	217	8	4	642	4	SMC1A	23	53410065	Missense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08		53410065	101860495	20	840											
FRMD7	90167	broad.mit.edu	37	X	131212668	131212668	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chrX:131212668T>C	ENST00000298542.4	-	12	1552	c.1377A>G	c.(1375-1377)atA>atG	p.I459M	FRMD7_ENST00000370879.1_Missense_Mutation_p.I339M|FRMD7_ENST00000464296.1_Missense_Mutation_p.I444M	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	459					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGCCAGAATATATGCTCATGT	0.453																																						ENST00000298542.4											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1375-1377)atA>atG	FERM domain containing 7						174	164	167					X																	131212668		2203	4300	6503	SO:0001583	missense	90167			regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212668T>C	AL161984	AL161984	CCDS35397.1	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694	ENSG00000165694	ENSG00000165694				8079	8079	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300628	300628	"nystagmus 1, congenital"	NYS, NYS1	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	2063919, 17013395	Standard	Standard	NM_194277	NM_194277		Approved	FLJ43346	uc004ewn.3	uc004ewn.3	Q6ZUT3	Q6ZUT3	OTTHUMG00000022421	OTTHUMG00000022421	ENST00000298542.4:c.1377A>G	X.37:g.131212668T>C	ENSP00000298542:p.Ile459Met		FRMD7_ENST00000464296.1_Missense_Mutation_p.I444M|FRMD7_ENST00000370879.1_Missense_Mutation_p.I339M	p.I459M	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1552	-	Acute lymphoblastic leukemia(192;0.000127)		459		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1377A>G	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	0.220	-1.029676	0.02045	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.85861	-2.04;-1.69;-1.81	5.39	1.34	0.21922	5.39	1.34	0.21922	.	0.716976	0.13440	N	0.387740	T	0.67344	0.2883	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.54748	-0.8247	10	0.44086	T	0.13	.	1.2566	0.01993	0.1252:0.2626:0.2007:0.4115	.	444;459	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	M	339;459;444	ENSP00000359916:I339M;ENSP00000298542:I459M;ENSP00000417996:I444M	ENSP00000298542:I459M	I	-	3	3	3	FRMD7	131040349	131040349	0.955000	0.32602	0.425000	0.26659	0.247000	0.25773	0.165000	0.16564	0.691000	0.31592	-0.360000	0.07572	ATA		0.453	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1		180.756382	-37	-37	186	186	NM_194277		57	183.030375	183.030375	97	0.37013	0	0	0	1	0	57	97	0.37013	C	131212668	T	C	131212668	3	2	45	1	0	0	0	0	1	0	0	0	6055	1396	49	4	771	4	FRMD7	23	131212668	Missense_Mutation	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08	77802603	131212668	24057892	21	841											
SOX3	6658	broad.mit.edu	37	X	139586345	139586347	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	g.chrX:139586345_139586347delGGC	ENST00000370536.2	-	1	878_880	c.879_881delGCC	c.(877-882)ccgccc>ccc	p.293_294PP>P		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	293	Poly-Pro.				central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					cggcagcgcgggcggcggcggcg	0.719																																						ENST00000370536.2											0			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(877-882)ccgccc>ccc	SRY (sex determining region Y)-box 3			7,1691		1,4,1,733,221						0.5	0.9			2	24,3539		2,8,12,1386,759	no	coding	SOX3	NM_005634.2		3,12,13,2119,980	A1A1,A1R,A1,RR,R		0.6736,0.4122,0.5892				31,5230				SO:0001651	inframe_deletion	6658			face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586345_139586347delGGC			CCDS14669.1	CCDS14669.1	Xq27.1	2013-10-17			2013-10-17			ENSG00000134595	ENSG00000134595	ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	"SRY (sex determining region Y)-boxes"	11199	11199	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			313430	313430	"panhypopituitarism"	PHP	"panhypopituitarism"	PHP		15800844	15800844	Standard	Standard	NM_005634	NM_005634		Approved		uc004fbd.1	uc004fbd.1	P41225	P41225	OTTHUMG00000022544	OTTHUMG00000022544	ENST00000370536.2:c.879_881delGCC	X.37:g.139586354_139586356delGGC	ENSP00000359567:p.Pro294del			p.293_294PP>P	NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN			1	878_880	-	Acute lymphoblastic leukemia(192;7.65e-05)		293	Poly-Pro.	P35714|Q5JWI3|Q9NP49	In_Frame_Del	DEL	ENST00000370536.2	37	c.879_881delGCC	CCDS14669.1																																																																																									0.719	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1	.	.	9	9	13	13			2			4	0.33						2	4	0.33	-	139586347	GGC	-	139586345	7	5	45	1	0	1	0	1	0	0	0	0	14951	1232	43	0	463	0	SOX3	23	139586345	In_Frame_Del	DEL	GGC	TCGA-VD-A8KG-01A-11D-A39W-08	8373677	139586345	15684215	22	842											
CD160	11126	broad.mit.edu	37	1	145706743	145706743	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr1:145706743C>A	ENST00000369288.2	-	3	233	c.16G>T	c.(16-18)Ggc>Tgc	p.G6C	CD160_ENST00000401557.3_Missense_Mutation_p.G6C|CD160_ENST00000235933.6_Missense_Mutation_p.G6C|CD160_ENST00000369290.1_Missense_Mutation_p.G6C	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	6					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CAGCCTCTGCCGGGTTCCAAC	0.577																																					Colon(182;1122 1999 4065 44014 53024)	ENST00000369290.1											0			endometrium(3)|large_intestine(2)|lung(2)	7						c.(16-18)Ggc>Tgc	CD160 molecule						66	62	63					1																	145706743		2203	4300	6503	SO:0001583	missense	11126			cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145706743C>A	AF060981	AF060981	CCDS72861.1	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281	ENSG00000117281	ENSG00000117281		"CD molecules"	"CD molecules"	17013	17013	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604463	604463	"CD160 antigen"		"CD160 antigen"			9743336, 9973372	9743336, 9973372	Standard	Standard	NM_007053	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	uc001eol.1	O95971	O95971	OTTHUMG00000013749	OTTHUMG00000013749	ENST00000369288.2:c.16G>T	1.37:g.145706743C>A	ENSP00000358294:p.Gly6Cys		CD160_ENST00000235933.6_Missense_Mutation_p.G6C|CD160_ENST00000369288.2_Missense_Mutation_p.G6C|CD160_ENST00000401557.3_Missense_Mutation_p.G6C	p.G6C			O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		2	173	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		6			Missense_Mutation	SNP	ENST00000369288.2	37	c.16G>T	CCDS923.1	.	.	.	.	.	.	.	.	.	.	C	9.058	0.993681	0.19043	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000369290;ENST00000401557	T;T;T	0.64085	-0.08;-0.08;-0.08	3.68	0.462	0.16695	3.68	0.462	0.16695	.	0.204155	0.24654	N	0.036687	T	0.25791	0.0628	L	0.29908	0.895	0.09310	N	1	P;B	0.51351	0.944;0.328	B;B	0.42771	0.397;0.077	T	0.18398	-1.0338	10	0.87932	D	0	-4.0964	2.8773	0.05635	0.2176:0.5364:0.0:0.246	.	6;6	Q5T2V6;O95971	.;BY55_HUMAN	C	6	ENSP00000235933:G6C;ENSP00000358294:G6C;ENSP00000385199:G6C	ENSP00000235933:G6C	G	-	1	0	0	CD160	144418100	144418100	0.051000	0.20477	0.068000	0.19968	0.045000	0.14185	0.726000	0.25984	0.369000	0.24510	-0.140000	0.14226	GGC		0.577	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2		0.197941	-6	-6	47	47	NM_007053		3	6.812117	6.812117	34	0.081081	1	0	1	1	1	3	34	0.081081	A	145706743	C	A	145706743	3	1	46	1	0	0	0	0	1	0	0	0	2966	652	23	5	545	5	CD160	1	145706743	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		145706743	103543878	1	843											
PSEN2	5664	broad.mit.edu	37	1	227071592	227071592	+	Missense_Mutation	SNP	C	C	T	rs199808788		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr1:227071592C>T	ENST00000366783.3	+	5	764	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	PSEN2_ENST00000391872.2_Missense_Mutation_p.R143C|PSEN2_ENST00000422240.2_Missense_Mutation_p.R110C|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000340188.4_Missense_Mutation_p.R110C|PSEN2_ENST00000366782.1_Missense_Mutation_p.R143C	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	110					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CAAGTCTGTGCGCTTCTACAC	0.602																																						ENST00000366782.1											0			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20						c.(427-429)Cgc>Tgc	presenilin 2 (Alzheimer disease 4)						97	88	91					1																	227071592		2203	4300	6503	SO:0001583	missense	5664			amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227071592C>T	BC006365	BC006365	CCDS1556.1, CCDS44324.1	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801	ENSG00000143801	ENSG00000143801				9509	9509	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600759	600759	"Alzheimer disease 4"	AD4	"Alzheimer disease 4"	AD4		7638621	7638621	Standard	Standard	NM_000447	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	uc009xeo.1	P49810	P49810	OTTHUMG00000037563	OTTHUMG00000037563	ENST00000366783.3:c.328C>T	1.37:g.227071592C>T	ENSP00000355747:p.Arg110Cys		PSEN2_ENST00000366783.3_Missense_Mutation_p.R110C|PSEN2_ENST00000422240.2_Missense_Mutation_p.R110C|PSEN2_ENST00000340188.4_Missense_Mutation_p.R110C|PSEN2_ENST00000391872.2_Missense_Mutation_p.R143C	p.R143C			P49810	PSN2_HUMAN			5	927	+		Prostate(94;0.0771)	110		A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	c.427C>T	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143501	0.77888	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000495488;ENST00000422240;ENST00000366782;ENST00000391872	D;D;D;D;D;D	0.99537	-6.11;-6.11;-6.11;-6.11;-6.11;-6.11	5.49	4.55	0.56014	5.49	4.55	0.56014	.	0.043981	0.85682	D	0.000000	D	0.99205	0.9724	L	0.48642	1.525	0.54753	D	0.999989	D;D	0.69078	0.997;0.997	P;P	0.61658	0.892;0.892	D	0.99010	1.0814	10	0.72032	D	0.01	.	13.1833	0.59668	0.2903:0.7097:0.0:0.0	.	110;110	A8K8D4;P49810	.;PSN2_HUMAN	C	110;110;110;110;143;143	ENSP00000355747:R110C;ENSP00000339860:R110C;ENSP00000429682:R110C;ENSP00000403737:R110C;ENSP00000355746:R143C;ENSP00000375745:R143C	ENSP00000339860:R110C	R	+	1	0	0	PSEN2	225138215	225138215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.474000	0.53129	1.274000	0.44362	0.650000	0.86243	CGC		0.602	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1		-16.787620	-13	-13	83	83	NM_000447		4	7.43911	7.43911	101	0.038095	0	0	0	1	0	4	101	0.038095	T	227071592	C	T	227071592	3	4	46	1	0	0	0	0	1	0	0	0	12651	768	27	1	334	1	PSEN2	1	227071592	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08	81364849	227071592	22179029	2	844											
OBSCN	84033	ucsc.edu	37	1	228521350	228521350	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr1:228521350G>A	ENST00000422127.1	+	59	15967	c.15923G>A	c.(15922-15924)cGc>cAc	p.R5308H	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2942H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6265H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5308H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2427H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5308	Ig-like 50.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCACATCCGCATGACTGAC	0.592																																																	0																	55	60	58					1																	228521350		2115	4229	6344	SO:0001583	missense	84033							AJ002535	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			2014-09-17			ENSG00000154358	ENSG00000154358	ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	15719	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608616	608616						11448995, 11814696	11448995, 11814696	Standard	Standard	NM_001098623	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	uc001hsq.2	Q5VST9	Q5VST9	OTTHUMG00000039772	OTTHUMG00000039772	ENST00000422127.1:c.15923G>A	1.37:g.228521350G>A	ENSP00000409493:p.Arg5308His																	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37		CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	9.944	1.218310	0.22373	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.86	-1.45	0.08828	5.86	-1.45	0.08828	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.470562	0.20918	N	0.083335	T	0.38348	0.1037	N	0.16862	0.45	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.12630	-1.0540	10	0.15066	T	0.55	.	3.6812	0.08310	0.2763:0.0764:0.4946:0.1527	.	5308;5308	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	5308;5308;2942;2427	ENSP00000284548:R5308H;ENSP00000409493:R5308H;ENSP00000355668:R2942H;ENSP00000355670:R2427H	ENSP00000284548:R5308H	R	+	2	0	0	OBSCN	226587973	226587973	0.476000	0.25901	0.018000	0.16275	0.001000	0.01503	0.848000	0.27710	-0.326000	0.08564	-2.034000	0.00421	CGC		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				-5	-5	16	16	NM_052843		4			13							4	13		A	228521350	G	A	228521350	3	1	46	1	0	0	0	0	1	0	0	0	10812	1087	38	1	16153	1	OBSCN	1	228521350	Missense_Mutation	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08	1449758	228521350	20729271	3	845											
MYO3B	140469	hgsc.bcm.edu	37	2	171356174	171356174	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr2:171356174C>T	ENST00000408978.4	+	27	3288	c.3145C>T	c.(3145-3147)Cat>Tat	p.H1049Y	MYO3B_ENST00000334231.6_Missense_Mutation_p.H1058Y|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.H1049Y	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1049	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.H1049D(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAAATATTACCATGTTGAGCA	0.398																																																	1	Substitution - Missense(1)	ovary(1)															82	77	78					2																	171356174		1871	4109	5980	SO:0001583	missense	140469									CCDS42773.1, CCDS46446.1	CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			2011-09-27			ENSG00000071909	ENSG00000071909	ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	"Myosins / Myosin superfamily : Class III"	15576	15576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610040	610040								Standard	Standard	NM_001083615	NM_001083615		Approved		uc002ufy.3	uc002ufy.3	Q8WXR4	Q8WXR4	OTTHUMG00000154002	OTTHUMG00000154002	ENST00000408978.4:c.3145C>T	2.37:g.171356174C>T	ENSP00000386213:p.His1049Tyr																	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37		CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792220	0.90453	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.70986	-0.53;1.56;-0.53;1.56	5.78	5.78	0.91487	5.78	5.78	0.91487	Myosin head, motor domain (1);	0.044994	0.85682	D	0.000000	D	0.87172	0.6111	M	0.87381	2.88	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.994;0.999	D	0.88290	0.2942	10	0.72032	D	0.01	.	20.0278	0.97529	0.0:1.0:0.0:0.0	.	1049;1049;1049	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	Y	1049;1049;1048;1058;1058	ENSP00000386497:H1049Y;ENSP00000386213:H1049Y;ENSP00000446237:H1058Y;ENSP00000335100:H1058Y	ENSP00000314213:H1048Y	H	+	1	0	0	MYO3B	171064420	171064420	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.438000	0.80431	2.732000	0.93576	0.655000	0.94253	CAT		0.398	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			-11	-11	37	37			16			23							16	23		T	171356174	C	T	171356174	3	4	46	1	0	0	0	0	1	0	0	0	10077	594	21	3	3251	3	MYO3B	2	171356174	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		171356174	71843199	4	846											
TTN	7273	broad.mit.edu	37	2	179427170	179427170	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr2:179427170C>A	ENST00000591111.1	-	276	78990	c.78766G>T	c.(78766-78768)Ggt>Tgt	p.G26256C	TTN_ENST00000342992.6_Missense_Mutation_p.G25329C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G19024C|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18832C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18957C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G27897C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26256	Fibronectin type-III 91. {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)			ACCACATAACCAGTAATTTTG	0.443																																						ENST00000589042.1											0			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						c.(83689-83691)Ggt>Tgt	titin						72	73	72					2																	179427170		1936	4149	6085	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427170C>A	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.78766G>T	2.37:g.179427170C>A	ENSP00000465570:p.Gly26256Cys		TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26256C|TTN_ENST00000342175.6_Missense_Mutation_p.G19024C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18957C|TTN_ENST00000342992.6_Missense_Mutation_p.G25329C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18832C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.G27897C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	83913	-			26256	Fibronectin type-III 103.	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.83689G>T		.	.	.	.	.	.	.	.	.	.	C	10.58	1.389050	0.25118	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.89	5.01	0.66863	5.89	5.01	0.66863	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75867	0.3908	M	0.85630	2.765	0.34300	D	0.684187	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72625	0.978;0.978;0.978;0.968	D	0.84632	0.0690	9	0.87932	D	0	.	9.9879	0.41852	0.1388:0.7925:0.0:0.0687	.	18832;18957;19024;26256	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	25329;18832;19024;18957;18830	ENSP00000343764:G25329C;ENSP00000434586:G18832C;ENSP00000340554:G19024C;ENSP00000352154:G18957C	ENSP00000340554:G19024C	G	-	1	0	0	TTN	179135416	179135416	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.239000	0.43079	1.473000	0.48159	0.655000	0.94253	GGT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		-3.715808	-6	-6	38	38	NM_133378		3	6.406204	6.406204	47	0.06	1	0	1	1	1	3	47	0.06	A	179427170	C	A	179427170	3	1	46	1	0	0	0	0	1	0	0	0	16732	594	21	5	24438	5	TTN	2	179427170	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08	8070996	179427170	63772203	5	847											
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95	92	93					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		69.514775	-11	-11	44	44			23	69.904678	69.904678	33	0.410714	0	0	0	1	0	23	33	0.410714	T	198267483	C	T	198267483	3	4	46	1	0	0	0	0	1	0	0	0	14149	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08	18840313	198267483	44931890	6	848											
SLC12A9	56996	broad.mit.edu	37	7	100460341	100460342	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr7:100460341_100460342insT	ENST00000354161.3	+	13	1875_1876	c.1750_1751insT	c.(1750-1752)gcafs	p.A584fs	SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.A495fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.A584fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.A495fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.A584fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	584					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCAGTATGGGGCATGGCTCAGC	0.574																																						ENST00000354161.3											0			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1750-1752)gcafs	solute carrier family 12, member 9																																			SO:0001589	frameshift_variant	56996				integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100460341_100460342insT	AF284422	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828	ENSG00000146828	ENSG00000146828		"Solute carriers"	"Solute carriers"	17435	17435	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cation-chloride cotransporter-interacting protein"	"cation-chloride cotransporter-interacting protein"								10871601, 11239002	10871601, 11239002	Standard	Standard	NM_020246	NM_020246		Approved	CIP1	uc003uwp.4	uc003uwp.4	Q9BXP2	Q9BXP2	OTTHUMG00000156045	OTTHUMG00000156045	Exception_encountered	7.37:g.100460341_100460342insT	ENSP00000275730:p.Ala584fs		SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.A495fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.A495fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.A584fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.A584fs	p.A584fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			13	1875_1876	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		584		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	c.1750_1751insT	CCDS5707.1																																																																																									0.574	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	.	.	0	0	70	70	NM_020246		19			44	0.3						19	44	0.3	T	100460342	-	T	100460341	7	5	46	1	0	1	1	0	0	0	0	0	14390	1203	42	0	1796	0	SLC12A9	7	100460341	Frame_Shift_Ins	INS	-	TCGA-VD-A8KH-01A-11D-A39W-08		100460341	58678322	7	849											
PPP1R3B	79660	broad.mit.edu	37	8	8998589	8998589	+	Silent	SNP	C	C	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr8:8998589C>T	ENST00000310455.3	-	2	723	c.573G>A	c.(571-573)acG>acA	p.T191T	PPP1R3B_ENST00000519699.1_Silent_p.T191T|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	191	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		CGAAGGAGAACGTGTCCCTGT	0.483																																						ENST00000310455.3											0			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(571-573)acG>acA	protein phosphatase 1, regulatory subunit 3B						206	170	182					8																	8998589		2203	4300	6503	SO:0001819	synonymous_variant	79660			glycogen metabolic process			g.chr8:8998589C>T	AK024067	AK024067	CCDS5973.1	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281	ENSG00000173281	ENSG00000173281		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14942	14942	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	"PP1 subunit R4", "hepatic glycogen-targeting subunit, G(L)"	610541	610541	"protein phosphatase 1, regulatory (inhibitor) subunit 3B"		"protein phosphatase 1, regulatory (inhibitor) subunit 3B"			11948623, 17555403	11948623, 17555403	Standard	Standard	NM_024607	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	uc003wsn.4	Q86XI6	Q86XI6	OTTHUMG00000129329	OTTHUMG00000129329	ENST00000310455.3:c.573G>A	8.37:g.8998589C>T			PPP1R3B_ENST00000519699.1_Silent_p.T191T	p.T191T	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	723	-			191	CBM21.	B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.573G>A	CCDS5973.1																																																																																									0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1		112.693498	-19	-19	60	60	NM_024607		37	112.820906	112.820906	44	0.45679	0	0	0	1	0	37	44	0.45679	T	8998589	C	T	8998589	2	4	46	1	0	0	0	0	0	0	0	1	12372	523	19	1		1	PPP1R3B	8	8998589	Silent	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		8998589	137365433	8	850											
NCOA2	10499	broad.mit.edu	37	8	71050447	71050447	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr8:71050447C>T	ENST00000452400.2	-	15	3330	c.3149G>A	c.(3148-3150)aGc>aAc	p.S1050N	NCOA2_ENST00000267974.4_Missense_Mutation_p.S138N	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1050					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CCTGTTTTGGCTGGCAAAAGA	0.488			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																	ENST00000452400.2		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0			NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(3148-3150)aGc>aAc	nuclear receptor coactivator 2						77	78	77					8																	71050447		1884	4096	5980	SO:0001583	missense	10499			cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71050447C>T	X97674	X97674	CCDS47872.1	CCDS47872.1	8q13.3	2011-07-01			2011-07-01			ENSG00000140396	ENSG00000140396	ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	7669	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601993	601993						9111344, 8670870	9111344, 8670870	Standard	Standard	XM_005251128	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	uc003xyn.1	Q15596	Q15596	OTTHUMG00000164671	OTTHUMG00000164671	ENST00000452400.2:c.3149G>A	8.37:g.71050447C>T	ENSP00000399968:p.Ser1050Asn		NCOA2_ENST00000267974.4_Missense_Mutation_p.S138N	p.S1050N	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		15	3330	-	Breast(64;0.201)		1050		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3149G>A	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.459|5.459	0.269832|0.269832	0.10349|0.10349	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.06933	.|4.74;3.24	5.88|5.88	0.93|0.93	0.19454|0.19454	5.88|5.88	0.93|0.93	0.19454|0.19454	.|.	.|0.493833	.|0.25383	.|N	.|0.031074	T|T	0.02888|0.02888	0.0086|0.0086	N|N	0.03000|0.03000	-0.44|-0.44	0.25544|0.25544	N|N	0.987155|0.987155	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.0	T|T	0.46610|0.46610	-0.9179|-0.9179	5|10	.|0.07644	.|T	.|0.81	.|.	11.1292|11.1292	0.48336|0.48336	0.0:0.4623:0.0:0.5377|0.0:0.4623:0.0:0.5377	.|.	.|138;1050	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	T|N	151|1050;138	.|ENSP00000399968:S1050N;ENSP00000267974:S138N	.|ENSP00000267974:S138N	A|S	-|-	1|2	0|0	0|0	NCOA2|NCOA2	71213001|71213001	71213001|71213001	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.955000|0.955000	0.61496|0.61496	1.358000|1.358000	0.34102|0.34102	-0.111000|-0.111000	0.12001|0.12001	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.488	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		60.539030	-10	-10	26	26			19	60.59709	60.59709	16	0.542857	0	0	0	1	0	19	16	0.542857	T	71050447	C	T	71050447	3	4	46	1	0	0	0	0	1	0	0	0	10229	797	28	2	1281	2	NCOA2	8	71050447	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08	62051858	71050447	75313575	9	851											
MMP20	9313	broad.mit.edu	37	11	102487572	102487572	+	Silent	SNP	G	G	C			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr11:102487572G>C	ENST00000260228.2	-	2	357	c.345C>G	c.(343-345)ccC>ccG	p.P115P	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	113					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P115P(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TTTTCCATTTGGGTTCACCAG	0.418																																						ENST00000260228.2											1	Substitution - coding silent(1)	lung(1)	endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(343-345)ccC>ccG	matrix metallopeptidase 20						96	85	89					11																	102487572		2203	4299	6502	SO:0001819	synonymous_variant	9313			proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102487572G>C	Y12779	Y12779	CCDS8318.1	CCDS8318.1	11q22.3	2008-05-22	2008-05-22		2008-05-22	2008-05-22			ENSG00000137674		ENSG00000137674				7167	7167	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"enamelysin"	"enamelysin"	604629	604629	"matrix metalloproteinase 20 (enamelysin)"		"matrix metalloproteinase 20 (enamelysin)"			9398237	9398237	Standard	Standard	NM_004771	NM_004771		Approved		uc001phc.3	uc001phc.3	O60882	O60882			ENST00000260228.2:c.345C>G	11.37:g.102487572G>C			RP11-817J15.2_ENST00000542119.1_RNA	p.P115P	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	2	357	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	115		D3DUA8|Q9H3Q0	Silent	SNP	ENST00000260228.2	37	c.345C>G	CCDS8318.1																																																																																									0.418	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1		53.336514	-11	-11	35	35			18	53.470444	53.470444	23	0.439024	0	0	0	1	0	18	23	0.439024	C	102487572	G	C	102487572	2	2	46	1	0	0	0	0	0	0	0	1	9659	1335	47	5		5	MMP20	11	102487572	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		102487572	32518944	10	852											
PDE3A	5139	broad.mit.edu	37	12	20766410	20766410	+	Missense_Mutation	SNP	G	G	A	rs150253039		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr12:20766410G>A	ENST00000359062.3	+	3	1085	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	349					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.V349I(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGACATCGCCGTCATGGGCGA	0.517													G|||	1	0.000199681	0	0.0014	5008	,	,		18125	0		0	False		,,,				2504	0					ENST00000359062.3											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1045-1047)Gtc>Atc	phosphodiesterase 3A, cGMP-inhibited	G	ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	94	85	88		1045	5.9	1	12	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PDE3A	NM_000921.4	29	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	probably-damaging	349/1142	20766410	8,12998	2203	4300	6503	SO:0001583	missense	5139			lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766410G>A			CCDS31754.1	CCDS31754.1	12p12.2	2011-04-15			2011-04-15			ENSG00000172572	ENSG00000172572	ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	"Phosphodiesterases"	8778	8778	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			123805	123805						1315035, 10679291	1315035, 10679291	Standard	Standard	NM_000921	NM_000921		Approved	CGI-PDE	uc001reh.2	uc001reh.2	Q14432	Q14432	OTTHUMG00000168962	OTTHUMG00000168962	ENST00000359062.3:c.1045G>A	12.37:g.20766410G>A	ENSP00000351957:p.Val349Ile		PDE3A_ENST00000544307.1_3'UTR	p.V349I	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			3	1085	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	349		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1045G>A	CCDS31754.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.0	4.967825	0.92855	0.001589	1.16E-4	ENSG00000172572	ENST00000359062	T	0.55413	0.52	5.86	5.86	0.93980	5.86	5.86	0.93980	.	3.182960	0.00541	N	0.000228	T	0.78916	0.4359	M	0.71206	2.165	0.58432	D	0.999995	D	0.76494	0.999	D	0.75020	0.985	T	0.62627	-0.6814	10	0.51188	T	0.08	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	349	Q14432	PDE3A_HUMAN	I	349	ENSP00000351957:V349I	ENSP00000351957:V349I	V	+	1	0	0	PDE3A	20657677	20657677	1.000000	0.71417	0.991000	0.47740	0.671000	0.39405	8.848000	0.92172	2.937000	0.99478	0.650000	0.86243	GTC		0.517	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		-9.364453	-24	-24	56	56			4	6.990393	6.990393	73	0.051948	0	0	0	1	0	4	73	0.051948	A	20766410	G	A	20766410	3	1	46	1	0	0	0	0	1	0	0	0	11637	1145	40	1	1055	1	PDE3A	12	20766410	Missense_Mutation	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		20766410	113085485	11	853											
SKA3	221150	broad.mit.edu	37	13	21746793	21746793	+	Nonsense_Mutation	SNP	A	A	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr13:21746793A>T	ENST00000314759.5	-	2	255	c.131T>A	c.(130-132)tTa>tAa	p.L44*	SKA3_ENST00000400018.3_Nonsense_Mutation_p.L44*	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	44					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGGTCATATAAAATTCTCAT	0.279																																						ENST00000314759.5											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(130-132)tTa>tAa	spindle and kinetochore associated complex subunit 3						31	31	31					13																	21746793		2189	4267	6456	SO:0001587	stop_gained	221150			cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21746793A>T	AF361358	AF361358	CCDS31946.1, CCDS53856.1	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480	ENSG00000165480	ENSG00000165480				20262	20262	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 13 open reading frame 3"	C13orf3	"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	19387489, 19289083, 19646878, 19360002	Standard	Standard	NM_145061	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	uc001unt.3	Q8IX90	Q8IX90	OTTHUMG00000016539	OTTHUMG00000016539	ENST00000314759.5:c.131T>A	13.37:g.21746793A>T	ENSP00000319417:p.Leu44*		SKA3_ENST00000400018.3_Nonsense_Mutation_p.L44*	p.L44*	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			2	255	-			44		A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Nonsense_Mutation	SNP	ENST00000314759.5	37	c.131T>A	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	A	37	6.110145	0.97291	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	.	.	.	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.248786	0.34959	N	0.003558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9471	14.3871	0.66953	1.0:0.0:0.0:0.0	.	.	.	.	X	44	.	ENSP00000319417:L44X	L	-	2	0	0	SKA3	20644793	20644793	1.000000	0.71417	0.942000	0.38095	0.772000	0.43724	5.564000	0.67359	2.220000	0.72140	0.482000	0.46254	TTA		0.279	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1		19.218310	-6	-6	17	17	NM_145061		7	19.734768	19.734768	14	0.333333	0	0	0	1	0	7	14	0.333333	T	21746793	A	T	21746793	4	4	46	1	0	0	0	0	0	1	0	0	14354	372	13	5	1186	5	SKA3	13	21746793	Nonsense_Mutation	SNP	A	TCGA-VD-A8KH-01A-11D-A39W-08		21746793	93423085	12	854											
PRHOXNB	646625	broad.mit.edu	37	13	28562757	28562757	+	Silent	SNP	G	G	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr13:28562757G>A	ENST00000332715.5	-	1	34	c.18C>T	c.(16-18)gtC>gtT	p.V6V	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	6					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)										CCATGGAGTTGACCTTCTCAA	0.537																																						ENST00000332715.5											0										c.(16-18)gtC>gtT	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase						93	98	97					13																	28562757		2097	4227	6324	SO:0001819	synonymous_variant	646625						g.chr13:28562757G>A			CCDS45020.1	CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	ENSG00000183463	ENSG00000183463	4.1.1.n1			17785	17785	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"OHCU decarboxylase"	"OHCU decarboxylase"	615804	615804	"parahox cluster neighbor"	PRHOXNB	"parahox cluster neighbor"	PRHOXNB		16462750	16462750	Standard	Standard	NM_001105577	NM_001105577		Approved		uc010aan.1	uc010aan.1	A6NGE7	A6NGE7	OTTHUMG00000186217	OTTHUMG00000186217	ENST00000332715.5:c.18C>T	13.37:g.28562757G>A				p.V6V	NM_001105577.1	NP_001099047.1					1	34	-						Silent	SNP	ENST00000332715.5	37	c.18C>T	CCDS45020.1																																																																																									0.537	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472432.1		99.730906	-16	-16	72	72			34	100.474889	100.474889	51	0.4	0	0	0	1	0	34	51	0.4	A	28562757	G	A	28562757	2	1	46	1	0	0	0	0	0	0	0	1	12484	1277	45	3		3	PRHOXNB	13	28562757	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08	6815964	28562757	86607121	13	855											
KIAA0556	23247	broad.mit.edu	37	16	27642480	27642480	+	Frame_Shift_Del	DEL	C	C	-	rs138512782		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr16:27642480delC	ENST00000261588.4	+	5	424	c.405delC	c.(403-405)cacfs	p.H135fs		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	135						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAGGATGGCACCAGGTCTGGA	0.527																																						ENST00000261588.4											0			breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(403-405)cacfs	KIAA0556						28	24	25					16																	27642480		2195	4294	6489	SO:0001589	frameshift_variant	23247						g.chr16:27642480delC	AB011128	AB011128	CCDS32415.1	CCDS32415.1	16p12.1-p11.2	2012-11-30			2012-11-30			ENSG00000047578	ENSG00000047578	ENSG00000047578	ENSG00000047578				29068	29068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										9628581	9628581	Standard	Standard	NM_015202	NM_015202		Approved		uc002dow.3	uc002dow.3	O60303	O60303	OTTHUMG00000176780	OTTHUMG00000176780	ENST00000261588.4:c.405delC	16.37:g.27642480delC	ENSP00000261588:p.His135fs			p.H135fs	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			5	424	+			135		A7E2C2	Frame_Shift_Del	DEL	ENST00000261588.4	37	c.405delC	CCDS32415.1																																																																																									0.527	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	.	.	7	7	9	9	NM_015202		2			4	0.33						2	4	0.33	-	27642480	C	-	27642480	7	5	46	1	0	1	0	1	0	0	0	0	8183	506	18	0	423	0	KIAA0556	16	27642480	Frame_Shift_Del	DEL	C	TCGA-VD-A8KH-01A-11D-A39W-08		27642480	62712273	14	856											
RND2	8153	broad.mit.edu	37	17	41180481	41180481	+	Silent	SNP	G	G	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:41180481G>T	ENST00000587250.2	+	5	575	c.468G>T	c.(466-468)gtG>gtT	p.V156V	RND2_ENST00000544533.1_Silent_p.V157V|CTD-3199J23.4_ENST00000225973.5_lincRNA			P52198	RND2_HUMAN	Rho family GTPase 2	156					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGGGGCTGTGTCCTATGTTG	0.587																																						ENST00000544533.1											0			large_intestine(1)|skin(1)	2						c.(469-471)gtG>gtT	Rho family GTPase 2						92	87	88					17																	41180481		2203	4300	6503	SO:0001819	synonymous_variant	8153			small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity	g.chr17:41180481G>T	X95456	X95456	CCDS11452.1	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830	ENSG00000108830	ENSG00000108830				18315	18315	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601555	601555	"ras homolog gene family, member N"	ARHN	"ras homolog gene family, member N"	ARHN				Standard	Standard	XM_005257706	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	uc002icn.3	P52198	P52198	OTTHUMG00000180817	OTTHUMG00000180817	ENST00000587250.2:c.468G>T	17.37:g.41180481G>T			RND2_ENST00000587250.2_Silent_p.V156V	p.V157V	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	5	578	+		Breast(137;0.000717)	156		A8K2D4|O00690|O00734|Q5U0P6|Q99535	Silent	SNP	ENST00000587250.2	37	c.471G>T	CCDS11452.1																																																																																									0.587	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2		76.635335	-55	-55	64	64	NM_005440		26	77.370722	77.370722	41	0.38806	1	0	5.8336e-16	1	7.15942e-16	26	41	0.38806	T	41180481	G	T	41180481	2	4	46	1	0	0	0	0	0	0	0	1	13420	1364	48	5		5	RND2	17	41180481	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		41180481	40014729	15	857											
SOST	50964	broad.mit.edu	37	17	41835968	41835968	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:41835968G>A	ENST00000301691.2	-	1	188	c.142C>T	c.(142-144)Ccg>Tcg	p.P48S		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	48					cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TCCAGCTCCGGTGGAGGCTCG	0.607																																						ENST00000301691.2											0			large_intestine(2)|lung(3)|prostate(1)	6						c.(142-144)Ccg>Tcg	sclerostin						64	61	62					17																	41835968		2203	4300	6503	SO:0001583	missense	50964			negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding	g.chr17:41835968G>A	AF326736	AF326736	CCDS11468.1	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28		2014-06-28	2010-04-28			ENSG00000167941		ENSG00000167941				13771	13771	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605740	605740	"sclerosteosis"		"sclerosteosis"			11179006, 11181578	11179006, 11181578	Standard	Standard	NM_025237	NM_025237		Approved	VBCH	uc002iec.1	uc002iec.1	Q9BQB4	Q9BQB4			ENST00000301691.2:c.142C>T	17.37:g.41835968G>A	ENSP00000301691:p.Pro48Ser			p.P48S	NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	1	188	-		Breast(137;0.00725)	48		Q495N9	Missense_Mutation	SNP	ENST00000301691.2	37	c.142C>T	CCDS11468.1	.	.	.	.	.	.	.	.	.	.	G	6.657	0.489703	0.12702	.	.	ENSG00000167941	ENST00000301691	T	0.75821	-0.97	4.26	4.26	0.50523	4.26	4.26	0.50523	.	1.314110	0.04876	N	0.446883	T	0.56093	0.1962	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.48670	-0.9015	10	0.07325	T	0.83	-24.0754	7.3891	0.26899	0.0:0.1837:0.6264:0.1899	.	48	Q9BQB4	SOST_HUMAN	S	48	ENSP00000301691:P48S	ENSP00000301691:P48S	P	-	1	0	0	SOST	39191494	39191494	0.244000	0.23889	0.008000	0.14137	0.972000	0.66771	1.235000	0.32671	2.207000	0.71202	0.555000	0.69702	CCG		0.607	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1		93.957856	-27	-27	64	64	NM_025237		33	94.564953	94.564953	48	0.407407	0	0	0	1	0	33	48	0.407407	A	41835968	G	A	41835968	3	1	46	1	0	0	0	0	1	0	0	0	14938	1261	44	3	507	3	SOST	17	41835968	Missense_Mutation	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08	655487	41835968	39359242	16	858											
GPATCH8	23131	broad.mit.edu	37	17	42477396	42477396	+	Silent	SNP	T	T	C			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:42477396T>C	ENST00000591680.1	-	8	2079	c.2049A>G	c.(2047-2049)aaA>aaG	p.K683K	GPATCH8_ENST00000434000.1_Silent_p.K605K	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	683	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTTTGCTGGATTTTTTGTGCT	0.463																																						ENST00000434000.1											0			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1813-1815)aaA>aaG	G patch domain containing 8						216	217	217					17																	42477396		2203	4300	6503	SO:0001819	synonymous_variant	23131				intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477396T>C	AB011125	AB011125	CCDS32666.1	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566	ENSG00000186566	ENSG00000186566		"G patch domain containing"	"G patch domain containing"	29066	29066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614396	614396	"KIAA0553"	KIAA0553, GPATC8	"KIAA0553"	KIAA0553, GPATC8		9628581	9628581	Standard	Standard	NM_001002909	NM_001002909		Approved		uc002igw.2	uc002igw.2	Q9UKJ3	Q9UKJ3	OTTHUMG00000181818	OTTHUMG00000181818	ENST00000591680.1:c.2049A>G	17.37:g.42477396T>C			GPATCH8_ENST00000591680.1_Silent_p.K683K	p.K605K			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2097	-		Prostate(33;0.0181)	683		B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.1815A>G	CCDS32666.1																																																																																									0.463	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1		237.151242	-57	-57	168	168	NM_001002909		73	237.832328	237.832328	96	0.431953	0	0	0	1	0	73	96	0.431953	C	42477396	T	C	42477396	2	2	46	1	0	0	0	0	0	0	0	1	6594	1490	52	4		4	GPATCH8	17	42477396	Silent	SNP	T	TCGA-VD-A8KH-01A-11D-A39W-08	641428	42477396	38717814	17	859											
NXPH3	11248	broad.mit.edu	37	17	47656053	47656053	+	Silent	SNP	G	G	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:47656053G>A	ENST00000328741.5	+	2	512	c.150G>A	c.(148-150)cgG>cgA	p.R50R	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Silent_p.R50R	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	50	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CTCGGAAGCGGGGCCACATCT	0.677																																						ENST00000328741.5											0			endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12						c.(148-150)cgG>cgA	neurexophilin 3						34	38	37					17																	47656053		2203	4298	6501	SO:0001819	synonymous_variant	11248			neuropeptide signaling pathway	extracellular region		g.chr17:47656053G>A	AF043468	AF043468	CCDS11550.1	CCDS11550.1	17q	2008-07-03			2008-07-03				ENSG00000182575		ENSG00000182575				8077	8077	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604636	604636						9570794	9570794	Standard	Standard	NM_007225	NM_007225		Approved	NPH3	uc002ipa.3	uc002ipa.3	O95157	O95157			ENST00000328741.5:c.150G>A	17.37:g.47656053G>A			NXPH3_ENST00000513748.1_Silent_p.R50R	p.R50R	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN			2	512	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		50	II.	Q8NDC3|Q8TBF6|Q9ULR1	Silent	SNP	ENST00000328741.5	37	c.150G>A	CCDS11550.1																																																																																									0.677	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1		133.587680	-7	-7	55	55			43	134.032821	134.032821	31	0.581081	0	0	0	1	0	43	31	0.581081	A	47656053	G	A	47656053	2	1	46	1	0	0	0	0	0	0	0	1	10792	1219	43	3		3	NXPH3	17	47656053	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08	5178657	47656053	33539157	18	860											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		81.651164	-12	-12	69	69	NM_002067		26	81.66855	81.66855	24	0.52	0	0	0	1	0	26	24	0.52	T	3118942	A	T	3118942	3	4	46	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8KH-01A-11D-A39W-08		3118942	56010041	19	861											
RBM12	10137	broad.mit.edu	37	20	34241273	34241273	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr20:34241273G>T	ENST00000374114.3	-	3	2235	c.1972C>A	c.(1972-1974)Ccc>Acc	p.P658T	CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P658T|RBM12_ENST00000359646.1_Missense_Mutation_p.P658T	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	658	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCCACACCGGGCAGTCCCGCA	0.582																																						ENST00000374114.3											0			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1972-1974)Ccc>Acc	RNA binding motif protein 12						37	39	38					20																	34241273		2203	4300	6503	SO:0001583	missense	10137				nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241273G>T	AJ289772	AJ289772	CCDS13261.1	CCDS13261.1	20q11.21	2013-02-12			2013-02-12			ENSG00000244462	ENSG00000244462	ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	"RNA binding motif (RRM) containing"	9898	9898	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607179	607179						11435693	11435693	Standard	Standard	NM_006047	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	uc021wcq.1	Q9NTZ6	Q9NTZ6	OTTHUMG00000032350	OTTHUMG00000032350	ENST00000374114.3:c.1972C>A	20.37:g.34241273G>T	ENSP00000363228:p.Pro658Thr		CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P658T|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P658T|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron	p.P658T	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2235	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		658	Gly-rich.|Pro-rich.	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1972C>A	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156482	0.38119	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.19938	2.11;2.11;2.11	4.21	3.25	0.37280	4.21	3.25	0.37280	.	0.000000	0.37669	N	0.001982	T	0.13756	0.0333	N	0.19112	0.55	0.80722	D	1	B	0.14805	0.011	B	0.10450	0.005	T	0.06954	-1.0798	10	0.30854	T	0.27	-2.3869	12.9934	0.58634	0.0:0.0:0.8366:0.1634	.	658	Q9NTZ6	RBM12_HUMAN	T	658;658;658;457	ENSP00000363228:P658T;ENSP00000352668:P658T;ENSP00000363217:P658T	ENSP00000339879:P457T	P	-	1	0	0	RBM12	33704687	33704687	1.000000	0.71417	0.925000	0.36789	0.026000	0.11368	4.663000	0.61532	1.333000	0.45449	-0.241000	0.12123	CCC		0.582	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1		59.514582	-12	-12	64	64	NM_006047		21	60.679677	60.679677	39	0.35	1	0	4.35082e-09	1	4.89467e-09	21	39	0.35	T	34241273	G	T	34241273	3	4	46	1	0	0	0	0	1	0	0	0	13113	1203	42	5	830	5	RBM12	20	34241273	Missense_Mutation	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		34241273	28784247	20	862											
MCM5	4174	broad.mit.edu	37	22	35811891	35811891	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr22:35811891C>T	ENST00000216122.4	+	10	1427	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.R382W	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	425	MCM.				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)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCCTTCGTCCCGGAATTTCAT	0.592																																						ENST00000216122.4											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1273-1275)Cgg>Tgg	minichromosome maintenance complex component 5						191	196	195					22																	35811891		2203	4300	6503	SO:0001583	missense	4174			cell cycle checkpoint|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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35811891C>T			CCDS13915.1	CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297	ENSG00000100297	ENSG00000100297				6948	6948	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602696	602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	8751386, 10591208	Standard	Standard	NM_006739	NM_006739		Approved		uc003anu.4	uc003anu.4	P33992	P33992	OTTHUMG00000150961	OTTHUMG00000150961	ENST00000216122.4:c.1273C>T	22.37:g.35811891C>T	ENSP00000216122:p.Arg425Trp		MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.R382W	p.R425W	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			10	1427	+			425	MCM.	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1273C>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837041	0.91117	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.14266	2.52;2.52	5.66	4.61	0.57282	5.66	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	H	0.95365	3.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.62374	-0.6868	10	0.87932	D	0	-25.6682	11.9707	0.53062	0.1441:0.7322:0.1237:0.0	.	425;425;382;425	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	W	425;382;334	ENSP00000216122:R425W;ENSP00000371441:R382W	ENSP00000216122:R425W	R	+	1	2	2	MCM5	34141891	34141891	0.803000	0.28956	0.998000	0.56505	0.948000	0.59901	1.567000	0.36407	1.342000	0.45619	0.655000	0.94253	CGG		0.592	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		321.444072	-13	-13	199	199			105	322.837172	322.837172	145	0.42	0	0	0	1	0	105	145	0.42	T	35811891	C	T	35811891	3	4	46	1	0	0	0	0	1	0	0	0	9390	643	23	1	1307	1	MCM5	22	35811891	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		35811891	15492675	21	863											
SAPS2	9701	broad.mit.edu	37	22	50874821	50874822	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr22:50874821_50874822delCT	ENST00000216061.5	+	15	1912_1913	c.1542_1543delCT	c.(1540-1545)cgctggfs	p.W515fs	PPP6R2_ENST00000359139.3_Frame_Shift_Del_p.W515fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.W516fs|PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.W515fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	515						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GCCGTGGCCGCTGGGAGAGCTT	0.703																																						ENST00000359139.3											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1540-1545)cgctggfs	protein phosphatase 6, regulatory subunit 2																																			SO:0001589	frameshift_variant	9701				cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50874821_50874822delCT	AB014585	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	19253	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610877	610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	16769727	Standard	Standard	NM_014678	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	uc003blc.3	O75170	O75170	OTTHUMG00000150199	OTTHUMG00000150199	ENST00000216061.5:c.1542_1543delCT	22.37:g.50874821_50874822delCT	ENSP00000216061:p.Trp515fs		PPP6R2_ENST00000216061.5_Frame_Shift_Del_p.W515fs|PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.W515fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.W516fs	p.W515fs	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			14	1936_1937	+			515		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Del	DEL	ENST00000216061.5	37	c.1542_1543delCT																																																																																										0.703	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	.	.	-8	-8	4	4	NM_014678		2			4	0.33						2	4	0.33	-	50874822	CT	-	50874821	7	5	46	1	0	1	0	1	0	0	0	0	13837	784	28	0	1588	0	SAPS2	22	50874821	Frame_Shift_Del	DEL	CT	TCGA-VD-A8KH-01A-11D-A39W-08	15062930	50874821	429745	22	864											
MAPK8IP2	23542	broad.mit.edu	37	22	51040256	51040256	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr22:51040256A>C	ENST00000329492.3	+	2	221	c.104A>C	c.(103-105)gAa>gCa	p.E35A	MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E35A|MAPK8IP2_ENST00000399908.2_5'Flank|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E35A|MAPK8IP2_ENST00000008876.5_5'Flank|CHKB_ENST00000463053.1_5'Flank	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	35	Asp/Glu-rich (acidic).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTTGACGACGAAGATCTGTCT	0.577																																						ENST00000329492.3											0			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(103-105)gAa>gCa	mitogen-activated protein kinase 8 interacting protein 2						96	100	99					22																	51040256		1976	4147	6123	SO:0001583	missense	23542			behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51040256A>C	AL021708	AL021708	CCDS74886.1	CCDS74886.1	22q13.33	2010-04-06			2010-04-06			ENSG00000008735	ENSG00000008735	ENSG00000008735	ENSG00000008735				6883	6883	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	"islet-brain 2", "JNK-interacting protein 2"	607755	607755	"PRKM8 interacting protein-like"	PRKM8IPL	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	10490659	Standard	Standard	NM_012324	NM_012324		Approved	IB2, JIP2	uc003bmy.3	uc003bmy.3	Q13387	Q13387	OTTHUMG00000150181	OTTHUMG00000150181	ENST00000329492.3:c.104A>C	22.37:g.51040256A>C	ENSP00000330572:p.Glu35Ala		MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E35A|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E35A	p.E35A	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	221	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	35	Asp/Glu-rich (acidic).	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000329492.3	37	c.104A>C		.	.	.	.	.	.	.	.	.	.	A	25.9	4.683478	0.88639	.	.	ENSG00000008735	ENST00000329492;ENST00000442429;ENST00000341339	T;T;T	0.69561	0.07;-0.41;0.55	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.062043	0.64402	D	0.000007	T	0.78830	0.4345	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81169	-0.1055	10	0.87932	D	0	.	12.2634	0.54663	1.0:0.0:0.0:0.0	.	35	Q13387	JIP2_HUMAN	A	35	ENSP00000330572:E35A;ENSP00000404914:E35A;ENSP00000340015:E35A	ENSP00000330572:E35A	E	+	2	0	0	MAPK8IP2	49387122	49387122	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	9.101000	0.94219	1.776000	0.52262	0.414000	0.27820	GAA		0.577	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			51.226052	-29	-29	64	64	NM_012324		18	54.134578	54.134578	47	0.276923	0	0	0	1	0	18	47	0.276923	C	51040256	A	C	51040256	3	2	46	1	0	0	0	0	1	0	0	0	9285	246	9	5	110	5	MAPK8IP2	22	51040256	Missense_Mutation	SNP	A	TCGA-VD-A8KH-01A-11D-A39W-08	165435	51040256	264310	23	865											
KAL1	3730	broad.mit.edu	37	X	8699907	8699907	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chrX:8699907C>A	ENST00000262648.3	-	1	320	c.171G>T	c.(169-171)caG>caT	p.Q57H		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	57					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TGCGAGTGATCTGCAGGCTCA	0.756																																						ENST00000262648.3											0			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(169-171)caG>caT	Kallmann syndrome 1 sequence						9	10	10					X																	8699907		2091	4053	6144	SO:0001583	missense	3730			axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8699907C>A			CCDS14130.1	CCDS14130.1	Xp22.32	2013-02-11			2013-02-11			ENSG00000011201	ENSG00000011201	ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	6211	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	"anosmin-1", "WAP four-disulfide core domain 19"	300836	300836		KAL, ADMLX		KAL, ADMLX		11463336	11463336	Standard	Standard	NM_000216	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	uc004csf.3	P23352	P23352	OTTHUMG00000021107	OTTHUMG00000021107	ENST00000262648.3:c.171G>T	X.37:g.8699907C>A	ENSP00000262648:p.Gln57His			p.Q57H	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			1	320	-			57		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.171G>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	c	1.698	-0.502232	0.04261	.	.	ENSG00000011201	ENST00000262648	T	0.73152	-0.72	3.54	1.68	0.24146	3.54	1.68	0.24146	.	0.262685	0.30329	U	0.009869	T	0.38026	0.1025	N	0.04162	-0.26	0.23180	N	0.998162	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	10	0.05620	T	0.96	.	6.4111	0.21692	0.0:0.5508:0.3447:0.1045	.	57	P23352	KALM_HUMAN	H	57	ENSP00000262648:Q57H	ENSP00000262648:Q57H	Q	-	3	2	2	KAL1	8659907	8659907	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	2.116000	0.41930	-0.029000	0.13827	-0.322000	0.08575	CAG		0.756	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1		56.091680	-17	-17	15	15	NM_000216		17	59.028693	59.028693	2	0.894737	1	0	3.62473e-10	1	4.25512e-10	17	2	0.894737	A	8699907	C	A	8699907	3	1	46	1	0	0	0	0	1	0	0	0	7974	912	32	5	1927	5	KAL1	23	8699907	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		8699907	146570653	24	866											
TEX13A	56157	broad.mit.edu	37	X	104463874	104463874	+	Silent	SNP	G	G	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chrX:104463874G>A	ENST00000413579.1	-	5	1113	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	TEX13A_ENST00000372578.3_Missense_Mutation_p.P335L|TEX13A_ENST00000372575.1_Missense_Mutation_p.P335L|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	334							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCCAGTCGGAAGGCAGCT	0.537																																						ENST00000372578.3											0			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(1003-1005)cCg>cTg	testis expressed 13A						104	99	100					X																	104463874		2150	4248	6398	SO:0001819	synonymous_variant	56157				intracellular	zinc ion binding	g.chrX:104463874G>A	AF285597	AF285597	CCDS76005.1	CCDS76005.1	Xq28	2012-04-20	2007-03-13		2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629	ENSG00000133149	ENSG00000268629				11735	11735	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300312	300312	"testis expressed sequence 13A"		"testis expressed sequence 13A"			11279525	11279525	Standard	Standard	NM_031274	NM_031274		Approved		uc004ema.3	uc004ema.3	Q9BXU3	Q9BXU3	OTTHUMG00000022133	OTTHUMG00000022133	ENST00000413579.1:c.1002C>T	X.37:g.104463874G>A			TEX13A_ENST00000372575.1_Missense_Mutation_p.P335L|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Silent_p.S334S|IL1RAPL2_ENST00000372582.1_Intron	p.P335L	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	1115	-			0		B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.1004C>T		.	.	.	.	.	.	.	.	.	.	G	9.010	0.982250	0.18889	.	.	ENSG00000133149	ENST00000372578;ENST00000372575	.	.	.	3.01	1.16	0.20824	3.01	1.16	0.20824	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36744	-0.9735	5	0.87932	D	0	.	3.0504	0.06167	0.1549:0.0:0.5797:0.2653	.	.	.	.	L	335	.	ENSP00000361656:P335L	P	-	2	0	0	TEX13A	104350530	104350530	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	1.052000	0.30429	0.174000	0.19809	-0.776000	0.03382	CCG		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			0.698932	-47	-47	26	26	NM_031274		3	6.527967	6.527967	31	0.088235	0	0	0	1	0	3	31	0.088235	A	104463874	G	A	104463874	2	1	46	1	0	0	0	0	0	0	0	1	15773	1116	39	1		1	TEX13A	23	104463874	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08	95763967	104463874	50806686	25	867											
C1orf86	199990	broad.mit.edu	37	1	2125233	2125233	+	Silent	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:2125233G>A	ENST00000378546.4	-	3	339	c.315C>T	c.(313-315)caC>caT	p.H105H	C1orf86_ENST00000378545.3_Silent_p.H208H|C1orf86_ENST00000400919.3_De_novo_Start_OutOfFrame|C1orf86_ENST00000487186.1_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	105					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTCCTGCCCCGTGAAGCAGCC	0.697																																						ENST00000400919.3											0			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4							chromosome 1 open reading frame 86						19	26	24					1																	2125233		2194	4292	6486	SO:0001819	synonymous_variant	199990						g.chr1:2125233G>A	AK126870	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			2013-05-22			ENSG00000162585	ENSG00000162585	ENSG00000162585	ENSG00000162585				26428	26428	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615183	615183						14702039	14702039	Standard	Standard	NM_182533	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	uc031pkt.1	Q6NZ36	Q6NZ36	OTTHUMG00000001404	OTTHUMG00000001404	ENST00000378546.4:c.315C>T	1.37:g.2125233G>A			C1orf86_ENST00000378545.3_Silent_p.H208H|C1orf86_ENST00000378546.4_Silent_p.H105H|C1orf86_ENST00000487186.1_5'UTR		NM_001282671.1	NP_001269600.1	Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	0	306	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)			A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Translation_Start_Site	SNP	ENST00000378546.4	37		CCDS38.2	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842324	0.16963	.	.	ENSG00000162585	ENST00000378543;ENST00000420515	T	0.46451	0.87	3.47	-6.65	0.01795	3.47	-6.65	0.01795	.	.	.	.	.	T	0.25158	0.0611	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31251	-0.9950	8	0.87932	D	0	-0.0172	4.798	0.13282	0.5643:0.0:0.1606:0.2751	.	101	Q6ZRT9	.	M	60;105	ENSP00000367804:T60M	ENSP00000367804:T60M	T	-	2	0	0	C1orf86	2115093	2115093	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.202000	0.00275	-1.480000	0.01865	-0.521000	0.04368	ACG		0.697	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1		35.962752	-21	-21	29	29	NM_182533		13	37.181361	37.181361	28	0.317073	0	0	0	1	0	13	28	0.317073	A	2125233	G	A	2125233	2	1	47	1	0	0	0	0	0	0	0	1	2063	1145	40	1		1	C1orf86	1	2125233	Silent	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08		2125233	247125388	1	868											
C1orf94	84970	broad.mit.edu	37	1	34663232	34663232	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:34663232T>C	ENST00000488417.1	+	2	847	c.727T>C	c.(727-729)Ttc>Ctc	p.F243L	C1orf94_ENST00000373374.3_Missense_Mutation_p.F53L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	243										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCTGTCCCAGTTCCCACTGAA	0.547																																						ENST00000488417.1											0			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(727-729)Ttc>Ctc	chromosome 1 open reading frame 94						84	75	78					1																	34663232		2203	4300	6503	SO:0001583	missense	84970					protein binding	g.chr1:34663232T>C	AK123355	AK123355	CCDS381.1, CCDS44108.1	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			2012-06-26			ENSG00000142698	ENSG00000142698	ENSG00000142698	ENSG00000142698				28250	28250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_001134734	NM_001134734		Approved	MGC15882	uc001bxt.3	uc001bxt.3	Q6P1W5	Q6P1W5	OTTHUMG00000004012	OTTHUMG00000004012	ENST00000488417.1:c.727T>C	1.37:g.34663232T>C	ENSP00000435634:p.Phe243Leu		C1orf94_ENST00000373374.3_Missense_Mutation_p.F53L	p.F243L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			2	847	+		Myeloproliferative disorder(586;0.0393)	53		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.727T>C	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.961276	0.34565	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.23348	1.91;1.91	4.98	3.84	0.44239	4.98	3.84	0.44239	.	0.100155	0.44483	D	0.000451	T	0.16471	0.0396	N	0.24115	0.695	0.34708	D	0.727476	B	0.11235	0.004	B	0.14578	0.011	T	0.09729	-1.0661	10	0.49607	T	0.09	-19.8309	8.0269	0.30442	0.181:0.0:0.0:0.819	.	243	Q6P1W5	CA094_HUMAN	L	53;243	ENSP00000362472:F53L;ENSP00000435634:F243L	ENSP00000362472:F53L	F	+	1	0	0	C1orf94	34435819	34435819	1.000000	0.71417	0.983000	0.44433	0.752000	0.42762	3.176000	0.50863	0.722000	0.32252	0.460000	0.39030	TTC		0.547	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2		77.830932	-6	-6	46	46	NM_032884		23	78.027222	78.027222	17	0.575	0	0	0	1	0	23	17	0.575	C	34663232	T	C	34663232	3	2	47	1	0	0	0	0	1	0	0	0	2071	1725	60	4	733	4	C1orf94	1	34663232	Missense_Mutation	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08	32537999	34663232	214587389	2	869											
COL9A2	1298	broad.mit.edu	37	1	40771434	40771434	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:40771434G>A	ENST00000372748.3	-	21	1156	c.1060C>T	c.(1060-1062)Ccg>Tcg	p.P354S	COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	354	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	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;2.08e-17)			TGCGGGCCCGGCTCACCCTGC	0.602																																						ENST00000372748.3											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(1060-1062)Ccg>Tcg	collagen, type IX, alpha 2						40	42	41					1																	40771434		2203	4300	6503	SO:0001583	missense	1298			axon guidance|skeletal system development	collagen type IX		g.chr1:40771434G>A	M95610	M95610	CCDS450.1	CCDS450.1	1p33-p32	2013-01-16			2013-01-16			ENSG00000049089	ENSG00000049089	ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	2218	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120260	120260		EDM2		EDM2		8454052, 8528240, 1429648	8454052, 8528240, 1429648	Standard	Standard	NM_001852	NM_001852		Approved	MED	uc001cfh.1	uc001cfh.1	Q14055	Q14055	OTTHUMG00000005761	OTTHUMG00000005761	ENST00000372748.3:c.1060C>T	1.37:g.40771434G>A	ENSP00000361834:p.Pro354Ser			p.P354S	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		21	1156	-	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)	354	Triple-helical region 3 (COL3).	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.1060C>T	CCDS450.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866352	0.32977	.	.	ENSG00000049089	ENST00000372748	D	0.92965	-3.14	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.106109	0.64402	D	0.000003	D	0.94241	0.8151	L	0.60067	1.865	0.53688	D	0.999973	D	0.61080	0.989	P	0.60117	0.869	D	0.92703	0.6176	10	0.33141	T	0.24	.	17.5892	0.87991	0.0:0.0:1.0:0.0	.	354	Q14055	CO9A2_HUMAN	S	354	ENSP00000361834:P354S	ENSP00000361834:P354S	P	-	1	0	0	COL9A2	40544021	40544021	0.996000	0.38824	0.998000	0.56505	0.283000	0.27025	2.259000	0.43259	2.767000	0.95098	0.655000	0.94253	CCG		0.602	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3		0.198722	-35	-35	36	36	NM_001852		3	6.549482	6.549482	33	0.083333	0	0	0	1	0	3	33	0.083333	A	40771434	G	A	40771434	3	1	47	1	0	0	0	0	1	0	0	0	3708	1203	42	2	1057	2	COL9A2	1	40771434	Missense_Mutation	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08	6108202	40771434	208479187	3	870											
PTBP2	58155	broad.mit.edu	37	1	97278911	97278911	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:97278911C>G	ENST00000426398.2	+	14	1589	c.1546C>G	c.(1546-1548)Ctt>Gtt	p.L516V	PTBP2_ENST00000394184.3_Missense_Mutation_p.L533V|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.L521V|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.L522V|PTBP2_ENST00000609116.1_Missense_Mutation_p.L517V	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	516	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TAATTATAACCTTGGAGAAAA	0.363																																						ENST00000609116.1											0			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(1549-1551)Ctt>Gtt	polypyrimidine tract binding protein 2						67	75	72					1																	97278911		2203	4300	6503	SO:0001583	missense	58155					nucleotide binding	g.chr1:97278911C>G	AB051232	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			2013-07-16			ENSG00000117569	ENSG00000117569	ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	"RNA binding motif (RRM) containing"	17662	17662	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608449	608449						11003644	11003644	Standard	Standard	XM_005271084	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	uc001drq.3	Q9UKA9	Q9UKA9	OTTHUMG00000010685	OTTHUMG00000010685	ENST00000426398.2:c.1546C>G	1.37:g.97278911C>G	ENSP00000412788:p.Leu516Val		PTBP2_ENST00000426398.2_Missense_Mutation_p.L516V|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.L521V|PTBP2_ENST00000394184.3_Missense_Mutation_p.L533V|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.L522V	p.L517V			Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	14	1631	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		RRM 4.	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.1549C>G	CCDS754.1	.	.	.	.	.	.	.	.	.	.	C	8.228	0.804021	0.16467	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.5	5.5	0.81552	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.151416	0.64402	D	0.000020	T	0.13243	0.0321	M	0.83118	2.625	0.80722	D	1	B;B;B;B;B;B;B	0.16166	0.007;0.001;0.0;0.001;0.016;0.0;0.006	B;B;B;B;B;B;B	0.32211	0.098;0.008;0.0;0.002;0.142;0.037;0.038	T	0.01228	-1.1412	10	0.87932	D	0	-5.3849	14.5806	0.68288	0.1461:0.8539:0.0:0.0	.	525;533;189;521;516;517;522	B4DSU5;B4DSS8;B4DSI2;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;.;PTBP2_HUMAN;.;.	V	517;189;521;522;516;533	ENSP00000236228:L517V;ENSP00000359217:L521V;ENSP00000359216:L522V;ENSP00000412788:L516V;ENSP00000377738:L533V	ENSP00000236228:L517V	L	+	1	0	0	PTBP2	97051499	97051499	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.209000	0.51122	2.734000	0.93682	0.650000	0.86243	CTT		0.363	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1		98.253618	-30	-30	60	60			33	99.184611	99.184611	52	0.388235	0	0	0	1	0	33	52	0.388235	G	97278911	C	G	97278911	3	3	47	1	0	0	0	0	1	0	0	0	12726	681	24	5	1600	5	PTBP2	1	97278911	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	56507477	97278911	151971710	4	871											
IL18R1	8809	broad.mit.edu	37	2	102998134	102998134	+	Missense_Mutation	SNP	T	T	C	rs56076776		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr2:102998134T>C	ENST00000409599.1	+	7	1036	c.680T>C	c.(679-681)gTg>gCg	p.V227A	IL18R1_ENST00000233957.1_Missense_Mutation_p.V227A			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	227	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CATGTTGCAGTGGAATTAGGT	0.343																																						ENST00000409599.1											0			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(679-681)gTg>gCg	interleukin 18 receptor 1						111	103	106					2																	102998134		2203	4300	6503	SO:0001583	missense	8809			innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102998134T>C	U43672	U43672	CCDS2060.1	CCDS2060.1	2q12	2013-01-29			2013-01-29			ENSG00000115604	ENSG00000115604	ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	5988	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604494	604494						8626725, 10191101	8626725, 10191101	Standard	Standard	NM_003855	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	uc010fiy.3	Q13478	Q13478	OTTHUMG00000130780	OTTHUMG00000130780	ENST00000409599.1:c.680T>C	2.37:g.102998134T>C	ENSP00000387211:p.Val227Ala		IL18R1_ENST00000233957.1_Missense_Mutation_p.V227A	p.V227A			Q13478	IL18R_HUMAN			7	1036	+			227	Ig-like C2-type 3.	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.680T>C	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.928888	0.34002	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.16457	2.34;2.34;2.34	5.03	3.85	0.44370	5.03	3.85	0.44370	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.254304	0.27996	N	0.017020	T	0.18087	0.0434	M	0.66506	2.035	0.80722	D	1	B;B	0.33171	0.4;0.4	B;B	0.34873	0.191;0.191	T	0.02505	-1.1149	10	0.30854	T	0.27	.	7.8067	0.29206	0.0:0.1002:0.0:0.8998	.	227;227	B7ZKV7;Q13478	.;IL18R_HUMAN	A	227	ENSP00000386663:V227A;ENSP00000387211:V227A;ENSP00000233957:V227A	ENSP00000233957:V227A	V	+	2	0	0	IL18R1	102364566	102364566	1.000000	0.71417	0.995000	0.50966	0.350000	0.29205	2.040000	0.41203	2.017000	0.59298	0.528000	0.53228	GTG		0.343	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2		37.369144	-12	-12	30	30	NM_003855		13	37.485592	37.485592	17	0.433333	0	0	0	1	0	13	17	0.433333	C	102998134	T	C	102998134	3	2	47	1	0	0	0	0	1	0	0	0	7647	1696	59	4	698	4	IL18R1	2	102998134	Missense_Mutation	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08		102998134	140201239	5	872											
BAP1	8314	broad.mit.edu	37	3	52437426	52437448	+	Splice_Site	DEL	GCCCACCTGTCAGCGCCAGGGGA	GCCCACCTGTCAGCGCCAGGGGA	-	rs374920141		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr3:52437426_52437448delGCCCACCTGTCAGCGCCAGGGGA	ENST00000460680.1	-	13	2184_2201	c.1713_1730delTCCCCTGGCGCTGACAGGTGGGC	c.(1711-1731)agtcccctggcgctgacaggt>agt	p.PLALTG572fs	BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P572fs*69(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCC	0.596			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1711-1731)agtcccctggcgctgacaggt>agt	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001630	splice_region_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52437426_52437448delGCCCACCTGTCAGCGCCAGGGGA	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1729+1TCCCCTGGCGCTGACAGGTGGGC>-	3:g.52437426_52437448delGCCCACCTGTCAGCGCCAGGGGA			BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	p.PLALTG572fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	2184_2201	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	DEL	ENST00000460680.1		c.1713_1730delTCCCCTGGCGCTGACAGGTGGGC	CCDS2853.1																																																																																									0.596	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	1.469000e+01	2.597000e+01	0	0	40	40		Frame_Shift_Del	6			1	0.857						6	1	0.857	-	52437448	GCCCACCTGTCAGCGCCAGGGGA	-	52437426	8	5	47	1	0	1	0	1	0	0	1	0	1311	1218	42	0		0	BAP1	3	52437426	Splice_Site	DEL	GCCCACCTGTCAGCGCCAGGGGA	TCGA-VD-A8KI-01A-11D-A39W-08		52437426	145585004	6	873	12	2									
BAP1	8314	broad.mit.edu	37	3	52437427	52437448	+	Splice_Site	DEL	CCCACCTGTCAGCGCCAGGGGA	CCCACCTGTCAGCGCCAGGGGA	-	rs374920141		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr3:52437427_52437448delCCCACCTGTCAGCGCCAGGGGA	ENST00000460680.1	-	13	2184_2201	c.1713_1730delTCCCCTGGCGCTGACAGGTGGG	c.(1711-1731)agtcccctggcgctgacaggt>agt	p.PLALTG572fs	BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P572fs*69(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCC	0.595			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1711-1731)agtcccctggcgctgacaggt>agt	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001630	splice_region_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437427_52437448delCCCACCTGTCAGCGCCAGGGGA	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1729+1TCCCCTGGCGCTGACAGGTGGG>-	3.37:g.52437427_52437448delCCCACCTGTCAGCGCCAGGGGA			BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	p.PLALTG572fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	2184_2201	-			572		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	DEL	ENST00000460680.1	37	c.1713_1730delTCCCCTGGCGCTGACAGGTGGG	CCDS2853.1																																																																																									0.595	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	-3	-3	39	39		Frame_Shift_Del	4			3	0.57						4	3	0.57	-	52437448	CCCACCTGTCAGCGCCAGGGGA	-	52437427	8	5	47	1	0	1	0	1	0	0	1	0	1311	754	26	0		0	BAP1	3	52437427	Splice_Site	DEL	CCCACCTGTCAGCGCCAGGGGA	TCGA-VD-A8KI-01A-11D-A39W-08	1	52437427	145585003	7	874	12	2									
C4orf17	84103	broad.mit.edu	37	4	100463085	100463085	+	Missense_Mutation	SNP	C	C	T	rs201530498		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr4:100463085C>T	ENST00000326581.4	+	9	1261	c.899C>T	c.(898-900)cCa>cTa	p.P300L		NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	300										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CACAAGCCTCCACTACTTATA	0.363																																						ENST00000326581.4											0			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(898-900)cCa>cTa	chromosome 4 open reading frame 17						32	35	34					4																	100463085		2202	4300	6502	SO:0001583	missense	84103						g.chr4:100463085C>T	AL136838	AL136838	CCDS3649.1	CCDS3649.1	4q23	2008-02-05			2008-02-05			ENSG00000138813	ENSG00000138813	ENSG00000138813	ENSG00000138813				25274	25274	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11230166	11230166	Standard	Standard	NM_032149	NM_032149		Approved	DKFZP434G072	uc003huw.3	uc003huw.3	Q53FE4	Q53FE4	OTTHUMG00000131027	OTTHUMG00000131027	ENST00000326581.4:c.899C>T	4.37:g.100463085C>T	ENSP00000322582:p.Pro300Leu			p.P300L	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	9	1261	+			300		Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.899C>T	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	C	8.105	0.777448	0.16120	.	.	ENSG00000138813	ENST00000326581	T	0.21031	2.03	5.42	3.57	0.40892	5.42	3.57	0.40892	.	0.254540	0.28544	N	0.014977	T	0.34279	0.0892	M	0.62723	1.935	0.09310	N	0.999999	D	0.63046	0.992	P	0.60068	0.868	T	0.06463	-1.0825	10	0.54805	T	0.06	-8.5037	7.4637	0.27310	0.1979:0.6184:0.1837:0.0	.	300	Q53FE4	CD017_HUMAN	L	300	ENSP00000322582:P300L	ENSP00000322582:P300L	P	+	2	0	0	C4orf17	100682108	100682108	0.002000	0.14202	0.025000	0.17156	0.009000	0.06853	0.571000	0.23669	1.451000	0.47736	0.650000	0.86243	CCA		0.363	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2		45.948313	-5	-5	38	38	NM_032149		14	45.977269	45.977269	16	0.466667	0	0	0	1	0	14	16	0.466667	T	100463085	C	T	100463085	3	4	47	1	0	0	0	0	1	0	0	0	2252	594	21	3	929	3	C4orf17	4	100463085	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		100463085	90691191	8	875											
KIAA1109	84162	broad.mit.edu	37	4	123275053	123275053	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr4:123275053C>G	ENST00000264501.4	+	82	14559	c.14186C>G	c.(14185-14187)gCt>gGt	p.A4729G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4729G			Q2LD37	K1109_HUMAN	KIAA1109	4729					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCATGTGGTGCTTTGGAAAGT	0.383																																						ENST00000264501.4											0			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(14185-14187)gCt>gGt	KIAA1109						98	91	93					4																	123275053		1856	4100	5956	SO:0001583	missense	84162			regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123275053C>G	AL137384	AL137384	CCDS43267.1	CCDS43267.1	4q28.1	2012-07-09			2012-07-09			ENSG00000138688	ENSG00000138688	ENSG00000138688	ENSG00000138688				26953	26953	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fragile site-associated"	"fragile site-associated"	611565	611565						16386706	16386706	Standard	Standard	NM_015312	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	uc003ieh.3	Q2LD37	Q2LD37	OTTHUMG00000150116	OTTHUMG00000150116	ENST00000264501.4:c.14186C>G	4.37:g.123275053C>G	ENSP00000264501:p.Ala4729Gly		KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4729G	p.A4729G			Q2LD37	K1109_HUMAN			82	14559	+			4729		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14186C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001660|4.001660	0.74932|0.74932	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	T;T;T|.	0.34072|.	2.36;2.36;1.38|.	6.04|6.04	6.04|6.04	0.98038|0.98038	6.04|6.04	6.04|6.04	0.98038|0.98038	Fragile site-associated protein, C-terminal (1);|.	0.225686|.	0.44688|.	D|.	0.000431|.	T|T	0.74137|0.74137	0.3677|0.3677	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.996;0.999|.	D;D|.	0.83275|.	0.99;0.996|.	T|T	0.68762|0.68762	-0.5323|-0.5323	10|5	0.33141|.	T|.	0.24|.	.|.	20.5891|20.5891	0.99427|0.99427	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4728;4729|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	G|V	4729;4729;1398;330|1105	ENSP00000264501:A4729G;ENSP00000373390:A4729G;ENSP00000410874:A1398G|.	ENSP00000264501:A4729G|.	A|L	+|+	2|1	0|0	0|0	KIAA1109|KIAA1109	123494503|123494503	123494503|123494503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.876000|2.876000	0.98609|0.98609	0.650000|0.650000	0.86243|0.86243	GCT|CTT		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		54.939144	-15	-15	44	44	NM_020797		18	55.415304	55.415304	28	0.391304	0	0	0	1	0	18	28	0.391304	G	123275053	C	G	123275053	3	3	47	1	0	0	0	0	1	0	0	0	8208	797	28	5	14504	5	KIAA1109	4	123275053	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	22811968	123275053	67879223	9	876											
DMXL1	1657	broad.mit.edu	37	5	118469695	118469695	+	Silent	SNP	C	C	T	rs141146454	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr5:118469695C>T	ENST00000311085.8	+	12	2156	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D	DMXL1_ENST00000539542.1_Silent_p.D692D	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	692										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCACTGTTGACGTGGCATTTC	0.428													C|||	4	0.000798722	0	0.0014	5008	,	,		20704	0		0.002	False		,,,				2504	0.001					ENST00000311085.8											0			breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(2074-2076)gaC>gaT	Dmx-like 1	C		1,4403	2.1+/-5.4	0,1,2201	122	119	120		2076	-2.6	0	5	dbSNP_134	120	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DMXL1	NM_005509.4		0,5,6497	TT,TC,CC		0.0465,0.0227,0.0384		692/3028	118469695	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	1657						g.chr5:118469695C>T	AJ005821	AJ005821	CCDS4125.1, CCDS75289.1	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			2013-01-10			ENSG00000172869	ENSG00000172869	ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	"WD repeat domain containing"	2937	2937	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605671	605671						10708522	10708522	Standard	Standard	NM_005509	NM_005509		Approved		uc003ksd.2	uc003ksd.2	Q9Y485	Q9Y485	OTTHUMG00000128898	OTTHUMG00000128898	ENST00000311085.8:c.2076C>T	5.37:g.118469695C>T			DMXL1_ENST00000539542.1_Silent_p.D692D	p.D692D	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	12	2156	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	692			Silent	SNP	ENST00000311085.8	37	c.2076C>T	CCDS4125.1																																																																																									0.428	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1		143.937543	-10	-10	114	114	NM_005509		46	144.23893	144.23893	58	0.442308	0	0	0	1	0	46	58	0.442308	T	118469695	C	T	118469695	2	4	47	1	0	0	0	0	0	0	0	1	4594	535	19	1		1	DMXL1	5	118469695	Silent	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		118469695	62445565	10	877											
SQSTM1	8878	broad.mit.edu	37	5	179251203	179251203	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr5:179251203C>T	ENST00000389805.4	+	4	731	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	SQSTM1_ENST00000376929.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000402874.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000360718.5_Missense_Mutation_p.L101F|SQSTM1_ENST00000510187.1_Missense_Mutation_p.L185F	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	185	Interaction with GABRR3. {ECO:0000250}.|LIM protein-binding (LB).				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCGCTGGCTCCGGAAGGT	0.667																																						ENST00000389805.4											0			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(553-555)Ctc>Ttc	sequestosome 1						43	50	48					5																	179251203		2203	4300	6503	SO:0001583	missense	8878			anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179251203C>T	U46751	U46751	CCDS34317.1, CCDS47355.1	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011	ENSG00000161011	ENSG00000161011				11280	11280	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601530	601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	8650207, 8551575	Standard	Standard	NM_003900	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	uc003mkw.4	Q13501	Q13501	OTTHUMG00000150643	OTTHUMG00000150643	ENST00000389805.4:c.553C>T	5.37:g.179251203C>T	ENSP00000374455:p.Leu185Phe		SQSTM1_ENST00000376929.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000402874.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000360718.5_Missense_Mutation_p.L101F|SQSTM1_ENST00000510187.1_Missense_Mutation_p.L185F	p.L185F	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	731	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	185	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.553C>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	9.862	1.196529	0.22037	.	.	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000422245;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;T;T;D;D;T;D	0.82433	-1.6;1.91;1.45;-1.61;-1.6;2.44;-1.6	4.79	4.79	0.61399	4.79	4.79	0.61399	.	0.200482	0.45867	D	0.000338	T	0.80093	0.4560	L	0.52364	1.645	0.45995	D	0.998802	B;B	0.22276	0.001;0.067	B;B	0.24269	0.004;0.052	T	0.77109	-0.2709	10	0.42905	T	0.14	-33.0609	16.3966	0.83607	0.0:1.0:0.0:0.0	.	185;185	Q13501;E7EMC7	SQSTM_HUMAN;.	F	101;101;101;185;41;101;185;101	ENSP00000366128:L101F;ENSP00000427308:L101F;ENSP00000394534:L101F;ENSP00000374455:L185F;ENSP00000385553:L101F;ENSP00000424477:L185F;ENSP00000353944:L101F	ENSP00000353944:L101F	L	+	1	0	0	SQSTM1	179183809	179183809	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	1.684000	0.37649	2.367000	0.80283	0.561000	0.74099	CTC		0.667	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1		63.470986	-6	-6	56	56			21	63.490831	63.490831	23	0.477273	0	0	0	1	0	21	23	0.477273	T	179251203	C	T	179251203	3	4	47	1	0	0	0	0	1	0	0	0	15129	797	28	2	567	2	SQSTM1	5	179251203	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	60781508	179251203	1664057	11	878											
FOXF2	2295	broad.mit.edu	37	6	1391338	1391338	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr6:1391338C>T	ENST00000259806.1	+	1	1270	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	386					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CCAGAACGCTCGCGAGGACCT	0.677																																						ENST00000259806.1											0			large_intestine(2)|lung(5)|prostate(1)	8						c.(1156-1158)Cgc>Tgc	forkhead box F2						18	17	17					6																	1391338		2166	4236	6402	SO:0001583	missense	2295			epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1391338C>T	U13220	U13220	CCDS4472.1	CCDS4472.1	6p25.3	2008-04-10			2008-04-10			ENSG00000137273	ENSG00000137273	ENSG00000137273	ENSG00000137273		"Forkhead boxes"	"Forkhead boxes"	3810	3810	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603250	603250		FKHL6		FKHL6		9799607, 7957066	9799607, 7957066	Standard	Standard	NM_001452	NM_001452		Approved	FREAC2	uc003mtm.3	uc003mtm.3	Q12947	Q12947	OTTHUMG00000016243	OTTHUMG00000016243	ENST00000259806.1:c.1156C>T	6.37:g.1391338C>T	ENSP00000259806:p.Arg386Cys			p.R386C	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	1270	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	386		Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	c.1156C>T	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222901	0.58668	.	.	ENSG00000137273	ENST00000259806	D	0.93189	-3.18	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.177694	0.34268	N	0.004119	D	0.93903	0.8049	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.57846	0.828	D	0.94263	0.7504	10	0.62326	D	0.03	.	16.1463	0.81575	0.0:1.0:0.0:0.0	.	386	Q12947	FOXF2_HUMAN	C	386	ENSP00000259806:R386C	ENSP00000259806:R386C	R	+	1	0	0	FOXF2	1336337	1336337	0.995000	0.38212	0.984000	0.44739	0.907000	0.53573	0.598000	0.24074	2.375000	0.81037	0.561000	0.74099	CGC		0.677	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1		30.248096	-4	-4	20	20			10	30.259389	30.259389	9	0.526316	0	0	0	1	0	10	9	0.526316	T	1391338	C	T	1391338	3	4	47	1	0	0	0	0	1	0	0	0	6006	884	31	1	1158	1	FOXF2	6	1391338	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		1391338	169723729	12	879											
BZW2	28969	broad.mit.edu	37	7	16722416	16722416	+	Silent	SNP	A	A	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:16722416A>G	ENST00000433922.2	+	5	529	c.351A>G	c.(349-351)aaA>aaG	p.K117K	BZW2_ENST00000258761.3_Silent_p.K117K|BZW2_ENST00000452975.2_Silent_p.K117K|BZW2_ENST00000405202.1_Silent_p.K41K|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	117					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TCTTCAATAAACTCATCAGGA	0.289																																						ENST00000433922.2											0			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(349-351)aaA>aaG	basic leucine zipper and W2 domains 2						46	49	48					7																	16722416		2200	4296	6496	SO:0001819	synonymous_variant	28969			cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16722416A>G	AF083246	AF083246	CCDS5362.1	CCDS5362.1	7p21.3	2008-07-18			2008-07-18			ENSG00000136261	ENSG00000136261	ENSG00000136261	ENSG00000136261				18808	18808	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11042152	11042152	Standard	Standard	NM_001159767	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	uc003stj.2	Q9Y6E2	Q9Y6E2	OTTHUMG00000130755	OTTHUMG00000130755	ENST00000433922.2:c.351A>G	7.37:g.16722416A>G			BZW2_ENST00000258761.3_Silent_p.K117K|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000405202.1_Silent_p.K41K|BZW2_ENST00000452975.2_Silent_p.K117K	p.K117K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	5	529	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		117		A4D123|Q3B779|Q96JW5|Q9H3F7	Silent	SNP	ENST00000433922.2	37	c.351A>G	CCDS5362.1																																																																																									0.289	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2		11.725608	-1	-1	42	42	NM_014038		6	16.421173	16.421173	34	0.15	0	0	0	1	0	6	34	0.15	G	16722416	A	G	16722416	2	3	47	1	0	0	0	0	0	0	0	1	1579	40	2	4		4	BZW2	7	16722416	Silent	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		16722416	142416247	13	880											
HOXA4	3201	broad.mit.edu	37	7	27168859	27168859	+	Silent	SNP	A	A	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:27168859A>T	ENST00000360046.5	-	2	1013	c.948T>A	c.(946-948)gtT>gtA	p.V316V	HOXA3_ENST00000521401.1_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Silent_p.V316V|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000517550.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	316					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						tggaggagggaacgggtgtgg	0.572																																						ENST00000360046.5											0			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(946-948)gtT>gtA	homeobox A4						87	97	94					7																	27168859		2203	4300	6503	SO:0001819	synonymous_variant	3201				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27168859A>T			CCDS5405.1	CCDS5405.1	7p15.2	2011-06-20	2005-12-22		2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576	ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	"Homeoboxes / ANTP class : HOXL subclass"	5105	5105	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142953	142953	"homeo box A4"	HOX1D, HOX1	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	1973146, 1358459	Standard	Standard	NM_002141	NM_002141		Approved		uc003sym.4	uc003sym.4	Q00056	Q00056	OTTHUMG00000023213	OTTHUMG00000023213	ENST00000360046.5:c.948T>A	7.37:g.27168859A>T			HOXA4_ENST00000428284.2_Silent_p.V316V|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron	p.V316V	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	1013	-			316		A4D180|O43366	Silent	SNP	ENST00000360046.5	37	c.948T>A	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	A	3.350	-0.132749	0.06711	.	.	ENSG00000197576	ENST00000511914	.	.	.	5.42	1.4	0.22301	5.42	1.4	0.22301	.	.	.	.	.	T	0.43809	0.1264	.	.	.	0.36697	D	0.87992	.	.	.	.	.	.	T	0.40739	-0.9547	4	.	.	.	.	3.2044	0.06661	0.4841:0.0:0.334:0.1819	.	.	.	.	T	136	.	.	S	-	1	0	0	HOXA4	27135384	27135384	0.999000	0.42202	0.976000	0.42696	0.813000	0.45954	1.349000	0.33998	0.464000	0.27142	0.529000	0.55759	TCC		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4		19.889726	-10	-10	39	39			8	20.747266	20.747266	18	0.307692	0	0	0	1	0	8	18	0.307692	T	27168859	A	T	27168859	2	4	47	1	0	0	0	0	0	0	0	1	7294	233	9	5		5	HOXA4	7	27168859	Silent	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08	10446443	27168859	131969804	14	881											
STYXL1	51657	broad.mit.edu	37	7	75625885	75625885	+	Silent	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:75625885G>A	ENST00000248600.1	-	9	1185	c.843C>T	c.(841-843)aaC>aaT	p.N281N	STYXL1_ENST00000431581.1_Silent_p.N281N|STYXL1_ENST00000340062.5_Silent_p.N185N|STYXL1_ENST00000359697.3_Silent_p.N281N|STYXL1_ENST00000360591.3_3'UTR|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	281	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACACATGTTGTTTTTGCACT	0.478																																						ENST00000248600.1											0			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(841-843)aaC>aaT	serine/threonine/tyrosine interacting-like 1						164	133	143					7																	75625885		2203	4300	6503	SO:0001819	synonymous_variant	51657			intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75625885G>A	AF069762	AF069762	CCDS5580.1	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	18165	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"dual specificity phosphatase 24 (putative)"	DUSP24	"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	9757831	Standard	Standard	NM_016086	NM_016086		Approved	MK-STYX	uc003uel.3	uc003uel.3	Q9Y6J8	Q9Y6J8	OTTHUMG00000130459	OTTHUMG00000130459	ENST00000248600.1:c.843C>T	7.37:g.75625885G>A			STYXL1_ENST00000431581.1_Silent_p.N281N|STYXL1_ENST00000340062.5_Silent_p.N185N|STYXL1_ENST00000359697.3_Silent_p.N281N|STYXL1_ENST00000360591.3_3'UTR	p.N281N	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN			9	1185	-			281	Tyrosine-protein phosphatase.	Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Silent	SNP	ENST00000248600.1	37	c.843C>T	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502381	0.44455	.	.	ENSG00000127952	ENST00000404050;ENST00000454618	.	.	.	4.96	-0.315	0.12746	4.96	-0.315	0.12746	.	1.082260	0.07045	N	0.830932	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8894	1.5846	0.02641	0.2395:0.2577:0.3712:0.1316	.	.	.	.	X	244;199	.	ENSP00000385904:Q244X	Q	-	1	0	0	STYXL1	75463821	75463821	0.796000	0.28864	0.296000	0.24974	0.946000	0.59487	0.947000	0.29082	-0.130000	0.11599	0.561000	0.74099	CAA		0.478	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1		95.827466	-33	-33	57	57	NM_016086		31	95.860772	95.860772	28	0.525424	0	0	0	1	0	31	28	0.525424	A	75625885	G	A	75625885	2	1	47	1	0	0	0	0	0	0	0	1	15360	1368	48	3		3	STYXL1	7	75625885	Silent	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08	48457026	75625885	83512778	15	882											
FAM71F1	84691	broad.mit.edu	37	7	128363345	128363345	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:128363345C>T	ENST00000315184.5	+	4	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	261								p.A261V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502																																						ENST00000315184.5											1	Substitution - Missense(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(781-783)gCc>gTc	family with sequence similarity 71, member F1						118	116	117					7																	128363345		2203	4300	6503	SO:0001583	missense	84691						g.chr7:128363345C>T	AF367470	AF367470	CCDS5804.1, CCDS64763.1	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248	ENSG00000135248	ENSG00000135248				30704	30704	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"family with sequence similarity 137, member A"	FAM137A	"family with sequence similarity 137, member A"	FAM137A		12477932	12477932	Standard	Standard	XM_005250645	XM_005250645		Approved	NYD-SP18	uc003vno.1	uc003vno.1	Q96KD3	Q96KD3	OTTHUMG00000158276	OTTHUMG00000158276	ENST00000315184.5:c.782C>T	7.37:g.128363345C>T	ENSP00000326652:p.Ala261Val		FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V|FAM71F1_ENST00000469348.1_3'UTR	p.A261V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN			4	835	+			261		Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.782C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717581	0.48622	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.24151	1.87;3.23;1.92	5.2	3.36	0.38483	5.2	3.36	0.38483	.	0.643829	0.14692	N	0.304119	T	0.17365	0.0417	L	0.33485	1.01	0.26152	N	0.980124	B;B;B;B;B	0.18310	0.011;0.01;0.003;0.002;0.027	B;B;B;B;B	0.15052	0.012;0.006;0.004;0.002;0.006	T	0.17992	-1.0351	10	0.30854	T	0.27	-2.5683	6.5261	0.22303	0.1782:0.7313:0.0:0.0905	.	153;261;261;261;162	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	V	162;261;117	ENSP00000418192:A162V;ENSP00000326652:A261V;ENSP00000417930:A117V	ENSP00000326652:A261V	A	+	2	0	0	FAM71F1	128150581	128150581	0.133000	0.22466	0.998000	0.56505	0.995000	0.86356	0.071000	0.14594	0.862000	0.35528	0.555000	0.69702	GCC		0.502	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2		-10.770608	-28	-28	68	68	NM_032599		4	8.088225	8.088225	82	0.046512	0	0	0	1	0	4	82	0.046512	T	128363345	C	T	128363345	3	4	47	1	0	0	0	0	1	0	0	0	5612	739	26	2	796	2	FAM71F1	7	128363345	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	52737460	128363345	30775318	16	883											
ST18	9705	broad.mit.edu	37	8	53030985	53030985	+	Silent	SNP	T	T	C			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr8:53030985T>C	ENST00000276480.7	-	24	3455	c.2772A>G	c.(2770-2772)gaA>gaG	p.E924E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	924					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)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCCTAATTTCTTCATCACTCT	0.308																																						ENST00000276480.7											0			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2770-2772)gaA>gaG	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)						142	137	139					8																	53030985		2202	4297	6499	SO:0001819	synonymous_variant	9705				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53030985T>C	AB011107	AB011107	CCDS6149.1	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	"Zinc fingers, C2HC-type containing"	18695	18695	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"	"neural zinc finger transcription factor 3"			"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387	"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	15489893	Standard	Standard	NM_014682	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	uc003xra.2	O60284	O60284	OTTHUMG00000164233	OTTHUMG00000164233	ENST00000276480.7:c.2772A>G	8.37:g.53030985T>C				p.E924E	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			24	3455	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	924		Q17RY1	Silent	SNP	ENST00000276480.7	37	c.2772A>G	CCDS6149.1																																																																																									0.308	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		-12.337843	-23	-23	70	70			3	6.745674	6.745674	79	0.036585	0	0	0	1	0	3	79	0.036585	C	53030985	T	C	53030985	2	2	47	1	0	0	0	0	0	0	0	1	15211	1606	56	4		4	ST18	8	53030985	Silent	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08		53030985	93333037	17	884											
GNAQ	2776	broad.mit.edu	37	9	80537255	80537255	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr9:80537255C>A	ENST00000286548.4	-	2	365	c.143G>T	c.(142-144)gGa>gTa	p.G48V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	48					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GCCACTCTCTCCTGTCCCTGA	0.448			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	0			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(142-144)gGa>gTa	guanine nucleotide binding protein (G protein), q polypeptide						164	154	157					9																	80537255		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80537255C>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.143G>T	9.37:g.80537255C>A	ENSP00000286548:p.Gly48Val			p.G48V	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			2	365	-			48		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.143G>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769355	0.90020	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	T;D	0.90133	-1.16;-2.62	5.87	5.87	0.94306	5.87	5.87	0.94306	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98541	1.0632	10	0.72032	D	0.01	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	48	P50148	GNAQ_HUMAN	V	48;19	ENSP00000286548:G48V;ENSP00000391501:G19V	ENSP00000286548:G48V	G	-	2	0	0	GNAQ	79727075	79727075	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGA		0.448	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		72.354486	-47	-47	81	81	NM_002072		25	73.613242	73.613242	45	0.357143	1	0	2.14196e-07	1	2.20889e-07	25	45	0.357143	A	80537255	C	A	80537255	3	1	47	1	0	0	0	0	1	0	0	0	6509	855	30	5	960	5	GNAQ	9	80537255	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		80537255	60676176	18	885	13	2									
GNAQ	2776	broad.mit.edu	37	9	80537256	80537256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr9:80537256C>A	ENST00000286548.4	-	2	364	c.142G>T	c.(142-144)Gga>Tga	p.G48*		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	48					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCACTCTCTCCTGTCCCTGAA	0.448			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	0			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(142-144)Gga>Tga	guanine nucleotide binding protein (G protein), q polypeptide						162	152	156					9																	80537256		2203	4300	6503	SO:0001587	stop_gained	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80537256C>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.142G>T	9.37:g.80537256C>A	ENSP00000286548:p.Gly48*			p.G48*	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			2	364	-			48		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Nonsense_Mutation	SNP	ENST00000286548.4	37	c.142G>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	39	7.540765	0.98348	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	.	.	.	X	48;19	.	ENSP00000286548:G48X	G	-	1	0	0	GNAQ	79727076	79727076	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGA		0.448	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		70.378349	-47	-47	79	79	NM_002072		24	71.78905	71.78905	45	0.347826	1	0	1.74197e-06	1	1.74197e-06	24	45	0.347826	A	80537256	C	A	80537256	4	1	47	1	0	0	0	0	0	1	0	0	6509	690	24	5	961	5	GNAQ	9	80537256	Nonsense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	1	80537256	60676175	19	886	13	2									
NCAM1	4684	broad.mit.edu	37	11	113102955	113102955	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr11:113102955C>T	ENST00000533760.1	+	10	1519	c.920C>T	c.(919-921)aCc>aTc	p.T307I	NCAM1_ENST00000316851.7_Missense_Mutation_p.T425I|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T434I	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	435					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGAACATCACCTGCGAGGTA	0.512																																						ENST00000316851.7											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1273-1275)aCc>aTc	neural cell adhesion molecule 1						65	66	65					11																	113102955		1978	4173	6151	SO:0001583	missense	4684			axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102955C>T			CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			2013-02-11			ENSG00000149294	ENSG00000149294	ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	7656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			116930	116930								Standard	Standard	NM_000615	NM_000615		Approved	NCAM, CD56	uc021qqp.1	uc021qqp.1	P13591	P13591	OTTHUMG00000167196	OTTHUMG00000167196	ENST00000533760.1:c.920C>T	11.37:g.113102955C>T	ENSP00000473281:p.Thr307Ile		NCAM1_ENST00000533760.1_Missense_Mutation_p.T307I|NCAM1_ENST00000401611.2_Missense_Mutation_p.T434I|NCAM1_ENST00000397957.4_3'UTR	p.T425I	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	10	1274	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	435	Ig-like C2-type 5.	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1274C>T		.	.	.	.	.	.	.	.	.	.	C	24.4	4.531194	0.85706	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.69040	-0.37;-0.37	5.51	5.51	0.81932	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060472	0.64402	U	0.000004	D	0.83547	0.5278	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.76575	0.984;0.97;0.982;0.988	D	0.85038	0.0921	9	0.87932	D	0	-29.2533	19.7829	0.96424	0.0:1.0:0.0:0.0	.	435;425;435;425	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	I	307;434;425	ENSP00000384055:T434I;ENSP00000318472:T425I	ENSP00000318472:T425I	T	+	2	0	0	NCAM1	112608165	112608165	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.991000	0.63883	2.758000	0.94735	0.460000	0.39030	ACC		0.512	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2		32.519216	-23	-23	23	23	NM_000615		11	32.80049	32.80049	17	0.392857	0	0	0	1	0	11	17	0.392857	T	113102955	C	T	113102955	3	4	47	1	0	0	0	0	1	0	0	0	10202	507	18	3	1347	3	NCAM1	11	113102955	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		113102955	21903561	20	887											
HEPN1	641654	broad.mit.edu	37	11	124789907	124789907	+	Silent	SNP	A	A	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr11:124789907A>G	ENST00000408930.5	+	1	762	c.261A>G	c.(259-261)ttA>ttG	p.L87L	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	87						cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TTTTGATGTTAGTGTGATTAG	0.547																																						ENST00000408930.5											0			large_intestine(1)|lung(1)|stomach(1)	3						c.(259-261)ttA>ttG	hepatocellular carcinoma, down-regulated 1						59	61	61					11																	124789907		1945	4142	6087	SO:0001819	synonymous_variant	641654				cytoplasm		g.chr11:124789907A>G	BC148521	BC148521	CCDS41729.1	CCDS41729.1	11q24	2013-07-02	2011-02-11		2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932	ENSG00000221932	ENSG00000221932				34400	34400	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cancer susceptibility gene HEPN1"	"cancer susceptibility gene HEPN1"	611641	611641	"HEPACAM opposite strand 1"		"HEPACAM opposite strand 1"			12971969, 23548416	12971969, 23548416	Standard	Standard	NM_001037558	NM_001037558		Approved		uc001qbj.1	uc001qbj.1	Q6WQI6	Q6WQI6	OTTHUMG00000165939	OTTHUMG00000165939	ENST00000408930.5:c.261A>G	11.37:g.124789907A>G			HEPACAM_ENST00000298251.4_3'UTR	p.L87L	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)	1	762	+	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	87			Silent	SNP	ENST00000408930.5	37	c.261A>G	CCDS41729.1																																																																																									0.547	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1		54.436160	-25	-25	58	58	NM_001037558		18	55.408161	55.408161	33	0.352941	0	0	0	1	0	18	33	0.352941	G	124789907	A	G	124789907	2	3	47	1	0	0	0	0	0	0	0	1	7056	417	15	4		4	HEPN1	11	124789907	Silent	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08	11686952	124789907	10216609	21	888											
BRCA2	675	broad.mit.edu	37	13	32945119	32945119	+	Missense_Mutation	SNP	A	A	T	rs544212043		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr13:32945119A>T	ENST00000380152.3	+	20	8747	c.8514A>T	c.(8512-8514)ttA>ttT	p.L2838F	BRCA2_ENST00000544455.1_Missense_Mutation_p.L2838F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2838					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CATCTGGATTATACATATTTC	0.373			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8512-8514)ttA>ttT	breast cancer 2, early onset						84	82	82					13																	32945119		2203	4300	6503	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32945119A>T	U43746	U43746	CCDS9344.1	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	"Fanconi anemia, complementation groups"	1101	1101	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	"BRCA1/BRCA2-containing complex, subunit 2"	600185	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	8091231, 7581463, 15057823	Standard	Standard	NM_000059	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	uc001uub.1	P51587	P51587	OTTHUMG00000017411	OTTHUMG00000017411	ENST00000380152.3:c.8514A>T	13.37:g.32945119A>T	ENSP00000369497:p.Leu2838Phe		BRCA2_ENST00000380152.3_Missense_Mutation_p.L2838F	p.L2838F	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	20	8741	+		Lung SC(185;0.0262)	2838		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8514A>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.573775	0.28092	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.59364	0.27;0.27	5.1	-0.309	0.12769	5.1	-0.309	0.12769	Nucleic acid-binding, OB-fold-like (1);Tower (1);	0.828622	0.10977	N	0.613109	T	0.46464	0.1394	L	0.47716	1.5	0.25184	N	0.990187	B	0.25390	0.125	B	0.29598	0.104	T	0.37220	-0.9715	10	0.23891	T	0.37	.	7.4138	0.27032	0.2368:0.341:0.4222:0.0	.	2838	P51587	BRCA2_HUMAN	F	2838	ENSP00000369497:L2838F;ENSP00000439902:L2838F	ENSP00000369497:L2838F	L	+	3	2	2	BRCA2	31843119	31843119	0.000000	0.05858	0.985000	0.45067	0.996000	0.88848	-1.057000	0.03486	-0.071000	0.12886	0.397000	0.26171	TTA		0.373	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		47.689012	-18	-18	43	43	NM_000059		16	48.408471	48.408471	28	0.363636	0	0	0	1	0	16	28	0.363636	T	32945119	A	T	32945119	3	4	47	1	0	0	0	0	1	0	0	0	1499	446	16	5	8588	5	BRCA2	13	32945119	Missense_Mutation	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		32945119	82224759	22	889	14	2									
BRCA2	675	broad.mit.edu	37	13	32945125	32945135	+	Frame_Shift_Del	DEL	ATTTCGCAATG	ATTTCGCAATG	-	rs80359105|rs80359104|rs80359107|rs397507989|rs397507990		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr13:32945125_32945135delATTTCGCAATG	ENST00000380152.3	+	20	8753_8763	c.8520_8530delATTTCGCAATG	c.(8518-8532)atatttcgcaatgaafs	p.FRNE2841fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.FRNE2841fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2841					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.F2841I(2)|p.R2842C(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GATTATACATATTTCGCAATGAAAGAGAGGA	0.355			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	3	Substitution - Missense(3)	kidney(2)|oesophagus(1)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CD030579	BRCA2	D	rs80359107	c.(8518-8532)atatttcgcaatgaafs	breast cancer 2, early onset																																			SO:0001589	frameshift_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32945125_32945135delATTTCGCAATG	U43746	U43746	CCDS9344.1	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	"Fanconi anemia, complementation groups"	1101	1101	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	"BRCA1/BRCA2-containing complex, subunit 2"	600185	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	8091231, 7581463, 15057823	Standard	Standard	NM_000059	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	uc001uub.1	P51587	P51587	OTTHUMG00000017411	OTTHUMG00000017411	ENST00000380152.3:c.8520_8530delATTTCGCAATG	13.37:g.32945125_32945135delATTTCGCAATG	ENSP00000369497:p.Phe2841fs		BRCA2_ENST00000380152.3_Frame_Shift_Del_p.FRNE2841fs	p.FRNE2841fs	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	20	8747_8757	+		Lung SC(185;0.0262)	2841		O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.8520_8530delATTTCGCAATG	CCDS9344.1																																																																																									0.355	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	.	.	-8	-8	47	47	NM_000059		17			36	0.32						17	36	0.32	-	32945135	ATTTCGCAATG	-	32945125	7	5	47	1	0	1	0	1	0	0	0	0	1499	439	16	0	8594	0	BRCA2	13	32945125	Frame_Shift_Del	DEL	ATTTCGCAATG	TCGA-VD-A8KI-01A-11D-A39W-08	6	32945125	82224753	23	890	14	2									
REC8	79711	ucsc.edu	37	14	24648841	24648841	+	IGR	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr14:24648841C>T	ENST00000354464.6	-	0	3646				REC8_ENST00000559919.1_Missense_Mutation_p.P453S|REC8_ENST00000559939.1_3'UTR|REC8_ENST00000311457.3_Missense_Mutation_p.P453S	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCCTGCATTGCCCGTGGTGCC	0.622																																																	0																	69	80	76					14																	24648841		2128	4234	6362	SO:0001628	intergenic_variant	9985							AF411122	AF006264	CCDS9616.1	CCDS41932.1	14q11.2	2003-03-10			2013-08-06	2013-08-06	2007-04-03	ENSG00000196497	ENSG00000196497		ENSG00000100918		"Importins"		19426	16879	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				608193			"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1		11823430	10207075, 15935783, 12759374	Standard	Standard	NR_051979	NM_005132		Approved	Imp4, FLJ23338	uc001wmv.1	uc001wms.3	Q8TEX9	O95072	OTTHUMG00000028801			14.37:g.24648841C>T																		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37		CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501840	0.64298	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.24151	1.87	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.277767	0.35525	N	0.003145	T	0.34687	0.0906	L	0.34521	1.04	0.34748	D	0.731463	D;D	0.67145	0.996;0.994	P;P	0.61477	0.889;0.777	T	0.35699	-0.9778	10	0.35671	T	0.21	-7.605	12.7355	0.57220	0.0:0.835:0.165:0.0	.	437;454	O95072-2;O95072	.;REC8_HUMAN	S	453;436	ENSP00000308699:P453S	ENSP00000308699:P453S	P	+	1	0	0	REC8	23718681	23718681	1.000000	0.71417	0.977000	0.42913	0.621000	0.37620	2.601000	0.46249	2.627000	0.88993	0.456000	0.33151	CCC		0.622	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4			-26	-26	60	60	NM_024658		4			35							4	35		T	24648841	C	T	24648841	1	4	47	0	1	0	0	0	0	0	0	0	13199	739	26	2		2	REC8	14	24648841	IGR	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		24648841	82700699	24	891											
TYRO3	7301	broad.mit.edu	37	15	41863798	41863798	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr15:41863798A>G	ENST00000263798.3	+	14	1890	c.1666A>G	c.(1666-1668)Atc>Gtc	p.I556V	TYRO3_ENST00000559066.1_Missense_Mutation_p.I511V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	556	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTAGCTGACATCATTGCCTC	0.502																																						ENST00000263798.3											0			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(1666-1668)Atc>Gtc	TYRO3 protein tyrosine kinase						110	97	101					15																	41863798		2203	4300	6503	SO:0001583	missense	7301				integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41863798A>G	D50479	D50479	CCDS10080.1	CCDS10080.1	15q15.1-q21.1	2013-02-11			2013-02-11			ENSG00000092445	ENSG00000092445	ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	12446	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600341	600341		RSE		RSE		7851890	7851890	Standard	Standard	NM_006293	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	uc001zof.2	Q06418	Q06418	OTTHUMG00000130341	OTTHUMG00000130341	ENST00000263798.3:c.1666A>G	15.37:g.41863798A>G	ENSP00000263798:p.Ile556Val		TYRO3_ENST00000559066.1_Missense_Mutation_p.I511V	p.I556V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	14	1890	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	556	Protein kinase.	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.1666A>G	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542258	0.65198	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.82344	-1.6	6.16	6.16	0.99307	6.16	6.16	0.99307	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43260	D	0.000581	T	0.81842	0.4908	N	0.25485	0.75	0.80722	D	1	P	0.46578	0.88	P	0.52031	0.688	T	0.79787	-0.1656	10	0.27082	T	0.32	-20.8649	16.8061	0.85666	1.0:0.0:0.0:0.0	.	556	Q06418	TYRO3_HUMAN	V	488;556	ENSP00000263798:I556V	ENSP00000263798:I556V	I	+	1	0	0	TYRO3	39651090	39651090	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	ATC		0.502	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		146.962298	-5	-5	65	65			46	147.698694	147.698694	30	0.605263	0	0	0	1	0	46	30	0.605263	G	41863798	A	G	41863798	3	3	47	1	0	0	0	0	1	0	0	0	16811	217	8	4	1720	4	TYRO3	15	41863798	Missense_Mutation	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		41863798	60667594	25	892											
MAPKBP1	23005	broad.mit.edu	37	15	42117611	42117611	+	Missense_Mutation	SNP	C	C	T	rs533499391		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr15:42117611C>T	ENST00000456763.2	+	32	4718	c.4522C>T	c.(4522-4524)Cgg>Tgg	p.R1508W	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225W|PLA2G4B_ENST00000542534.2_5'Flank|JMJD7_ENST00000408047.1_5'Flank|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R1502W|JMJD7-PLA2G4B_ENST00000342159.4_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_5'Flank|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|JMJD7_ENST00000397299.4_5'Flank	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1508										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCCGTGGAACGGCGTATGGA	0.587													c|||	1	0.000199681	8e-04	0	5008	,	,		19087	0		0	False		,,,				2504	0					ENST00000457542.2											0			breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4504-4506)Cgg>Tgg	mitogen-activated protein kinase binding protein 1						30	29	30					15																	42117611		2203	4300	6503	SO:0001583	missense	23005						g.chr15:42117611C>T	AB011168	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802	ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	"WD repeat domain containing"	29536	29536	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"mitogen activated protein kinase binding protein 1"		"mitogen activated protein kinase binding protein 1"			9628581, 10471813	9628581, 10471813	Standard	Standard	NM_014994	NM_014994		Approved	KIAA0596	uc001zok.4	uc001zok.4	O60336	O60336	OTTHUMG00000160227	OTTHUMG00000160227	ENST00000456763.2:c.4522C>T	15.37:g.42117611C>T	ENSP00000393099:p.Arg1508Trp		RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1508W	p.R1502W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	31	4790	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1508		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.4504C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	17.86	3.492570	0.64074	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.63096	0.28;0.31;-0.02;0.33;0.14	4.64	3.68	0.42216	4.64	3.68	0.42216	.	0.281258	0.30800	N	0.008860	T	0.75079	0.3801	M	0.67397	2.05	0.30984	N	0.72215	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.986;1.0;1.0	P;P;P;P;D;D	0.87578	0.781;0.855;0.763;0.636;0.969;0.998	T	0.75619	-0.3255	10	0.87932	D	0	-5.3019	12.1831	0.54223	0.3021:0.6979:0.0:0.0	.	1341;1383;1341;1225;1508;1502	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	W	1502;1385;1341;1508;1225	ENSP00000397570:R1502W;ENSP00000221214:R1385W;ENSP00000260357:R1341W;ENSP00000393099:R1508W;ENSP00000426154:R1225W	ENSP00000221214:R1385W	R	+	1	2	2	MAPKBP1	39904903	39904903	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	1.579000	0.36536	2.409000	0.81822	0.655000	0.94253	CGG		0.587	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1		82.918470	-9	-9	10	10	NM_014994		24	86.360584	86.360584	4	0.857143	0	0	0	1	0	24	4	0.857143	T	42117611	C	T	42117611	3	4	47	1	0	0	0	0	1	0	0	0	9292	527	19	1	4644	1	MAPKBP1	15	42117611	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	253813	42117611	60413781	26	893											
NOD2	64127	broad.mit.edu	37	16	50757249	50757249	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr16:50757249G>A	ENST00000300589.2	+	9	2941	c.2836G>A	c.(2836-2838)Gcc>Acc	p.A946T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	946					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGGTGCCCAAGCCTTGGCACT	0.507																																						ENST00000300589.2											0			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2836-2838)Gcc>Acc	nucleotide-binding oligomerization domain containing 2						150	117	128					16																	50757249		2198	4300	6498	SO:0001583	missense	64127			activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50757249G>A	AF178930	AF178930	CCDS10746.1	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	"Nucleotide-binding domain and leucine rich repeat containing"	5331	5331	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	7809109, 8587604	Standard	Standard	XM_005256084	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	uc002egm.1	Q9HC29	Q9HC29	OTTHUMG00000133171	OTTHUMG00000133171	ENST00000300589.2:c.2836G>A	16.37:g.50757249G>A	ENSP00000300589:p.Ala946Thr			p.A946T	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			9	2941	+		all_cancers(37;0.0156)	946		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2836G>A	CCDS10746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.035405|4.035405	0.75617|0.75617	.|.	.|.	ENSG00000167207|ENSG00000167207	ENST00000526417;ENST00000300589;ENST00000431240|ENST00000534057	T|.	0.55413|.	0.52|.	5.76|5.76	5.76|5.76	0.90799|0.90799	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.078127|.	0.51477|.	D|.	0.000094|.	T|T	0.79125|0.79125	0.4393|0.4393	M|M	0.84773|0.84773	2.715|2.715	0.47065|0.47065	D|D	0.999301|0.999301	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	T|T	0.80710|0.80710	-0.1261|-0.1261	10|5	0.40728|.	T|.	0.16|.	.|.	15.4739|15.4739	0.75461|0.75461	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	919;946|.	Q9HC29-2;Q9HC29|.	.;NOD2_HUMAN|.	T|N	919;946;86|157	ENSP00000300589:A946T|.	ENSP00000300589:A946T|.	A|S	+|+	1|2	0|0	0|0	NOD2|NOD2	49314750|49314750	49314750|49314750	0.999000|0.999000	0.42202|0.42202	0.951000|0.951000	0.38953|0.38953	0.334000|0.334000	0.28698|0.28698	3.732000|3.732000	0.55021|0.55021	2.732000|2.732000	0.93576|0.93576	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.507	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2		29.942697	-13	-13	22	22	NM_022162		10	30.341515	30.341515	17	0.37037	0	0	0	1	0	10	17	0.37037	A	50757249	G	A	50757249	3	1	47	1	0	0	0	0	1	0	0	0	10517	971	34	2	2870	2	NOD2	16	50757249	Missense_Mutation	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08		50757249	39597504	27	894											
FANCA	2175	broad.mit.edu	37	16	89882378	89882378	+	Silent	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr16:89882378C>T	ENST00000389301.3	-	2	126	c.96G>A	c.(94-96)agG>agA	p.R32R	FANCA_ENST00000534992.1_Silent_p.R32R|FANCA_ENST00000563673.1_Silent_p.R32R|FANCA_ENST00000389302.3_Silent_p.R32R|FANCA_ENST00000543736.1_Silent_p.R32R|FANCA_ENST00000568369.1_Silent_p.R32R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	32					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TATATTTTTCCCTCTTGACCC	0.552			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(94-96)agG>agA	Fanconi anemia, complementation group A						112	99	104					16																	89882378		2198	4300	6498	SO:0001819	synonymous_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89882378C>T	Z83067	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			2014-09-17			ENSG00000187741	ENSG00000187741	ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	"Fanconi anemia, complementation groups"	3582	3582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607139	607139		FACA, FANCH		FACA, FANCH		7581462, 9382107	7581462, 9382107	Standard	Standard	NM_001286167	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	uc002fou.1	O15360	O15360			ENST00000389301.3:c.96G>A	16.37:g.89882378C>T			FANCA_ENST00000543736.1_Silent_p.R32R|FANCA_ENST00000389302.3_Silent_p.R32R|FANCA_ENST00000563673.1_Silent_p.R32R|FANCA_ENST00000568369.1_Silent_p.R32R|FANCA_ENST00000534992.1_Silent_p.R32R	p.R32R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	2	126	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	32		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.96G>A	CCDS32515.1																																																																																									0.552	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		45.889243	3	3	56	56			16	46.23974	46.23974	24	0.4	0	0	0	1	0	16	24	0.4	T	89882378	C	T	89882378	2	4	47	1	0	0	0	0	0	0	0	1	5662	622	22	3		3	FANCA	16	89882378	Silent	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	39125129	89882378	472375	28	895											
SULF2	55959	broad.mit.edu	37	20	46295178	46295178	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr20:46295178A>T	ENST00000359930.4	-	12	2482	c.1631T>A	c.(1630-1632)gTg>gAg	p.V544E	SULF2_ENST00000467815.1_Missense_Mutation_p.V544E|SULF2_ENST00000484875.1_Missense_Mutation_p.V544E|SULF2_ENST00000361612.4_Missense_Mutation_p.V544E	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	544					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTGCCGTCCACCTCGATGGC	0.627																																						ENST00000359930.4											0			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1630-1632)gTg>gAg	sulfatase 2						91	84	87					20																	46295178		2203	4300	6503	SO:0001583	missense	55959			bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46295178A>T	AY101176	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			2008-05-14			ENSG00000196562	ENSG00000196562	ENSG00000196562	ENSG00000196562				20392	20392	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610013	610013						12368295	12368295	Standard	Standard	NM_018837	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	uc002xto.3	Q8IWU5	Q8IWU5	OTTHUMG00000032675	OTTHUMG00000032675	ENST00000359930.4:c.1631T>A	20.37:g.46295178A>T	ENSP00000353007:p.Val544Glu		SULF2_ENST00000361612.4_Missense_Mutation_p.V544E|SULF2_ENST00000484875.1_Missense_Mutation_p.V544E|SULF2_ENST00000467815.1_Missense_Mutation_p.V544E	p.V544E	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			12	2482	-			544		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1631T>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	A	6.367	0.435806	0.12104	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33	4.6	2.29	0.28610	4.6	2.29	0.28610	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	1.329430	0.04621	N	0.401912	D	0.96929	0.8997	N	0.22421	0.69	0.32422	N	0.54928	B;B	0.28470	0.178;0.213	B;B	0.33339	0.048;0.162	D	0.93975	0.7253	10	0.41790	T	0.15	-3.2586	8.4626	0.32936	0.8315:0.0:0.1685:0.0	.	544;544	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	E	544	ENSP00000353007:V544E;ENSP00000418290:V544E;ENSP00000354662:V544E;ENSP00000418442:V544E	ENSP00000353007:V544E	V	-	2	0	0	SULF2	45728585	45728585	0.358000	0.24947	0.271000	0.24616	0.036000	0.12997	1.856000	0.39389	0.272000	0.22027	-0.400000	0.06385	GTG		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1		81.316729	-43	-43	60	60	NM_018837		27	81.945189	81.945189	41	0.397059	0	0	0	1	0	27	41	0.397059	T	46295178	A	T	46295178	3	4	47	1	0	0	0	0	1	0	0	0	15370	159	6	5	1021	5	SULF2	20	46295178	Missense_Mutation	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		46295178	16730342	29	896											
ATP1B4	23439	broad.mit.edu	37	X	119513467	119513467	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chrX:119513467T>C	ENST00000218008.3	+	8	1109	c.1052T>C	c.(1051-1053)tTt>tCt	p.F351S	ATP1B4_ENST00000539306.1_Missense_Mutation_p.F308S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.F347S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	351					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGGGTAATCTTTACCCTGAAC	0.438																																						ENST00000218008.3											0			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1051-1053)tTt>tCt	ATPase, Na+/K+ transporting, beta 4 polypeptide						109	90	97					X																	119513467		2203	4300	6503	SO:0001583	missense	23439			ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119513467T>C	AF158383	AF158383	CCDS14598.1, CCDS48158.1	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892	ENSG00000101892	ENSG00000101892		"ATPases / P-type"	"ATPases / P-type"	808	808	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"	"Na,K-ATPase beta m-subunit"			"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	10456317, 17592128	Standard	Standard	NM_012069	NM_012069		Approved		uc004esr.3	uc004esr.3	Q9UN42	Q9UN42	OTTHUMG00000022299	OTTHUMG00000022299	ENST00000218008.3:c.1052T>C	X.37:g.119513467T>C	ENSP00000218008:p.Phe351Ser		ATP1B4_ENST00000361319.3_Missense_Mutation_p.F347S|ATP1B4_ENST00000539306.1_Missense_Mutation_p.F308S	p.F351S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			8	1109	+			351		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.1052T>C	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022110	0.75275	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.35973	1.28;1.28;1.28	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73088	-0.4093	10	0.87932	D	0	-18.2946	13.4601	0.61223	0.0:0.0:0.0:1.0	.	308;316;351;347	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	S	351;347;308	ENSP00000218008:F351S;ENSP00000355346:F347S;ENSP00000443334:F308S	ENSP00000218008:F351S	F	+	2	0	0	ATP1B4	119397495	119397495	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.215000	0.77966	1.773000	0.52216	0.486000	0.48141	TTT		0.438	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1		127.628209	-41	-41	66	66	NM_001142447		36	134.019498	134.019498	4	0.9	0	0	0	1	0	36	4	0.9	C	119513467	T	C	119513467	3	2	47	1	0	0	0	0	1	0	0	0	1135	1841	64	4	1082	4	ATP1B4	23	119513467	Missense_Mutation	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08		119513467	35757093	30	897											
SCNM1	79005	broad.mit.edu	37	1	151140660	151140660	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr1:151140660C>T	ENST00000368905.4	+	6	550	c.439C>T	c.(439-441)Cca>Tca	p.P147S	LYSMD1_ENST00000368908.5_5'Flank|LYSMD1_ENST00000440902.2_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	147					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.P147S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCCCCTATGCCACCCTCAGA	0.552																																						ENST00000368905.4											1	Substitution - Missense(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(439-441)Cca>Tca	sodium channel modifier 1						222	235	230					1																	151140660		2203	4300	6503	SO:0001583	missense	79005			mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	g.chr1:151140660C>T	BC000264	BC000264	CCDS987.1, CCDS55636.1	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			2012-03-13			ENSG00000163156	ENSG00000163156	ENSG00000163156	ENSG00000163156				23136	23136	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608095	608095						12920299	12920299	Standard	Standard	NM_024041	NM_024041		Approved	MGC3180	uc001ewz.3	uc001ewz.3	Q9BWG6	Q9BWG6	OTTHUMG00000012258	OTTHUMG00000012258	ENST00000368905.4:c.439C>T	1.37:g.151140660C>T	ENSP00000357901:p.Pro147Ser			p.P147S	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	550	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		147		B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	c.439C>T	CCDS987.1	.	.	.	.	.	.	.	.	.	.	C	4.228	0.041268	0.08196	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	5.5	3.52	0.40303	5.5	3.52	0.40303	.	0.423784	0.23840	N	0.044056	T	0.09335	0.0230	N	0.19112	0.55	0.09310	N	1	B	0.29162	0.235	B	0.37304	0.246	T	0.28138	-1.0053	9	0.15066	T	0.55	0.1285	6.1395	0.20251	0.1964:0.7104:0.0:0.0932	.	147	Q9BWG6	SCNM1_HUMAN	S	147;112	.	ENSP00000357898:P112S	P	+	1	0	0	SCNM1	149407284	149407284	0.000000	0.05858	0.798000	0.32154	0.005000	0.04900	-0.052000	0.11865	1.557000	0.49525	-0.140000	0.14226	CCA		0.552	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2		-58.225841	6	6	338	338	NM_024041		4	6.360435	6.360435	240	0.016393	0	0	0	1	0	4	240	0.016393	T	151140660	C	T	151140660	3	4	48	1	0	0	0	0	1	0	0	0	13926	739	26	2	461	2	SCNM1	1	151140660	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08		151140660	98109961	1	898											
ODC1	4953	broad.mit.edu	37	2	10582209	10582209	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr2:10582209G>A	ENST00000234111.4	-	9	1352	c.842C>T	c.(841-843)gCa>gTa	p.A281V	ODC1_ENST00000405333.1_Missense_Mutation_p.A281V|ODC1_ENST00000446285.1_5'Flank	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	281					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	GAAAGCTGATGCAACATAGTA	0.438																																						ENST00000234111.4											0			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(841-843)gCa>gTa	ornithine decarboxylase 1						94	92	92					2																	10582209		2203	4300	6503	SO:0001583	missense	4953			polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582209G>A			CCDS1672.1	CCDS1672.1	2p25	2012-10-02			2012-10-02			ENSG00000115758	ENSG00000115758	ENSG00000115758	ENSG00000115758	4.1.1.17			8109	8109	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			165640	165640								Standard	Standard	NM_002539	NM_002539		Approved	ODC	uc002rao.1	uc002rao.1	P11926	P11926	OTTHUMG00000090450	OTTHUMG00000090450	ENST00000234111.4:c.842C>T	2.37:g.10582209G>A	ENSP00000234111:p.Ala281Val		ODC1_ENST00000405333.1_Missense_Mutation_p.A281V	p.A281V	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	9	1352	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		281		Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.842C>T	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691650	0.88735	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.54675	0.56;0.56	5.79	5.79	0.91817	5.79	5.79	0.91817	Orn/DAP/Arg decarboxylase 2, N-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.093658	0.64402	D	0.000001	T	0.63355	0.2504	M	0.85710	2.77	0.80722	D	1	P	0.49253	0.921	B	0.42319	0.383	T	0.72050	-0.4407	10	0.72032	D	0.01	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	281	P11926	DCOR_HUMAN	V	281;281;152	ENSP00000234111:A281V;ENSP00000385333:A281V	ENSP00000234111:A281V	A	-	2	0	0	ODC1	10499660	10499660	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	9.807000	0.99171	2.740000	0.93945	0.563000	0.77884	GCA		0.438	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2		6.978443	30	30	98	98			7	16.898406	16.898406	58	0.107692	0	0	0	1	0	7	58	0.107692	A	10582209	G	A	10582209	3	1	48	1	0	0	0	0	1	0	0	0	10825	1319	46	2	559	2	ODC1	2	10582209	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		10582209	232617164	2	899											
AFF3	3899	broad.mit.edu	37	2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr2:100210742C>T	ENST00000409236.2	-	13	1493	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000317233.4_Missense_Mutation_p.A461T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	461					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.A486T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTAGAGGATGCCGGTTCAGCC	0.443																																						ENST00000409236.2											1	Substitution - Missense(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1381-1383)Gca>Aca	AF4/FMR2 family, member 3						124	137	133					2																	100210742		2058	4218	6276	SO:0001583	missense	3899			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210742C>T	U34360	U34360	CCDS33258.1, CCDS42723.1	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218	ENSG00000144218	ENSG00000144218				6473	6473	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601464	601464	"lymphoid nuclear protein related to AF4"	LAF4	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	8662235, 8555498	Standard	Standard	XM_005263945	XM_005263945		Approved	MLLT2-like	uc002taf.3	uc002taf.3	P51826	P51826	OTTHUMG00000153011	OTTHUMG00000153011	ENST00000409236.2:c.1381G>A	2.37:g.100210742C>T	ENSP00000387207:p.Ala461Thr		AFF3_ENST00000317233.4_Missense_Mutation_p.A461T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T	p.A461T			P51826	AFF3_HUMAN			13	1493	-					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1381G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959682	0.53400	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.205024	0.35207	N	0.003365	T	0.72716	0.3495	L	0.51422	1.61	0.42120	D	0.991429	D;D;D	0.64830	0.994;0.959;0.976	D;P;P	0.66716	0.946;0.721;0.461	T	0.71692	-0.4516	10	0.45353	T	0.12	.	14.3946	0.67003	0.0:0.7418:0.2582:0.0	.	614;461;486	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	461;486;486;461;461;614;486	ENSP00000317421:A461T;ENSP00000348793:A486T;ENSP00000386834:A486T;ENSP00000387207:A461T	ENSP00000317421:A461T	A	-	1	0	0	AFF3	99577174	99577174	1.000000	0.71417	0.491000	0.27477	0.460000	0.32559	5.786000	0.69006	2.781000	0.95711	0.655000	0.94253	GCA		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		-29.571004	16	16	242	242	NM_002285		5	9.790046	9.790046	158	0.030675	0	0	0	1	0	5	158	0.030675	T	100210742	C	T	100210742	3	4	48	1	0	0	0	0	1	0	0	0	358	739	26	2	2343	2	AFF3	2	100210742	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08	89628533	100210742	142988631	3	900											
NFE2L2	4780	broad.mit.edu	37	2	178096252	178096252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr2:178096252G>T	ENST00000397062.3	-	5	1633	c.1079C>A	c.(1078-1080)tCa>tAa	p.S360*	NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.S337*|NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.S344*|NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.S344*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	360					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGATTCCACTGAGTGTTCTGG	0.473			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																												ENST00000397062.3		Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1078-1080)tCa>tAa	nuclear factor, erythroid 2-like 2						150	151	151					2																	178096252		2195	4298	6493	SO:0001587	stop_gained	4780			transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178096252G>T			CCDS42782.1, CCDS46457.1, CCDS46458.1	CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044	ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	"basic leucine zipper proteins"	7782	7782	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	"NF-E2-related factor 2"	600492	600492	"nuclear factor (erythroid-derived 2)-like 2"		"nuclear factor (erythroid-derived 2)-like 2"			7937919	7937919	Standard	Standard	NM_006164	NM_006164		Approved	NRF2	uc002ulh.5	uc002ulh.5	Q16236	Q16236	OTTHUMG00000133620	OTTHUMG00000133620	ENST00000397062.3:c.1079C>A	2.37:g.178096252G>T	ENSP00000380252:p.Ser360*		NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.S337*|NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.S344*|NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.S344*	p.S360*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	1633	-			360		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Nonsense_Mutation	SNP	ENST00000397062.3	37	c.1079C>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038483	0.75617	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	.	.	.	5.83	4.95	0.65309	5.83	4.95	0.65309	.	0.053330	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.514	14.3596	0.66761	0.0704:0.0:0.9296:0.0	.	.	.	.	X	344;360;337;88	.	ENSP00000380252:S360X	S	-	2	0	0	NFE2L2	177804498	177804498	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.098000	0.76974	2.763000	0.94921	0.563000	0.77884	TCA		0.473	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		25.781308	24	24	176	176	NM_006164		20	47.529257	47.529257	139	0.125786	1	0	1.50039e-11	1	1.61581e-11	20	139	0.125786	T	178096252	G	T	178096252	4	4	48	1	0	0	0	0	0	1	0	0	10368	1294	45	5	742	5	NFE2L2	2	178096252	Nonsense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08	77885510	178096252	65103121	4	901											
CLEC3B	7123	broad.mit.edu	37	3	45077259	45077259	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr3:45077259G>A	ENST00000296130.4	+	3	632	c.452G>A	c.(451-453)cGc>cAc	p.R151H	CLEC3B_ENST00000428034.1_Missense_Mutation_p.R109H|CLEC3B_ENST00000490386.1_3'UTR|RNU5B-3P_ENST00000516601.1_RNA	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	151	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	ACCGGCGCCCGCATCGCCTAC	0.662																																					GBM(139;1487 3263 30871)	ENST00000296130.4											0			endometrium(1)|lung(3)	4						c.(451-453)cGc>cAc	C-type lectin domain family 3, member B						39	40	40					3																	45077259		2203	4300	6503	SO:0001583	missense	7123			skeletal system development	extracellular space	protein binding|sugar binding	g.chr3:45077259G>A			CCDS2726.1	CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815	ENSG00000163815	ENSG00000163815		"C-type lectin domain containing"	"C-type lectin domain containing"	11891	11891	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			187520	187520	"tetranectin (plasminogen binding protein)"	TNA	"tetranectin (plasminogen binding protein)"	TNA				Standard	Standard	NM_003278	NM_003278		Approved	TN	uc003cok.4	uc003cok.4	P05452	P05452	OTTHUMG00000133087	OTTHUMG00000133087	ENST00000296130.4:c.452G>A	3.37:g.45077259G>A	ENSP00000296130:p.Arg151His		CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Missense_Mutation_p.R109H	p.R151H	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	3	632	+			151	C-type lectin.	Q6FGX6	Missense_Mutation	SNP	ENST00000296130.4	37	c.452G>A	CCDS2726.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252312	0.39797	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.19532	2.14;2.14	4.38	-8.39	0.00969	4.38	-8.39	0.00969	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.263610	0.05103	N	0.487531	T	0.17023	0.0409	L	0.57536	1.79	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33777	-0.9855	10	0.45353	T	0.12	-3.5296	5.8002	0.18410	0.1757:0.5041:0.2335:0.0867	.	151	P05452	TETN_HUMAN	H	151;109	ENSP00000296130:R151H;ENSP00000396013:R109H	ENSP00000296130:R151H	R	+	2	0	0	CLEC3B	45052263	45052263	0.000000	0.05858	0.001000	0.08648	0.967000	0.64934	-0.397000	0.07269	-1.412000	0.02030	0.561000	0.74099	CGC		0.662	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1		0.297600	11	11	62	62	NM_003278		3	6.649186	6.649186	33	0.083333	0	0	0	1	0	3	33	0.083333	A	45077259	G	A	45077259	3	1	48	1	0	0	0	0	1	0	0	0	3511	1087	38	1	462	1	CLEC3B	3	45077259	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		45077259	152945171	5	902											
HTR1E	3354	hgsc.bcm.edu	37	6	87725769	87725769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr6:87725769delA	ENST00000305344.5	+	2	1420	c.717delA	c.(715-717)acafs	p.T239fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	239					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GTAAACTTACACAGACTTTCT	0.478																																																	0																	141	145	144					6																	87725769		2203	4300	6503	SO:0001589	frameshift_variant	3354									CCDS5006.1	CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830	ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	5291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			182132	182132	"5-hydroxytryptamine (serotonin) receptor 1E"		"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	1608964	Standard	Standard	NM_000865	NM_000865		Approved	5-HT1E	uc003pli.3	uc003pli.3	P28566	P28566	OTTHUMG00000015154	OTTHUMG00000015154	ENST00000305344.5:c.717delA	6.37:g.87725769delA	ENSP00000307766:p.Thr239fs																	E1P503|Q9P1Y1	Frame_Shift_Del	DEL	ENST00000305344.5	37		CCDS5006.1																																																																																									0.478	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2			63	63	218	218	NM_000865		27			75							27	75		-	87725769	A	-	87725769	7	5	48	1	0	1	0	1	0	0	0	0	7439	146	6	0	719	0	HTR1E	6	87725769	Frame_Shift_Del	DEL	A	TCGA-VD-A8KJ-01A-11D-A39W-08		87725769	83389298	6	903	15	2									
HTR1E	3354	hgsc.bcm.edu	37	6	87725770	87725770	+	Missense_Mutation	SNP	C	C	G	rs573134579		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr6:87725770C>G	ENST00000305344.5	+	2	1421	c.718C>G	c.(718-720)Cag>Gag	p.Q240E		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	240					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TAAACTTACACAGACTTTCTG	0.478																																																	0																	142	146	145					6																	87725770		2203	4300	6503	SO:0001583	missense	3354									CCDS5006.1	CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830	ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	5291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			182132	182132	"5-hydroxytryptamine (serotonin) receptor 1E"		"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	1608964	Standard	Standard	NM_000865	NM_000865		Approved	5-HT1E	uc003pli.3	uc003pli.3	P28566	P28566	OTTHUMG00000015154	OTTHUMG00000015154	ENST00000305344.5:c.718C>G	6.37:g.87725770C>G	ENSP00000307766:p.Gln240Glu																	E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37		CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	1.647	-0.514938	0.04200	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.64618	-0.11;-0.11	4.39	4.39	0.52855	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.092832	0.44097	U	0.000488	T	0.19046	0.0457	N	0.04655	-0.195	0.36157	D	0.847847	B	0.11235	0.004	B	0.17098	0.017	T	0.15521	-1.0434	10	0.02654	T	1	.	16.925	0.86174	0.0:1.0:0.0:0.0	.	240	P28566	5HT1E_HUMAN	E	240	ENSP00000307766:Q240E;ENSP00000358597:Q240E	ENSP00000307766:Q240E	Q	+	1	0	0	HTR1E	87782489	87782489	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	3.043000	0.49823	2.004000	0.58718	0.205000	0.17691	CAG		0.478	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2			67	67	219	219	NM_000865		8			79							8	79		G	87725770	C	G	87725770	3	3	48	1	0	0	0	0	1	0	0	0	7439	479	17	5	720	5	HTR1E	6	87725770	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08	1	87725770	83389297	7	904	15	2									
UTRN	7402	broad.mit.edu	37	6	145095480	145095480	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr6:145095480G>A	ENST00000367545.3	+	59	8612	c.8612G>A	c.(8611-8613)aGa>aAa	p.R2871K	UTRN_ENST00000367526.4_Missense_Mutation_p.R426K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2871	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAAATCCGAAGACTACAAAAA	0.318																																						ENST00000367545.3											0			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8611-8613)aGa>aAa	utrophin						105	104	104					6																	145095480		2203	4300	6503	SO:0001583	missense	7402			muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145095480G>A	AK023675	AK023675	CCDS34547.1	CCDS34547.1	6q24	2008-02-05	2006-12-13		2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818	ENSG00000152818	ENSG00000152818				12635	12635	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			128240	128240	"utrophin (homologous to dystrophin)"	DMDL	"utrophin (homologous to dystrophin)"	DMDL		1426262	1426262	Standard	Standard	NM_007124	NM_007124		Approved	DRP, DRP1	uc003qkt.3	uc003qkt.3	P46939	P46939	OTTHUMG00000015746	OTTHUMG00000015746	ENST00000367545.3:c.8612G>A	6.37:g.145095480G>A	ENSP00000356515:p.Arg2871Lys		UTRN_ENST00000367526.4_Missense_Mutation_p.R426K	p.R2871K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	59	8612	+		Ovarian(120;0.218)	2871	Interaction with SYNM.	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.8612G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016344	0.93404	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.64618	-0.11;-0.11	5.93	5.93	0.95920	5.93	5.93	0.95920	EF-hand domain, type 1 (1);	0.000000	0.52532	D	0.000063	T	0.62696	0.2449	M	0.76838	2.35	0.35015	D	0.757282	B	0.23854	0.092	B	0.33620	0.167	T	0.65179	-0.6231	10	0.72032	D	0.01	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	2871	P46939	UTRO_HUMAN	K	2871;426	ENSP00000356515:R2871K;ENSP00000356496:R426K	ENSP00000356496:R426K	R	+	2	0	0	UTRN	145137173	145137173	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.984000	0.88150	2.826000	0.97356	0.655000	0.94253	AGA		0.318	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		103.401448	0	0	81	81			32	103.433392	103.433392	29	0.52459	0	0	0	1	0	32	29	0.52459	A	145095480	G	A	145095480	3	1	48	1	0	0	0	0	1	0	0	0	17100	942	33	3	8846	3	UTRN	6	145095480	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08	57369710	145095480	26019587	8	905											
SYTL3	94120	hgsc.bcm.edu	37	6	159129365	159129365	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr6:159129365T>C	ENST00000297239.9	+	7	652	c.458T>C	c.(457-459)gTg>gCg	p.V153A	SYTL3_ENST00000367081.3_Intron|SYTL3_ENST00000360448.3_Missense_Mutation_p.V153A			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	153					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AAAATTTCTGTGGTTCCTCCT	0.483																																																	0																	146	125	132					6																	159129365		2203	4300	6503	SO:0001583	missense	94120							AK055750	AK055750	CCDS34563.1, CCDS56458.1	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			2008-07-04			ENSG00000164674	ENSG00000164674	ENSG00000164674	ENSG00000164674				15587	15587	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11773082	11773082	Standard	Standard	NM_001242384	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	uc003qrp.3	Q4VX76	Q4VX76	OTTHUMG00000015916	OTTHUMG00000015916	ENST00000297239.9:c.458T>C	6.37:g.159129365T>C	ENSP00000297239:p.Val153Ala																	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37		CCDS56458.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015870	0.54468	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.20200	2.22;2.09	4.59	4.59	0.56863	4.59	4.59	0.56863	.	0.255560	0.31709	N	0.007186	T	0.27559	0.0677	M	0.81802	2.56	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.69142	0.872;0.962	T	0.36065	-0.9763	10	0.09843	T	0.71	.	10.3708	0.44053	0.0:0.0:0.0:1.0	.	153;153	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	A	153	ENSP00000353631:V153A;ENSP00000297239:V153A	ENSP00000297239:V153A	V	+	2	0	0	SYTL3	159049353	159049353	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.177000	0.58276	1.714000	0.51371	0.533000	0.62120	GTG		0.483	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			-16	-16	41	41			7			20							7	20		C	159129365	T	C	159129365	3	2	48	1	0	0	0	0	1	0	0	0	15481	1696	59	4	476	4	SYTL3	6	159129365	Missense_Mutation	SNP	T	TCGA-VD-A8KJ-01A-11D-A39W-08	14033885	159129365	11985702	9	906											
PKHD1L1	93035	broad.mit.edu	37	8	110456078	110456078	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr8:110456078G>A	ENST00000378402.5	+	37	4842	c.4738G>A	c.(4738-4740)Gaa>Aaa	p.E1580K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1580	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACAGTAAATGAACTAATAAC	0.328										HNSCC(38;0.096)																												ENST00000378402.5											0			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4738-4740)Gaa>Aaa	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						106	103	104					8																	110456078		1821	4075	5896	SO:0001583	missense	93035			immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110456078G>A	AY219181	AY219181	CCDS47911.1	CCDS47911.1	8q23	2003-03-28			2003-03-28			ENSG00000205038	ENSG00000205038	ENSG00000205038	ENSG00000205038				20313	20313	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607843	607843						12620974	12620974	Standard	Standard	NM_177531	NM_177531		Approved		uc003yne.3	uc003yne.3	Q86WI1	Q86WI1	OTTHUMG00000164934	OTTHUMG00000164934	ENST00000378402.5:c.4738G>A	8.37:g.110456078G>A	ENSP00000367655:p.Glu1580Lys			p.E1580K	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		37	4842	+			1580	IPT/TIG 8.	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4738G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788446	0.70337	.	.	ENSG00000205038	ENST00000378402	T	0.76709	-1.04	5.77	5.77	0.91146	5.77	5.77	0.91146	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.206516	0.41396	D	0.000892	T	0.81230	0.4779	M	0.65975	2.015	0.34312	D	0.685574	P	0.39624	0.681	P	0.45232	0.474	D	0.85126	0.0972	10	0.40728	T	0.16	.	17.8364	0.88699	0.0:0.0:1.0:0.0	.	1580	Q86WI1	PKHL1_HUMAN	K	1580	ENSP00000367655:E1580K	ENSP00000367655:E1580K	E	+	1	0	0	PKHD1L1	110525254	110525254	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	5.985000	0.70556	2.884000	0.98904	0.655000	0.94253	GAA		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		1.155397	-23	-23	83	83	NM_177531		7	15.980304	15.980304	77	0.083333	0	0	0	1	0	7	77	0.083333	A	110456078	G	A	110456078	3	1	48	1	0	0	0	0	1	0	0	0	11972	1291	45	3	4884	3	PKHD1L1	8	110456078	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		110456078	35907944	10	907											
STK33	65975	broad.mit.edu	37	11	8435082	8435082	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr11:8435082G>C	ENST00000447869.1	-	11	2222	c.1304C>G	c.(1303-1305)cCt>cGt	p.P435R	STK33_ENST00000473980.1_5'UTR|STK33_ENST00000315204.1_Missense_Mutation_p.P435R|STK33_ENST00000396673.1_Intron|STK33_ENST00000396672.1_Missense_Mutation_p.P435R|STK33_ENST00000534493.1_Missense_Mutation_p.P394R|STK33_ENST00000358872.3_Missense_Mutation_p.P248R			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	435					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ATTGGCATCAGGGACATTTCC	0.418																																						ENST00000447869.1											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(1303-1305)cCt>cGt	serine/threonine kinase 33						288	264	272					11																	8435082		2201	4296	6497	SO:0001583	missense	65975				Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8435082G>C	AJ303380	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			2010-03-10			ENSG00000130413	ENSG00000130413	ENSG00000130413	ENSG00000130413				14568	14568	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607670	607670						11738831	11738831	Standard	Standard	NM_030906	NM_030906		Approved		uc001mgj.1	uc001mgj.1	Q9BYT3	Q9BYT3	OTTHUMG00000140275	OTTHUMG00000140275	ENST00000447869.1:c.1304C>G	11.37:g.8435082G>C	ENSP00000416750:p.Pro435Arg		STK33_ENST00000396673.1_Intron|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.P394R|STK33_ENST00000315204.1_Missense_Mutation_p.P435R|STK33_ENST00000396672.1_Missense_Mutation_p.P435R|STK33_ENST00000358872.3_Missense_Mutation_p.P248R	p.P435R			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	11	2222	-			435		Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.1304C>G	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.367991	0.01225	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000534493	T;T;T;T;T	0.70399	-0.42;-0.42;-0.42;-0.48;-0.42	4.36	-4.73	0.03259	4.36	-4.73	0.03259	Protein kinase-like domain (1);	4.285410	0.00166	N	0.000013	T	0.48786	0.1519	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	10	0.11182	T	0.66	.	7.2625	0.26212	0.0:0.2395:0.5073:0.2533	.	435	Q9BYT3	STK33_HUMAN	R	435;435;435;248;394	ENSP00000416750:P435R;ENSP00000320754:P435R;ENSP00000379905:P435R;ENSP00000351743:P248R;ENSP00000436418:P394R	ENSP00000320754:P435R	P	-	2	0	0	STK33	8391658	8391658	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.796000	0.04575	-1.536000	0.01738	-0.968000	0.02614	CCT		0.418	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2		135.535750	75	75	237	237	NM_030906		45	137.382859	137.382859	77	0.368852	0	0	0	1	0	45	77	0.368852	C	8435082	G	C	8435082	3	2	48	1	0	0	0	0	1	0	0	0	15299	1000	35	5	248	5	STK33	11	8435082	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		8435082	126571434	11	908											
POTEM	641455	broad.mit.edu	37	14	20019998	20019998	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr14:20019998T>C	ENST00000551509.1	-	1	274	c.223A>G	c.(223-225)Agc>Ggc	p.S75G		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	75										endometrium(4)|kidney(1)|lung(4)	9						CTCTTGCCGCTCCCCCTGCAC	0.587																																						ENST00000551509.1											0			endometrium(4)|kidney(1)|lung(4)	9						c.(223-225)Agc>Ggc	POTE ankyrin domain family, member M						11	21	19					14																	20019998		316	1135	1451	SO:0001583	missense	641455						g.chr14:20019998T>C			CCDS73609.1	CCDS73609.1	14q11.2	2013-01-10			2013-01-10			ENSG00000187537	ENSG00000187537	ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	37096	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"prostate-specific P704P"	"prostate-specific P704P"								16364570	16364570	Standard	Standard	NM_001145442	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	uc001vwc.3	A6NI47	A6NI47			ENST00000551509.1:c.223A>G	14.37:g.20019998T>C	ENSP00000452296:p.Ser75Gly			p.S75G	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	274	-			75			Missense_Mutation	SNP	ENST00000551509.1	37	c.223A>G	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	t	3.158	-0.172651	0.06421	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.33438	1.41	.	.	.	.	.	.	.	.	.	.	.	T	0.25606	0.0623	L	0.61218	1.895	0.09310	N	1	B	0.27791	0.189	B	0.29785	0.107	T	0.28459	-1.0043	6	.	.	.	.	.	.	.	.	75	A6NI47	POTEM_HUMAN	G	75	ENSP00000452296:S75G	.	S	-	1	0	0	POTEM	19089998	19089998	0.001000	0.12720	0.005000	0.12908	0.137000	0.21094	0.985000	0.29578	-0.760000	0.04677	0.128000	0.15822	AGC		0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3		-136.507564	362	362	806	806	NM_001145442		6	8.340986	8.340986	523	0.011342	0	0	0	1	0	6	523	0.011342	C	20019998	T	C	20019998	3	2	48	1	0	0	0	0	1	0	0	0	12268	1551	54	4	1343	4	POTEM	14	20019998	Missense_Mutation	SNP	T	TCGA-VD-A8KJ-01A-11D-A39W-08		20019998	87329542	12	909											
UMOD	7369	broad.mit.edu	37	16	20357567	20357567	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr16:20357567C>T	ENST00000570689.1	-	5	1209	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	UMOD_ENST00000396142.2_Missense_Mutation_p.D355N|UMOD_ENST00000396138.4_Missense_Mutation_p.D404N|UMOD_ENST00000424589.1_Missense_Mutation_p.D388N|UMOD_ENST00000396134.2_Missense_Mutation_p.D388N|UMOD_ENST00000302509.4_Missense_Mutation_p.D355N			P07911	UROM_HUMAN	uromodulin	355	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AAGACCTTGTCGAAGCCCAGA	0.582																																						ENST00000396134.2											0			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1162-1164)Gac>Aac	uromodulin						85	78	81					16																	20357567		2203	4300	6503	SO:0001583	missense	7369			cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20357567C>T	M17778	M17778	CCDS10583.1, CCDS61876.1	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344	ENSG00000169344	ENSG00000169344				12559	12559	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"		"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	8382593	Standard	Standard	NM_003361	NM_003361		Approved		uc002dha.3	uc002dha.3	P07911	P07911	OTTHUMG00000131488	OTTHUMG00000131488	ENST00000570689.1:c.1063G>A	16.37:g.20357567C>T	ENSP00000460548:p.Asp355Asn		UMOD_ENST00000302509.4_Missense_Mutation_p.D355N|UMOD_ENST00000570689.1_Missense_Mutation_p.D355N|UMOD_ENST00000396138.4_Missense_Mutation_p.D404N|UMOD_ENST00000424589.1_Missense_Mutation_p.D388N|UMOD_ENST00000396142.2_Missense_Mutation_p.D355N	p.D388N	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			6	1285	-			355	ZP.	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1162G>A	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	c	13.04	2.119808	0.37436	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	4.67	1.02	0.19986	4.67	1.02	0.19986	Zona pellucida sperm-binding protein (3);	0.472674	0.17937	N	0.156969	T	0.62816	0.2459	N	0.12746	0.255	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.19946	0.006;0.027	T	0.47459	-0.9116	10	0.27082	T	0.32	-10.3565	3.8168	0.08818	0.0:0.3225:0.3999:0.2775	.	388;355	E9PEA4;P07911	.;UROM_HUMAN	N	355;388;388;355;333;355	ENSP00000379438:D388N;ENSP00000416346:D388N;ENSP00000306279:D355N;ENSP00000379446:D355N	ENSP00000306279:D355N	D	-	1	0	0	UMOD	20265068	20265068	0.001000	0.12720	0.967000	0.41034	0.886000	0.51366	-0.016000	0.12613	0.240000	0.21263	0.306000	0.20318	GAC		0.582	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		88.202664	8	8	91	91			29	88.319302	88.319302	35	0.453125	0	0	0	1	0	29	35	0.453125	T	20357567	C	T	20357567	3	4	48	1	0	0	0	0	1	0	0	0	16976	884	31	1	887	1	UMOD	16	20357567	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08		20357567	69997186	13	910											
ABR	29	broad.mit.edu	37	17	915998	915998	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr17:915998T>C	ENST00000302538.5	-	18	2037	c.1891A>G	c.(1891-1893)Atg>Gtg	p.M631V	ABR_ENST00000543210.2_Missense_Mutation_p.M82V|ABR_ENST00000536794.2_Missense_Mutation_p.M413V|ABR_ENST00000544583.2_Missense_Mutation_p.M585V|ABR_ENST00000572441.1_Missense_Mutation_p.M82V|ABR_ENST00000291107.2_Missense_Mutation_p.M594V|ABR_ENST00000574437.1_Missense_Mutation_p.M585V	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	631					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TTCAGGCTCATATCTCGGCTG	0.567																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1753-1755)Atg>Gtg	active BCR-related						66	61	63					17																	915998		2197	4293	6490	SO:0001583	missense	29			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:915998T>C	L19704	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842	ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	81	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600365	600365	"active BCR-related gene"		"active BCR-related gene"			2587217, 7479768	2587217, 7479768	Standard	Standard	NM_001092	NM_001092		Approved	MDB	uc002fsd.4	uc002fsd.4	Q12979	Q12979	OTTHUMG00000090313	OTTHUMG00000090313	ENST00000302538.5:c.1891A>G	17.37:g.915998T>C	ENSP00000303909:p.Met631Val		ABR_ENST00000574437.1_Missense_Mutation_p.M585V|ABR_ENST00000572441.1_Missense_Mutation_p.M82V|ABR_ENST00000543210.2_Missense_Mutation_p.M82V|ABR_ENST00000536794.2_Missense_Mutation_p.M413V|ABR_ENST00000291107.2_Missense_Mutation_p.M594V|ABR_ENST00000302538.5_Missense_Mutation_p.M631V	p.M585V	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	18	2352	-			631	C2.	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.1753A>G	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	T	6.045	0.376726	0.11466	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.16743	2.37;2.35;2.32;3.56;3.16	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.107865	0.64402	D	0.000003	T	0.09024	0.0223	N	0.08118	0	0.31018	N	0.71842	B;B;B;B	0.17268	0.004;0.021;0.004;0.004	B;B;B;B	0.14578	0.011;0.01;0.006;0.011	T	0.14587	-1.0467	10	0.12103	T	0.63	.	13.6467	0.62286	0.0:0.0:0.0:1.0	.	413;82;594;631	B7Z683;F5H3S2;Q12979-2;Q12979	.;.;.;ABR_HUMAN	V	631;585;594;413;82	ENSP00000303909:M631V;ENSP00000442048:M585V;ENSP00000291107:M594V;ENSP00000437429:M413V;ENSP00000445198:M82V	ENSP00000291107:M594V	M	-	1	0	0	ABR	862748	862748	0.991000	0.36638	0.993000	0.49108	0.971000	0.66376	1.659000	0.37387	2.247000	0.74100	0.477000	0.44152	ATG		0.567	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		13.101552	0	0	13	13			4	13.249042	13.249042	2	0.666667	0	0	0	1	0	4	2	0.666667	C	915998	T	C	915998	3	2	48	1	0	0	0	0	1	0	0	0	99	1406	49	4	712	4	ABR	17	915998	Missense_Mutation	SNP	T	TCGA-VD-A8KJ-01A-11D-A39W-08		915998	80279212	14	911											
MBP	4155	broad.mit.edu	37	18	74729169	74729169	+	Silent	SNP	A	A	C	rs144597580		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr18:74729169A>C	ENST00000397860.3	-	4	409	c.195T>G	c.(193-195)acT>acG	p.T65T	MBP_ENST00000382582.3_5'Flank|MBP_ENST00000359645.3_5'Flank|MBP_ENST00000580402.1_Silent_p.T65T|MBP_ENST00000397865.5_5'Flank|MBP_ENST00000527041.1_5'Flank|MBP_ENST00000397869.3_5'Flank|MBP_ENST00000528160.1_5'Flank|MBP_ENST00000397866.4_5'Flank|MBP_ENST00000354542.4_5'UTR|MBP_ENST00000579129.1_Silent_p.T65T|MBP_ENST00000578193.1_5'Flank|MBP_ENST00000526111.1_5'Flank|MBP_ENST00000397863.1_Silent_p.T65T|MBP_ENST00000355994.2_Silent_p.T65T|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000397875.3_5'Flank	NM_001025100.1	NP_001020271.1	P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GCTTGGAGTCAGTCACCGCTG	0.582																																					NSCLC(17;72 1131 19392)	ENST00000397860.3											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(193-195)acT>acG	myelin basic protein						71	71	71					18																	74729169		2203	4300	6503	SO:0001819	synonymous_variant	4155			central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74729169A>C			CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			2008-08-01			ENSG00000197971	ENSG00000197971	ENSG00000197971	ENSG00000197971				6925	6925	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			159430	159430						2425357	2425357	Standard	Standard	XM_005266699	XM_005266699		Approved		uc010xfd.2	uc010xfd.2	P02686	P02686	OTTHUMG00000132874	OTTHUMG00000132874	ENST00000397860.3:c.195T>G	18.37:g.74729169A>C			MBP_ENST00000580402.1_Silent_p.T65T|MBP_ENST00000354542.4_5'UTR|MBP_ENST00000397863.1_Silent_p.T65T|MBP_ENST00000355994.2_Silent_p.T65T|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000579129.1_Silent_p.T65T	p.T65T	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	4	409	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	65		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000397860.3	37	c.195T>G	CCDS42450.1																																																																																									0.582	MBP-005	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267945.1		35.269307	0	0	65	65	NM_001025081		13	35.878548	35.878548	23	0.361111	0	0	0	1	0	13	23	0.361111	C	74729169	A	C	74729169	2	2	48	1	0	0	0	0	0	0	0	1	9359	175	7	5		5	MBP	18	74729169	Silent	SNP	A	TCGA-VD-A8KJ-01A-11D-A39W-08		74729169	3348079	15	912											
NFIC	4782	broad.mit.edu	37	19	3382229	3382229	+	Missense_Mutation	SNP	G	G	C	rs201510675	byFrequency	TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr19:3382229G>C	ENST00000443272.2	+	2	601	c.550G>C	c.(550-552)Gtg>Ctg	p.V184L	NFIC_ENST00000395111.3_Missense_Mutation_p.V175L|NFIC_ENST00000590282.1_Missense_Mutation_p.V184L|NFIC_ENST00000341919.3_Missense_Mutation_p.V184L|NFIC_ENST00000586919.1_Missense_Mutation_p.V175L|NFIC_ENST00000589123.1_Missense_Mutation_p.V175L|NFIC_ENST00000346156.5_Missense_Mutation_p.V175L	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	184					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGCCTACTTCGTGCGTGAGCG	0.687																																						ENST00000589123.1											0			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(523-525)Gtg>Ctg	nuclear factor I/C (CCAAT-binding transcription factor)	G	LEU/VAL,LEU/VAL	0,4362		0,0,2181	50	47	48		550,523	1.4	1	19		48	3,8487		0,3,4242	no	missense,missense	NFIC	NM_005597.2,NM_205843.1	32,32	0,3,6423	CC,CG,GG		0.0353,0.0,0.0233	benign,benign	184/429,175/500	3382229	3,12849	2181	4245	6426	SO:0001583	missense	4782			DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3382229G>C	X12492	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05			2008-02-05				ENSG00000141905		ENSG00000141905				7786	7786	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600729	600729		NFI		NFI		3398920, 7590749	3398920, 7590749	Standard	Standard	NM_205843	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	uc010xhi.2	P08651	P08651			ENST00000443272.2:c.550G>C	19.37:g.3382229G>C	ENSP00000396843:p.Val184Leu		NFIC_ENST00000346156.5_Missense_Mutation_p.V175L|NFIC_ENST00000395111.3_Missense_Mutation_p.V175L|NFIC_ENST00000590282.1_Missense_Mutation_p.V184L|NFIC_ENST00000341919.3_Missense_Mutation_p.V184L|NFIC_ENST00000586919.1_Missense_Mutation_p.V175L|NFIC_ENST00000443272.2_Missense_Mutation_p.V184L	p.V175L	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	643	+		Hepatocellular(1079;0.137)	184		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.523G>C	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941260	0.34283	0.0	3.53E-4	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.53640	0.61;0.79;0.61	4.05	1.44	0.22558	4.05	1.44	0.22558	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.165621	0.39759	N	0.001269	T	0.37376	0.1001	L	0.54323	1.7	0.44254	D	0.997104	B;B;P;B;B	0.36199	0.132;0.036;0.543;0.401;0.068	B;B;B;B;B	0.35240	0.062;0.011;0.198;0.198;0.046	T	0.20840	-1.0263	10	0.51188	T	0.08	-20.0143	6.4113	0.21692	0.3859:0.0:0.6141:0.0	.	184;184;175;184;175	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	L	175;175;175;184;184;184	ENSP00000378543:V175L;ENSP00000301935:V175L;ENSP00000342194:V184L	ENSP00000269778:V184L	V	+	1	0	0	NFIC	3333229	3333229	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.798000	0.62510	0.824000	0.34613	-0.229000	0.12294	GTG		0.687	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1		77.966312	-24	-24	66	66	NM_005597		25	78.119885	78.119885	31	0.446429	0	0	0	1	0	25	31	0.446429	C	3382229	G	C	3382229	3	2	48	1	0	0	0	0	1	0	0	0	10372	1145	40	5	563	5	NFIC	19	3382229	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		3382229	55746754	16	913											
RGL3	57139	broad.mit.edu	37	19	11517462	11517462	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr19:11517462T>G	ENST00000380456.3	-	6	779	c.716A>C	c.(715-717)cAa>cCa	p.Q239P	RGL3_ENST00000393423.3_Missense_Mutation_p.Q239P|Y_RNA_ENST00000365487.1_RNA	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	239					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTGGGGACCTTGAGGCATGAG	0.587																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3											0			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(715-717)cAa>cCa	ral guanine nucleotide dissociation stimulator-like 3						58	53	55					19																	11517462		2203	4300	6503	SO:0001583	missense	57139			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11517462T>G	BC014426	BC014426	CCDS32910.1, CCDS54221.1	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05			2008-02-05				ENSG00000205517		ENSG00000205517				30282	30282	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10869344	10869344	Standard	Standard	NM_001035223	NM_001035223		Approved	FLJ32585	uc002mro.2	uc002mro.2	Q3MIN7	Q3MIN7			ENST00000380456.3:c.716A>C	19.37:g.11517462T>G	ENSP00000369823:p.Gln239Pro		RGL3_ENST00000393423.3_Missense_Mutation_p.Q239P	p.Q239P	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			6	779	-			239		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.716A>C	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	T	9.994	1.231488	0.22626	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.41065	1.15;1.01	4.08	4.08	0.47627	4.08	4.08	0.47627	Ras guanine nucleotide exchange factor, domain (1);	0.561985	0.17642	N	0.167003	T	0.23133	0.0559	N	0.12182	0.205	0.28997	N	0.887721	P;P;P;B	0.44195	0.46;0.828;0.46;0.289	B;B;B;B	0.37346	0.247;0.221;0.247;0.062	T	0.08806	-1.0704	10	0.59425	D	0.04	.	9.3589	0.38184	0.0:0.0:0.0:1.0	.	239;239;239;36	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	P	36;239;239	ENSP00000377075:Q239P;ENSP00000369823:Q239P	ENSP00000344665:Q36P	Q	-	2	0	0	RGL3	11378462	11378462	0.045000	0.20229	0.668000	0.29813	0.011000	0.07611	1.052000	0.30429	1.707000	0.51288	0.482000	0.46254	CAA		0.587	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3		14.633879	5	5	52	52	XM_290867		6	16.942661	16.942661	23	0.206897	0	0	0	1	0	6	23	0.206897	G	11517462	T	G	11517462	3	3	48	1	0	0	0	0	1	0	0	0	13278	1812	63	5	1490	5	RGL3	19	11517462	Missense_Mutation	SNP	T	TCGA-VD-A8KJ-01A-11D-A39W-08	8135233	11517462	47611521	17	914											
CPAMD8	27151	broad.mit.edu	37	19	17025480	17025480	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr19:17025480T>C	ENST00000443236.1	-	28	3945	c.3914A>G	c.(3913-3915)aAc>aGc	p.N1305S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1258						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GATGTCCTTGTTCAGGACCCT	0.657																																						ENST00000443236.1											0			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3913-3915)aAc>aGc	C3 and PZP-like, alpha-2-macroglobulin domain containing 8						28	32	31					19																	17025480		1984	4169	6153	SO:0001583	missense	27151				extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17025480T>C	AY101765	AY101765	CCDS42519.1	CCDS42519.1	19p13.12	2008-02-05			2008-02-05			ENSG00000160111	ENSG00000160111	ENSG00000160111	ENSG00000160111				23228	23228	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608841	608841						10574462	10574462	Standard	Standard	NM_015692	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	uc002nfb.3	Q8IZJ3	Q8IZJ3	OTTHUMG00000133549	OTTHUMG00000133549	ENST00000443236.1:c.3914A>G	19.37:g.17025480T>C	ENSP00000402505:p.Asn1305Ser			p.N1305S	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			28	3945	-			1258		Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.3914A>G	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.48|15.48	2.846552|2.846552	0.51164|0.51164	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.93|2.93	2.93|2.93	0.34026|0.34026	2.93|2.93	2.93|2.93	0.34026|0.34026	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.58722|0.58722	0.2142|0.2142	L|L	0.49778|0.49778	1.585|1.585	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.55055|0.55055	-0.8200|-0.8200	9|5	0.44086|.	T|.	0.13|.	.|.	11.0345|11.0345	0.47793|0.47793	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1258|.	Q8IZJ3|.	CPMD8_HUMAN|.	S|A	1305|1316	.|.	ENSP00000291440:N1305S|.	N|T	-|-	2|1	0|0	0|0	CPAMD8|CPAMD8	16886480|16886480	16886480|16886480	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.925000|0.925000	0.55904|0.55904	6.461000|6.461000	0.73522|0.73522	0.993000|0.993000	0.38866|0.38866	0.454000|0.454000	0.30748|0.30748	AAC|ACA		0.657	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2		4.006278	5	5	35	35	NM_015692		3	7.79419	7.79419	23	0.115385	0	0	0	1	0	3	23	0.115385	C	17025480	T	C	17025480	3	2	48	1	0	0	0	0	1	0	0	0	3795	1725	60	4	1944	4	CPAMD8	19	17025480	Missense_Mutation	SNP	T	TCGA-VD-A8KJ-01A-11D-A39W-08	5508018	17025480	42103503	18	915											
PRR19	284338	broad.mit.edu	37	19	42814091	42814091	+	Missense_Mutation	SNP	C	C	T	rs139508954	byFrequency	TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr19:42814091C>T	ENST00000499536.2	+	1	1166	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PRR19_ENST00000341747.3_Missense_Mutation_p.R119W|PRR19_ENST00000598490.1_Missense_Mutation_p.R119W			A6NJB7	PRR19_HUMAN	proline rich 19	119										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				ACCAGCCCCACGGTCCAGGGA	0.677																																						ENST00000499536.2											0			NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(355-357)Cgg>Tgg	proline rich 19	C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	34	44	41		355	3.4	0	19	dbSNP_134	41	0,8600		0,0,4300	no	missense	PRR19	NM_199285.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	119/357	42814091	2,13004	2203	4300	6503	SO:0001583	missense	284338						g.chr19:42814091C>T	AK124116	AK124116	CCDS33036.1	CCDS33036.1	19q13.2	2007-12-17			2007-12-17				ENSG00000188368		ENSG00000188368				33728	33728	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_199285	NM_199285		Approved	MGC70924	uc002oti.3	uc002oti.3	A6NJB7	A6NJB7			ENST00000499536.2:c.355C>T	19.37:g.42814091C>T	ENSP00000445247:p.Arg119Trp		PRR19_ENST00000598490.1_Missense_Mutation_p.R119W|PRR19_ENST00000341747.3_Missense_Mutation_p.R119W	p.R119W			A6NJB7	PRR19_HUMAN			1	1166	+		Prostate(69;0.00682)	119		A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	c.355C>T	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	C	5.945	0.358429	0.11239	4.54E-4	0.0	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.46	3.39	0.38822	4.46	3.39	0.38822	.	0.000000	0.36200	N	0.002730	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	P;P	0.51653	0.947;0.947	B;B	0.40101	0.319;0.237	T	0.07770	-1.0755	9	0.62326	D	0.03	-15.1264	10.4465	0.44497	0.0:0.8023:0.1977:0.0	.	119;119	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	W	119	.	ENSP00000342709:R119W	R	+	1	2	2	PRR19	47505931	47505931	0.003000	0.15002	0.002000	0.10522	0.004000	0.04260	0.830000	0.27462	1.183000	0.42943	0.561000	0.74099	CGG		0.677	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1		55.376077	-2	-2	47	47	NM_199285		17	55.376077	55.376077	17	0.5	0	0	0	1	0	17	17	0.5	T	42814091	C	T	42814091	3	4	48	1	0	0	0	0	1	0	0	0	12591	527	19	1	357	1	PRR19	19	42814091	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08	25788611	42814091	16314892	19	916											
IGLL1	3543	broad.mit.edu	37	22	23922214	23922214	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	g.chr22:23922214delG	ENST00000330377.2	-	1	281	c.164delC	c.(163-165)cctfs	p.P55fs	IGLL1_ENST00000249053.3_Frame_Shift_Del_p.P55fs|KB-208E9.1_ENST00000608615.1_lincRNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	55					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCTTCCTCCAGGGGCTCCAGG	0.692																																						ENST00000330377.2											0			kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(163-165)cctfs	immunoglobulin lambda-like polypeptide 1						5	6	6					22																	23922214		2042	4079	6121	SO:0001589	frameshift_variant	3543			immune response	extracellular region|membrane		g.chr22:23922214delG	X52204	X52204	CCDS13809.1, CCDS13810.1	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			2014-09-17			ENSG00000128322	ENSG00000128322	ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	5870	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			146770	146770		IGLL		IGLL		3139558, 2511029	3139558, 2511029	Standard	Standard	NM_020070	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	uc002zxd.3	P15814	P15814	OTTHUMG00000150673	OTTHUMG00000150673	ENST00000330377.2:c.164delC	22.37:g.23922214delG	ENSP00000329312:p.Pro55fs		IGLL1_ENST00000249053.3_Frame_Shift_Del_p.P55fs	p.P55fs	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			1	281	-			55		Q0P681	Frame_Shift_Del	DEL	ENST00000330377.2	37	c.164delC	CCDS13809.1																																																																																									0.692	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	.	.	4	4	9	9	NM_020070		2			4	0.33						2	4	0.33	-	23922214	G	-	23922214	7	5	48	1	0	1	0	1	0	0	0	0	7593	1000	35	0	489	0	IGLL1	22	23922214	Frame_Shift_Del	DEL	G	TCGA-VD-A8KJ-01A-11D-A39W-08		23922214	27382352	20	917											
FCRL1	115350	broad.mit.edu	37	1	157771734	157771734	+	Missense_Mutation	SNP	C	C	T	rs551893022		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr1:157771734C>T	ENST00000368176.3	-	5	924	c.857G>A	c.(856-858)cGc>cAc	p.R286H	FCRL1_ENST00000491942.1_Missense_Mutation_p.R286H|FCRL1_ENST00000358292.3_Missense_Mutation_p.R286H|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	286	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGCCTCACTGCGCTGGGCCCC	0.562																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3											0			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(856-858)cGc>cAc	Fc receptor-like 1						79	84	82					1																	157771734		2203	4300	6503	SO:0001583	missense	115350				integral to membrane|plasma membrane	receptor activity	g.chr1:157771734C>T	BC033690	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			2013-01-14			ENSG00000163534	ENSG00000163534	ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	18509	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606508	606508						11493702, 11929751	11493702, 11929751	Standard	Standard	NM_052938	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	uc001frg.3	Q96LA6	Q96LA6	OTTHUMG00000019398	OTTHUMG00000019398	ENST00000368176.3:c.857G>A	1.37:g.157771734C>T	ENSP00000357158:p.Arg286His		FCRL1_ENST00000491942.1_Missense_Mutation_p.R286H|FCRL1_ENST00000368176.3_Missense_Mutation_p.R286H|FCRL1_ENST00000489998.1_5'UTR	p.R286H	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	908	-	all_hematologic(112;0.0378)		286	Ig-like C2-type 3.	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.857G>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	3.010	-0.204159	0.06180	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03496	3.91;3.91;3.91	5.1	-5.03	0.02973	5.1	-5.03	0.02973	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.308130	0.04796	N	0.432487	T	0.00967	0.0032	L	0.39514	1.22	0.09310	N	1	B;B;B	0.28291	0.206;0.055;0.086	B;B;B	0.24269	0.052;0.048;0.004	T	0.45948	-0.9226	10	0.25106	T	0.35	.	7.2503	0.26146	0.1309:0.2382:0.0:0.6308	.	286;286;286	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	H	286	ENSP00000351039:R286H;ENSP00000357158:R286H;ENSP00000418130:R286H	ENSP00000351039:R286H	R	-	2	0	0	FCRL1	156038358	156038358	0.103000	0.21917	0.007000	0.13788	0.266000	0.26442	-1.013000	0.03645	-0.683000	0.05190	-0.781000	0.03364	CGC		0.562	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1		115.364445	-41	-41	67	67	NM_052938		37	115.623669	115.623669	47	0.440476	0	0	0	1	0	37	47	0.440476	T	157771734	C	T	157771734	3	4	49	1	0	0	0	0	1	0	0	0	5794	768	27	1	526	1	FCRL1	1	157771734	Missense_Mutation	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08		157771734	91478887	1	918											
BAP1	51533	broad.mit.edu	37	3	52441977	52441978	+	5'Flank	DEL	AG	AG	-			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr3:52441977_52441978delAG	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Frame_Shift_Del_p.P124fs|BAP1_ENST00000296288.5_Frame_Shift_Del_p.P124fs	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.F118fs*1(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGCCTACCTCAGGGCTGAAACC	0.564																																						ENST00000460680.1											1	Deletion - Frameshift(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(370-372)cctfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001631	upstream_gene_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52441977_52441978delAG	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"Zinc fingers, PHD-type"		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3:g.52441977_52441978delAG	Exception_encountered		PHF7_ENST00000327906.3_5'Flank|BAP1_ENST00000296288.5_Frame_Shift_Del_p.P124fs	p.P124fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	5	842_843	-			0	Interaction with HIP2.	K4DI82	Frame_Shift_Del	DEL	ENST00000327906.3		c.371_372delCT	CCDS2854.1																																																																																									0.564	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	6.920000e+00	4.984000e+01	-12	-12	26	26	NM_016483		17			3	0.882						17	3	0.882	-	52441978	AG	-	52441977	6	5	49	0	1	1	0	1	0	0	0	0	1311	175	7	0		0	BAP1	3	52441977	5'Flank	DEL	AG	TCGA-VD-A8KK-01A-11D-A39W-08		52441977	145580453	2	919	16	2									
BAP1	51533	broad.mit.edu	37	3	52441978	52441978	+	5'Flank	DEL	G	G	-			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr3:52441978delG	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Frame_Shift_Del_p.P124fs|BAP1_ENST00000296288.5_Frame_Shift_Del_p.P124fs	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.F118fs*1(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GCCTACCTCAGGGCTGAAACC	0.567																																						ENST00000460680.1											1	Deletion - Frameshift(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(370-372)cctfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						56	51	53					3																	52441978		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52441978delG	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"Zinc fingers, PHD-type"		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52441978delG	Exception_encountered		BAP1_ENST00000296288.5_Frame_Shift_Del_p.P124fs	p.P124fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	5	842	-			124		K4DI82	Frame_Shift_Del	DEL	ENST00000327906.3	37	c.371delC	CCDS2854.1																																																																																									0.567	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	.	.	-12	-12	28	28	NM_016483		17			4	0.81						17	4	0.81	-	52441978	G	-	52441978	6	5	49	0	1	1	0	1	0	0	0	0	1311	1000	35	0		0	BAP1	3	52441978	5'Flank	DEL	G	TCGA-VD-A8KK-01A-11D-A39W-08	1	52441978	145580452	3	920	16	2									
CENPE	1062	broad.mit.edu	37	4	104074328	104074328	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr4:104074328A>G	ENST00000265148.3	-	25	3202	c.3113T>C	c.(3112-3114)aTa>aCa	p.I1038T	CENPE_ENST00000380026.3_Missense_Mutation_p.I1013T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1038					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGCTCAATTATCTCATTATC	0.313																																						ENST00000265148.3											0			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(3112-3114)aTa>aCa	centromere protein E, 312kDa						132	127	129					4																	104074328		2202	4298	6500	SO:0001583	missense	1062			blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104074328A>G	Z15005	Z15005	CCDS34042.1, CCDS68768.1	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29		2013-11-05	2002-08-29			ENSG00000138778		ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	1856	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	"protein phosphatase 1, regulatory subunit 61"	117143	117143	"centromere protein E (312kD)"		"centromere protein E (312kD)"			7851898	7851898	Standard	Standard	NM_001286734	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	uc003hxb.1	Q02224	Q02224			ENST00000265148.3:c.3113T>C	4.37:g.104074328A>G	ENSP00000265148:p.Ile1038Thr		CENPE_ENST00000380026.3_Missense_Mutation_p.I1013T	p.I1038T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	25	3202	-			1038		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.3113T>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	4.990	0.183896	0.09495	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.94280	-3.39;-3.39;-3.39	3.88	-0.12	0.13539	3.88	-0.12	0.13539	.	.	.	.	.	T	0.80613	0.4656	N	0.08118	0	0.09310	N	1	B;B	0.24721	0.11;0.081	B;B	0.17098	0.017;0.01	T	0.68488	-0.5395	9	0.33940	T	0.23	.	1.138	0.01759	0.5112:0.1537:0.1856:0.1495	.	1013;1038	Q02224-3;Q02224	.;CENPE_HUMAN	T	1038;1038;1013;1038	ENSP00000265148:I1038T;ENSP00000369365:I1013T;ENSP00000423981:I1038T	ENSP00000265148:I1038T	I	-	2	0	0	CENPE	104293777	104293777	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.913000	0.28611	-0.097000	0.12307	0.460000	0.39030	ATA		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			26.401335	-11	-11	33	33			8	26.463529	26.463529	6	0.571429	0	0	0	1	0	8	6	0.571429	G	104074328	A	G	104074328	3	3	49	1	0	0	0	0	1	0	0	0	3230	449	16	4	5092	4	CENPE	4	104074328	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08		104074328	87079948	4	921											
PDE4D	5144	broad.mit.edu	37	5	58289225	58289225	+	Nonsense_Mutation	SNP	G	G	C			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr5:58289225G>C	ENST00000340635.6	-	7	1164	c.989C>G	c.(988-990)tCa>tGa	p.S330*	PDE4D_ENST00000317118.8_Nonsense_Mutation_p.S39*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.S266*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.S269*|PDE4D_ENST00000358923.6_Nonsense_Mutation_p.S28*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.S194*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.S200*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.S269*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.S208*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	330					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TATAAACTCTGACACTTGATT	0.338																																						ENST00000340635.6											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(988-990)tCa>tGa	phosphodiesterase 4D, cAMP-specific						81	79	80					5																	58289225		1817	4082	5899	SO:0001587	stop_gained	5144			signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58289225G>C			CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24		2010-06-24	2010-06-24						3.1.4.17	"Phosphodiesterases"	"Phosphodiesterases"	8783	8783	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3				Standard	Standard	NM_006203	NM_006203		Approved		uc003jsa.2	uc003jsa.2	Q08499	Q08499			ENST00000340635.6:c.989C>G	5.37:g.58289225G>C	ENSP00000345502:p.Ser330*		PDE4D_ENST00000507116.1_Nonsense_Mutation_p.S266*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.S200*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.S269*|PDE4D_ENST00000317118.8_Nonsense_Mutation_p.S39*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.S194*|PDE4D_ENST00000358923.6_Nonsense_Mutation_p.S28*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.S269*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.S208*	p.S330*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	7	1164	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	330		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Nonsense_Mutation	SNP	ENST00000340635.6	37	c.989C>G	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197607	0.94997	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	.	.	.	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6271	0.91344	0.0:0.0:1.0:0.0	.	.	.	.	X	330;199;194;266;28;39;200;208;269;269;28	.	ENSP00000321739:S39X	S	-	2	0	0	PDE4D	58324982	58324982	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.492000	0.97957	2.644000	0.89710	0.557000	0.71058	TCA		0.338	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3		69.771374	-27	-27	41	41			21	69.846997	69.846997	25	0.456522	0	0	0	1	0	21	25	0.456522	C	58289225	G	C	58289225	4	2	49	1	0	0	0	0	0	1	0	0	11642	1294	45	5	1476	5	PDE4D	5	58289225	Nonsense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		58289225	122626035	5	922											
C5orf20	140947	broad.mit.edu	37	5	134782379	134782379	+	Silent	SNP	C	C	T	rs372976487	byFrequency	TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr5:134782379C>T	ENST00000503143.2	-	1	659	c.420G>A	c.(418-420)ccG>ccA	p.P140P	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		140						nucleus (GO:0005634)		p.P140P(1)		endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACTGTGAACGGGTAGAGTC	0.517													C|||	2	0.000399361	0	0	5008	,	,		20123	0		0	False		,,,				2504	0.002					ENST00000503143.2											1	Substitution - coding silent(1)	endometrium(1)	endometrium(1)|lung(1)|prostate(1)	3						c.(418-420)ccG>ccA	chromosome 5 open reading frame 20	C		0,4406		0,0,2203	137	147	143		420	-3.9	0	5		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5orf20	NM_130848.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		140/245	134782379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140947				nucleus		g.chr5:134782379C>T																																																	ENST00000503143.2:c.420G>A	5.37:g.134782379C>T			TIFAB_ENST00000537858.1_3'UTR	p.P140P	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	659	-			140			Silent	SNP	ENST00000503143.2	37	c.420G>A	CCDS4186.1																																																																																									0.517	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1		168.744188	-41	-41	102	102			57	170.194483	170.194483	88	0.393103	0	0	0	1	0	57	88	0.393103	T	134782379	C	T	134782379	2	4	49	1	0	0	0	0	0	0	0	1	2284	523	19	1		1	C5orf20	5	134782379	Silent	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08	76493154	134782379	46132881	6	923											
PSMB8	5696	broad.mit.edu	37	6	32809923	32809923	+	Silent	SNP	G	G	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr6:32809923G>A	ENST00000374882.3	-	4	575	c.525C>T	c.(523-525)ggC>ggT	p.G175G	TAPSAR1_ENST00000453426.1_lincRNA|PSMB8_ENST00000395339.3_Silent_p.G151G|PSMB9_ENST00000395330.1_5'Flank|PSMB8_ENST00000374881.2_Silent_p.G171G	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	175					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)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TCTTATCCCAGCCACAGATCA	0.522																																					NSCLC(48;53 1172 10859 13624 22883)	ENST00000374881.2											0			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						c.(511-513)ggC>ggT	proteasome (prosome, macropain) subunit, beta type, 8						137	117	124					6																	32809923		1511	2709	4220	SO:0001819	synonymous_variant	5696			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|interspecies interaction between organisms|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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32809923G>A			CCDS4756.1, CCDS4757.1	CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264	ENSG00000204264	ENSG00000204264		"Proteasome (prosome, macropain) subunits"	"Proteasome (prosome, macropain) subunits"	9545	9545	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			177046	177046	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7	"proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)", "large multifunctional peptidase 7"	LMP7		1529427, 10329130	1529427, 10329130	Standard	Standard	XM_005275000	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	uc003oce.3	P28062	P28062	OTTHUMG00000031285	OTTHUMG00000031285	ENST00000374882.3:c.525C>T	6.37:g.32809923G>A			PSMB8_ENST00000374882.3_Silent_p.G175G|PSMB8_ENST00000395339.3_Silent_p.G151G	p.G171G	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN			4	802	-			175		B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	ENST00000374882.3	37	c.513C>T	CCDS4757.1																																																																																									0.522	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3		-0.307338	-13	-13	33	33	NM_148919		3	6.840141	6.840141	36	0.076923	0	0	0	1	0	3	36	0.076923	A	32809923	G	A	32809923	2	1	49	1	0	0	0	0	0	0	0	1	12683	958	34	2		2	PSMB8	6	32809923	Silent	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		32809923	138305144	7	924											
HEATR2	54919	broad.mit.edu	37	7	803563	803563	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr7:803563G>A	ENST00000297440.6	+	8	1755	c.1735G>A	c.(1735-1737)Gca>Aca	p.A579T	HEATR2_ENST00000313147.5_Missense_Mutation_p.A579T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	579						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGACTGGACCGCACACTCGCC	0.657																																						ENST00000297440.6											0			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1735-1737)Gca>Aca	HEAT repeat containing 2						118	104	109					7																	803563		2203	4300	6503	SO:0001583	missense	54919					protein binding	g.chr7:803563G>A	AL832914, AK000404, NM_017802, AK056233	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818	ENSG00000164818	ENSG00000164818				26013	26013	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614864	614864						23040496	23040496	Standard	Standard	NM_017802	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	uc010krz.1	Q86Y56	Q86Y56	OTTHUMG00000151416	OTTHUMG00000151416	ENST00000297440.6:c.1735G>A	7.37:g.803563G>A	ENSP00000297440:p.Ala579Thr		HEATR2_ENST00000313147.5_Missense_Mutation_p.A579T	p.A579T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	8	1755	+		Ovarian(82;0.0112)	579		Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1735G>A	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.174|4.174	0.030770|0.030770	0.08101|0.08101	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862|ENST00000440747	T;T|.	0.64803|.	-0.12;-0.12|.	5.03|5.03	0.185|0.185	0.15096|0.15096	5.03|5.03	0.185|0.185	0.15096|0.15096	Armadillo-type fold (1);|.	0.590962|.	0.18530|.	N|.	0.138510|.	T|T	0.16041|0.16041	0.0386|0.0386	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.27823|.	0.12;0.19|.	B;B|.	0.15052|.	0.005;0.012|.	T|T	0.21211|0.21211	-1.0252|-1.0252	10|5	0.10902|.	T|.	0.67|.	-9.6938|-9.6938	0.8086|0.8086	0.01089|0.01089	0.2741:0.1121:0.3703:0.2434|0.2741:0.1121:0.3703:0.2434	.|.	579;325|.	Q86Y56;F5H8D4|.	HEAT2_HUMAN;.|.	T|H	579;579;325|380	ENSP00000297440:A579T;ENSP00000321451:A579T|.	ENSP00000297440:A579T|.	A|R	+|+	1|2	0|0	0|0	HEATR2|HEATR2	770089|770089	770089|770089	0.042000|0.042000	0.20092|0.20092	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.645000|0.645000	0.24782|0.24782	0.214000|0.214000	0.20742|0.20742	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.657	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1		-16.880603	-45	-45	90	90	NM_017802		4	7.33742	7.33742	101	0.038095	0	0	0	1	0	4	101	0.038095	A	803563	G	A	803563	3	1	49	1	0	0	0	0	1	0	0	0	7028	1087	38	1	1765	1	HEATR2	7	803563	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		803563	158335100	8	925											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		119.390129	-31	-31	81	81	NM_002072		39	121.9015	121.9015	75	0.342105	0	0	0	1	0	39	75	0.342105	G	80409488	T	G	80409488	3	3	49	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KK-01A-11D-A39W-08		80409488	60803943	9	926											
COL27A1	85301	broad.mit.edu	37	9	117027754	117027754	+	Splice_Site	SNP	C	C	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr9:117027754C>A	ENST00000356083.3	+	32	3783	c.3392C>A	c.(3391-3393)cCg>cAg	p.P1131Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1131	Collagen-like 9.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCAGGAGAACCGGTAAGAGCC	0.612																																						ENST00000356083.3											0			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3391-3393)cCg>cAg	collagen, type XXVII, alpha 1						59	54	55					9																	117027754		2203	4300	6503	SO:0001630	splice_region_variant	85301			cell adhesion		extracellular matrix structural constituent	g.chr9:117027754C>A	AB058773	AB058773	CCDS6802.1	CCDS6802.1	9q33.1	2013-01-16			2013-01-16			ENSG00000196739	ENSG00000196739	ENSG00000196739	ENSG00000196739		"Collagens"	"Collagens"	22986	22986	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608461	608461						12766169	12766169	Standard	Standard	NM_032888	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	uc011lxl.2	Q8IZC6	Q8IZC6	OTTHUMG00000020537	OTTHUMG00000020537	ENST00000356083.3:c.3393+1C>A	9.37:g.117027754C>A				p.P1131Q	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			32	3783	+			1131	Collagen-like 9.|Pro-rich.|Triple-helical region.	Q66K43|Q96JF7	Splice_Site	SNP	ENST00000356083.3	37	c.3392C>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978473	0.53720	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96716	-4.1	5.25	4.35	0.52113	5.25	4.35	0.52113	.	.	.	.	.	D	0.95934	0.8676	L	0.39566	1.225	0.51767	D	0.999937	D	0.69078	0.997	D	0.68943	0.961	D	0.93803	0.7103	9	0.27082	T	0.32	.	9.4823	0.38908	0.0:0.9031:0.0:0.0969	.	1131	Q8IZC6	CORA1_HUMAN	Q	1131	ENSP00000348385:P1131Q	ENSP00000348385:P1131Q	P	+	2	0	0	COL27A1	116067575	116067575	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.442000	0.44873	1.221000	0.43506	0.591000	0.81541	CCG		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		-4.216809	1	1	38	38	NM_032888	Missense_Mutation	3	6.727252	6.727252	50	0.056604	1	0	1	1	1	3	50	0.056604	A	117027754	C	A	117027754	5	1	49	1	0	0	0	0	0	0	1	0	3685	666	23	5	3518	5	COL27A1	9	117027754	Splice_Site	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08	36618266	117027754	24185677	10	927											
STAM	8027	broad.mit.edu	37	10	17686366	17686366	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr10:17686366G>T	ENST00000377524.3	+	1	243	c.28G>T	c.(28-30)Gat>Tat	p.D10Y	STAM_ENST00000540523.1_5'UTR|RP11-390B4.5_ENST00000563601.1_RNA	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	10					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CAATCCCTTCGATCAGGATGT	0.617																																						ENST00000377524.3											0			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(28-30)Gat>Tat	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1						171	112	132					10																	17686366		2203	4300	6503	SO:0001583	missense	8027			cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17686366G>T	U43899	U43899	CCDS7122.1	CCDS7122.1	10p14-p13	2009-04-29			2009-04-29			ENSG00000136738	ENSG00000136738	ENSG00000136738	ENSG00000136738				11357	11357	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	"HSE1 homolog (S. cerevisiae)"	601899	601899						8780729	8780729	Standard	Standard	NM_003473	NM_003473		Approved	STAM1	uc001ipj.2	uc001ipj.2	Q92783	Q92783	OTTHUMG00000017749	OTTHUMG00000017749	ENST00000377524.3:c.28G>T	10.37:g.17686366G>T	ENSP00000366746:p.Asp10Tyr		STAM_ENST00000540523.1_5'UTR	p.D10Y	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			1	243	+			10		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.28G>T	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240830	0.79912	.	.	ENSG00000136738	ENST00000377524	T	0.24350	1.86	4.63	4.63	0.57726	4.63	4.63	0.57726	VHS subgroup (1);ENTH/VHS (2);VHS (1);	0.156559	0.64402	D	0.000015	T	0.34221	0.0890	M	0.79805	2.47	0.80722	D	1	P	0.42039	0.769	B	0.40477	0.33	T	0.38200	-0.9672	10	0.87932	D	0	-6.4693	13.1725	0.59606	0.0:0.0:1.0:0.0	.	10	Q92783	STAM1_HUMAN	Y	10	ENSP00000366746:D10Y	ENSP00000366746:D10Y	D	+	1	0	0	STAM	17726372	17726372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.420000	0.59841	2.564000	0.86499	0.591000	0.81541	GAT		0.617	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1		2.802991	-7	-7	36	36	NM_003473		3	7.343813	7.343813	26	0.103448	1	0	1	1	1	3	26	0.103448	T	17686366	G	T	17686366	3	4	49	1	0	0	0	0	1	0	0	0	15247	1058	37	5	30	5	STAM	10	17686366	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		17686366	117848381	11	928											
C11orf54	28970	broad.mit.edu	37	11	93487180	93487180	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr11:93487180C>A	ENST00000331239.4	+	5	486	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	C11orf54_ENST00000528099.1_Missense_Mutation_p.Q103K|C11orf54_ENST00000540113.1_Missense_Mutation_p.Q84K|C11orf54_ENST00000354421.3_Missense_Mutation_p.Q103K|C11orf54_ENST00000528288.1_Missense_Mutation_p.Q103K			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	103					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGTCCATTTCAGACTCTCGG	0.338																																						ENST00000528288.1											0			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8						c.(307-309)Cag>Aag	chromosome 11 open reading frame 54						90	102	98					11																	93487180		2198	4298	6496	SO:0001583	missense	28970				nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93487180C>A	AF092133	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			2012-08-09			ENSG00000182919	ENSG00000182919	ENSG00000182919	ENSG00000182919				30204	30204	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615810	615810						16522806	16522806	Standard	Standard	NM_014039	NM_014039		Approved	PTD012	uc001pef.3	uc001pef.3	Q9H0W9	Q9H0W9	OTTHUMG00000167452	OTTHUMG00000167452	ENST00000331239.4:c.307C>A	11.37:g.93487180C>A	ENSP00000331209:p.Gln103Lys		C11orf54_ENST00000540113.1_Missense_Mutation_p.Q84K|C11orf54_ENST00000354421.3_Missense_Mutation_p.Q103K|C11orf54_ENST00000528099.1_Missense_Mutation_p.Q103K|C11orf54_ENST00000331239.4_Missense_Mutation_p.Q103K	p.Q103K	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN			5	542	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	103		A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37	c.307C>A		.	.	.	.	.	.	.	.	.	.	C	4.449	0.083089	0.08533	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000531650;ENST00000524485;ENST00000527363;ENST00000526335	.	.	.	4.95	4.95	0.65309	4.95	4.95	0.65309	Domain of unknown function DUF1907 (1);	0.217358	0.48286	D	0.000187	T	0.26991	0.0661	N	0.04203	-0.255	0.37889	D	0.930664	B;B;B	0.16396	0.017;0.002;0.017	B;B;B	0.16289	0.015;0.004;0.015	T	0.22277	-1.0221	9	0.11182	T	0.66	-4.599	11.2584	0.49067	0.3109:0.6891:0.0:0.0	.	103;103;103	Q9H0W9;Q9H0W9-3;A8K718	CK054_HUMAN;.;.	K	103;103;103;103;84;84;103;84;103;103	.	ENSP00000331209:Q103K	Q	+	1	0	0	C11orf54	93126828	93126828	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.662000	0.68032	2.586000	0.87340	0.591000	0.81541	CAG		0.338	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1		-31.043220	-50	-50	82	82	NM_014039		4	6.974547	6.974547	149	0.026144	1	0	1	1	1	4	149	0.026144	A	93487180	C	A	93487180	3	1	49	1	0	0	0	0	1	0	0	0	1649	827	29	5	321	5	C11orf54	11	93487180	Missense_Mutation	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08		93487180	41519336	12	929											
SORL1	6653	broad.mit.edu	37	11	121323156	121323157	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr11:121323156_121323157insC	ENST00000260197.7	+	1	245_246	c.116_117insC	c.(115-120)agcgcgfs	p.A40fs	RP11-730K11.1_ENST00000501964.1_RNA|RP11-730K11.1_ENST00000529160.1_RNA|SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	40					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CACGGCGGCAGCGCGCCCTTGC	0.743																																						ENST00000260197.7											0			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(115-120)agcgcgfs	sortilin-related receptor, L(DLR class) A repeats containing																																			SO:0001589	frameshift_variant	6653			cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121323156_121323157insC	Y08110	Y08110	CCDS8436.1	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642	ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	"Fibronectin type III domain containing"	11185	11185	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	"LDLR relative with 11 ligand-binding repeats"	602005	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	9157966, 8940146	Standard	Standard	NM_003105	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	uc001pxx.3	Q92673	Q92673	OTTHUMG00000166057	OTTHUMG00000166057	ENST00000260197.7:c.117dupC	11.37:g.121323157_121323157dupC	ENSP00000260197:p.Ala40fs		SORL1_ENST00000532451.1_3'UTR|RP11-730K11.1_ENST00000529160.1_RNA|RP11-730K11.1_ENST00000501964.1_RNA	p.A40fs	NM_003105.5	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	1	245_246	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	40		B2RNX7|Q92856	Frame_Shift_Ins	INS	ENST00000260197.7	37	c.116_117insC	CCDS8436.1																																																																																									0.743	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	.	.	3	3	3	3	NM_003105		2			4	0.33						2	4	0.33	C	121323157	-	C	121323156	7	5	49	1	0	1	1	0	0	0	0	0	14934	971	34	0	118	0	SORL1	11	121323156	Frame_Shift_Ins	INS	-	TCGA-VD-A8KK-01A-11D-A39W-08	27835976	121323156	13683360	13	930											
RERGL	79785	broad.mit.edu	37	12	18237495	18237495	+	Silent	SNP	C	C	T	rs371238120		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:18237495C>T	ENST00000229002.2	-	5	497	c.291G>A	c.(289-291)gcG>gcA	p.A97A	RERGL_ENST00000536890.1_Splice_Site_p.R62H|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.A96A	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	97	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGTAGATCAGCGCTTTTGCAA	0.383																																						ENST00000536890.1											0			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(184-186)cGc>cAc	RERG/RAS-like	T		0,4406		0,0,2203	142	139	140		291	2.5	1	12		140	2,8598	819.1+/-406.8	0,2,4298	no	coding-synonymous	RERGL	NM_024730.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		97/206	18237495	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79785			signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237495C>T	AK026308	AK026308	CCDS8679.1, CCDS66332.1	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			2014-08-12			ENSG00000111404	ENSG00000111404	ENSG00000111404	ENSG00000111404				26213	26213	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										24127187	24127187	Standard	Standard	NM_001286201	NM_001286201		Approved	FLJ22655	uc001rdq.3	uc001rdq.3	Q9H628	Q9H628	OTTHUMG00000168820	OTTHUMG00000168820	ENST00000229002.2:c.291G>A	12.37:g.18237495C>T			RERGL_ENST00000538724.1_Silent_p.A96A|RERGL_ENST00000229002.2_Silent_p.A97A|RERGL_ENST00000541632.1_5'UTR	p.R62H			Q9H628	RERGL_HUMAN			4	185	-			0	Small GTPase-like.		Splice_Site	SNP	ENST00000229002.2	37	c.185G>A	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	T	9.276	1.046969	0.19748	0.0	2.33E-4	ENSG00000111404	ENST00000536890	D	0.96396	-4.0	4.91	2.5	0.30297	4.91	2.5	0.30297	.	.	.	.	.	D	0.93848	0.8032	.	.	.	0.23563	N	0.997403	.	.	.	.	.	.	D	0.88440	0.3041	6	0.87932	D	0	.	1.8515	0.03170	0.1179:0.1684:0.1685:0.5452	.	.	.	.	H	62	ENSP00000437490:R62H	ENSP00000437490:R62H	R	-	2	0	0	RERGL	18128762	18128762	0.998000	0.40836	0.999000	0.59377	0.189000	0.23516	0.502000	0.22594	0.494000	0.27859	-0.516000	0.04426	CGC		0.383	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1		-19.734115	-26	-26	77	77	NM_024730		4	6.716314	6.716314	109	0.035398	0	0	0	1	0	4	109	0.035398	T	18237495	C	T	18237495	2	4	49	1	0	0	0	0	0	0	0	1	13233	755	27	1		1	RERGL	12	18237495	Silent	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08		18237495	115614400	14	931											
OVCH1	341350	broad.mit.edu	37	12	29597085	29597085	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:29597085T>C	ENST00000318184.5	-	24	3009	c.3010A>G	c.(3010-3012)Act>Gct	p.T1004A	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1004						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TACCCCATAGTAGTTCTGTGA	0.398																																						ENST00000318184.5											0			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(3010-3012)Act>Gct	ovochymase 1						201	199	200					12																	29597085		1825	4085	5910	SO:0001583	missense	341350			proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29597085T>C	BN000128	BN000128			12p11.23	2012-11-08			2012-11-08			ENSG00000187950	ENSG00000187950	ENSG00000187950	ENSG00000187950				23080	23080	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12838346	12838346	Standard	Standard	NM_183378	NM_183378		Approved	OVCH	uc001rix.1	uc001rix.1	Q7RTY7	Q7RTY7	OTTHUMG00000167741	OTTHUMG00000167741	ENST00000318184.5:c.3010A>G	12.37:g.29597085T>C	ENSP00000326708:p.Thr1004Ala		OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.T1004A	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			24	3009	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		1004			Missense_Mutation	SNP	ENST00000318184.5	37	c.3010A>G		.	.	.	.	.	.	.	.	.	.	T	0.016	-1.515327	0.00975	.	.	ENSG00000187950	ENST00000318184;ENST00000537054	T;T	0.33654	1.4;2.13	2.49	1.32	0.21799	2.49	1.32	0.21799	CUB (2);	.	.	.	.	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	P	0.38827	0.649	B	0.33042	0.157	T	0.13872	-1.0493	9	0.05959	T	0.93	.	4.2969	0.10906	0.0:0.1687:0.0:0.8313	.	1004	Q7RTY7	OVCH1_HUMAN	A	1004;29	ENSP00000326708:T1004A;ENSP00000445480:T29A	ENSP00000326708:T1004A	T	-	1	0	0	OVCH1	29488352	29488352	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.318000	0.19504	0.385000	0.24970	0.460000	0.39030	ACT		0.398	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2		280.039367	-79	-79	117	117	NM_183378		83	280.083475	280.083475	89	0.482558	0	0	0	1	0	83	89	0.482558	C	29597085	T	C	29597085	3	2	49	1	0	0	0	0	1	0	0	0	11323	1638	57	4	414	4	OVCH1	12	29597085	Missense_Mutation	SNP	T	TCGA-VD-A8KK-01A-11D-A39W-08	11359590	29597085	104254810	15	932											
IRAK3	11213	broad.mit.edu	37	12	66638726	66638726	+	Splice_Site	SNP	A	A	G			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:66638726A>G	ENST00000261233.4	+	10	1507		c.e10-1		IRAK3_ENST00000457197.2_Splice_Site	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTCCTTGTAGGTAATAATG	0.318																																						ENST00000261233.4											0			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.e10-1	interleukin-1 receptor-associated kinase 3						58	59	59					12																	66638726		2203	4300	6503	SO:0001630	splice_region_variant	0			interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638726A>G	AF113136	AF113136	CCDS8975.1, CCDS44937.1	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			2008-05-02			ENSG00000090376	ENSG00000090376	ENSG00000090376	ENSG00000090376				17020	17020	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604459	604459						10383454	10383454	Standard	Standard	NM_001142523	NM_001142523		Approved	IRAK-M	uc001sth.3	uc001sth.3	Q9Y616	Q9Y616	OTTHUMG00000169002	OTTHUMG00000169002	ENST00000261233.4:c.1087-1A>G	12.37:g.66638726A>G			IRAK3_ENST00000457197.2_Splice_Site		NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	10	1507	+						Splice_Site	SNP	ENST00000261233.4	37		CCDS8975.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518000	0.27211	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	.	.	.	6.03	6.03	0.97812	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.95	0.58394	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	IRAK3	64924993	64924993	1.000000	0.71417	0.984000	0.44739	0.030000	0.12068	6.219000	0.72231	2.308000	0.77769	0.533000	0.62120	.		0.318	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		129.253525	-30	-30	40	40		Intron	38	129.256475	129.256475	37	0.506667	0	0	0	1	0	38	37	0.506667	G	66638726	A	G	66638726	5	3	49	1	0	0	0	0	0	0	1	0	7824	434	15	4	1123	4	IRAK3	12	66638726	Splice_Site	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08	37041641	66638726	67213169	16	933											
CAND1	55832	broad.mit.edu	37	12	67705551	67705551	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr12:67705551G>A	ENST00000545606.1	+	14	3876	c.3439G>A	c.(3439-3441)Gag>Aag	p.E1147K		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1147					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCGACTTGTTGAGCCATTACG	0.403																																						ENST00000545606.1											0			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(3439-3441)Gag>Aag	cullin-associated and neddylation-dissociated 1						147	130	136					12																	67705551		2203	4300	6503	SO:0001583	missense	55832			cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67705551G>A			CCDS8977.1	CCDS8977.1	12q14	2008-02-05			2008-02-05			ENSG00000111530	ENSG00000111530	ENSG00000111530	ENSG00000111530				30688	30688	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"TBP interacting protein"	"TBP interacting protein"	607727	607727						10048485, 8954946	10048485, 8954946	Standard	Standard	NM_018448	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	uc001stn.2	Q86VP6	Q86VP6	OTTHUMG00000169060	OTTHUMG00000169060	ENST00000545606.1:c.3439G>A	12.37:g.67705551G>A	ENSP00000442318:p.Glu1147Lys			p.E1147K	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	14	3876	+			1147		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.3439G>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	36	5.834492	0.97003	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.68181	-0.31;-0.31	5.93	5.93	0.95920	5.93	5.93	0.95920	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86694	0.5994	M	0.92412	3.305	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71870	0.956;0.975	D	0.88493	0.3077	9	.	.	.	-15.0934	20.3334	0.98727	0.0:0.0:1.0:0.0	.	979;1147	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	K	1147;1147;687	ENSP00000442318:E1147K;ENSP00000444089:E687K	.	E	+	1	0	0	CAND1	65991818	65991818	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.547000	0.98100	2.818000	0.97014	0.591000	0.81541	GAG		0.403	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1		155.939281	-28	-28	75	75	NM_018448		50	156.101036	156.101036	59	0.458716	0	0	0	1	0	50	59	0.458716	A	67705551	G	A	67705551	3	1	49	1	0	0	0	0	1	0	0	0	2615	1291	45	3	3493	3	CAND1	12	67705551	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08	1066825	67705551	66146344	17	934											
LCP1	3936	broad.mit.edu	37	13	46701814	46701814	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr13:46701814G>A	ENST00000398576.2	-	19	2184	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	LCP1_ENST00000323076.2_Missense_Mutation_p.A599V|LCP1_ENST00000435666.2_Missense_Mutation_p.A168V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	599	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTCTGGCAGGGCATACACTCT	0.488			T	BCL6	NHL																																	ENST00000398576.2		Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1795-1797)gCc>gTc	lymphocyte cytosolic protein 1 (L-plastin)						194	180	185					13																	46701814		2203	4300	6503	SO:0001583	missense	3936			regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46701814G>A	M22300	M22300	CCDS9403.1	CCDS9403.1	13q14.3	2013-01-10			2013-01-10			ENSG00000136167	ENSG00000136167	ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	"EF-hand domain containing"	6528	6528	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"plastin 2"	"plastin 2"	153430	153430						2111166	2111166	Standard	Standard	NM_002298	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	uc001vba.4	P13796	P13796	OTTHUMG00000016864	OTTHUMG00000016864	ENST00000398576.2:c.1796C>T	13.37:g.46701814G>A	ENSP00000381581:p.Ala599Val		LCP1_ENST00000323076.2_Missense_Mutation_p.A599V|LCP1_ENST00000435666.2_Missense_Mutation_p.A168V	p.A599V			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	19	2184	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	599	Actin-binding 2.|CH 4.	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1796C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	35	5.569044	0.96540	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.95069	-3.6;-3.6;-3.6	5.72	5.72	0.89469	5.72	5.72	0.89469	Calponin homology domain (5);	0.044394	0.85682	D	0.000000	D	0.96324	0.8801	M	0.72624	2.21	0.80722	D	1	P;D	0.89917	0.942;1.0	P;D	0.91635	0.859;0.999	D	0.92803	0.6258	10	0.02654	T	1	-16.4361	19.2318	0.93843	0.0:0.0:1.0:0.0	.	168;599	B4DUA0;P13796	.;PLSL_HUMAN	V	599;599;168	ENSP00000315757:A599V;ENSP00000381581:A599V;ENSP00000405134:A168V	ENSP00000315757:A599V	A	-	2	0	0	LCP1	45599815	45599815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	GCC		0.488	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3		-32.542074	-45	-45	108	108	NM_002298		4	7.205633	7.205633	155	0.025157	0	0	0	1	0	4	155	0.025157	A	46701814	G	A	46701814	3	1	49	1	0	0	0	0	1	0	0	0	8691	1203	42	2	91	2	LCP1	13	46701814	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		46701814	68468064	18	935											
FUS	2521	broad.mit.edu	37	16	31193944	31193944	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr16:31193944A>G	ENST00000254108.7	+	3	254	c.149A>G	c.(148-150)tAt>tGt	p.Y50C	FUS_ENST00000380244.3_Missense_Mutation_p.Y50C|FUS_ENST00000568685.1_Missense_Mutation_p.Y50C|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	50	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ACTTCAGGCTATGGCCAGAGC	0.522			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																	ENST00000254108.7		Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	0			breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(148-150)tAt>tGt	fused in sarcoma						101	95	97					16																	31193944		2197	4300	6497	SO:0001583	missense	2521			cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31193944A>G	AF071213	AF071213	CCDS10707.1, CCDS58454.1	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280	ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	"RNA binding motif (RRM) containing"	4010	4010	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	2372777, 7503811, 19251628, 19251627	Standard	Standard	NM_004960	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	uc002ebe.2	P35637	P35637	OTTHUMG00000132395	OTTHUMG00000132395	ENST00000254108.7:c.149A>G	16.37:g.31193944A>G	ENSP00000254108:p.Tyr50Cys		RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000568685.1_Missense_Mutation_p.Y50C|FUS_ENST00000380244.3_Missense_Mutation_p.Y50C	p.Y50C	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	3	254	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	50	Gln/Gly/Ser/Tyr-rich.	Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.149A>G	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965003	0.74131	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	T	0.80653	-1.4	6.11	6.11	0.99139	6.11	6.11	0.99139	.	0.157258	0.42964	D	0.000631	D	0.90024	0.6885	M	0.80616	2.505	0.52099	D	0.999941	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.998;0.996;0.997	D	0.91034	0.4866	10	0.72032	D	0.01	-7.1996	15.6822	0.77381	1.0:0.0:0.0:0.0	.	50;50;50;50;50	B4DVJ7;Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;.;FUS_HUMAN;.	C	50	ENSP00000254108:Y50C	ENSP00000254108:Y50C	Y	+	2	0	0	FUS	31101445	31101445	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.561000	0.73955	2.343000	0.79666	0.496000	0.49642	TAT		0.522	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2		205.809815	-17	-17	88	88	NM_004960		60	205.90432	205.90432	53	0.530973	0	0	0	1	0	60	53	0.530973	G	31193944	A	G	31193944	3	3	49	1	0	0	0	0	1	0	0	0	6100	449	16	4	159	4	FUS	16	31193944	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08		31193944	59160809	19	936											
OR7D4	125958	broad.mit.edu	37	19	9325198	9325198	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr19:9325198T>C	ENST00000308682.2	-	1	344	c.316A>G	c.(316-318)Atg>Gtg	p.M106V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	106						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(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCAGCAAACATCATTAAAAAA	0.512																																						ENST00000308682.2											0			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(316-318)Atg>Gtg	olfactory receptor, family 7, subfamily D, member 4						87	79	81					19																	9325198		2203	4300	6503	SO:0001583	missense	125958			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325198T>C			CCDS32901.1	CCDS32901.1	19p13.2	2013-12-17		2004-03-10	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8380	8380	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611538	611538		OR7D4P		OR7D4P				Standard	Standard	NM_001005191	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	uc002mla.2	Q8NG98	Q8NG98	OTTHUMG00000179936	OTTHUMG00000179936	ENST00000308682.2:c.316A>G	19.37:g.9325198T>C	ENSP00000310488:p.Met106Val			p.M106V	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	344	-			106		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.316A>G	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	T	0.491	-0.875508	0.02550	.	.	ENSG00000174667	ENST00000308682	T	0.03663	3.85	3.76	0.0796	0.14417	3.76	0.0796	0.14417	GPCR, rhodopsin-like superfamily (1);	0.891435	0.09666	N	0.771873	T	0.01254	0.0041	N	0.00980	-1.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.27785	T	0.31	.	3.9777	0.09481	0.5253:0.111:0.0:0.3636	.	106	Q8NG98	OR7D4_HUMAN	V	106	ENSP00000310488:M106V	ENSP00000310488:M106V	M	-	1	0	0	OR7D4	9186198	9186198	0.000000	0.05858	0.001000	0.08648	0.443000	0.32047	-1.968000	0.01507	0.161000	0.19458	0.358000	0.22013	ATG		0.512	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1		93.538635	-14	-14	67	67			30	94.043634	94.043634	43	0.410959	0	0	0	1	0	30	43	0.410959	C	9325198	T	C	9325198	3	2	49	1	0	0	0	0	1	0	0	0	11220	1435	50	4	626	4	OR7D4	19	9325198	Missense_Mutation	SNP	T	TCGA-VD-A8KK-01A-11D-A39W-08		9325198	49803785	20	937											
ZNF527	84503	broad.mit.edu	37	19	37880647	37880647	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr19:37880647A>G	ENST00000436120.2	+	5	1803	c.1696A>G	c.(1696-1698)Atc>Gtc	p.I566V	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	566					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(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCATCAGATCTTGTCCCT	0.398																																						ENST00000436120.2											0			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33						c.(1696-1698)Atc>Gtc	zinc finger protein 527						47	52	51					19																	37880647		2197	4295	6492	SO:0001583	missense	84503			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880647A>G	AB058732, AK091585	AB058732, AK091585	CCDS42559.1	CCDS42559.1	19q13.1	2013-01-08			2013-01-08			ENSG00000189164	ENSG00000189164	ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	29385	29385	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11347906	11347906	Standard	Standard	NM_032453	NM_032453		Approved	KIAA1829	uc010efk.1	uc010efk.1	Q8NB42	Q8NB42	OTTHUMG00000048173	OTTHUMG00000048173	ENST00000436120.2:c.1696A>G	19.37:g.37880647A>G	ENSP00000390179:p.Ile566Val		ZNF527_ENST00000587349.1_Intron	p.I566V	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1803	+			566		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1696A>G	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	A	2.283	-0.364284	0.05103	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	T	0.35605	1.3	3.84	0.108	0.14548	3.84	0.108	0.14548	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34959	N	0.003556	T	0.16514	0.0397	N	0.13235	0.315	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24297	-1.0164	10	0.16420	T	0.52	.	7.4605	0.27291	0.673:0.0:0.327:0.0	.	566;534	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	V	566;534;514	ENSP00000390179:I514V	ENSP00000325231:I534V	I	+	1	0	0	ZNF527	42572487	42572487	0.000000	0.05858	0.020000	0.16555	0.924000	0.55760	-0.823000	0.04443	-0.227000	0.09884	0.533000	0.62120	ATC		0.398	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1		110.908284	5	5	78	78	NM_032453		35	110.920762	110.920762	37	0.486111	0	0	0	1	0	35	37	0.486111	G	37880647	A	G	37880647	3	3	49	1	0	0	0	0	1	0	0	0	17965	333	12	4	1710	4	ZNF527	19	37880647	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08	28555449	37880647	21248336	21	938											
NUP62	23636	broad.mit.edu	37	19	50412426	50412426	+	Silent	SNP	G	G	C			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr19:50412426G>C	ENST00000596217.1	-	2	2526	c.639C>G	c.(637-639)acC>acG	p.T213T	NUP62_ENST00000352066.3_Silent_p.T213T|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Silent_p.T213T|NUP62_ENST00000597029.1_Silent_p.T213T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.T213T|NUP62_ENST00000597723.1_Silent_p.T213T			P37198	NUP62_HUMAN	nucleoporin 62kDa	213	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGCTGGTGATGGTGGCTGTGG	0.647																																						ENST00000596217.1											0			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(637-639)acC>acG	nucleoporin 62kDa						81	77	78					19																	50412426		2203	4300	6503	SO:0001819	synonymous_variant	23636			carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412426G>C	X58521	X58521	CCDS12788.1	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024	ENSG00000213024	ENSG00000213024				8066	8066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	"nuclear pore glycoprotein p62"	605815	605815	"nucleoporin 62kD"		"nucleoporin 62kD"			1915414	1915414	Standard	Standard	NM_016553	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	uc002pqx.3	P37198	P37198	OTTHUMG00000183077	OTTHUMG00000183077	ENST00000596217.1:c.639C>G	19.37:g.50412426G>C			NUP62_ENST00000413454.1_Silent_p.T213T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.T213T|NUP62_ENST00000597723.1_Silent_p.T213T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Silent_p.T213T|NUP62_ENST00000352066.3_Silent_p.T213T	p.T213T			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2526	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	213	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.639C>G	CCDS12788.1																																																																																									0.647	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1		171.500157	-33	-33	60	60	NM_153719		56	171.6012	171.6012	49	0.533333	0	0	0	1	0	56	49	0.533333	C	50412426	G	C	50412426	2	2	49	1	0	0	0	0	0	0	0	1	10768	1335	47	5		5	NUP62	19	50412426	Silent	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08	12531779	50412426	8716557	22	939											
VPREB3	29802	broad.mit.edu	37	22	24095146	24095146	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	g.chr22:24095146C>T	ENST00000248948.3	-	2	393	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	VPREB3_ENST00000398465.3_Missense_Mutation_p.A81T|ZNF70_ENST00000341976.3_5'Flank	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	97	Ig-like.					endoplasmic reticulum (GO:0005783)				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				AGGACACAGGCATTGTGGGCC	0.587																																						ENST00000248948.3											0			large_intestine(1)|lung(1)|skin(1)	3						c.(289-291)Gcc>Acc	pre-B lymphocyte 3						111	87	95					22																	24095146		2203	4300	6503	SO:0001583	missense	29802				endoplasmic reticulum		g.chr22:24095146C>T			CCDS13813.1	CCDS13813.1	22q11.23	2013-01-11	2008-09-12		2013-01-11	2008-09-12		ENSG00000128218	ENSG00000128218	ENSG00000128218	ENSG00000128218		"Immunoglobulin superfamily / V-set domain containing"	"Immunoglobulin superfamily / V-set domain containing"	12710	12710	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605017	605017						10702669, 14670953	10702669, 14670953	Standard	Standard	NM_013378	NM_013378		Approved	8HS20	uc002zxt.3	uc002zxt.3	Q9UKI3	Q9UKI3	OTTHUMG00000150738	OTTHUMG00000150738	ENST00000248948.3:c.289G>A	22.37:g.24095146C>T	ENSP00000248948:p.Ala97Thr		VPREB3_ENST00000398465.3_Missense_Mutation_p.A81T	p.A97T	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN			2	393	-		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)	97	Ig-like.	B2R587	Missense_Mutation	SNP	ENST00000248948.3	37	c.289G>A	CCDS13813.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278712	0.23307	.	.	ENSG00000128218	ENST00000398465;ENST00000248948	T;T	0.63580	-0.05;-0.05	5.04	2.96	0.34315	5.04	2.96	0.34315	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.154834	0.30620	N	0.009222	T	0.33381	0.0861	N	0.11364	0.135	0.09310	N	1	B	0.21071	0.051	B	0.23275	0.045	T	0.26883	-1.0090	10	0.05620	T	0.96	.	6.5635	0.22499	0.0:0.6911:0.1479:0.1609	.	97	Q9UKI3	VPRE3_HUMAN	T	81;97	ENSP00000381483:A81T;ENSP00000248948:A97T	ENSP00000248948:A97T	A	-	1	0	0	VPREB3	22425146	22425146	0.000000	0.05858	0.007000	0.13788	0.034000	0.12701	-0.330000	0.07925	0.866000	0.35629	0.650000	0.86243	GCC		0.587	VPREB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319879.2		73.873134	-18	-18	25	25	NM_013378		25	73.877533	73.877533	24	0.510204	0	0	0	1	0	25	24	0.510204	T	24095146	C	T	24095146	3	4	49	1	0	0	0	0	1	0	0	0	17184	710	25	2	86	2	VPREB3	22	24095146	Missense_Mutation	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08		24095146	27209420	23	940											
C1orf127	148345	broad.mit.edu	37	1	11014184	11014184	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr1:11014184C>T	ENST00000377008.4	-	9	936	c.490G>A	c.(490-492)Gga>Aga	p.G164R	C1orf127_ENST00000377004.4_Missense_Mutation_p.G331R			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	164										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGGGTTCCTCCGACTTCTTGG	0.572																																						ENST00000377004.4											0			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(991-993)Gga>Aga	chromosome 1 open reading frame 127						112	115	114					1																	11014184		2203	4300	6503	SO:0001583	missense	148345						g.chr1:11014184C>T	AK094437	AK094437	CCDS53267.1	CCDS53267.1	1p36.22	2008-02-05			2008-02-05			ENSG00000175262	ENSG00000175262	ENSG00000175262	ENSG00000175262				26730	26730	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										14702039	14702039	Standard	Standard	NM_001170754	NM_001170754		Approved	FLJ37118	uc010oao.2	uc010oao.2	Q8N9H9	Q8N9H9	OTTHUMG00000002032	OTTHUMG00000002032	ENST00000377008.4:c.490G>A	1.37:g.11014184C>T	ENSP00000366207:p.Gly164Arg		C1orf127_ENST00000377008.4_Missense_Mutation_p.G164R	p.G331R	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	10	990	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	182		A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.991G>A		.	.	.	.	.	.	.	.	.	.	C	0.003	-2.548495	0.00140	.	.	ENSG00000175262	ENST00000377004;ENST00000377008	T;T	0.20738	2.06;2.05	4.94	-5.3	0.02738	4.94	-5.3	0.02738	.	3.475080	0.00919	N	0.002564	T	0.07593	0.0191	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27673	-1.0067	10	0.06625	T	0.88	4.6333	5.1712	0.15110	0.0677:0.3202:0.1539:0.4583	.	182;182;164	B7ZLG7;Q8N9H9-2;Q8N9H9	.;.;CA127_HUMAN	R	331;164	ENSP00000366203:G331R;ENSP00000366207:G164R	ENSP00000366203:G331R	G	-	1	0	0	C1orf127	10936771	10936771	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.396000	0.07278	-1.710000	0.01397	-3.386000	0.00040	GGA		0.572	C1orf127-202	KNOWN	basic	protein_coding	protein_coding			85.383499	-53	-53	74	74	NM_173507		28	86.439323	86.439323	47	0.373333	0	0	0	1	0	28	47	0.373333	T	11014184	C	T	11014184	3	4	50	1	0	0	0	0	1	0	0	0	1994	661	23	1	1492	1	C1orf127	1	11014184	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08		11014184	238236437	1	941											
LUZP1	7798	broad.mit.edu	37	1	23417948	23417948	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr1:23417948G>A	ENST00000302291.4	-	4	3608	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L	LUZP1_ENST00000314174.5_Missense_Mutation_p.P936L|LUZP1_ENST00000418342.1_Missense_Mutation_p.P936L|LUZP1_ENST00000374623.3_Missense_Mutation_p.P936L			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	936					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCGAGTTGGGGGGTCTTCTAA	0.502																																						ENST00000302291.4											0			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2806-2808)cCc>cTc	leucine zipper protein 1						109	111	111					1																	23417948		2203	4300	6503	SO:0001583	missense	7798				nucleus		g.chr1:23417948G>A	BC051733	BC051733	CCDS30628.1	CCDS30628.1	1p36	2008-02-05			2008-02-05			ENSG00000169641	ENSG00000169641	ENSG00000169641	ENSG00000169641				14985	14985	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601422	601422						8812416	8812416	Standard	Standard	NM_033631	NM_033631		Approved	LUZP	uc010odv.1	uc010odv.1	Q86V48	Q86V48	OTTHUMG00000003227	OTTHUMG00000003227	ENST00000302291.4:c.2807C>T	1.37:g.23417948G>A	ENSP00000303758:p.Pro936Leu		LUZP1_ENST00000314174.5_Missense_Mutation_p.P936L|LUZP1_ENST00000374623.3_Missense_Mutation_p.P936L|LUZP1_ENST00000418342.1_Missense_Mutation_p.P936L	p.P936L			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3608	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	936		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2807C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475173	0.26511	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15372	2.63;2.63;2.63;2.43	4.55	3.62	0.41486	4.55	3.62	0.41486	.	0.766388	0.11531	N	0.554685	T	0.18718	0.0449	L	0.51422	1.61	0.39449	D	0.96737	B;B	0.26809	0.16;0.078	B;B	0.24701	0.054;0.055	T	0.04495	-1.0947	10	0.66056	D	0.02	.	11.4052	0.49894	0.0:0.0:0.819:0.181	.	936;936	Q86V48-2;Q86V48	.;LUZP1_HUMAN	L	936	ENSP00000393460:P936L;ENSP00000363752:P936L;ENSP00000303758:P936L;ENSP00000313705:P936L	ENSP00000303758:P936L	P	-	2	0	0	LUZP1	23290535	23290535	0.922000	0.31269	0.495000	0.27527	0.405000	0.30901	1.904000	0.39868	1.129000	0.42072	-0.515000	0.04445	CCC		0.502	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		-21.206348	-12	-12	146	146	NM_033631		7	13.626482	13.626482	150	0.044586	0	0	0	1	0	7	150	0.044586	A	23417948	G	A	23417948	3	1	50	1	0	0	0	0	1	0	0	0	9086	1232	43	3	431	3	LUZP1	1	23417948	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	12403764	23417948	225832673	2	942											
PDE4DIP	9659	broad.mit.edu	37	1	144873916	144873916	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr1:144873916G>T	ENST00000369354.3	-	31	5230	c.5041C>A	c.(5041-5043)Ccc>Acc	p.P1681T	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P1637T|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P1817T|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1681T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1681					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)		GTATTCTGGGGAGTTGGCAAG	0.517			T	PDGFRB	MPD																																	ENST00000369359.4		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0			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						c.(5449-5451)Ccc>Acc	phosphodiesterase 4D interacting protein						371	375	373					1																	144873916		2203	4299	6502	SO:0001583	missense	9659			cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144873916G>T	AB007923, AB007946	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104	ENSG00000178104	ENSG00000178104				15580	15580	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"myomegalin"	"myomegalin"	608117	608117	"cardiomyopathy associated 2"	CMYA2	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	9455484, 11134006	Standard	Standard	NM_022359	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	uc021ouh.1	Q5VU43	Q5VU43	OTTHUMG00000013846	OTTHUMG00000013846	ENST00000369354.3:c.5041C>A	1.37:g.144873916G>T	ENSP00000358360:p.Pro1681Thr		PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1681T|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P1637T|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.P1681T	p.P1817T			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	34	5487	-			1681		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.5449C>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371737	0.42003	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369359	T;T;T;T	0.01854	4.6;4.92;4.93;4.92	5.43	4.45	0.53987	5.43	4.45	0.53987	.	.	.	.	.	T	0.02193	0.0068	L	0.43152	1.355	0.80722	D	1	D;P	0.58620	0.983;0.78	P;B	0.54544	0.755;0.335	T	0.60910	-0.7169	9	0.31617	T	0.26	.	8.2279	0.31579	0.1078:0.0:0.8922:0.0	.	1637;1681	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	T	1637;1681;1681;1817	ENSP00000327209:P1637T;ENSP00000358360:P1681T;ENSP00000358363:P1681T;ENSP00000358366:P1817T	ENSP00000327209:P1637T	P	-	1	0	0	PDE4DIP	143585273	143585273	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.179000	0.50887	2.810000	0.96702	0.650000	0.86243	CCC		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		201.246368	-85	-85	290	290	NM_022359		84	212.621083	212.621083	205	0.290657	1	0	2.06477e-34	1	2.41873e-34	84	205	0.290657	T	144873916	G	T	144873916	3	4	50	1	0	0	0	0	1	0	0	0	11643	1174	41	5	2055	5	PDE4DIP	1	144873916	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	121455968	144873916	104376705	3	943											
GTF3C3	9330	broad.mit.edu	37	2	197657738	197657738	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr2:197657738G>A	ENST00000263956.3	-	3	442	c.353C>T	c.(352-354)gCg>gTg	p.A118V	GTF3C3_ENST00000409364.3_Missense_Mutation_p.A118V|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	118					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TACATCGCCCGCAGTGGGTTG	0.403																																						ENST00000263956.3											0			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(352-354)gCg>gTg	general transcription factor IIIC, polypeptide 3, 102kDa						56	56	56					2																	197657738		2203	4300	6503	SO:0001583	missense	9330				transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657738G>A	AF133123	AF133123	CCDS2316.1, CCDS56153.1	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041	ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	4666	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604888	604888	"general transcription factor IIIC, polypeptide 3 (102kD)"		"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	10373544	Standard	Standard	NM_001206774	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	uc002uts.3	Q9Y5Q9	Q9Y5Q9	OTTHUMG00000154633	OTTHUMG00000154633	ENST00000263956.3:c.353C>T	2.37:g.197657738G>A	ENSP00000263956:p.Ala118Val		GTF3C3_ENST00000409364.3_Missense_Mutation_p.A118V	p.A118V	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	442	-			118		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.353C>T	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621691	0.46736	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.46451	0.87;0.89	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.194547	0.44097	D	0.000498	T	0.31888	0.0811	N	0.19112	0.55	0.49915	D	0.999834	B;B	0.18741	0.03;0.007	B;B	0.18263	0.021;0.003	T	0.05257	-1.0896	10	0.29301	T	0.29	-15.8657	18.7444	0.91787	0.0:0.0:1.0:0.0	.	118;118	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	V	118	ENSP00000263956:A118V;ENSP00000386465:A118V	ENSP00000263956:A118V	A	-	2	0	0	GTF3C3	197365983	197365983	1.000000	0.71417	0.992000	0.48379	0.796000	0.44982	6.030000	0.70903	2.652000	0.90054	0.655000	0.94253	GCG		0.403	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		-9.628519	-19	-19	55	55			3	6.618612	6.618612	69	0.041667	0	0	0	1	0	3	69	0.041667	A	197657738	G	A	197657738	3	1	50	1	0	0	0	0	1	0	0	0	6874	1087	38	1	2371	1	GTF3C3	2	197657738	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		197657738	45541635	4	944											
BAP1	51533	broad.mit.edu	37	3	52443612	52443613	+	5'Flank	INS	-	-	C	rs397509413		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr3:52443612_52443613insC	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Frame_Shift_Ins_p.V27fs|BAP1_ENST00000460680.1_Frame_Shift_Ins_p.V27fs|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CTCCACTTGCACCCCCTTGACA	0.629																																						ENST00000460680.1											0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(79-81)gtgfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52443612_52443613insC	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"Zinc fingers, PHD-type"		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52443617_52443617dupC	Exception_encountered		BAP1_ENST00000296288.5_Frame_Shift_Ins_p.V27fs	p.V27fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	3	550_551	-			27		K4DI82	Frame_Shift_Ins	INS	ENST00000327906.3	37	c.79_80insG	CCDS2854.1																																																																																									0.629	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	.	.	-59	-59	177	177	NM_016483		131			24	0.85						131	24	0.85	C	52443613	-	C	52443612	6	5	50	0	1	1	1	0	0	0	0	0	1311	159	6	0		0	BAP1	3	52443612	5'Flank	INS	-	TCGA-VD-A8KL-01A-11D-A39W-08		52443612	145578818	5	945											
SH3RF1	57630	broad.mit.edu	37	4	170037527	170037527	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr4:170037527G>A	ENST00000284637.9	-	10	2373	c.2032C>T	c.(2032-2034)Ccc>Tcc	p.P678S	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	678					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CGGCCACTGGGCTCAGCCTCC	0.577																																						ENST00000284637.9											0			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(2032-2034)Ccc>Tcc	SH3 domain containing ring finger 1						72	62	65					4																	170037527		2203	4300	6503	SO:0001583	missense	57630				Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170037527G>A	BC033203	BC033203	CCDS34099.1	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	17650	17650	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"plenty of SH3 domains"	"plenty of SH3 domains"			"SH3 multiple domains 2"	SH3MD2	"SH3 multiple domains 2"	SH3MD2		9482736	9482736	Standard	Standard	NM_020870	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	uc003isa.1	Q7Z6J0	Q7Z6J0	OTTHUMG00000161010	OTTHUMG00000161010	ENST00000284637.9:c.2032C>T	4.37:g.170037527G>A	ENSP00000284637:p.Pro678Ser		SH3RF1_ENST00000508685.1_5'UTR	p.P678S	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	10	2373	-		Prostate(90;0.00267)|Renal(120;0.0183)	678		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.2032C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	1.489	-0.555200	0.03967	.	.	ENSG00000154447	ENST00000284637	T	0.12879	2.64	5.49	4.65	0.58169	5.49	4.65	0.58169	.	0.362204	0.32473	N	0.006050	T	0.09423	0.0232	L	0.40543	1.245	0.09310	N	1	B	0.23442	0.085	B	0.19666	0.026	T	0.34601	-0.9822	10	0.12430	T	0.62	-23.7601	5.7545	0.18164	0.1601:0.0:0.6441:0.1958	.	678	Q7Z6J0	SH3R1_HUMAN	S	678	ENSP00000284637:P678S	ENSP00000284637:P678S	P	-	1	0	0	SH3RF1	170274102	170274102	0.019000	0.18553	0.324000	0.25361	0.003000	0.03518	0.664000	0.25068	1.320000	0.45209	-0.263000	0.10527	CCC		0.577	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3		-1.831504	-27	-27	28	28	NM_020870		3	6.315695	6.315695	40	0.069767	0	0	0	1	0	3	40	0.069767	A	170037527	G	A	170037527	3	1	50	1	0	0	0	0	1	0	0	0	14258	1203	42	2	646	2	SH3RF1	4	170037527	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		170037527	21116749	6	946											
PCDHB7	56129	broad.mit.edu	37	5	140554081	140554081	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr5:140554081C>A	ENST00000231137.3	+	1	1839	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	555	Cadherin 5. {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(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.726																																						ENST00000231137.3											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1663-1665)aaC>aaA							28	32	31					5																	140554081		2192	4283	6475	SO:0001583	missense	0			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554081C>A	AF152500	AF152500	CCDS4249.1	CCDS4249.1	5q31	2010-01-26			2010-01-26			ENSG00000113212	ENSG00000113212	ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8692	8692	other	protocadherin	other	protocadherin			606333	606333						10380929	10380929	Standard	Standard	NM_018940	NM_018940		Approved	PCDH-BETA7	uc003lit.3	uc003lit.3	Q9Y5E2	Q9Y5E2	OTTHUMG00000129608	OTTHUMG00000129608	ENST00000231137.3:c.1665C>A	5.37:g.140554081C>A	ENSP00000231137:p.Asn555Lys			p.N555K	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1839	+			555	Cadherin 5.	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1665C>A	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.05|17.05	3.291169|3.291169	0.59976|0.59976	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000231137|ENST00000543636	T|.	0.01745|.	4.66|.	4.3|4.3	0.795|0.795	0.18643|0.18643	4.3|4.3	0.795|0.795	0.18643|0.18643	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.85579|0.85579	0.5729|0.5729	H|H	0.98833|0.98833	4.345|4.345	0.38258|0.38258	D|D	0.941809|0.941809	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	D|D	0.83921|0.83921	0.0301|0.0301	9|5	0.87932|.	D|.	0|.	.|.	5.9973|5.9973	0.19501|0.19501	0.0:0.3365:0.0:0.6635|0.0:0.3365:0.0:0.6635	.|.	555|.	Q9Y5E2|.	PCDB7_HUMAN|.	K|K	555|338	ENSP00000231137:N555K|.	ENSP00000231137:N555K|.	N|T	+|+	3|2	2|0	2|0	PCDHB7|PCDHB7	140534265|140534265	140534265|140534265	0.000000|0.000000	0.05858|0.05858	0.992000|0.992000	0.48379|0.48379	0.966000|0.966000	0.64601|0.64601	-2.009000|-2.009000	0.01455|0.01455	0.355000|0.355000	0.24131|0.24131	0.449000|0.449000	0.29647|0.29647	AAC|ACG		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		142.714814	-2	-2	64	64	NM_018940		44	143.731678	143.731678	26	0.628571	1	0	2.45108e-15	1	2.71606e-15	44	26	0.628571	A	140554081	C	A	140554081	3	1	50	1	0	0	0	0	1	0	0	0	11547	535	19	5	1667	5	PCDHB7	5	140554081	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08		140554081	40361179	7	947											
IGFBP3	3486	broad.mit.edu	37	7	45956889	45956889	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr7:45956889G>A	ENST00000275521.6	-	2	686	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Missense_Mutation_p.R88C|IGFBP3_ENST00000381083.4_Missense_Mutation_p.R191C	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	185					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)	p.R185C(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTTTGTAGCGCTGGCTGTCT	0.507											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000275521.6											1	Substitution - Missense(1)	pancreas(1)	large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17						c.(553-555)Cgc>Tgc	insulin-like growth factor binding protein 3						168	148	154					7																	45956889		2203	4300	6503	SO:0001583	missense	3486			negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956889G>A			CCDS5505.1, CCDS34632.1	CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			2014-09-17			ENSG00000146674	ENSG00000146674	ENSG00000146674	ENSG00000146674				5472	5472	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"growth hormone-dependent binding protein", "acid stable subunit of the 140 K IGF complex", "binding protein 53", "binding protein 29", "IGF-binding protein 3"	"growth hormone-dependent binding protein", "acid stable subunit of the 140 K IGF complex", "binding protein 53", "binding protein 29", "IGF-binding protein 3"	146732	146732						1695633	1695633	Standard	Standard	NM_000598	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	uc003tnr.3	P17936	P17936	OTTHUMG00000023769	OTTHUMG00000023769	ENST00000275521.6:c.553C>T	7.37:g.45956889G>A	ENSP00000275521:p.Arg185Cys	935	IGFBP3_ENST00000381086.5_Missense_Mutation_p.R88C|IGFBP3_ENST00000381083.4_Missense_Mutation_p.R191C|IGFBP3_ENST00000465642.1_5'UTR	p.R185C	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN			2	686	-			185		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.553C>T	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.118696|4.118696	0.77323|0.77323	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000417621|ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817	.|T;T;T;T	.|0.28255	.|2.32;1.66;2.32;1.62	5.55|5.55	5.55|5.55	0.83447|0.83447	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Thyroglobulin type-1 (1);	.|2.918300	.|0.00843	.|N	.|0.001760	T|T	0.63988|0.63988	0.2558|0.2558	M|M	0.81239|0.81239	2.535|2.535	0.45733|0.45733	D|D	0.998635|0.998635	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.66351	.|0.943;0.943;0.943	T|T	0.37709|0.37709	-0.9694|-0.9694	5|10	.|0.72032	.|D	.|0.01	-52.4084|-52.4084	15.0203|15.0203	0.71624|0.71624	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|88;185;170	.|B3KWK7;P17936;B4DN53	.|.;IBP3_HUMAN;.	V|C	46|162;185;88;171;83;191;157;75	.|ENSP00000275521:R185C;ENSP00000370476:R88C;ENSP00000370473:R191C;ENSP00000389668:R75C	.|ENSP00000275521:R185C	A|R	-|-	2|1	0|0	0|0	IGFBP3|IGFBP3	45923414|45923414	45923414|45923414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.779000|4.779000	0.62375|0.62375	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.507	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3		61.975147	-29	-29	98	98	NM_001013398		27	70.494931	70.494931	94	0.22314	0	0	0	1	0	27	94	0.22314	A	45956889	G	A	45956889	3	1	50	1	0	0	0	0	1	0	0	0	7580	1087	38	1	334	1	IGFBP3	7	45956889	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		45956889	113181774	8	948											
KIAA1324L	222223	broad.mit.edu	37	7	86542377	86542377	+	Silent	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr7:86542377G>A	ENST00000450689.2	-	14	2060	c.1875C>T	c.(1873-1875)caC>caT	p.H625H	KIAA1324L_ENST00000297222.6_Silent_p.H385H|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T579I|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Silent_p.H458H	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	625						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCTCAATGTAGTGGCCTGGAG	0.552																																						ENST00000444627.1											0			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1735-1737)aCt>aTt	KIAA1324-like						161	134	143					7																	86542377		2203	4300	6503	SO:0001819	synonymous_variant	222223				integral to membrane		g.chr7:86542377G>A	AK055902	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			2008-09-18			ENSG00000164659	ENSG00000164659	ENSG00000164659	ENSG00000164659				21945	21945	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"EIG121-like"	"EIG121-like"	614048	614048								Standard	Standard	NM_001142749	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	uc011kha.2	A8MWY0	A8MWY0	OTTHUMG00000153995	OTTHUMG00000153995	ENST00000450689.2:c.1875C>T	7.37:g.86542377G>A			KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000297222.6_Silent_p.H385H|KIAA1324L_ENST00000450689.2_Silent_p.H625H|KIAA1324L_ENST00000416314.1_Silent_p.H458H	p.T579I			A8MWY0	K132L_HUMAN			14	1853	-	Esophageal squamous(14;0.0058)		0		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.1736C>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576656	0.45902	.	.	ENSG00000164659	ENST00000444627	T	0.16897	2.31	5.82	4.93	0.64822	5.82	4.93	0.64822	.	.	.	.	.	T	0.28566	0.0707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00277	-1.1854	6	0.33940	T	0.23	.	14.3001	0.66341	0.072:0.0:0.928:0.0	.	.	.	.	I	579	ENSP00000397377:T579I	ENSP00000397377:T579I	T	-	2	0	0	KIAA1324L	86380313	86380313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.994000	0.56994	2.752000	0.94435	0.655000	0.94253	ACT		0.552	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3		-4.249452	-4	-4	40	40	NM_152748		4	8.78629	8.78629	61	0.061538	0	0	0	1	0	4	61	0.061538	A	86542377	G	A	86542377	2	1	50	1	0	0	0	0	0	0	0	1	8224	1020	36	3		3	KIAA1324L	7	86542377	Silent	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	40585488	86542377	72596286	9	949											
NRCAM	4897	broad.mit.edu	37	7	107871480	107871480	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr7:107871480T>C	ENST00000425651.2	-	5	544	c.545A>G	c.(544-546)gAt>gGt	p.D182G	NRCAM_ENST00000351718.4_Missense_Mutation_p.D176G|NRCAM_ENST00000379022.4_Missense_Mutation_p.D182G|NRCAM_ENST00000413765.2_Missense_Mutation_p.D182G|NRCAM_ENST00000379028.3_Missense_Mutation_p.D182G|NRCAM_ENST00000379024.4_Missense_Mutation_p.D182G	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	182	Ig-like 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTTACAATTATCCATCCAAAA	0.308																																						ENST00000379028.3											0			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(544-546)gAt>gGt	neuronal cell adhesion molecule						51	53	52					7																	107871480		2202	4300	6502	SO:0001583	missense	4897			angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107871480T>C			CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			2013-02-11			ENSG00000091129	ENSG00000091129	ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	7994	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	"NgCAM-related cell adhesion molecule"	601581	601581						8812479	8812479	Standard	Standard	NM_001037132	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	uc022aka.1	Q92823	Q92823	OTTHUMG00000154973	OTTHUMG00000154973	ENST00000425651.2:c.545A>G	7.37:g.107871480T>C	ENSP00000401244:p.Asp182Gly		NRCAM_ENST00000413765.2_Missense_Mutation_p.D182G|NRCAM_ENST00000351718.4_Missense_Mutation_p.D176G|NRCAM_ENST00000379024.4_Missense_Mutation_p.D182G|NRCAM_ENST00000379022.4_Missense_Mutation_p.D182G|NRCAM_ENST00000425651.2_Missense_Mutation_p.D182G	p.D182G			Q92823	NRCAM_HUMAN			8	1015	-			182	Ig-like 2.	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.545A>G	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560350	0.86335	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.8	4.8	0.61643	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.095855	0.64402	D	0.000001	T	0.55862	0.1947	M	0.62723	1.935	0.80722	D	1	P;P;P;P;P	0.50528	0.906;0.936;0.871;0.906;0.796	P;P;P;P;P	0.58013	0.615;0.831;0.648;0.615;0.581	T	0.53507	-0.8429	10	0.33141	T	0.24	.	14.8154	0.70031	0.0:0.0:0.0:1.0	.	182;182;182;176;182	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	G	182;182;182;182;176;182;182;182;176;176	ENSP00000368314:D182G;ENSP00000407858:D182G;ENSP00000325269:D176G;ENSP00000368310:D182G;ENSP00000401244:D182G;ENSP00000368308:D182G;ENSP00000390421:D176G	ENSP00000325269:D176G	D	-	2	0	0	NRCAM	107658716	107658716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.132000	0.65825	0.528000	0.53228	GAT		0.308	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2		68.469737	-44	-44	50	50	NM_001037132		24	71.183779	71.183779	55	0.303797	0	0	0	1	0	24	55	0.303797	C	107871480	T	C	107871480	3	2	50	1	0	0	0	0	1	0	0	0	10644	1435	50	4	3503	4	NRCAM	7	107871480	Missense_Mutation	SNP	T	TCGA-VD-A8KL-01A-11D-A39W-08	21329103	107871480	51267183	10	950											
PAPPA	5069	broad.mit.edu	37	9	118949960	118949960	+	Missense_Mutation	SNP	G	G	A	rs201429158		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:118949960G>A	ENST00000328252.3	+	2	1312	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	315	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAATGCCCACGGCTTTCTGCT	0.552																																						ENST00000328252.3											0			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(943-945)Ggc>Agc	pregnancy-associated plasma protein A, pappalysin 1						80	75	77					9																	118949960		2203	4300	6503	SO:0001583	missense	5069			cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949960G>A			CCDS6813.1	CCDS6813.1	9q33.1	2014-03-05			2014-03-05			ENSG00000182752	ENSG00000182752	ENSG00000182752	ENSG00000182752				8602	8602	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385	176385						7679961	7679961	Standard	Standard	NM_002581	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	uc004bjn.3	Q13219	Q13219	OTTHUMG00000021045	OTTHUMG00000021045	ENST00000328252.3:c.943G>A	9.37:g.118949960G>A	ENSP00000330658:p.Gly315Ser			p.G315S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1312	+			315	Metalloprotease.	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.943G>A	CCDS6813.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.084	-0.410122	0.04799	.	.	ENSG00000182752	ENST00000328252	T	0.01685	4.69	5.88	0.506	0.16961	5.88	0.506	0.16961	.	0.547831	0.22203	N	0.063216	T	0.01523	0.0049	L	0.38838	1.175	0.80722	D	1	B	0.21071	0.051	B	0.08055	0.003	T	0.52638	-0.8549	10	0.10636	T	0.68	-9.6888	9.5958	0.39573	0.3757:0.0:0.6243:0.0	.	315	Q13219	PAPP1_HUMAN	S	315	ENSP00000330658:G315S	ENSP00000330658:G315S	G	+	1	0	0	PAPPA	117989781	117989781	0.377000	0.25106	0.151000	0.22473	0.585000	0.36419	0.692000	0.25482	0.023000	0.15187	-0.126000	0.14955	GGC		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1		54.705566	-12	-12	40	40	NM_002581		16	54.830576	54.830576	12	0.571429	0	0	0	1	0	16	12	0.571429	A	118949960	G	A	118949960	3	1	50	1	0	0	0	0	1	0	0	0	11432	1116	39	1	949	1	PAPPA	9	118949960	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		118949960	22263471	11	951											
OR1Q1	158131	broad.mit.edu	37	9	125377737	125377737	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:125377737T>C	ENST00000297913.2	+	1	790	c.721T>C	c.(721-723)Tgc>Cgc	p.C241R	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	241					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTTTCTACCTGCGGCTCCCA	0.562																																						ENST00000297913.2											0			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(721-723)Tgc>Cgc	olfactory receptor, family 1, subfamily Q, member 1						83	84	84					9																	125377737		2203	4300	6503	SO:0001583	missense	158131			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377737T>C			CCDS35125.1	CCDS35125.1	9q33.2	2013-09-20			2013-09-20			ENSG00000165202	ENSG00000165202	ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8223	8223	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						OR1Q2, OR1Q3		OR1Q2, OR1Q3				Standard	Standard	NM_012364	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	uc011lyy.2	Q15612	Q15612	OTTHUMG00000020615	OTTHUMG00000020615	ENST00000297913.2:c.721T>C	9.37:g.125377737T>C	ENSP00000297913:p.Cys241Arg		RP11-64P14.7_ENST00000431442.1_RNA	p.C241R	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN			1	790	+			241		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.721T>C	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767025	0.69878	.	.	ENSG00000165202	ENST00000297913	T	0.00372	7.73	5.57	5.57	0.84162	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000050	T	0.02047	0.0064	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03750	-1.1007	10	0.87932	D	0	-1.414	14.8569	0.70344	0.0:0.0:0.0:1.0	.	241	Q15612	OR1Q1_HUMAN	R	241	ENSP00000297913:C241R	ENSP00000297913:C241R	C	+	1	0	0	OR1Q1	124417558	124417558	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.971000	0.70440	2.340000	0.79590	0.528000	0.53228	TGC		0.562	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1		-8.264093	-17	-17	81	81			4	7.009818	7.009818	69	0.054795	0	0	0	1	0	4	69	0.054795	C	125377737	T	C	125377737	3	2	50	1	0	0	0	0	1	0	0	0	10971	1580	55	4	723	4	OR1Q1	9	125377737	Missense_Mutation	SNP	T	TCGA-VD-A8KL-01A-11D-A39W-08	6427777	125377737	15835694	12	952											
WDR34	89891	hgsc.bcm.edu	37	9	131396572	131396597	+	Frame_Shift_Del	DEL	GAGGGAGAGCTGCAGCGAAGTCAAGG	GAGGGAGAGCTGCAGCGAAGTCAAGG	-	rs373865808|rs113007289		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08	GAGGGAGAGCTGCAGCGAAGTCAAGG	GAGGGAGAGCTGCAGCGAAGTCAAGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:131396572_131396597delGAGGGAGAGCTGCAGCGAAGTCAAGG	ENST00000372715.2	-	8	1340_1365	c.1280_1305delCCTTGACTTCGCTGCAGCTCTCCCTC	c.(1279-1305)cccttgacttcgctgcagctctccctcfs	p.PLTSLQLSL427fs	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	427						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACAGATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGGGCCTG	0.597																																																	0																																														SO:0001589	frameshift_variant	89891							BC011874	BC011874	CCDS6906.2	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	"WD repeat domain containing"	28296	28296	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613363	613363						19521662, 21953912, 24183451	19521662, 21953912, 24183451	Standard	Standard	NM_052844	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	uc004bvq.1	Q96EX3	Q96EX3	OTTHUMG00000020750	OTTHUMG00000020750	ENST00000372715.2:c.1280_1305delCCTTGACTTCGCTGCAGCTCTCCCTC	9.37:g.131396572_131396597delGAGGGAGAGCTGCAGCGAAGTCAAGG	ENSP00000361800:p.Pro427fs																	Q5VXV4|Q9BV46	Frame_Shift_Del	DEL	ENST00000372715.2	37		CCDS6906.2																																																																																									0.597	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1			-23	-23	83	83	NM_052844		13			26							13	26		-	131396597	GAGGGAGAGCTGCAGCGAAGTCAAGG	-	131396572	7	5	50	1	0	1	0	1	0	0	0	0	17285	1277	45	0	313	0	WDR34	9	131396572	Frame_Shift_Del	DEL	GAGGGAGAGCTGCAGCGAAGTCAAGG	TCGA-VD-A8KL-01A-11D-A39W-08	6018835	131396572	9816859	13	953											
FUBP3	8939	broad.mit.edu	37	9	133491801	133491801	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr9:133491801A>T	ENST00000319725.9	+	7	539	c.464A>T	c.(463-465)cAt>cTt	p.H155L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	155					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CCTGGCTTTCATAATGACATA	0.488																																						ENST00000319725.9											0			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21						c.(463-465)cAt>cTt	far upstream element (FUSE) binding protein 3						75	74	74					9																	133491801		2000	4165	6165	SO:0001583	missense	8939			positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133491801A>T	U69127	U69127	CCDS43893.1	CCDS43893.1	9q34.11	2008-02-05			2008-02-05			ENSG00000107164	ENSG00000107164	ENSG00000107164	ENSG00000107164				4005	4005	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603536	603536		FBP3		FBP3		8940189	8940189	Standard	Standard	NM_003934	NM_003934		Approved		uc004bzr.1	uc004bzr.1	Q96I24	Q96I24	OTTHUMG00000020809	OTTHUMG00000020809	ENST00000319725.9:c.464A>T	9.37:g.133491801A>T	ENSP00000318177:p.His155Leu			p.H155L	NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	7	539	+			155		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.464A>T	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.048870	0.55110	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	T	0.39056	1.1	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	M	0.66939	2.045	0.58432	D	0.999996	P;D;D	0.56968	0.564;0.978;0.978	B;P;P	0.54856	0.391;0.762;0.762	T	0.51965	-0.8638	10	0.27785	T	0.31	-15.0649	14.4551	0.67411	1.0:0.0:0.0:0.0	.	95;155;155	Q96I24-2;A3KFK8;Q96I24	.;.;FUBP3_HUMAN	L	142;155;95	ENSP00000318177:H155L	ENSP00000318177:H155L	H	+	2	0	0	FUBP3	132481622	132481622	1.000000	0.71417	0.910000	0.35882	0.985000	0.73830	8.887000	0.92456	2.020000	0.59435	0.459000	0.35465	CAT		0.488	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1		31.611443	-28	-28	36	36			11	32.970147	32.970147	26	0.297297	0	0	0	1	0	11	26	0.297297	T	133491801	A	T	133491801	3	4	50	1	0	0	0	0	1	0	0	0	6093	217	8	5	490	5	FUBP3	9	133491801	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08	2095229	133491801	7721630	14	954											
DHTKD1	55526	broad.mit.edu	37	10	12159715	12159721	+	Frame_Shift_Del	DEL	TTAACCC	TTAACCC	-	rs201639053		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:12159715_12159721delTTAACCC	ENST00000263035.4	+	14	2425_2431	c.2363_2369delTTAACCC	c.(2362-2370)tttaacccgfs	p.FNP788fs	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	788					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGAACAACATTTAACCCGGTCATTGGT	0.42																																						ENST00000263035.4											0			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2362-2370)tttaacccgfs	dehydrogenase E1 and transketolase domain containing 1																																			SO:0001589	frameshift_variant	55526			glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12159715_12159721delTTAACCC	BC002477	BC002477	CCDS7087.1	CCDS7087.1	10p14	2003-11-24			2003-11-24			ENSG00000181192	ENSG00000181192	ENSG00000181192	ENSG00000181192				23537	23537	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614984	614984						10997877	10997877	Standard	Standard	NM_018706	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	uc001ild.5	Q96HY7	Q96HY7	OTTHUMG00000017677	OTTHUMG00000017677	ENST00000263035.4:c.2363_2369delTTAACCC	10.37:g.12159715_12159721delTTAACCC	ENSP00000263035:p.Phe788fs			p.FNP788fs	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		14	2425_2431	+		Renal(717;0.228)	788		Q68CU5|Q9BUM8|Q9HCE2	Frame_Shift_Del	DEL	ENST00000263035.4	37	c.2363_2369delTTAACCC	CCDS7087.1																																																																																									0.42	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	.	.	-26	-26	100	100	NM_018706		46			41	0.53						46	41	0.53	-	12159721	TTAACCC	-	12159715	7	5	50	1	0	1	0	1	0	0	0	0	4500	1841	64	0	2417	0	DHTKD1	10	12159715	Frame_Shift_Del	DEL	TTAACCC	TCGA-VD-A8KL-01A-11D-A39W-08		12159715	123375032	15	955											
RPP38	10557	broad.mit.edu	37	10	15146062	15146062	+	Missense_Mutation	SNP	G	G	A	rs562959917		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:15146062G>A	ENST00000378197.4	+	3	1263	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Missense_Mutation_p.R250Q|NMT2_ENST00000466201.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	250			R -> G (in dbSNP:rs34040166).		RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GCTGACGGTCGGCAGGCTTCT	0.393													G|||	0	0	0	0	5008	,	,		18171	0		0	False		,,,				2504	0				GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4											0			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						c.(748-750)cGg>cAg	ribonuclease P/MRP 38kDa subunit						54	59	57					10																	15146062		2201	4299	6500	SO:0001583	missense	10557			tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15146062G>A	U77664	U77664	CCDS7108.1	CCDS7108.1	10p13	2012-05-21			2012-05-21			ENSG00000152464	ENSG00000152464	ENSG00000152464	ENSG00000152464				30329	30329	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606116	606116						9037013, 9630247	9037013, 9630247	Standard	Standard	NM_183005	NM_183005		Approved		uc001inx.5	uc001inx.5	P78345	P78345	OTTHUMG00000017728	OTTHUMG00000017728	ENST00000378197.4:c.749G>A	10.37:g.15146062G>A	ENSP00000367439:p.Arg250Gln		NMT2_ENST00000466201.1_Intron|RPP38_ENST00000378202.5_Missense_Mutation_p.R250Q|RPP38_ENST00000451677.1_Intron	p.R250Q	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN			3	1263	+			250		B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	ENST00000378197.4	37	c.749G>A	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.041506	0.00402	.	.	ENSG00000152464	ENST00000378203;ENST00000378202;ENST00000378197	T;T;T	0.09073	3.02;3.02;3.02	5.71	-1.81	0.07882	5.71	-1.81	0.07882	.	1.581750	0.03610	N	0.234684	T	0.02649	0.0080	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40664	-0.9551	10	0.10377	T	0.69	-2.3688	5.962	0.19305	0.4555:0.1435:0.401:0.0	.	250	P78345	RPP38_HUMAN	Q	250	ENSP00000367445:R250Q;ENSP00000367444:R250Q;ENSP00000367439:R250Q	ENSP00000367439:R250Q	R	+	2	0	0	RPP38	15186068	15186068	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.064000	0.14437	-0.274000	0.09232	-1.832000	0.00591	CGG		0.393	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1		63.659327	5	5	88	88	NM_006414		22	66.067308	66.067308	50	0.305556	0	0	0	1	0	22	50	0.305556	A	15146062	G	A	15146062	3	1	50	1	0	0	0	0	1	0	0	0	13613	1116	39	1	751	1	RPP38	10	15146062	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	2986347	15146062	120388685	16	956											
PRKG1	5592	broad.mit.edu	37	10	52751284	52751284	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:52751284T>G	ENST00000401604.2	+	1	340	c.146T>G	c.(145-147)gTg>gGg	p.V49G	PRKG1_ENST00000373985.1_Missense_Mutation_p.V37G			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	49	Required for dimerization.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GTGCTCCCAGTGCCCTCGACC	0.622																																						ENST00000373985.1											0			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(109-111)gTg>gGg	protein kinase, cGMP-dependent, type I						27	36	33					10																	52751284		1911	4126	6037	SO:0001583	missense	5592			actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:52751284T>G			CCDS7244.1	CCDS7244.1	10q11.2	2009-07-10			2009-07-10			ENSG00000185532	ENSG00000185532	ENSG00000185532	ENSG00000185532	2.7.11.1			9414	9414	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176894	176894		PRKGR1B, PRKG1B		PRKGR1B, PRKG1B		2792381, 1544322	2792381, 1544322	Standard	Standard	NM_001098512	NM_001098512		Approved	PGK, PKG	uc001jjo.3	uc001jjo.3	Q13976	Q13976	OTTHUMG00000018248	OTTHUMG00000018248	ENST00000401604.2:c.146T>G	10.37:g.52751284T>G	ENSP00000384200:p.Val49Gly		PRKG1_ENST00000401604.2_Missense_Mutation_p.V49G	p.V37G	NM_001098512.2	NP_001091982.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	1	167	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	49	Dimerization.	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.110T>G	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	T	9.623	1.134261	0.21123	.	.	ENSG00000185532	ENST00000401604;ENST00000373985	T;T	0.68181	-0.31;-0.29	4.93	1.11	0.20524	4.93	1.11	0.20524	Cyclic nucleotide-binding-like (1);	.	.	.	.	T	0.37544	0.1007	N	0.08118	0	0.34786	D	0.735233	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.23013	-1.0200	9	0.17369	T	0.5	.	3.9591	0.09403	0.0:0.2518:0.1872:0.561	.	49;49	B4DT93;Q13976	.;KGP1_HUMAN	G	49;37	ENSP00000384200:V49G;ENSP00000363097:V37G	ENSP00000363097:V37G	V	+	2	0	0	PRKG1	52421290	52421290	1.000000	0.71417	0.988000	0.46212	0.721000	0.41392	0.591000	0.23969	0.226000	0.20979	0.260000	0.18958	GTG		0.622	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			18.750776	3	3	12	12			6	18.77057	18.77057	5	0.545455	0	0	0	1	0	6	5	0.545455	G	52751284	T	G	52751284	3	3	50	1	0	0	0	0	1	0	0	0	12522	1696	59	5	148	5	PRKG1	10	52751284	Missense_Mutation	SNP	T	TCGA-VD-A8KL-01A-11D-A39W-08	37605222	52751284	82783463	17	957											
SLK	9748	broad.mit.edu	37	10	105758982	105758982	+	Missense_Mutation	SNP	A	A	G	rs148478778		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:105758982A>G	ENST00000369755.3	+	6	1238	c.693A>G	c.(691-693)atA>atG	p.I231M	SLK_ENST00000335753.4_Missense_Mutation_p.I231M	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGCTGAGATAGAACCACCTC	0.403																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3											0			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(691-693)atA>atG	STE20-like kinase	A	MET/ILE	0,4406		0,0,2203	80	77	78		693	4.5	1	10	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLK	NM_014720.2	10	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	231/1236	105758982	1,13005	2203	4300	6503	SO:0001583	missense	9748			apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105758982A>G			CCDS7553.1	CCDS7553.1	10q25.1	2010-06-25	2010-06-25		2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613	ENSG00000065613	ENSG00000065613				11088	11088	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"		"SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)", "STE20-like kinase (yeast)"			3526554	3526554	Standard	Standard	NM_014720	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	uc001kxo.1	Q9H2G2	Q9H2G2	OTTHUMG00000018999	OTTHUMG00000018999	ENST00000369755.3:c.693A>G	10.37:g.105758982A>G	ENSP00000358770:p.Ile231Met		SLK_ENST00000335753.4_Missense_Mutation_p.I231M	p.I231M	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	6	1238	+		Colorectal(252;0.178)	231	Protein kinase.	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.693A>G	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800842	0.50315	0.0	1.16E-4	ENSG00000065613	ENST00000335753;ENST00000369755	D;T	0.83992	-1.79;2.09	5.68	4.54	0.55810	5.68	4.54	0.55810	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050956	0.85682	D	0.000000	T	0.66819	0.2828	N	0.11818	0.18	0.58432	D	0.999998	P;P	0.41313	0.7;0.745	B;B	0.36567	0.228;0.225	T	0.68507	-0.5390	10	0.31617	T	0.26	.	11.9191	0.52781	0.9305:0.0:0.0695:0.0	.	231;231	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	M	231	ENSP00000336824:I231M;ENSP00000358770:I231M	ENSP00000336824:I231M	I	+	3	3	3	SLK	105748972	105748972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.742000	0.38248	2.162000	0.67917	0.482000	0.46254	ATA		0.403	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1		-8.935977	-18	-18	72	72	NM_014720		3	7.036105	7.036105	68	0.042254	0	0	0	1	0	3	68	0.042254	G	105758982	A	G	105758982	3	3	50	1	0	0	0	0	1	0	0	0	14748	410	15	4	715	4	SLK	10	105758982	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08	53007698	105758982	29775765	18	958											
PRLHR	2834	broad.mit.edu	37	10	120353694	120353694	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr10:120353694G>A	ENST00000369169.1	-	1	1062	c.1063C>T	c.(1063-1065)Cgc>Tgc	p.R355C	PRLHR_ENST00000239032.2_Missense_Mutation_p.R355C			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	355					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCTATCTTGCGGGGCCAAGCG	0.602																																						ENST00000239032.2											0			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(1063-1065)Cgc>Tgc	prolactin releasing hormone receptor						50	48	48					10																	120353694		2203	4300	6503	SO:0001583	missense	2834			female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353694G>A	AB048946	AB048946	CCDS7606.1	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	"GPCR / Class A : RF amide peptide receptors"	4464	4464	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600895	600895	"G protein-coupled receptor 10"	GPR10	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	8666380, 15885496	Standard	Standard	NM_004248	NM_004248		Approved	PrRPR	uc001ldp.1	uc001ldp.1	P49683	P49683	OTTHUMG00000019136	OTTHUMG00000019136	ENST00000369169.1:c.1063C>T	10.37:g.120353694G>A	ENSP00000358167:p.Arg355Cys		PRLHR_ENST00000369169.1_Missense_Mutation_p.R355C	p.R355C	NM_004248.2	NP_004239	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	1201	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	355		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.1063C>T	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934272	0.34096	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.37411	1.2;1.2	4.7	3.71	0.42584	4.7	3.71	0.42584	.	0.130594	0.47852	D	0.000220	T	0.46658	0.1404	L	0.53249	1.67	0.37443	D	0.914514	D	0.89917	1.0	P	0.60117	0.869	T	0.50056	-0.8872	10	0.45353	T	0.12	.	9.8449	0.41021	0.1757:0.0:0.8243:0.0	.	355	P49683	PRLHR_HUMAN	C	355	ENSP00000239032:R355C;ENSP00000358167:R355C	ENSP00000239032:R355C	R	-	1	0	0	PRLHR	120343684	120343684	0.407000	0.25352	0.905000	0.35620	0.015000	0.08874	2.045000	0.41250	2.445000	0.82738	0.561000	0.74099	CGC		0.602	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1		50.170072	6	6	39	39	NM_004248		17	50.430058	50.430058	24	0.414634	0	0	0	1	0	17	24	0.414634	A	120353694	G	A	120353694	3	1	50	1	0	0	0	0	1	0	0	0	12530	1116	39	1	53	1	PRLHR	10	120353694	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	14594712	120353694	15181053	19	959											
SCN8A	6334	broad.mit.edu	37	12	52082555	52082555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr12:52082555delT	ENST00000354534.6	+	6	806	c.628delT	c.(628-630)tttfs	p.F210fs	SCN8A_ENST00000545061.1_Frame_Shift_Del_p.F210fs|SCN8A_ENST00000550891.1_Intron	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	210					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TATAACAGAGTTTGTAAACCT	0.448																																						ENST00000354534.6											0			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(628-630)tttfs	sodium channel, voltage gated, type VIII, alpha subunit						176	172	174					12																	52082555		2021	4217	6238	SO:0001589	frameshift_variant	6334			axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52082555delT	AB027567	AB027567	CCDS44891.1, CCDS53794.1	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23		2012-02-26	2007-01-23			ENSG00000196876		ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	10596	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600702	600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	7670495, 9828131, 16382098	Standard	Standard	NM_014191	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	uc001ryw.4	Q9UQD0	Q9UQD0			ENST00000354534.6:c.628delT	12.37:g.52082555delT	ENSP00000346534:p.Phe210fs		SCN8A_ENST00000550891.1_Intron|SCN8A_ENST00000545061.1_Frame_Shift_Del_p.F210fs	p.F210fs	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	6	806	+					B9VWG8|O95788|Q9NYX2|Q9UPB2	Frame_Shift_Del	DEL	ENST00000354534.6	37	c.628delT	CCDS44891.1																																																																																									0.448	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	.	.	-18	-18	101	101	NM_014191		9			158	0.05						9	158	0.05	-	52082555	T	-	52082555	7	5	50	1	0	1	0	1	0	0	0	0	13924	1725	60	0	646	0	SCN8A	12	52082555	Frame_Shift_Del	DEL	T	TCGA-VD-A8KL-01A-11D-A39W-08		52082555	81769340	20	960											
SLC39A5	283375	broad.mit.edu	37	12	56625257	56625257	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr12:56625257C>A	ENST00000266980.4	+	2	492	c.199C>A	c.(199-201)Cta>Ata	p.L67I	SLC39A5_ENST00000454355.2_Missense_Mutation_p.L67I	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	67					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCCTGGGGCTAGGCCGAGT	0.637																																						ENST00000266980.4											0			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(199-201)Cta>Ata	solute carrier family 39 (zinc transporter), member 5						53	59	57					12																	56625257		2203	4300	6503	SO:0001583	missense	283375			zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56625257C>A			CCDS8912.2	CCDS8912.2	12q13.3	2013-07-17	2013-07-17		2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540	ENSG00000139540	ENSG00000139540		"Solute carriers"	"Solute carriers"	20502	20502	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608730	608730	"solute carrier family 39 (metal ion transporter), member 5"		"solute carrier family 39 (metal ion transporter), member 5"					Standard	Standard	NM_173596	NM_173596		Approved		uc010sqj.2	uc010sqj.2	Q6ZMH5	Q6ZMH5	OTTHUMG00000156962	OTTHUMG00000156962	ENST00000266980.4:c.199C>A	12.37:g.56625257C>A	ENSP00000266980:p.Leu67Ile		SLC39A5_ENST00000454355.2_Missense_Mutation_p.L67I	p.L67I	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			2	492	+			67		B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.199C>A	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854619	0.71719	.	.	ENSG00000139540	ENST00000424625;ENST00000419753;ENST00000454355;ENST00000417965;ENST00000436633;ENST00000266980;ENST00000437277	T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82	4.6	3.68	0.42216	4.6	3.68	0.42216	.	0.000000	0.41605	D	0.000848	T	0.42810	0.1219	M	0.64567	1.98	0.42150	D	0.991554	D	0.76494	0.999	D	0.78314	0.991	T	0.19712	-1.0297	10	0.16896	T	0.51	-6.2241	12.6317	0.56661	0.0:0.9109:0.0:0.0891	.	67	Q6ZMH5	S39A5_HUMAN	I	67;67;67;67;38;67;67	ENSP00000404155:L67I;ENSP00000402891:L67I;ENSP00000405360:L67I;ENSP00000414868:L67I;ENSP00000391711:L38I;ENSP00000266980:L67I;ENSP00000407399:L67I	ENSP00000266980:L67I	L	+	1	2	2	SLC39A5	54911524	54911524	0.999000	0.42202	0.997000	0.53966	0.990000	0.78478	2.565000	0.45939	2.269000	0.75478	0.561000	0.74099	CTA		0.637	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1		100.645676	-9	-9	52	52	NM_173596		35	101.168386	101.168386	49	0.416667	1	0	9.8876e-21	1	1.12609e-20	35	49	0.416667	A	56625257	C	A	56625257	3	1	50	1	0	0	0	0	1	0	0	0	14621	796	28	5	201	5	SLC39A5	12	56625257	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08	4542702	56625257	77226638	21	961											
GRIN2A	2903	broad.mit.edu	37	16	9943759	9943759	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr16:9943759C>A	ENST00000396573.2	-	6	1491	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.K394N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K394N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K394N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K237N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K394N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	394					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGGAGAAGGACTTGTACCTGG	0.582																																						ENST00000396573.2											0			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1180-1182)aaG>aaT	glutamate receptor, ionotropic, N-methyl D-aspartate 2A						134	109	118					16																	9943759		2197	4300	6497	SO:0001583	missense	0			response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943759C>A			CCDS10539.1, CCDS45407.1	CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			2012-08-29			ENSG00000183454	ENSG00000183454	ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	4585	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138253	138253		NMDAR2A		NMDAR2A		9480759	9480759	Standard	Standard	XM_005255267	XM_005255267		Approved	GluN2A	uc002czo.4	uc002czo.4	Q12879	Q12879	OTTHUMG00000129721	OTTHUMG00000129721	ENST00000396573.2:c.1182G>T	16.37:g.9943759C>A	ENSP00000379818:p.Lys394Asn		GRIN2A_ENST00000535259.1_Missense_Mutation_p.K237N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K394N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K394N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K394N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K394N	p.K394N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			6	1491	-			394		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1182G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	5.401	0.259122	0.10239	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.04194	3.68;3.68;3.68;3.68;3.68	5.22	0.552	0.17230	5.22	0.552	0.17230	.	0.208574	0.51477	D	0.000100	T	0.01222	0.0040	N	0.00801	-1.175	0.33622	D	0.604897	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.40887	-0.9539	9	.	.	.	.	4.5616	0.12163	0.0:0.3637:0.2566:0.3797	.	237;394;394	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	394;394;237;394;394	ENSP00000379818:K394N;ENSP00000385872:K394N;ENSP00000441572:K237N;ENSP00000332549:K394N;ENSP00000379820:K394N	.	K	-	3	2	2	GRIN2A	9851260	9851260	0.774000	0.28592	1.000000	0.80357	0.994000	0.84299	-0.104000	0.10923	0.595000	0.29777	0.655000	0.94253	AAG		0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		-1.745160	-17	-17	50	50			4	8.321154	8.321154	50	0.074074	1	0	0.014758	1	0.0151269	4	50	0.074074	A	9943759	C	A	9943759	3	1	50	1	0	0	0	0	1	0	0	0	6779	564	20	5	3248	5	GRIN2A	16	9943759	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08		9943759	80410994	22	962											
C16orf53	79447	broad.mit.edu	37	16	29830893	29830893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr16:29830893C>T	ENST00000320330.6	+	3	1145	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	MVP_ENST00000395353.1_5'Flank|PAGR1_ENST00000609618.1_Nonsense_Mutation_p.Q195*|MVP_ENST00000452209.2_5'Flank|AC009133.12_ENST00000569809.1_RNA|MVP_ENST00000357402.5_5'Flank|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	195						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											AGCCCGGAGCCAGAAACGGGA	0.577																																						ENST00000320330.6											0										c.(583-585)Cag>Tag	PAXIP1 associated glutamate-rich protein 1						147	162	157					16																	29830893		2197	4300	6497	SO:0001587	stop_gained	79447						g.chr16:29830893C>T	BC003640	BC003640	CCDS10655.1	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928	ENSG00000185928	ENSG00000185928				28707	28707	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"glutamate-rich coactivator interacting with SRC1/NCOA1", "PTIP-associated 1 protein", "glutamate-rich coactivator associated with SRC1"	"glutamate-rich coactivator interacting with SRC1/NCOA1", "PTIP-associated 1 protein", "glutamate-rich coactivator associated with SRC1"	612033	612033	"chromosome 16 open reading frame 53"	C16orf53	"chromosome 16 open reading frame 53"	C16orf53		17500065, 19039327	17500065, 19039327	Standard	Standard	NM_024516	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	uc002dug.4	Q9BTK6	Q9BTK6	OTTHUMG00000132117	OTTHUMG00000132117	ENST00000320330.6:c.583C>T	16.37:g.29830893C>T	ENSP00000326519:p.Gln195*		AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000569809.1_RNA|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Nonsense_Mutation_p.Q195*	p.Q195*							3	1145	+					A2ICR6	Nonsense_Mutation	SNP	ENST00000320330.6	37	c.583C>T	CCDS10655.1	.	.	.	.	.	.	.	.	.	.	C	40	8.375036	0.98784	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.306842	0.33419	N	0.004933	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-21.6467	17.5892	0.87991	0.0:1.0:0.0:0.0	.	.	.	.	X	195	.	ENSP00000326519:Q195X	Q	+	1	0	0	C16orf53	29738394	29738394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.735000	0.47377	2.767000	0.95098	0.655000	0.94253	CAG		0.577	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1		144.266208	-97	-97	193	193	NM_024516		54	151.449216	151.449216	131	0.291892	0	0	0	1	0	54	131	0.291892	T	29830893	C	T	29830893	4	4	50	1	0	0	0	0	0	1	0	0	1818	595	21	3	593	3	C16orf53	16	29830893	Nonsense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08	19887134	29830893	60523860	23	963											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		58.585534	-14	-14	67	67	NM_002067		20	59.485132	59.485132	35	0.363636	0	0	0	1	0	20	35	0.363636	T	3118942	A	T	3118942	3	4	50	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08		3118942	56010041	24	964											
ZNF341	84905	broad.mit.edu	37	20	32358081	32358081	+	Silent	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chr20:32358081G>A	ENST00000375200.1	+	10	1970	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K	ZNF341_ENST00000342427.2_Silent_p.K528K	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	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)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCCCCAAGAAGGACAATGCCG	0.647																																						ENST00000375200.1											0			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(1603-1605)aaG>aaA	zinc finger protein 341						101	75	84					20																	32358081		2203	4300	6503	SO:0001819	synonymous_variant	84905			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32358081G>A	AK027550	AK027550	CCDS13227.1, CCDS74719.1	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			2013-01-08			ENSG00000131061	ENSG00000131061	ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	15992	15992	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001282933	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	uc002wzx.3	Q9BYN7	Q9BYN7	OTTHUMG00000032275	OTTHUMG00000032275	ENST00000375200.1:c.1605G>A	20.37:g.32358081G>A			ZNF341_ENST00000342427.2_Silent_p.K528K	p.K535K	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN			10	1970	+			535		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37	c.1605G>A																																																																																										0.647	ZNF341-201	KNOWN	basic	protein_coding	protein_coding			95.146166	0	0	36	36			27	98.756422	98.756422	5	0.84375	0	0	0	1	0	27	5	0.84375	A	32358081	G	A	32358081	2	1	50	1	0	0	0	0	0	0	0	1	17854	991	35	3		3	ZNF341	20	32358081	Silent	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		32358081	30667439	25	965											
SHROOM2	357	broad.mit.edu	37	X	9864553	9864553	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chrX:9864553A>G	ENST00000380913.3	+	4	2695	c.2605A>G	c.(2605-2607)Agg>Ggg	p.R869G		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	869					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTGCCGCGGAGGCTCGGCAC	0.637																																						ENST00000380913.3											0			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(2605-2607)Agg>Ggg	shroom family member 2						22	21	21					X																	9864553		2202	4299	6501	SO:0001583	missense	357			apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9864553A>G	X83543	X83543	CCDS14135.1	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950	ENSG00000146950	ENSG00000146950				630	630	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300103	300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	7795590, 16615870	Standard	Standard	NM_001649	NM_001649		Approved		uc004csu.1	uc004csu.1	Q13796	Q13796	OTTHUMG00000021121	OTTHUMG00000021121	ENST00000380913.3:c.2605A>G	X.37:g.9864553A>G	ENSP00000370299:p.Arg869Gly			p.R869G	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	2695	+		Hepatocellular(5;0.000888)	869		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.2605A>G	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822871	0.32237	.	.	ENSG00000146950	ENST00000380913	T	0.24723	1.84	5.02	-0.581	0.11713	5.02	-0.581	0.11713	.	0.108809	0.64402	D	0.000017	T	0.43344	0.1243	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.17715	-1.0360	10	0.72032	D	0.01	-9.3072	10.1122	0.42570	0.3654:0.5241:0.0:0.1105	.	869	Q13796	SHRM2_HUMAN	G	869	ENSP00000370299:R869G	ENSP00000370299:R869G	R	+	1	2	2	SHROOM2	9824553	9824553	0.994000	0.37717	0.000000	0.03702	0.005000	0.04900	1.750000	0.38329	-0.514000	0.06488	-0.371000	0.07208	AGG		0.637	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1		8.721266	-3	-3	16	16	NM_001649		3	9.078531	9.078531	7	0.3	0	0	0	1	0	3	7	0.3	G	9864553	A	G	9864553	3	3	50	1	0	0	0	0	1	0	0	0	14294	295	11	4	2619	4	SHROOM2	23	9864553	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08		9864553	145406007	26	966											
CENPI	2491	broad.mit.edu	37	X	100357392	100357392	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	g.chrX:100357392G>A	ENST00000372927.1	+	3	633	c.356G>A	c.(355-357)gGc>gAc	p.G119D	CENPI_ENST00000372926.1_Missense_Mutation_p.G119D|CENPI_ENST00000218507.5_Missense_Mutation_p.G119D|CENPI_ENST00000423383.1_Missense_Mutation_p.G119D	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	119					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GCACTCAGTGGCAAATTTGGT	0.289																																						ENST00000372927.1											0			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(355-357)gGc>gAc	centromere protein I						95	100	98					X																	100357392		2203	4299	6502	SO:0001583	missense	2491			CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100357392G>A	X97249	X97249	CCDS14479.1	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384	ENSG00000102384	ENSG00000102384				3968	3968	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300065	300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	16622420	Standard	Standard	NM_006733	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	uc004egx.3	Q92674	Q92674	OTTHUMG00000022018	OTTHUMG00000022018	ENST00000372927.1:c.356G>A	X.37:g.100357392G>A	ENSP00000362018:p.Gly119Asp		CENPI_ENST00000218507.5_Missense_Mutation_p.G119D|CENPI_ENST00000423383.1_Missense_Mutation_p.G119D|CENPI_ENST00000372926.1_Missense_Mutation_p.G119D	p.G119D	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			3	633	+			119		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.356G>A	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355433	0.41700	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.155066	0.64402	D	0.000018	T	0.76737	0.4029	M	0.73598	2.24	0.51233	D	0.999915	D;D	0.71674	0.998;0.998	D;D	0.71414	0.973;0.973	T	0.73820	-0.3862	9	0.20519	T	0.43	-8.0103	16.1869	0.81960	0.0:0.0:1.0:0.0	.	119;119	B4DZL4;Q92674	.;CENPI_HUMAN	D	119	.	ENSP00000218507:G119D	G	+	2	0	0	CENPI	100244048	100244048	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.002000	0.76304	2.276000	0.75962	0.538000	0.68166	GGC		0.289	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1		-10.570514	-39	-39	109	109	NM_006733		4	6.353119	6.353119	75	0.050633	0	0	0	1	0	4	75	0.050633	A	100357392	G	A	100357392	3	1	50	1	0	0	0	0	1	0	0	0	3233	1203	42	2	362	2	CENPI	23	100357392	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	90492839	100357392	54913168	27	967											
PANK4	55229	broad.mit.edu	37	1	2451274	2451274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:2451274delG	ENST00000378466.3	-	6	831	c.819delC	c.(817-819)gccfs	p.A273fs	PANK4_ENST00000435556.3_Frame_Shift_Del_p.A234fs|PANK4_ENST00000491212.1_5'Flank	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	273					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGAAGCTGCTGGCGATGAGGT	0.682																																						ENST00000378466.3											0			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(817-819)gccfs	pantothenate kinase 4						18	22	21					1																	2451274		2178	4274	6452	SO:0001589	frameshift_variant	55229			coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2451274delG	AK001644	AK001644	CCDS42.1	CCDS42.1	1p36.32	2008-02-05			2008-02-05			ENSG00000157881	ENSG00000157881	ENSG00000157881	ENSG00000157881				19366	19366	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606162	606162						11479594	11479594	Standard	Standard	XR_241034	XR_241034		Approved	FLJ10782	uc001ajm.1	uc001ajm.1	Q9NVE7	Q9NVE7	OTTHUMG00000000791	OTTHUMG00000000791	ENST00000378466.3:c.819delC	1.37:g.2451274delG	ENSP00000367727:p.Ala273fs		PANK4_ENST00000435556.3_Frame_Shift_Del_p.A234fs	p.A273fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	6	831	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	273		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Frame_Shift_Del	DEL	ENST00000378466.3	37	c.819delC	CCDS42.1																																																																																									0.682	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1	.	.	3	3	11	11			2			4	0.33						2	4	0.33	-	2451274	G	-	2451274	7	5	51	1	0	1	0	1	0	0	0	0	11419	1335	47	0	1558	0	PANK4	1	2451274	Frame_Shift_Del	DEL	G	TCGA-VD-A8KM-01A-11D-A39W-08		2451274	246799347	1	968											
MACF1	23499	broad.mit.edu	37	1	39796950	39796950	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:39796950G>C	ENST00000372915.3	+	36	4792	c.4705G>C	c.(4705-4707)Ggc>Cgc	p.G1569R	MACF1_ENST00000564288.1_Missense_Mutation_p.G1564R|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G4R|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.G1601R|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1569					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATGCAAAAGGGCCTCCTTGA	0.453																																						ENST00000564288.1											0			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(4690-4692)Ggc>Cgc	microtubule-actin crosslinking factor 1						60	56	57					1																	39796950		2203	4300	6503	SO:0001583	missense	23499			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39796950G>C	AB007934	AB007934	CCDS435.1	CCDS435.1	1p32-p31	2013-01-10			2013-01-10			ENSG00000127603	ENSG00000127603	ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	"EF-hand domain containing"	13664	13664	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271	608271						7635207, 10529403	7635207, 10529403	Standard	Standard	NM_012090	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	uc031pmc.1	Q9UPN3	Q9UPN3	OTTHUMG00000007754	OTTHUMG00000007754	ENST00000372915.3:c.4705G>C	1.37:g.39796950G>C	ENSP00000362006:p.Gly1569Arg		MACF1_ENST00000567887.1_Missense_Mutation_p.G1601R|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G4R|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.G1569R	p.G1564R			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	5467	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1569		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4690G>C		.	.	.	.	.	.	.	.	.	.	G	17.67	3.447103	0.63178	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.74421	-0.84;-0.84	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000030	D	0.86707	0.5997	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86701	0.1929	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	1569	Q9UPN3	MACF1_HUMAN	R	1569;4	ENSP00000362006:G1569R;ENSP00000289893:G4R	ENSP00000289893:G4R	G	+	1	0	0	MACF1	39569537	39569537	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.750000	0.98875	2.831000	0.97527	0.650000	0.86243	GGC		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		10.855415	14	14	50	50	NM_033044		5	14.238404	14.238404	26	0.16129	0	0	0	1	0	5	26	0.16129	C	39796950	G	C	39796950	3	2	51	1	0	0	0	0	1	0	0	0	9144	1232	43	5	4781	5	MACF1	1	39796950	Missense_Mutation	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08	37345676	39796950	209453671	2	969											
HHAT	55733	broad.mit.edu	37	1	210522378	210522378	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr1:210522378A>G	ENST00000367010.1	+	2	286	c.59A>G	c.(58-60)tAt>tGt	p.Y20C	HHAT_ENST00000541565.1_Missense_Mutation_p.Y20C|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000537898.1_Missense_Mutation_p.Y20C|HHAT_ENST00000391905.3_Missense_Mutation_p.Y20C|HHAT_ENST00000261458.3_Missense_Mutation_p.Y20C|HHAT_ENST00000413764.2_Missense_Mutation_p.Y20C|HHAT_ENST00000545154.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	20					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TTCCACTTCTATTCCTTCTAT	0.493																																						ENST00000367010.1											0			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(58-60)tAt>tGt	hedgehog acyltransferase						117	100	106					1																	210522378		2203	4300	6503	SO:0001583	missense	55733			multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210522378A>G	AK001586	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			2008-02-05			ENSG00000054392	ENSG00000054392	ENSG00000054392	ENSG00000054392				18270	18270	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605743	605743						11160356	11160356	Standard	Standard	NM_001170587	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	uc009xcx.3	Q5VTY9	Q5VTY9	OTTHUMG00000036447	OTTHUMG00000036447	ENST00000367010.1:c.59A>G	1.37:g.210522378A>G	ENSP00000355977:p.Tyr20Cys		HHAT_ENST00000541565.1_Missense_Mutation_p.Y20C|HHAT_ENST00000537898.1_Missense_Mutation_p.Y20C|HHAT_ENST00000261458.3_Missense_Mutation_p.Y20C|HHAT_ENST00000391905.3_Missense_Mutation_p.Y20C|HHAT_ENST00000413764.2_Missense_Mutation_p.Y20C|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron	p.Y20C	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	2	286	+			20		B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.59A>G	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	a	17.80	3.479094	0.63849	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000537898;ENST00000391905;ENST00000261458;ENST00000367010	T;T;T;T;T;T	0.58210	2.01;0.35;1.62;1.99;2.01;2.01	5.01	3.89	0.44902	5.01	3.89	0.44902	.	0.133891	0.52532	D	0.000080	T	0.62672	0.2447	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.986;0.986;0.998	P;P;D	0.66602	0.754;0.754;0.945	T	0.61108	-0.7129	10	0.48119	T	0.1	-4.3791	7.9863	0.30213	0.9024:0.0:0.0976:0.0	.	20;20;20	B7Z4D5;B7Z5I1;Q5VTY9	.;.;HHAT_HUMAN	C	20	ENSP00000416845:Y20C;ENSP00000444995:Y20C;ENSP00000442625:Y20C;ENSP00000375773:Y20C;ENSP00000261458:Y20C;ENSP00000355977:Y20C	ENSP00000261458:Y20C	Y	+	2	0	0	HHAT	208589001	208589001	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.407000	0.52644	0.880000	0.35969	0.533000	0.62120	TAT		0.493	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1		42.399675	12	12	63	63	NM_018194		15	45.290755	45.290755	42	0.263158	0	0	0	1	0	15	42	0.263158	G	210522378	A	G	210522378	3	3	51	1	0	0	0	0	1	0	0	0	7089	449	16	4	159	4	HHAT	1	210522378	Missense_Mutation	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08	170725428	210522378	38728243	3	970											
DYSF	8291	broad.mit.edu	37	2	71755450	71755450	+	Silent	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:71755450C>T	ENST00000258104.3	+	13	1480	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	DYSF_ENST00000410041.1_Silent_p.N433N|DYSF_ENST00000409762.1_Silent_p.N432N|DYSF_ENST00000394120.2_Silent_p.N402N|DYSF_ENST00000409582.3_Silent_p.N432N|DYSF_ENST00000409366.1_Silent_p.N402N|DYSF_ENST00000429174.2_Silent_p.N401N|DYSF_ENST00000413539.2_Silent_p.N432N|DYSF_ENST00000409744.1_Silent_p.N402N|DYSF_ENST00000410020.3_Silent_p.N433N|DYSF_ENST00000409651.1_Silent_p.N433N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	401	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGATGGACAACGTGAAACAGA	0.537																																						ENST00000258104.3											0			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(1201-1203)aaC>aaT	dysferlin						128	95	106					2																	71755450		2203	4300	6503	SO:0001819	synonymous_variant	8291				cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71755450C>T	AF075575	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	ENSG00000135636	ENSG00000135636				3097	3097	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fer-1-like family member 1"	"fer-1-like family member 1"	603009	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	8320700	Standard	Standard	NM_003494	NM_003494		Approved	FER1L1	uc010fen.3	uc010fen.3	O75923	O75923	OTTHUMG00000129757	OTTHUMG00000129757	ENST00000258104.3:c.1203C>T	2.37:g.71755450C>T			DYSF_ENST00000409744.1_Silent_p.N402N|DYSF_ENST00000409582.3_Silent_p.N432N|DYSF_ENST00000429174.2_Silent_p.N401N|DYSF_ENST00000413539.2_Silent_p.N432N|DYSF_ENST00000409762.1_Silent_p.N432N|DYSF_ENST00000394120.2_Silent_p.N402N|DYSF_ENST00000409366.1_Silent_p.N402N|DYSF_ENST00000409651.1_Silent_p.N433N|DYSF_ENST00000410020.3_Silent_p.N433N|DYSF_ENST00000410041.1_Silent_p.N433N	p.N401N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			13	1480	+			401	C2 3.	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.1203C>T	CCDS1918.1																																																																																									0.537	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		10.492243	1	1	24	24	NM_003494		4	11.401236	11.401236	12	0.25	0	0	0	1	0	4	12	0.25	T	71755450	C	T	71755450	2	4	51	1	0	0	0	0	0	0	0	1	4859	535	19	1		1	DYSF	2	71755450	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		71755450	171443923	4	971											
RAB11FIP5	26056	broad.mit.edu	37	2	73316089	73316089	+	Silent	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:73316089G>A	ENST00000258098.6	-	2	1026	c.786C>T	c.(784-786)agC>agT	p.S262S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	262					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCAAGCTCCCGCTGGCTGAGG	0.647																																						ENST00000258098.6											0			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(784-786)agC>agT	RAB11 family interacting protein 5 (class I)						50	49	49					2																	73316089		2203	4300	6503	SO:0001819	synonymous_variant	26056			protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316089G>A	AF334812	AF334812	CCDS1923.1	CCDS1923.1	2p13	2008-02-05			2008-02-05			ENSG00000135631	ENSG00000135631	ENSG00000135631	ENSG00000135631				24845	24845	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605536	605536						10048485, 11163216	10048485, 11163216	Standard	Standard	NM_015470	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	uc002sis.4	Q9BXF6	Q9BXF6	OTTHUMG00000129779	OTTHUMG00000129779	ENST00000258098.6:c.786C>T	2.37:g.73316089G>A			RAB11FIP5_ENST00000493523.2_5'UTR	p.S262S	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			2	1026	-			262		O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.786C>T	CCDS1923.1																																																																																									0.647	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1		14.768037	5	5	54	54	NM_015470		8	20.497255	20.497255	43	0.156863	0	0	0	1	0	8	43	0.156863	A	73316089	G	A	73316089	2	1	51	1	0	0	0	0	0	0	0	1	12897	1078	38	1		1	RAB11FIP5	2	73316089	Silent	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08	1560639	73316089	169883284	5	972											
YSK4	80122	broad.mit.edu	37	2	135738473	135738473	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:135738473C>T	ENST00000375845.3	-	9	3868	c.3838G>A	c.(3838-3840)Gga>Aga	p.G1280R	MAP3K19_ENST00000358371.4_Missense_Mutation_p.G1167R|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G412R|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.G414R|MAP3K19_ENST00000315513.3_Missense_Mutation_p.G141R|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G462R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CGGTGTGCTCCGATGTAAAAC	0.502																																						ENST00000375845.3											0										c.(3838-3840)Gga>Aga	mitogen-activated protein kinase kinase kinase 19						64	56	59					2																	135738473		2203	4300	6503	SO:0001583	missense	80122						g.chr2:135738473C>T	AK026727	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	26249	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4	"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	12477932	Standard	Standard	NM_001282883	NM_001282883		Approved	FLJ23074	uc002tue.1	uc002tue.1	Q56UN5	Q56UN5	OTTHUMG00000074083	OTTHUMG00000074083	ENST00000375845.3:c.3838G>A	2.37:g.135738473C>T	ENSP00000365005:p.Gly1280Arg		MAP3K19_ENST00000315513.3_Missense_Mutation_p.G141R|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.G462R|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G412R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G1167R|MAP3K19_ENST00000392918.3_Missense_Mutation_p.G414R	p.G1280R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3					9	3868	-					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3838G>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824205	0.90955	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.6	5.6	0.85130	5.6	5.6	0.85130	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	0.43747	D	0.000523	T	0.69214	0.3086	N	0.20304	0.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.998;0.998;1.0	T	0.73748	-0.3885	10	0.87932	D	0	.	18.6071	0.91271	0.0:1.0:0.0:0.0	.	412;1167;414;462;1280	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	R	1280;1167;462;414;412;670;141	ENSP00000365005:G1280R;ENSP00000351140:G1167R;ENSP00000365004:G462R;ENSP00000376650:G414R;ENSP00000376649:G412R;ENSP00000392827:G670R;ENSP00000321160:G141R	ENSP00000321160:G141R	G	-	1	0	0	YSK4	135454943	135454943	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.616000	0.83018	2.629000	0.89072	0.591000	0.81541	GGA		0.502	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1		10.729494	1	1	36	36	NM_025052		6	15.42261	15.42261	34	0.15	0	0	0	1	0	6	34	0.15	T	135738473	C	T	135738473	3	4	51	1	0	0	0	0	1	0	0	0	17492	661	23	1	156	1	YSK4	2	135738473	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	62422384	135738473	107460900	6	973											
TTN	7273	broad.mit.edu	37	2	179583473	179583473	+	Missense_Mutation	SNP	C	C	T	rs397517507		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr2:179583473C>T	ENST00000591111.1	-	82	23727	c.23503G>A	c.(23503-23505)Gtt>Att	p.V7835I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6908I|TTN_ENST00000589042.1_Missense_Mutation_p.V8152I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13374	Ig-like 60.				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)			TCATTTGTAACGAGGCAAGAA	0.423																																						ENST00000589042.1											0			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						c.(24454-24456)Gtt>Att	titin						76	77	77					2																	179583473		1988	4166	6154	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583473C>T	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.23503G>A	2.37:g.179583473C>T	ENSP00000465570:p.Val7835Ile		TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6908I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7835I|TTN-AS1_ENST00000585451.1_RNA	p.V8152I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		84	24678	-			7835	Ig-like 64.	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.24454G>A		.	.	.	.	.	.	.	.	.	.	C	10.01	1.233408	0.22626	.	.	ENSG00000155657	ENST00000342992	T	0.70749	-0.51	6.01	6.01	0.97437	6.01	6.01	0.97437	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66616	0.2807	L	0.49350	1.555	0.39248	D	0.963987	B	0.16603	0.018	B	0.18263	0.021	T	0.65286	-0.6205	9	0.87932	D	0	.	13.6832	0.62499	0.0:0.9299:0.0:0.0701	.	7835	Q8WZ42	TITIN_HUMAN	I	6908	ENSP00000343764:V6908I	ENSP00000343764:V6908I	V	-	1	0	0	TTN	179291718	179291718	0.429000	0.25530	0.598000	0.28837	0.995000	0.86356	1.079000	0.30766	2.861000	0.98227	0.650000	0.86243	GTT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		28.469555	25	25	90	90	NM_133378		12	32.690766	32.690766	44	0.214286	0	0	0	1	0	12	44	0.214286	T	179583473	C	T	179583473	3	4	51	1	0	0	0	0	1	0	0	0	16732	536	19	1	80191	1	TTN	2	179583473	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	43845000	179583473	63615900	7	974											
ZNF197	10168	broad.mit.edu	37	3	44670659	44670659	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr3:44670659A>G	ENST00000396058.1	+	1	180	c.13A>G	c.(13-15)Aat>Gat	p.N5D	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.N5D|ZNF197_ENST00000383744.4_Missense_Mutation_p.N5D|ZNF197_ENST00000383745.2_Missense_Mutation_p.N5D			O14709	ZN197_HUMAN	zinc finger protein 197	5					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GACAAGAGAAAATGTAGCCCA	0.458																																						ENST00000396058.1											0			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(13-15)Aat>Gat	zinc finger protein 197						111	120	117					3																	44670659		2203	4300	6503	SO:0001583	missense	10168			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44670659A>G	AF011573	AF011573	CCDS2717.1, CCDS33743.1	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448	ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	"Zinc fingers, C2H2-type", "-", "-", "-"	12988	12988	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger protein 166"	ZNF166	"zinc finger protein 166"	ZNF166		9380504, 8353497	9380504, 8353497	Standard	Standard	XM_005264783	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	uc003cnm.3	O14709	O14709	OTTHUMG00000133089	OTTHUMG00000133089	ENST00000396058.1:c.13A>G	3.37:g.44670659A>G	ENSP00000379370:p.Asn5Asp		RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Missense_Mutation_p.N5D|ZNF197_ENST00000383745.2_Missense_Mutation_p.N5D|ZNF197_ENST00000344387.4_Missense_Mutation_p.N5D	p.N5D			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	1	180	+			5		B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.13A>G	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819714	0.71028	.	.	ENSG00000186448	ENST00000412641;ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T;T	0.10763	2.84;5.66;3.37;5.66;3.37	4.23	4.23	0.50019	4.23	4.23	0.50019	.	0.836377	0.09995	N	0.729217	T	0.14485	0.0350	N	0.08118	0	0.22389	N	0.999141	P;D	0.58268	0.877;0.982	B;D	0.67548	0.339;0.952	T	0.36114	-0.9761	10	0.48119	T	0.1	.	9.8955	0.41316	1.0:0.0:0.0:0.0	.	5;5	Q86VG0;O14709	.;ZN197_HUMAN	D	5	ENSP00000394713:N5D;ENSP00000373250:N5D;ENSP00000345809:N5D;ENSP00000373251:N5D;ENSP00000379370:N5D	ENSP00000334616:N5D	N	+	1	0	0	ZNF197	44645663	44645663	0.912000	0.30974	0.909000	0.35828	0.955000	0.61496	2.213000	0.42844	1.914000	0.55421	0.459000	0.35465	AAT		0.458	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4		46.075024	0	0	105	105	NM_006991		16	48.859775	48.859775	43	0.271186	0	0	0	1	0	16	43	0.271186	G	44670659	A	G	44670659	3	3	51	1	0	0	0	0	1	0	0	0	17756	14	1	4	15	4	ZNF197	3	44670659	Missense_Mutation	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08		44670659	153351771	8	975											
HEATR7B2	133558	broad.mit.edu	37	5	41039566	41039566	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr5:41039566delA	ENST00000399564.4	-	20	2495	c.2045delT	c.(2044-2046)ttcfs	p.F682fs	MROH2B_ENST00000506092.2_Frame_Shift_Del_p.F237fs	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	682																	TCGATTCATGAAAAACTTTTC	0.323																																						ENST00000399564.4											0										c.(2044-2046)ttcfs	maestro heat-like repeat family member 2B						46	44	45					5																	41039566		1823	4071	5894	SO:0001589	frameshift_variant	133558						g.chr5:41039566delA			CCDS47202.1	CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	"maestro heat-like repeat containing"	26857	26857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"HEAT repeat family member 7B2"	HEATR7B2	"HEAT repeat family member 7B2"	HEATR7B2		12477932	12477932	Standard	Standard	NM_173489	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	uc003jmj.4	Q7Z745	Q7Z745	OTTHUMG00000162151	OTTHUMG00000162151	ENST00000399564.4:c.2045delT	5.37:g.41039566delA	ENSP00000382476:p.Phe682fs		MROH2B_ENST00000506092.2_Frame_Shift_Del_p.F237fs	p.F682fs	NM_173489.4	NP_775760.3					20	2495	-					Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Del	DEL	ENST00000399564.4	37	c.2045delT	CCDS47202.1																																																																																									0.323	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	.	.	1	1	11	11	NM_173489		5			7	0.42						5	7	0.42	-	41039566	A	-	41039566	7	5	51	1	0	1	0	1	0	0	0	0	7035	246	9	0	2804	0	HEATR7B2	5	41039566	Frame_Shift_Del	DEL	A	TCGA-VD-A8KM-01A-11D-A39W-08		41039566	139875694	9	976											
MCHR2	84539	broad.mit.edu	37	6	100369077	100369077	+	Silent	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr6:100369077C>T	ENST00000281806.2	-	6	1076	c.762G>A	c.(760-762)ctG>ctA	p.L254L	MCHR2_ENST00000369212.2_Silent_p.L254L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCACCAGCACCAGCACCATCT	0.458																																						ENST00000281806.2											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(760-762)ctG>ctA	melanin-concentrating hormone receptor 2						207	192	197					6																	100369077		2203	4300	6503	SO:0001819	synonymous_variant	84539				integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100369077C>T	AF347063	AF347063	CCDS5044.1	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	"GPCR / Class A : MCH receptors"	20867	20867	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606111	606111	"G protein-coupled receptor 145"	GPR145	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	11355873, 11274220	Standard	Standard	NM_032503	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	uc003pqi.1	Q969V1	Q969V1	OTTHUMG00000015270	OTTHUMG00000015270	ENST00000281806.2:c.762G>A	6.37:g.100369077C>T			MCHR2_ENST00000369212.2_Silent_p.L254L	p.L254L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	6	1076	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	254		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	c.762G>A	CCDS5044.1																																																																																									0.458	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2		25.124616	2	2	114	114	NM_032503		13	33.122914	33.122914	64	0.168831	0	0	0	1	0	13	64	0.168831	T	100369077	C	T	100369077	2	4	51	1	0	0	0	0	0	0	0	1	9383	581	21	3		3	MCHR2	6	100369077	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		100369077	70745990	10	977											
VGLL2	245806	broad.mit.edu	37	6	117589488	117589488	+	Silent	SNP	A	A	C			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr6:117589488A>C	ENST00000326274.5	+	2	415	c.225A>C	c.(223-225)ccA>ccC	p.P75P	VGLL2_ENST00000352536.3_Silent_p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	75					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AAGAGCGCCCACCAGAGGCAG	0.577																																						ENST00000326274.5											0			central_nervous_system(1)|kidney(1)|lung(3)	5						c.(223-225)ccA>ccC	vestigial like 2 (Drosophila)						103	118	113					6																	117589488		2203	4300	6503	SO:0001819	synonymous_variant	245806			transcription, DNA-dependent	nucleus		g.chr6:117589488A>C	AY056583	AY056583	CCDS5114.1, CCDS5115.1	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162	ENSG00000170162	ENSG00000170162				20232	20232	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609979	609979	"vestigial like 2 (Drosophila)"		"vestigial like 2 (Drosophila)"			12376544	12376544	Standard	Standard	NM_153453	NM_153453		Approved		uc003pxn.3	uc003pxn.3	Q8N8G2	Q8N8G2	OTTHUMG00000015451	OTTHUMG00000015451	ENST00000326274.5:c.225A>C	6.37:g.117589488A>C			VGLL2_ENST00000352536.3_Silent_p.P75P	p.P75P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	2	415	+			75		Q8WWX1	Silent	SNP	ENST00000326274.5	37	c.225A>C	CCDS5115.1																																																																																									0.577	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2		-12.215597	-10	-10	160	160	NM_153453		8	7.970383	7.970383	99	0.074766	0	0	0	1	0	8	99	0.074766	C	117589488	A	C	117589488	2	2	51	1	0	0	0	0	0	0	0	1	17156	146	6	5		5	VGLL2	6	117589488	Silent	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08	17220411	117589488	53525579	11	978											
AKAP9	10142	broad.mit.edu	37	7	91659258	91659258	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr7:91659258A>G	ENST00000359028.2	+	16	4459	c.4234A>G	c.(4234-4236)Atg>Gtg	p.M1412V	AKAP9_ENST00000356239.3_Missense_Mutation_p.M1400V|AKAP9_ENST00000358100.2_Missense_Mutation_p.M1412V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1412					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGAGAACAATGTACCCTGG	0.284			T	BRAF	papillary thyroid																																	ENST00000359028.2		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(4234-4236)Atg>Gtg	A kinase (PRKA) anchor protein 9						117	125	122					7																	91659258		2203	4299	6502	SO:0001583	missense	10142			G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91659258A>G	AF091711	AF091711	CCDS5622.1	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914	ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001	604001						9482789, 10390370, 24475373	9482789, 10390370, 24475373	Standard	Standard	NM_147185	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	uc003ulg.3	Q99996	Q99996	OTTHUMG00000131127	OTTHUMG00000131127	ENST00000359028.2:c.4234A>G	7.37:g.91659258A>G	ENSP00000351922:p.Met1412Val		AKAP9_ENST00000356239.3_Missense_Mutation_p.M1400V|AKAP9_ENST00000358100.2_Missense_Mutation_p.M1412V	p.M1412V			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		16	4459	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1412		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.4234A>G		.	.	.	.	.	.	.	.	.	.	A	0.526	-0.859961	0.02610	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02631	4.22;4.22;4.22	4.2	-7.84	0.01196	4.2	-7.84	0.01196	.	1.213510	0.06130	N	0.670473	T	0.00906	0.0030	N	0.00483	-1.445	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.50083	-0.8869	10	0.02654	T	1	.	16.1099	0.81255	0.2421:0.0:0.7579:0.0	.	1412;1400;1400;1412	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	V	1400;1412;1412;1412;1412	ENSP00000348573:M1400V;ENSP00000351922:M1412V;ENSP00000350813:M1412V	ENSP00000348573:M1400V	M	+	1	0	0	AKAP9	91497194	91497194	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-1.790000	0.01759	-1.748000	0.01332	-0.361000	0.07541	ATG		0.284	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			32.736614	-4	-4	105	105	NM_005751		13	38.587643	38.587643	54	0.19403	0	0	0	1	0	13	54	0.19403	G	91659258	A	G	91659258	3	3	51	1	0	0	0	0	1	0	0	0	459	101	4	4	4256	4	AKAP9	7	91659258	Missense_Mutation	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08		91659258	67479405	12	979											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		43.167001	-28	-28	84	84	NM_002072		16	47.159472	47.159472	50	0.242424	0	0	0	1	0	16	50	0.242424	G	80409488	T	G	80409488	3	3	51	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KM-01A-11D-A39W-08		80409488	60803943	13	980											
ITPR2	3709	broad.mit.edu	37	12	26943118	26943118	+	Silent	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr12:26943118G>A	ENST00000381340.3	-	2	551	c.135C>T	c.(133-135)gaC>gaT	p.D45D	ITPR2_ENST00000242737.5_Silent_p.D45D	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	45					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGTTGGCAAGGTCCCCGGCCT	0.393																																						ENST00000381340.3											0			biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(133-135)gaC>gaT	inositol 1,4,5-trisphosphate receptor, type 2						96	94	95					12																	26943118		1899	4140	6039	SO:0001819	synonymous_variant	3709			activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26943118G>A	D26350	D26350	CCDS41764.1	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104	ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	"Ion channels / Inositol triphosphate receptors"	6181	6181	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	"cilia and flagella associated protein 48"	600144	600144	"inositol 1,4,5-triphosphate receptor, type 2"		"inositol 1,4,5-triphosphate receptor, type 2"			8081734	8081734	Standard	Standard	XM_006719064	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	uc001rhg.3	Q14571	Q14571	OTTHUMG00000169181	OTTHUMG00000169181	ENST00000381340.3:c.135C>T	12.37:g.26943118G>A			ITPR2_ENST00000242737.5_Silent_p.D45D	p.D45D	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			2	551	-	Colorectal(261;0.0847)		45		O94773	Silent	SNP	ENST00000381340.3	37	c.135C>T	CCDS41764.1																																																																																									0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		35.989786	13	13	95	95	NM_002223		15	40.876496	40.876496	53	0.220588	0	0	0	1	0	15	53	0.220588	A	26943118	G	A	26943118	2	1	51	1	0	0	0	0	0	0	0	1	7921	1252	44	3		3	ITPR2	12	26943118	Silent	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08		26943118	106908777	14	981											
TEP1	7011	ucsc.edu	37	14	20837006	20837006	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr14:20837006G>T	ENST00000262715.5	-	54	7752	c.7712C>A	c.(7711-7713)gCt>gAt	p.A2571D	TEP1_ENST00000556935.1_Missense_Mutation_p.A2463D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2571					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTCCTTCGAAGCTGTCACCAG	0.542																																																	0																	109	83	92					14																	20837006		2203	4300	6503	SO:0001583	missense	7011									CCDS9548.1	CCDS9548.1	14q11.2	2013-01-10			2013-01-10			ENSG00000129566	ENSG00000129566	ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	"WD repeat domain containing"	11726	11726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	"TROVE domain family, member 1"	601686	601686						9403057	9403057	Standard	Standard	NM_007110	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	uc001vxe.3	Q99973	Q99973	OTTHUMG00000029515	OTTHUMG00000029515	ENST00000262715.5:c.7712C>A	14.37:g.20837006G>T	ENSP00000262715:p.Ala2571Asp																	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37		CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422869	0.83559	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.65364	-0.15;-0.15	5.71	4.8	0.61643	5.71	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	M	0.72894	2.215	0.80722	D	1	D;D	0.63046	0.989;0.992	P;D	0.65443	0.892;0.935	T	0.79347	-0.1841	10	0.87932	D	0	-5.4705	13.7739	0.63041	0.0:0.1542:0.8458:0.0	.	2463;2571	G3V5X7;Q99973	.;TEP1_HUMAN	D	2571;2563;2463	ENSP00000262715:A2571D;ENSP00000452574:A2463D	ENSP00000262715:A2571D	A	-	2	0	0	TEP1	19906846	19906846	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.363000	0.52321	1.381000	0.46364	0.591000	0.81541	GCT		0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2			1	1	39	39	NM_007110		4			21							4	21		T	20837006	G	T	20837006	3	4	51	1	0	0	0	0	1	0	0	0	15756	971	34	5	179	5	TEP1	14	20837006	Missense_Mutation	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08		20837006	86512534	15	982											
WDR25	79446	broad.mit.edu	37	14	100996252	100996252	+	Silent	SNP	C	C	T	rs148470180	byFrequency	TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr14:100996252C>T	ENST00000335290.6	+	7	1735	c.1509C>T	c.(1507-1509)cgC>cgT	p.R503R	WDR25_ENST00000554998.1_Silent_p.R503R|WDR25_ENST00000542471.2_Silent_p.R246R|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.R503R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	503										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				ACAGCTTCCGCACAGCCAGCC	0.677																																						ENST00000335290.6											0			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(1507-1509)cgC>cgT	WD repeat domain 25						77	74	75					14																	100996252		2203	4300	6503	SO:0001819	synonymous_variant	79446						g.chr14:100996252C>T	BC007953	BC007953	CCDS32157.1	CCDS32157.1	14q32.32	2013-01-09			2013-01-09				ENSG00000176473		ENSG00000176473		"WD repeat domain containing"	"WD repeat domain containing"	21064	21064	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 14 open reading frame 67"	C14orf67	"chromosome 14 open reading frame 67"	C14orf67		15587985	15587985	Standard	Standard	NM_001161476	NM_001161476		Approved	MGC4645	uc001yhn.3	uc001yhn.3	Q64LD2	Q64LD2			ENST00000335290.6:c.1509C>T	14.37:g.100996252C>T			WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.R503R|WDR25_ENST00000554998.1_Silent_p.R503R|WDR25_ENST00000542471.2_Silent_p.R246R	p.R503R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			7	1735	+		Melanoma(154;0.212)	503		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	c.1509C>T	CCDS32157.1																																																																																									0.677	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1		28.535980	12	12	91	91	NM_024515		13	33.978589	33.978589	52	0.2	0	0	0	1	0	13	52	0.2	T	100996252	C	T	100996252	2	4	51	1	0	0	0	0	0	0	0	1	17279	697	25	2		2	WDR25	14	100996252	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	80159246	100996252	6353288	16	983											
DTNA	1837	broad.mit.edu	37	18	32459684	32459684	+	Splice_Site	SNP	G	G	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr18:32459684G>A	ENST00000399113.3	+	19	2081		c.e19+1		DTNA_ENST00000598334.1_Splice_Site|DTNA_ENST00000595022.1_Splice_Site|DTNA_ENST00000591182.1_Splice_Site|DTNA_ENST00000601125.1_Splice_Site|DTNA_ENST00000269190.7_Splice_Site|DTNA_ENST00000444659.1_Splice_Site|DTNA_ENST00000590831.2_Splice_Site|DTNA_ENST00000399097.3_Splice_Site|DTNA_ENST00000283365.9_Splice_Site|DTNA_ENST00000556414.3_Splice_Site|DTNA_ENST00000269192.7_Splice_Site|DTNA_ENST00000399121.5_Splice_Site|DTNA_ENST00000598142.1_Splice_Site			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha						neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTGGCGACATGTGAGTATCTT	0.423																																						ENST00000283365.9											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.e19+1	dystrobrevin, alpha						58	54	55					18																	32459684		2203	4300	6503	SO:0001630	splice_region_variant	1837			neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32459684G>A	U84540	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			2014-09-17			ENSG00000134769	ENSG00000134769	ENSG00000134769	ENSG00000134769				3057	3057	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	"dystrophin-related protein 3"	601239	601239						8081380, 15834686	8081380, 15834686	Standard	Standard	NM_001390	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	uc010dmn.1	Q9Y4J8	Q9Y4J8	OTTHUMG00000132309	OTTHUMG00000132309	ENST00000399113.3:c.2081+1G>A	18.37:g.32459684G>A			DTNA_ENST00000591182.1_Splice_Site|DTNA_ENST00000601125.1_Splice_Site|DTNA_ENST00000269190.7_Splice_Site|DTNA_ENST00000556414.3_Splice_Site|DTNA_ENST00000399121.5_Splice_Site|DTNA_ENST00000598142.1_Splice_Site|DTNA_ENST00000269192.7_Splice_Site|DTNA_ENST00000598334.1_Splice_Site|DTNA_ENST00000399113.3_Splice_Site|DTNA_ENST00000590831.2_Splice_Site|DTNA_ENST00000399097.3_Splice_Site|DTNA_ENST00000595022.1_Splice_Site|DTNA_ENST00000444659.1_Splice_Site		NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			19	2261	+					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Splice_Site	SNP	ENST00000399113.3	37		CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701312	0.30142	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	.	.	.	5.12	5.12	0.69794	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0969	0.86637	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	DTNA	30713682	30713682	1.000000	0.71417	0.953000	0.39169	0.068000	0.16541	7.003000	0.76310	2.545000	0.85829	0.655000	0.94253	.		0.423	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		20.650755	6	6	41	41	NM_001390	Intron	9	23.817959	23.817959	33	0.214286	0	0	0	1	0	9	33	0.214286	A	32459684	G	A	32459684	5	1	51	1	0	0	0	0	0	0	1	0	4788	1391	48	3	2246	3	DTNA	18	32459684	Splice_Site	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08		32459684	45617564	17	984											
CACNA1A	773	broad.mit.edu	37	19	13322958	13322958	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr19:13322958C>G	ENST00000360228.5	-	43	6261	c.6262G>C	c.(6262-6264)Ggc>Cgc	p.G2088R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G2089R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2089					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGCCCGGCCCTGGCCTTCC	0.647																																						ENST00000360228.5											0			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(6262-6264)Ggc>Cgc	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit						35	37	36					19																	13322958		2052	4194	6246	SO:0001583	missense	773			cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13322958C>G	U79666	U79666	CCDS45998.1, CCDS45999.1	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			2014-09-17			ENSG00000141837	ENSG00000141837	ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	1388	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601011	601011		CACNL1A4, SCA6, MHP1, MHP		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	8825650, 16382099, 23827678	Standard	Standard	NM_000068	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	uc010xne.2	O00555	O00555	OTTHUMG00000044590	OTTHUMG00000044590	ENST00000360228.5:c.6262G>C	19.37:g.13322958C>G	ENSP00000353362:p.Gly2088Arg		CACNA1A_ENST00000573710.2_Missense_Mutation_p.G2089R	p.G2088R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		43	6261	-			2089		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.6262G>C	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673063	0.47781	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.77750	-1.12	4.45	2.3	0.28687	4.45	2.3	0.28687	.	0.628034	0.12091	U	0.500407	T	0.82231	0.4992	M	0.78456	2.415	0.35816	D	0.82425	B;P;B;B	0.35527	0.065;0.507;0.151;0.373	B;P;B;B	0.46629	0.075;0.522;0.212;0.221	T	0.82442	-0.0455	10	0.87932	D	0	.	8.7467	0.34591	0.0:0.8061:0.0:0.1939	.	2089;2094;2088;2089	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	R	2088;2094;2089;2089	ENSP00000353362:G2088R	ENSP00000317661:G2089R	G	-	1	0	0	CACNA1A	13183958	13183958	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	3.600000	0.54052	0.325000	0.23359	-0.350000	0.07774	GGC		0.647	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		-3.415979	-8	-8	42	42	NM_000068		3	6.70543	6.70543	47	0.06	0	0	0	1	0	3	47	0.06	G	13322958	C	G	13322958	3	3	51	1	0	0	0	0	1	0	0	0	2538	623	22	5	1278	5	CACNA1A	19	13322958	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		13322958	45806025	18	985											
NWD1	284434	broad.mit.edu	37	19	16861023	16861023	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr19:16861023T>A	ENST00000552788.1	+	4	1570	c.1570T>A	c.(1570-1572)Tgg>Agg	p.W524R	NWD1_ENST00000523826.1_Missense_Mutation_p.W318R|NWD1_ENST00000339803.6_Missense_Mutation_p.W389R|NWD1_ENST00000379808.3_Missense_Mutation_p.W524R|NWD1_ENST00000524140.2_Missense_Mutation_p.W524R|NWD1_ENST00000549814.1_Missense_Mutation_p.W524R			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	524	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGATTTGCTCTGGGCCAGCCT	0.637																																						ENST00000524140.2											0			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1570-1572)Tgg>Agg	NACHT and WD repeat domain containing 1						33	34	33					19																	16861023		2202	4298	6500	SO:0001583	missense	284434					ATP binding	g.chr19:16861023T>A	BX648940	BX648940	CCDS32945.1, CCDS32945.2	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09			2013-01-09				ENSG00000188039		ENSG00000188039		"WD repeat domain containing"	"WD repeat domain containing"	27619	27619	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001007525	NM_001007525		Approved		uc002neu.4	uc002neu.4	Q149M9	Q149M9			ENST00000552788.1:c.1570T>A	19.37:g.16861023T>A	ENSP00000447224:p.Trp524Arg		NWD1_ENST00000379808.3_Missense_Mutation_p.W524R|NWD1_ENST00000339803.6_Missense_Mutation_p.W389R|NWD1_ENST00000549814.1_Missense_Mutation_p.W524R|NWD1_ENST00000552788.1_Missense_Mutation_p.W524R|NWD1_ENST00000523826.1_Missense_Mutation_p.W318R	p.W524R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1988	+			524	NACHT.	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1570T>A		.	.	.	.	.	.	.	.	.	.	t	15.34	2.805787	0.50421	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.55052	0.54;0.6;0.54;0.55;0.6;0.6	5.04	4.02	0.46733	5.04	4.02	0.46733	.	0.242048	0.35207	N	0.003377	T	0.59059	0.2166	L	0.36672	1.1	0.31585	N	0.654591	B;P;D	0.76494	0.251;0.552;0.999	B;B;D	0.85130	0.038;0.157;0.997	T	0.62714	-0.6796	10	0.48119	T	0.1	-19.6071	8.555	0.33476	0.0:0.0933:0.0:0.9067	.	524;524;389	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	R	389;524;524;524;318;524;389	ENSP00000428579:W524R;ENSP00000447548:W524R;ENSP00000369136:W524R;ENSP00000428955:W318R;ENSP00000447224:W524R;ENSP00000340159:W389R	ENSP00000340159:W389R	W	+	1	0	0	NWD1	16722023	16722023	0.984000	0.35163	0.935000	0.37517	0.659000	0.38960	1.401000	0.34589	0.780000	0.33566	0.448000	0.29417	TGG		0.637	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1		-1.610438	-9	-9	38	38	NM_001007525		3	6.608614	6.608614	40	0.069767	0	0	0	1	0	3	40	0.069767	A	16861023	T	A	16861023	3	1	51	1	0	0	0	0	1	0	0	0	10781	1580	55	5	1171	5	NWD1	19	16861023	Missense_Mutation	SNP	T	TCGA-VD-A8KM-01A-11D-A39W-08	3538065	16861023	42267960	19	986											
C20orf114	92747	broad.mit.edu	37	20	31890861	31890861	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr20:31890861C>T	ENST00000253354.1	+	11	1282	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	374					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GCCCTCCGCCCTTTGTTCACC	0.532																																						ENST00000253354.1											0										c.(1120-1122)cCt>cTt	BPI fold containing family B, member 1						109	90	96					20																	31890861		2203	4300	6503	SO:0001583	missense	92747				extracellular space	lipid binding	g.chr20:31890861C>T	BC008429	BC008429	CCDS13218.1	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999	ENSG00000125999	ENSG00000125999		"BPI fold containing"	"BPI fold containing"	16108	16108	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"	"von Ebner minor salivary gland protein"			"chromosome 20 open reading frame 114"	C20orf114	"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	11971875, 21787333	Standard	Standard	NM_033197	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	uc002wyw.1	Q8TDL5	Q8TDL5	OTTHUMG00000032252	OTTHUMG00000032252	ENST00000253354.1:c.1121C>T	20.37:g.31890861C>T	ENSP00000253354:p.Pro374Leu		BPIFB1_ENST00000464032.1_3'UTR	p.P374L	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			11	1282	+			374		A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.1121C>T	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854591	0.71719	.	.	ENSG00000125999	ENST00000253354	T	0.09163	3.01	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.091223	0.48767	D	0.000161	T	0.32194	0.0821	M	0.72894	2.215	0.43703	D	0.996166	D	0.89917	1.0	D	0.97110	1.0	T	0.01114	-1.1447	10	0.87932	D	0	-35.3612	14.2532	0.66033	0.0:1.0:0.0:0.0	.	374	Q8TDL5	BPIB1_HUMAN	L	374	ENSP00000253354:P374L	ENSP00000253354:P374L	P	+	2	0	0	BPIFB1	31354522	31354522	0.437000	0.25593	0.852000	0.33557	0.121000	0.20230	3.320000	0.51991	2.742000	0.94016	0.455000	0.32223	CCT		0.532	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2		-7.463367	-13	-13	88	88	NM_033197		4	8.883091	8.883091	73	0.051948	0	0	0	1	0	4	73	0.051948	T	31890861	C	T	31890861	3	4	51	1	0	0	0	0	1	0	0	0	2082	681	24	3	1159	3	C20orf114	20	31890861	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		31890861	31134659	20	987											
GDAP1L1	78997	broad.mit.edu	37	20	42907913	42907913	+	Silent	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chr20:42907913C>T	ENST00000342560.5	+	6	1165	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	GDAP1L1_ENST00000537864.1_Silent_p.Y167Y	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	359										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACTTTGCCTACTGGTACCTCA	0.562																																						ENST00000342560.5											0			endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18						c.(1075-1077)taC>taT	ganglioside induced differentiation associated protein 1-like 1						93	87	89					20																	42907913		2203	4300	6503	SO:0001819	synonymous_variant	78997						g.chr20:42907913C>T			CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194	ENSG00000124194	ENSG00000124194				4213	4213	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_024034	NM_024034		Approved		uc010zwl.3	uc010zwl.3	Q96MZ0	Q96MZ0	OTTHUMG00000032530	OTTHUMG00000032530	ENST00000342560.5:c.1077C>T	20.37:g.42907913C>T			GDAP1L1_ENST00000537864.1_Silent_p.Y167Y	p.Y359Y	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1165	+		Myeloproliferative disorder(115;0.0122)	359		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Silent	SNP	ENST00000342560.5	37	c.1077C>T	CCDS13328.1																																																																																									0.562	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1		32.744912	29	29	123	123	NM_024034		16	41.977211	41.977211	76	0.173913	0	0	0	1	0	16	76	0.173913	T	42907913	C	T	42907913	2	4	51	1	0	0	0	0	0	0	0	1	6308	576	20	3		3	GDAP1L1	20	42907913	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	11017052	42907913	20117607	21	988											
CLCN5	1184	broad.mit.edu	37	X	49845342	49845342	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chrX:49845342C>T	ENST00000307367.2	+	5	776	c.485C>T	c.(484-486)gCg>gTg	p.A162V	CLCN5_ENST00000376088.3_Missense_Mutation_p.A232V|CLCN5_ENST00000376091.3_Missense_Mutation_p.A232V|CLCN5_ENST00000376108.3_Missense_Mutation_p.A162V			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	162					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AAGGTGTTTGCGCCTTATGCC	0.413																																						ENST00000376088.3											0			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(694-696)gCg>gTg	chloride channel, voltage-sensitive 5						193	146	162					X																	49845342		2203	4300	6503	SO:0001583	missense	1184			excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49845342C>T	X91906	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365	ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	"Ion channels / Chloride channels : Voltage-sensitive"	2023	2023	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Dent disease"	"Dent disease"	300008	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	7874126, 8111383, 8099916, 8559248, 9602200	Standard	Standard	NM_001272102	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	uc004doq.1	P51795	P51795	OTTHUMG00000021514	OTTHUMG00000021514	ENST00000307367.2:c.485C>T	X.37:g.49845342C>T	ENSP00000304257:p.Ala162Val		CLCN5_ENST00000376091.3_Missense_Mutation_p.A232V|CLCN5_ENST00000307367.2_Missense_Mutation_p.A162V|CLCN5_ENST00000376108.3_Missense_Mutation_p.A162V	p.A232V	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			8	1336	+	Ovarian(276;0.236)		162		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.695C>T	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356618	0.95854	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.45	5.45	0.79879	5.45	5.45	0.79879	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97757	0.9264	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.983;0.991	D	0.98166	1.0449	10	0.49607	T	0.09	.	16.9775	0.86317	0.0:1.0:0.0:0.0	.	162;232	P51795;P51795-2	CLCN5_HUMAN;.	V	232;64;232;162;162	ENSP00000365256:A232V;ENSP00000365259:A232V;ENSP00000365276:A162V;ENSP00000304257:A162V	ENSP00000304257:A162V	A	+	2	0	0	CLCN5	49732082	49732082	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	7.692000	0.84203	2.270000	0.75569	0.594000	0.82650	GCG		0.413	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		-5.222240	-53	-53	61	61			3	6.829518	6.829518	54	0.052632	0	0	0	1	0	3	54	0.052632	T	49845342	C	T	49845342	3	4	51	1	0	0	0	0	1	0	0	0	3466	768	27	1	717	1	CLCN5	23	49845342	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		49845342	105425218	22	989											
RPS6KA6	27330	broad.mit.edu	37	X	83374915	83374915	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	g.chrX:83374915C>G	ENST00000262752.2	-	9	774	c.767G>C	c.(766-768)tGg>tCg	p.W256S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.W256S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	256	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATATGACCACCAATCAGCACT	0.338																																						ENST00000262752.2											0			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(766-768)tGg>tCg	ribosomal protein S6 kinase, 90kDa, polypeptide 6						82	72	75					X																	83374915		2203	4299	6502	SO:0001583	missense	27330			axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83374915C>G	AF184965	AF184965	CCDS14451.1	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133	ENSG00000072133	ENSG00000072133				10435	10435	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300303	300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"		"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	10644430	Standard	Standard	NM_014496	NM_014496		Approved	RSK4	uc004eej.2	uc004eej.2	Q9UK32	Q9UK32	OTTHUMG00000021923	OTTHUMG00000021923	ENST00000262752.2:c.767G>C	X.37:g.83374915C>G	ENSP00000262752:p.Trp256Ser		RPS6KA6_ENST00000543399.1_Missense_Mutation_p.W256S	p.W256S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			9	774	-			256	Protein kinase 1.	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.767G>C	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021606	0.75275	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.24723	1.84;1.84	5.42	5.42	0.78866	5.42	5.42	0.78866	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	0.56934	0.2019	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.63875	-0.6538	10	0.87932	D	0	.	18.2405	0.89966	0.0:1.0:0.0:0.0	.	256;256	B7ZL90;Q9UK32	.;KS6A6_HUMAN	S	256	ENSP00000262752:W256S;ENSP00000440830:W256S	ENSP00000262752:W256S	W	-	2	0	0	RPS6KA6	83261571	83261571	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.642000	0.83385	2.245000	0.73994	0.600000	0.82982	TGG		0.338	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1		73.291220	-64	-64	82	82	NM_014496		24	73.540395	73.540395	32	0.428571	0	0	0	1	0	24	32	0.428571	G	83374915	C	G	83374915	3	3	51	1	0	0	0	0	1	0	0	0	13655	595	21	5	1526	5	RPS6KA6	23	83374915	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	33529573	83374915	71895645	23	990											
LRRC42	115353	broad.mit.edu	37	1	54426038	54426038	+	Silent	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:54426038G>A	ENST00000371370.3	+	5	1136	c.615G>A	c.(613-615)caG>caA	p.Q205Q	LRRC42_ENST00000319223.4_Silent_p.Q205Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	205										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GTGTAACTCAGCTCCACCTGA	0.363																																						ENST00000371370.3											0			breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(613-615)caG>caA	leucine rich repeat containing 42						124	123	123					1																	54426038		2203	4300	6503	SO:0001819	synonymous_variant	115353						g.chr1:54426038G>A	AK075201	AK075201	CCDS585.1	CCDS585.1	1p33-p32.1	2014-02-12			2014-02-12			ENSG00000116212	ENSG00000116212	ENSG00000116212	ENSG00000116212				28792	28792	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_001256409	NM_001256409		Approved	MGC8974	uc001cwj.2	uc001cwj.2	Q9Y546	Q9Y546	OTTHUMG00000008436	OTTHUMG00000008436	ENST00000371370.3:c.615G>A	1.37:g.54426038G>A			LRRC42_ENST00000319223.4_Silent_p.Q205Q	p.Q205Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			5	1136	+			205		D3DQ46|Q8N2Q8	Silent	SNP	ENST00000371370.3	37	c.615G>A	CCDS585.1																																																																																									0.363	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1		94.442829	1	1	75	75	NM_052940		30	94.561627	94.561627	36	0.454545	0	0	0	1	0	30	36	0.454545	A	54426038	G	A	54426038	2	1	52	1	0	0	0	0	0	0	0	1	9000	962	34	2		2	LRRC42	1	54426038	Silent	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		54426038	194824583	1	991											
IVL	3713	broad.mit.edu	37	1	152883896	152883896	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:152883896G>C	ENST00000368764.3	+	2	1687	c.1623G>C	c.(1621-1623)gaG>gaC	p.E541D	IVL_ENST00000392667.2_Missense_Mutation_p.E395D			P07476	INVO_HUMAN	involucrin	541	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggcagctggagcagcCTGTGT	0.587																																						ENST00000368764.3											0			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1621-1623)gaG>gaC	involucrin						53	53	53					1																	152883896		2203	4300	6503	SO:0001583	missense	3713			isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883896G>C	BC046391	BC046391	CCDS1030.1	CCDS1030.1	1q21	2008-02-05			2008-02-05			ENSG00000163207	ENSG00000163207	ENSG00000163207	ENSG00000163207				6187	6187	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147360	147360						2873896	2873896	Standard	Standard	NM_005547	NM_005547		Approved		uc001fau.3	uc001fau.3	P07476	P07476	OTTHUMG00000012451	OTTHUMG00000012451	ENST00000368764.3:c.1623G>C	1.37:g.152883896G>C	ENSP00000357753:p.Glu541Asp		IVL_ENST00000392667.2_Missense_Mutation_p.E395D	p.E541D			P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1687	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		541	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.1623G>C	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367675	0.42003	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.18810	2.19;3.0	3.88	0.895	0.19247	3.88	0.895	0.19247	.	.	.	.	.	T	0.16938	0.0407	L	0.61218	1.895	0.24190	N	0.995553	D	0.65815	0.995	D	0.69307	0.963	T	0.10847	-1.0612	9	0.15066	T	0.55	.	5.6123	0.17412	0.1569:0.0:0.679:0.1641	.	541	P07476	INVO_HUMAN	D	541;395	ENSP00000357753:E541D;ENSP00000376435:E395D	ENSP00000357753:E541D	E	+	3	2	2	IVL	151150520	151150520	0.004000	0.15560	0.004000	0.12327	0.068000	0.16541	0.077000	0.14738	0.207000	0.20607	0.563000	0.77884	GAG		0.587	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1		22.926792	14	14	36	36	NM_005547		7	22.999517	22.999517	5	0.583333	0	0	0	1	0	7	5	0.583333	C	152883896	G	C	152883896	3	2	52	1	0	0	0	0	1	0	0	0	7929	962	34	5	1625	5	IVL	1	152883896	Missense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08	98457858	152883896	96366725	2	992											
FAM71A	149647	broad.mit.edu	37	1	212798742	212798742	+	Missense_Mutation	SNP	C	C	T	rs528047581		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:212798742C>T	ENST00000294829.3	+	1	954	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	175						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TTACCTCTTGCGGCCACCCAT	0.517													C|||	1	0.000199681	0	0	5008	,	,		22325	0		0	False		,,,				2504	0.001					ENST00000294829.3											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(523-525)Cgg>Tgg	family with sequence similarity 71, member A						108	113	112					1																	212798742		2203	4300	6503	SO:0001583	missense	149647						g.chr1:212798742C>T			CCDS1507.1	CCDS1507.1	1q32.3	2008-02-05			2008-02-05			ENSG00000162771	ENSG00000162771	ENSG00000162771	ENSG00000162771				26541	26541	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_153606	NM_153606		Approved	FLJ32796	uc010pth.1	uc010pth.1	Q8IYT1	Q8IYT1	OTTHUMG00000041084	OTTHUMG00000041084	ENST00000294829.3:c.523C>T	1.37:g.212798742C>T	ENSP00000294829:p.Arg175Trp		RP11-338C15.5_ENST00000427949.1_RNA	p.R175W	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	954	+			175		Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.523C>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	6.928	0.540844	0.13250	.	.	ENSG00000162771	ENST00000294829	T	0.26660	1.72	4.54	2.6	0.31112	4.54	2.6	0.31112	.	0.279284	0.23893	N	0.043524	T	0.46171	0.1379	M	0.84846	2.72	0.09310	N	1	D	0.61080	0.989	D	0.64237	0.923	T	0.31779	-0.9931	10	0.66056	D	0.02	-6.1149	5.4741	0.16686	0.2046:0.6922:0.0:0.1032	.	175	Q8IYT1	FA71A_HUMAN	W	175	ENSP00000294829:R175W	ENSP00000294829:R175W	R	+	1	2	2	FAM71A	210865365	210865365	0.084000	0.21492	0.004000	0.12327	0.174000	0.22865	0.277000	0.18734	0.607000	0.29982	0.563000	0.77884	CGG		0.517	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1		185.451920	-17	-17	170	170	NM_153606		61	186.184833	186.184833	83	0.423611	0	0	0	1	0	61	83	0.423611	T	212798742	C	T	212798742	3	4	52	1	0	0	0	0	1	0	0	0	5607	759	27	1	525	1	FAM71A	1	212798742	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08	59914846	212798742	36451879	3	993											
OR2L2	26246	broad.mit.edu	37	1	248201776	248201776	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr1:248201776C>G	ENST00000366479.2	+	1	303	c.207C>G	c.(205-207)gaC>gaG	p.D69E	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCCTCATTGACCTAAATTACA	0.388																																						ENST00000366479.2											0			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(205-207)gaC>gaG	olfactory receptor, family 2, subfamily L, member 2						284	260	268					1																	248201776		2203	4300	6503	SO:0001583	missense	26246			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201776C>G	X64978	X64978	CCDS31103.1	CCDS31103.1	1q44	2012-08-09			2012-08-09			ENSG00000203663	ENSG00000203663	ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8266	8266	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						OR2L4P, OR2L12		OR2L4P, OR2L12		1370859	1370859	Standard	Standard	NM_001004686	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	uc001idw.3	Q8NH16	Q8NH16	OTTHUMG00000040214	OTTHUMG00000040214	ENST00000366479.2:c.207C>G	1.37:g.248201776C>G	ENSP00000355435:p.Asp69Glu		OR2L13_ENST00000366478.2_Intron	p.D69E	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	303	+	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)		69		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.207C>G	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.250922	0.22880	.	.	ENSG00000203663	ENST00000366479	T	0.66460	-0.21	1.9	-0.286	0.12862	1.9	-0.286	0.12862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33572	U	0.004779	T	0.59155	0.2173	M	0.65677	2.01	0.09310	N	1	P	0.40553	0.721	B	0.40134	0.32	T	0.54977	-0.8212	10	0.62326	D	0.03	.	6.5569	0.22466	0.0:0.4672:0.0:0.5328	.	69	Q8NH16	OR2L2_HUMAN	E	69	ENSP00000355435:D69E	ENSP00000355435:D69E	D	+	3	2	2	OR2L2	246268399	246268399	0.000000	0.05858	0.007000	0.13788	0.159000	0.22180	-1.686000	0.01929	0.037000	0.15575	0.194000	0.17425	GAC		0.388	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1		104.711349	-19	-19	197	197	NM_001004686		34	108.56558	108.56558	78	0.303571	0	0	0	1	0	34	78	0.303571	G	248201776	C	G	248201776	3	3	52	1	0	0	0	0	1	0	0	0	11007	506	18	5	209	5	OR2L2	1	248201776	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08	35403034	248201776	1048845	4	994											
MGAT5	4249	broad.mit.edu	37	2	135107438	135107438	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr2:135107438C>T	ENST00000409645.1	+	10	1427	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	MGAT5_ENST00000281923.2_Missense_Mutation_p.A392V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	392					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCAAATTATGCCCAATCGAAA	0.413																																						ENST00000409645.1											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(1174-1176)gCc>gTc	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase						145	139	141					2																	135107438		2203	4300	6503	SO:0001583	missense	4249			post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135107438C>T	D17716	D17716	CCDS2171.1	CCDS2171.1	2q21	2013-02-25			2013-02-25			ENSG00000152127	ENSG00000152127	ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	7049	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601774	601774						8292036	8292036	Standard	Standard	NM_002410	NM_002410		Approved	GNT-V	uc002ttw.4	uc002ttw.4	Q09328	Q09328	OTTHUMG00000131681	OTTHUMG00000131681	ENST00000409645.1:c.1175C>T	2.37:g.135107438C>T	ENSP00000386377:p.Ala392Val		MGAT5_ENST00000281923.2_Missense_Mutation_p.A392V	p.A392V			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	10	1427	+			392		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1175C>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354094	0.61293	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.12	4.23	0.50019	5.12	4.23	0.50019	.	0.049024	0.85682	D	0.000000	T	0.64416	0.2596	M	0.62266	1.93	0.80722	D	1	P	0.44627	0.839	P	0.48704	0.587	T	0.69367	-0.5164	9	0.72032	D	0.01	-14.4403	15.2536	0.73568	0.1416:0.8584:0.0:0.0	.	392	Q09328	MGT5A_HUMAN	V	392	.	ENSP00000281923:A392V	A	+	2	0	0	MGAT5	134823908	134823908	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	7.772000	0.85439	1.238000	0.43771	-0.182000	0.12963	GCC		0.413	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3		-7.129610	-23	-23	84	84	NM_002410		3	6.318004	6.318004	59	0.048387	0	0	0	1	0	3	59	0.048387	T	135107438	C	T	135107438	3	4	52	1	0	0	0	0	1	0	0	0	9548	739	26	2	1209	2	MGAT5	2	135107438	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08		135107438	108091935	5	995											
OBSL1	23363	broad.mit.edu	37	2	220432798	220432798	+	Missense_Mutation	SNP	C	C	T	rs371966827		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr2:220432798C>T	ENST00000404537.1	-	2	1317	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373873.4_Missense_Mutation_p.V421M|OBSL1_ENST00000289656.3_Missense_Mutation_p.V8M|OBSL1_ENST00000373876.1_Missense_Mutation_p.V421M|OBSL1_ENST00000265318.4_Missense_Mutation_p.V421M|OBSL1_ENST00000603926.1_Missense_Mutation_p.V421M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	421	Ig-like 4.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACGTTGGCCACGGTGCGCACC	0.622											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000404537.1											0										c.(1261-1263)Gtg>Atg	obscurin-like 1						71	79	76					2																	220432798		2150	4244	6394	SO:0001583	missense	23363			cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220432798C>T	BC007201	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			2013-01-29			ENSG00000124006	ENSG00000124006	ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	29092	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610991	610991						9734811	9734811	Standard	Standard	NM_015311	NM_015311		Approved	KIAA0657	uc010fwk.3	uc010fwk.3	O75147	O75147	OTTHUMG00000059157	OTTHUMG00000059157	ENST00000404537.1:c.1261G>A	2.37:g.220432798C>T	ENSP00000385636:p.Val421Met	2266	OBSL1_ENST00000603926.1_Missense_Mutation_p.V421M|OBSL1_ENST00000289656.3_Missense_Mutation_p.V8M|OBSL1_ENST00000373876.1_Missense_Mutation_p.V421M|OBSL1_ENST00000373873.4_Missense_Mutation_p.V421M|OBSL1_ENST00000265318.4_Missense_Mutation_p.V421M	p.V421M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	2	1317	-		Renal(207;0.0376)	421	Ig-like 4.	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.1261G>A	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919854	0.73098	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.50548	3.53;3.53;3.53;3.53;0.74	5.17	5.17	0.71159	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57577	0.2063	L	0.54323	1.7	0.37490	D	0.91636	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.945;0.984	T	0.59658	-0.7413	9	0.32370	T	0.25	.	6.1951	0.20546	0.0:0.7843:0.0:0.2157	.	421;8;421	O75147;A8MSZ8;O75147-2	OBSL1_HUMAN;.;.	M	421;421;421;421;8	ENSP00000265318:V421M;ENSP00000385636:V421M;ENSP00000362983:V421M;ENSP00000362980:V421M;ENSP00000289656:V8M	ENSP00000265318:V421M	V	-	1	0	0	OBSL1	220141042	220141042	0.922000	0.31269	0.962000	0.40283	0.969000	0.65631	3.139000	0.50577	2.694000	0.91930	0.650000	0.86243	GTG		0.622	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		87.631196	-1	-1	115	115			30	88.633291	88.633291	49	0.379747	0	0	0	1	0	30	49	0.379747	T	220432798	C	T	220432798	3	4	52	1	0	0	0	0	1	0	0	0	10813	536	19	1	4661	1	OBSL1	2	220432798	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08	85325360	220432798	22766575	6	996											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		82.904633	-30	-30	82	82	NM_002072		27	84.198665	84.198665	48	0.36	0	0	0	1	0	27	48	0.36	G	80409488	T	G	80409488	3	3	52	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KN-01A-11D-A39W-08		80409488	60803943	7	997											
RPH3A	22895	broad.mit.edu	37	12	113285537	113285537	+	Silent	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr12:113285537G>A	ENST00000389385.4	+	5	617	c.120G>A	c.(118-120)caG>caA	p.Q40Q	RPH3A_ENST00000420983.2_Silent_p.Q40Q|RPH3A_ENST00000543106.2_Silent_p.Q40Q|RPH3A_ENST00000415485.3_Silent_p.Q40Q|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000551052.1_Silent_p.Q36Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	40					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCGGTGGTCAGCCTGACAGGC	0.532																																						ENST00000389385.4											0			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(118-120)caG>caA	rabphilin 3A homolog (mouse)						77	70	72					12																	113285537		2203	4300	6503	SO:0001819	synonymous_variant	22895			intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113285537G>A	AB023202	AB023202	CCDS31904.1, CCDS44979.1	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169	ENSG00000089169	ENSG00000089169		"Synaptotagmins"	"Synaptotagmins"	17056	17056	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612159	612159	"rabphilin 3A homolog (mouse)"		"rabphilin 3A homolog (mouse)"			10231032, 7822236	10231032, 7822236	Standard	Standard	NM_014954	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	uc001ttz.3	Q9Y2J0	Q9Y2J0	OTTHUMG00000169713	OTTHUMG00000169713	ENST00000389385.4:c.120G>A	12.37:g.113285537G>A			RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000543106.2_Silent_p.Q40Q|RPH3A_ENST00000551052.1_Silent_p.Q36Q|RPH3A_ENST00000415485.3_Silent_p.Q40Q|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000420983.2_Silent_p.Q40Q	p.Q40Q	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	5	617	+			40		B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	c.120G>A	CCDS44979.1																																																																																									0.532	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1		-2.949267	-23	-23	73	73	NM_014954		4	8.1917	8.1917	54	0.068966	0	0	0	1	0	4	54	0.068966	A	113285537	G	A	113285537	2	1	52	1	0	0	0	0	0	0	0	1	13551	962	34	2		2	RPH3A	12	113285537	Silent	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		113285537	20566358	8	998											
UBL3	5412	broad.mit.edu	37	13	30341440	30341440	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr13:30341440C>A	ENST00000380680.4	-	5	1451	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	102						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		CACGATTCCTCTGACCTAGGG	0.418																																						ENST00000380680.4											0			large_intestine(3)|lung(1)	4						c.(304-306)caG>caT	ubiquitin-like 3						101	86	91					13																	30341440		2203	4300	6503	SO:0001583	missense	5412				intracellular|plasma membrane		g.chr13:30341440C>A	AF044221	AF044221	CCDS9334.1	CCDS9334.1	13q12-q13	2008-07-18			2008-07-18			ENSG00000122042	ENSG00000122042	ENSG00000122042	ENSG00000122042				12504	12504	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604711	604711		PNSC1		PNSC1		10375635	10375635	Standard	Standard	NM_007106	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	uc001usp.3	O95164	O95164	OTTHUMG00000016661	OTTHUMG00000016661	ENST00000380680.4:c.306G>T	13.37:g.30341440C>A	ENSP00000370055:p.Gln102His			p.Q102H	NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)	5	1451	-		Lung SC(185;0.0281)	102		B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	c.306G>T	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803775	0.70682	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.84	2.14	0.27477	5.84	2.14	0.27477	.	0.000000	0.85682	D	0.000000	T	0.50956	0.1646	M	0.65975	2.015	0.58432	D	0.999996	P	0.46952	0.887	P	0.47118	0.538	T	0.40365	-0.9567	9	0.36615	T	0.2	-14.1466	5.9535	0.19261	0.0:0.5674:0.1296:0.303	.	102	O95164	UBL3_HUMAN	H	102	.	ENSP00000370055:Q102H	Q	-	3	2	2	UBL3	29239440	29239440	0.997000	0.39634	0.998000	0.56505	0.941000	0.58515	0.539000	0.23175	0.088000	0.17205	0.557000	0.71058	CAG		0.418	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1		-1.309407	10	10	65	65	NM_007106		3	6.373218	6.373218	38	0.073171	1	0	0.004672	1	0.004672	3	38	0.073171	A	30341440	C	A	30341440	3	1	52	1	0	0	0	0	1	0	0	0	16883	912	32	5	51	5	UBL3	13	30341440	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08		30341440	84828438	9	999											
OR4E2	26686	broad.mit.edu	37	14	22134222	22134222	+	Missense_Mutation	SNP	C	C	T	rs376029887		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr14:22134222C>T	ENST00000408935.1	+	1	926	c.926C>T	c.(925-927)aCg>aTg	p.T309M		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTTTTTCACGAAATCATAT	0.393																																						ENST00000408935.1											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(925-927)aCg>aTg	olfactory receptor, family 4, subfamily E, member 2						33	30	31					14																	22134222		1924	4142	6066	SO:0001583	missense	26686			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22134222C>T			CCDS41916.1	CCDS41916.1	14q11.2	2013-09-23			2013-09-23			ENSG00000221977	ENSG00000221977	ENSG00000221977	ENSG00000221977		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8297	8297	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001001912	NM_001001912		Approved		uc010tmd.2	uc010tmd.2	Q8NGC2	Q8NGC2	OTTHUMG00000168979	OTTHUMG00000168979	ENST00000408935.1:c.926C>T	14.37:g.22134222C>T	ENSP00000386195:p.Thr309Met			p.T309M	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	926	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	309		Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.926C>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	c	1.122	-0.655064	0.03480	.	.	ENSG00000221977	ENST00000408935	T	0.11169	2.8	5.76	0.553	0.17235	5.76	0.553	0.17235	.	.	.	.	.	T	0.06600	0.0169	N	0.19112	0.55	0.09310	N	0.999999	B	0.14805	0.011	B	0.06405	0.002	T	0.36601	-0.9741	9	0.42905	T	0.14	.	6.5188	0.22262	0.2067:0.1356:0.0:0.6577	.	309	Q8NGC2	OR4E2_HUMAN	M	309	ENSP00000386195:T309M	ENSP00000386195:T309M	T	+	2	0	0	OR4E2	21204062	21204062	0.003000	0.15002	0.163000	0.22734	0.253000	0.25986	-0.232000	0.09055	-0.079000	0.12707	-2.249000	0.00283	ACG		0.393	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1		13.367488	-2	-2	25	25			5	14.167134	14.167134	13	0.277778	0	0	0	1	0	5	13	0.277778	T	22134222	C	T	22134222	3	4	52	1	0	0	0	0	1	0	0	0	11060	536	19	1	928	1	OR4E2	14	22134222	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08		22134222	85215318	10	1000											
CEP152	22995	broad.mit.edu	37	15	49064766	49064766	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr15:49064766A>G	ENST00000380950.2	-	13	1887	c.1700T>C	c.(1699-1701)tTa>tCa	p.L567S	CEP152_ENST00000399334.3_Missense_Mutation_p.L567S|CEP152_ENST00000325747.5_Missense_Mutation_p.L474S|CEP152_ENST00000559398.1_5'UTR	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	567					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTCATTTTGTAACTGAGACAC	0.388																																						ENST00000380950.2											0			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(1699-1701)tTa>tCa	centrosomal protein 152kDa						168	153	157					15																	49064766		1902	4130	6032	SO:0001583	missense	22995			centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49064766A>G	AB020719	AB020719	CCDS42033.1, CCDS58361.1	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20			2014-02-20										29298	29298	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"asterless"	"asterless"	613529	613529	"microcephaly, primary autosomal recessive 4"	MCPH4	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	14654843, 21131973	Standard	Standard	NM_014985	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	uc001zwz.3	O94986	O94986			ENST00000380950.2:c.1700T>C	15.37:g.49064766A>G	ENSP00000370337:p.Leu567Ser		CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.L567S|CEP152_ENST00000325747.5_Missense_Mutation_p.L474S	p.L567S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	13	1887	-		all_lung(180;0.0428)	567		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1700T>C	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429259	0.83776	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.84660	-1.88;-1.88;-1.88	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	D	0.91436	0.7297	M	0.78049	2.395	0.40781	D	0.98317	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.89976	0.4097	10	0.22706	T	0.39	-9.033	14.6461	0.68762	1.0:0.0:0.0:0.0	.	474;567;567	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	S	567;474;567;567	ENSP00000370337:L567S;ENSP00000321000:L474S;ENSP00000382271:L567S	ENSP00000321000:L474S	L	-	2	0	0	CEP152	46852058	46852058	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	6.222000	0.72249	2.333000	0.79357	0.482000	0.46254	TTA		0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1		-17.857655	-19	-19	121	121	NM_014985		3	6.383278	6.383278	97	0.03	0	0	0	1	0	3	97	0.03	G	49064766	A	G	49064766	3	3	52	1	0	0	0	0	1	0	0	0	3248	372	13	4	3320	4	CEP152	15	49064766	Missense_Mutation	SNP	A	TCGA-VD-A8KN-01A-11D-A39W-08		49064766	53466626	11	1001											
CA7	766	broad.mit.edu	37	16	66887373	66887373	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr16:66887373G>C	ENST00000338437.2	+	7	876	c.767G>C	c.(766-768)cGc>cCc	p.R256P	CA7_ENST00000394069.3_Missense_Mutation_p.R200P|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	256					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	CTGAAGGGCCGCGTGGTAAAG	0.592																																						ENST00000394069.3											0			kidney(1)|large_intestine(1)|lung(4)	6						c.(598-600)cGc>cCc	carbonic anhydrase VII						42	40	41					16																	66887373		2200	4300	6500	SO:0001583	missense	766			one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr16:66887373G>C			CCDS10821.1, CCDS42173.1	CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			2008-02-05			ENSG00000168748	ENSG00000168748	ENSG00000168748	ENSG00000168748	4.2.1.1	"Carbonic anhydrases"	"Carbonic anhydrases"	1381	1381	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114770	114770						1783392	1783392	Standard	Standard	XM_005256135	XM_005256135		Approved		uc002eqi.3	uc002eqi.3	P43166	P43166	OTTHUMG00000137524	OTTHUMG00000137524	ENST00000338437.2:c.767G>C	16.37:g.66887373G>C	ENSP00000345659:p.Arg256Pro		CA7_ENST00000338437.2_Missense_Mutation_p.R256P	p.R200P	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	7	1030	+		Ovarian(137;0.0563)	256		Q541F0|Q86YU0	Missense_Mutation	SNP	ENST00000338437.2	37	c.599G>C	CCDS10821.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866597	0.72065	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	T;T	0.78707	-1.2;-1.2	5.18	4.22	0.49857	5.18	4.22	0.49857	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.105223	0.64402	D	0.000008	D	0.92492	0.7616	H	0.98769	4.325	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.94532	0.7737	10	0.87932	D	0	-8.7296	12.7996	0.57578	0.0805:0.0:0.9195:0.0	.	256	P43166	CAH7_HUMAN	P	256;200	ENSP00000345659:R256P;ENSP00000377632:R200P	ENSP00000345659:R256P	R	+	2	0	0	CA7	65444874	65444874	1.000000	0.71417	0.917000	0.36280	0.777000	0.43975	8.592000	0.90828	1.316000	0.45131	-0.258000	0.10820	CGC		0.592	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1		-0.407282	3	3	44	44			3	7.00564	7.00564	37	0.075	0	0	0	1	0	3	37	0.075	C	66887373	G	C	66887373	3	2	52	1	0	0	0	0	1	0	0	0	2522	1087	38	5	793	5	CA7	16	66887373	Missense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		66887373	23467380	12	1002											
KIAA1609	57707	broad.mit.edu	37	16	84520354	84520354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr16:84520354G>A	ENST00000343629.6	-	5	1023	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	TLDC1_ENST00000561807.1_5'Flank|TLDC1_ENST00000535580.1_Nonsense_Mutation_p.Q254*	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	281	TLD.					lysosomal membrane (GO:0005765)											CCACAGAGCTGGGAGAAGCTG	0.597																																						ENST00000343629.6											0										c.(841-843)Cag>Tag	TBC/LysM-associated domain containing 1						68	62	64					16																	84520354		2200	4300	6500	SO:0001587	stop_gained	57707						g.chr16:84520354G>A	AB046829	AB046829	CCDS32498.1	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950	ENSG00000140950	ENSG00000140950				29325	29325	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"TLD domain containing 1"	"TLD domain containing 1"			"KIAA1609"	KIAA1609	"KIAA1609"	KIAA1609		10997877	10997877	Standard	Standard	NM_020947	NM_020947		Approved		uc002fib.3	uc002fib.3	Q6P9B6	Q6P9B6	OTTHUMG00000176739	OTTHUMG00000176739	ENST00000343629.6:c.841C>T	16.37:g.84520354G>A	ENSP00000343635:p.Gln281*		TLDC1_ENST00000535580.1_Nonsense_Mutation_p.Q254*	p.Q281*	NM_020947.3	NP_065998.3					5	1023	-					Q8IZ64|Q9HCG3|Q9NTE8	Nonsense_Mutation	SNP	ENST00000343629.6	37	c.841C>T	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267690	0.97426	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	.	.	.	5.32	4.33	0.51752	5.32	4.33	0.51752	.	0.054163	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-38.7056	14.4712	0.67517	0.0:0.0:0.8529:0.1471	.	.	.	.	X	281;254	.	ENSP00000343635:Q281X	Q	-	1	0	0	KIAA1609	83077855	83077855	1.000000	0.71417	0.983000	0.44433	0.773000	0.43773	4.555000	0.60767	2.476000	0.83614	0.655000	0.94253	CAG		0.597	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1		40.637228	-15	-15	50	50	NM_020947		14	41.548009	41.548009	27	0.341463	0	0	0	1	0	14	27	0.341463	A	84520354	G	A	84520354	4	1	52	1	0	0	0	0	0	1	0	0	8247	1357	47	3	545	3	KIAA1609	16	84520354	Nonsense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08	17632981	84520354	5834399	13	1003											
MINK1	1145	broad.mit.edu	37	17	4798399	4798399	+	IGR	SNP	G	G	A			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr17:4798399G>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.D963N|MINK1_ENST00000347992.7_Missense_Mutation_p.D954N|MINK1_ENST00000355280.6_Missense_Mutation_p.D983N	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	CACTCGGCTCGACCAGCTGCA	0.602																																						ENST00000355280.6											0			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2947-2949)Gac>Aac	misshapen-like kinase 1						412	382	392					17																	4798399		2036	4176	6212	SO:0001628	intergenic_variant	50488			JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798399G>A	X66403	AY775058	CCDS11058.1	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2012-02-11	2012-02-07		2011-04-14	2010-06-24		ENSG00000108556	ENSG00000108556	ENSG00000141503	ENSG00000141503		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"		1966	17565	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	"misshapen/NIK-related kinase"	100725	609426	"cholinergic receptor, nicotinic, epsilon"		"misshapen-like kinase 1 (zebrafish)"			7688301	10708748, 12087176	Standard	Standard	NM_000080	NM_015716		Approved	ACHRE	uc002fzk.1	uc010vsl.2	Q04844	Q8N4C8	OTTHUMG00000090778			17.37:g.4798399G>A			MINK1_ENST00000347992.7_Missense_Mutation_p.D954N|MINK1_ENST00000453408.3_Missense_Mutation_p.D963N	p.D983N	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			25	3143	+			983	Mediates interaction with RAP2A.	D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.2947G>A	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737018	0.69304	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.74632	-0.84;-0.86;-0.84	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.177372	0.48767	D	0.000161	T	0.63212	0.2492	L	0.34521	1.04	0.45690	D	0.998601	B;P;B;P	0.34546	0.272;0.456;0.327;0.456	B;B;B;B	0.24701	0.055;0.034;0.015;0.034	T	0.67684	-0.5607	10	0.62326	D	0.03	.	16.0869	0.81060	0.0:0.0:1.0:0.0	.	946;963;983;954	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	N	983;963;954	ENSP00000347427:D983N;ENSP00000406487:D963N;ENSP00000269296:D954N	ENSP00000269296:D954N	D	+	1	0	0	MINK1	4739175	4739175	1.000000	0.71417	0.985000	0.45067	0.955000	0.61496	5.526000	0.67116	2.655000	0.90218	0.655000	0.94253	GAC		0.602	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3		142.805309	13	13	180	180			47	143.792463	143.792463	70	0.401709	0	0	0	1	0	47	70	0.401709	A	4798399	G	A	4798399	1	1	52	0	1	0	0	0	0	0	0	0	9587	1058	37	1		1	MINK1	17	4798399	IGR	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		4798399	76396811	14	1004											
MYO15A	51168	broad.mit.edu	37	17	18047195	18047195	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chr17:18047195G>T	ENST00000205890.5	+	28	6396	c.6058G>T	c.(6058-6060)Gcc>Tcc	p.A2020S	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2020	Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCGGGCTGGCCCAGGTGCC	0.642																																						ENST00000205890.5											0			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6058-6060)Gcc>Tcc	myosin XVA						21	25	23					17																	18047195		2062	4198	6260	SO:0001583	missense	51168			sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18047195G>T	AF144094	AF144094	CCDS42271.1	CCDS42271.1	17p11.2	2011-09-27			2011-09-27			ENSG00000091536	ENSG00000091536	ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	"Myosins / Myosin superfamily : Class XV"	7594	7594	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602666	602666		DFNB3, MYO15		DFNB3, MYO15		9603736	9603736	Standard	Standard	NM_016239	NM_016239		Approved		uc021trl.1	uc021trl.1	Q9UKN7	Q9UKN7	OTTHUMG00000059390	OTTHUMG00000059390	ENST00000205890.5:c.6058G>T	17.37:g.18047195G>T	ENSP00000205890:p.Ala2020Ser			p.A2020S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			28	6396	+	all_neural(463;0.228)		2020	Neck or regulatory domain.	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6058G>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.092	1.001985	0.19121	.	.	ENSG00000091536	ENST00000205890	D	0.87491	-2.26	4.98	-5.43	0.02632	4.98	-5.43	0.02632	.	.	.	.	.	T	0.71298	0.3323	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59663	-0.7412	9	0.08179	T	0.78	.	1.339	0.02150	0.1737:0.3149:0.2678:0.2436	.	2020	Q9UKN7	MYO15_HUMAN	S	2020	ENSP00000205890:A2020S	ENSP00000205890:A2020S	A	+	1	0	0	MYO15A	17987920	17987920	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.163000	0.09997	-1.249000	0.02500	-1.415000	0.01116	GCC		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		35.931665	6	6	17	17	NM_016239		11	36.986756	36.986756	3	0.785714	1	0	3.07112e-06	1	3.19908e-06	11	3	0.785714	T	18047195	G	T	18047195	3	4	52	1	0	0	0	0	1	0	0	0	10063	1203	42	5	6160	5	MYO15A	17	18047195	Missense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08	13248796	18047195	63148015	15	1005											
ABCD1	215	broad.mit.edu	37	X	153008790	153008790	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	g.chrX:153008790delC	ENST00000218104.3	+	9	2380	c.1981delC	c.(1981-1983)cccfs	p.P661fs	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	661	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCCACCGGCCCTCCCTGTG	0.692																																						ENST00000218104.3											0			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1981-1983)cccfs	ATP-binding cassette, sub-family D (ALD), member 1						19	16	17					X																	153008790		2186	4274	6460	SO:0001589	frameshift_variant	215			fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153008790delC	Z21876	Z21876	CCDS14728.1	CCDS14728.1	Xq28	2012-03-14			2012-03-14			ENSG00000101986	ENSG00000101986	ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	"ATP binding cassette transporters / subfamily D"	61	61	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300371	300371		ALD		ALD		8441467, 6795626	8441467, 6795626	Standard	Standard	NM_000033	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	uc004fif.2	P33897	P33897	OTTHUMG00000024215	OTTHUMG00000024215	ENST00000218104.3:c.1981delC	X.37:g.153008790delC	ENSP00000218104:p.Pro661fs		U52111.14_ENST00000434284.1_RNA	p.P661fs	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			9	2380	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		661	ABC transporter.	Q6GTZ2	Frame_Shift_Del	DEL	ENST00000218104.3	37	c.1981delC	CCDS14728.1																																																																																									0.692	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	.	.	4	4	12	12	NM_000033		2			4	0.33						2	4	0.33	-	153008790	C	-	153008790	7	5	52	1	0	1	0	1	0	0	0	0	60	739	26	0	2015	0	ABCD1	23	153008790	Frame_Shift_Del	DEL	C	TCGA-VD-A8KN-01A-11D-A39W-08		153008790	2261770	16	1006											
SFRS7	6432	broad.mit.edu	37	2	38975258	38975259	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr2:38975258_38975259delAG	ENST00000313117.6	-	5	739_740	c.502_503delCT	c.(502-504)cttfs	p.L168fs	SRSF7_ENST00000446327.2_Frame_Shift_Del_p.L168fs|SRSF7_ENST00000409276.1_Frame_Shift_Del_p.L168fs	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	168	6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGATCTACGAAGAGAGATAGAT	0.371																																						ENST00000313117.6											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(502-504)cttfs	serine/arginine-rich splicing factor 7																																			SO:0001589	frameshift_variant	6432			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38975258_38975259delAG	L41887	L41887	CCDS33183.1, CCDS56115.1	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	10789	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"SR splicing factor 7"	"SR splicing factor 7"	600572	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	8013463, 20516191	Standard	Standard	NM_001031684	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	uc002rqz.3	Q16629	Q16629	OTTHUMG00000102076	OTTHUMG00000102076	ENST00000313117.6:c.502_503delCT	2.37:g.38975262_38975263delAG	ENSP00000325905:p.Leu168fs		SRSF7_ENST00000446327.2_Frame_Shift_Del_p.L168fs|SRSF7_ENST00000409276.1_Frame_Shift_Del_p.L168fs	p.L168fs	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN			5	739_740	-			168	6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).	B4DLU6|G5E9M3|Q564D3	Frame_Shift_Del	DEL	ENST00000313117.6	37	c.502_503delCT	CCDS33183.1																																																																																									0.371	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	.	.	-25	-25	36	36	NM_001031684		9			71	0.11						9	71	0.11	-	38975259	AG	-	38975258	7	5	53	1	0	1	0	1	0	0	0	0	14182	72	3	0	229	0	SFRS7	2	38975258	Frame_Shift_Del	DEL	AG	TCGA-VD-A8KO-01A-11D-A39W-08		38975258	204224115	1	1007											
TET3	200424	broad.mit.edu	37	2	74275098	74275099	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr2:74275098_74275099delCC	ENST00000409262.3	+	1	1649_1650	c.1649_1650delCC	c.(1648-1650)tccfs	p.S550fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	550					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAATGAGGTCCCCCAGCCCCA	0.614																																						ENST00000409262.3											0			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1648-1650)tccfs	tet methylcytosine dioxygenase 3																																			SO:0001589	frameshift_variant	200424					metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74275098_74275099delCC			CCDS46339.1, CCDS46339.2	CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605	ENSG00000187605	ENSG00000187605				28313	28313	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613555	613555	"tet oncogene family member 3"		"tet oncogene family member 3"			9455477	9455477	Standard	Standard	XM_005264187	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	uc031roi.1	O43151	O43151	OTTHUMG00000152823	OTTHUMG00000152823	ENST00000409262.3:c.1649_1650delCC	2.37:g.74275100_74275101delCC	ENSP00000386869:p.Ser550fs			p.S550fs	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1649_1650	+			550		A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	ENST00000409262.3	37	c.1649_1650delCC	CCDS46339.1																																																																																									0.614	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4	.	.	-28	-28	20	20			30			30	0.5						30	30	0.5	-	74275099	CC	-	74275098	7	5	53	1	0	1	0	1	0	0	0	0	15768	855	30	0	1651	0	TET3	2	74275098	Frame_Shift_Del	DEL	CC	TCGA-VD-A8KO-01A-11D-A39W-08	35299840	74275098	168924275	2	1008											
FBLN2	2199	broad.mit.edu	37	3	13672941	13672941	+	Silent	SNP	C	C	T			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr3:13672941C>T	ENST00000295760.7	+	15	3126	c.3057C>T	c.(3055-3057)aaC>aaT	p.N1019N	FBLN2_ENST00000404922.3_Silent_p.N1066N|FBLN2_ENST00000492059.1_Silent_p.N1066N|FBLN2_ENST00000535798.1_Silent_p.N1045N	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1019	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGACGGCCAACGGGAGGTCCT	0.642																																						ENST00000404922.3											0			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3196-3198)aaC>aaT	fibulin 2						28	30	29					3																	13672941		2136	4215	6351	SO:0001819	synonymous_variant	2199				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13672941C>T	X82494	X82494	CCDS46761.1, CCDS46762.1	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			2010-06-15			ENSG00000163520	ENSG00000163520	ENSG00000163520	ENSG00000163520		"Fibulins"	"Fibulins"	3601	3601	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			135821	135821						7806230	7806230	Standard	Standard	NM_001165035	NM_001165035		Approved		uc011ava.2	uc011ava.2	P98095	P98095	OTTHUMG00000155437	OTTHUMG00000155437	ENST00000295760.7:c.3057C>T	3.37:g.13672941C>T			FBLN2_ENST00000492059.1_Silent_p.N1066N|FBLN2_ENST00000295760.7_Silent_p.N1019N|FBLN2_ENST00000535798.1_Silent_p.N1045N	p.N1066N	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		16	3317	+			1033	EGF-like 10; calcium-binding.	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.3198C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	9.957	1.221680	0.22457	.	.	ENSG00000163520	ENST00000295761	.	.	.	5.39	-0.778	0.10977	5.39	-0.778	0.10977	.	.	.	.	.	T	0.57533	0.2060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53718	-0.8399	4	.	.	.	.	10.7163	0.46015	0.0:0.3131:0.0:0.6869	.	.	.	.	M	38	.	.	T	+	2	0	0	FBLN2	13647942	13647942	0.805000	0.28982	0.992000	0.48379	0.975000	0.68041	-0.086000	0.11233	-0.049000	0.13379	0.655000	0.94253	ACG		0.642	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3		8.923121	-5	-5	8	8	NM_001004019		3	9.032827	9.032827	5	0.375	0	0	0	1	0	3	5	0.375	T	13672941	C	T	13672941	2	4	53	1	0	0	0	0	0	0	0	1	5699	535	19	1		1	FBLN2	3	13672941	Silent	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08		13672941	184349489	3	1009											
OR2B3	442184	broad.mit.edu	37	6	29054153	29054153	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr6:29054153G>T	ENST00000377173.2	-	1	937	c.873C>A	c.(871-873)agC>agA	p.S291R		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TATTTCTAAGGCTGTAGATGA	0.403																																						ENST00000377173.2											0			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						c.(871-873)agC>agA	olfactory receptor, family 2, subfamily B, member 3						77	75	76					6																	29054153		2203	4300	6503	SO:0001583	missense	442184						g.chr6:29054153G>T			CCDS34358.1	CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703	ENSG00000204703	ENSG00000204703		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8238	8238	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P	"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P				Standard	Standard	NM_001005226	NM_001005226		Approved	OR6-4	uc003nlx.3	uc003nlx.3	O76000	O76000	OTTHUMG00000031226	OTTHUMG00000031226	ENST00000377173.2:c.873C>A	6.37:g.29054153G>T	ENSP00000366378:p.Ser291Arg			p.S291R	NM_001005226.2	NP_001005226.1					1	937	-					B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.873C>A	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133853	0.37630	.	.	ENSG00000204703	ENST00000377173	T	0.39229	1.09	3.89	-1.29	0.09288	3.89	-1.29	0.09288	.	0.159316	0.28499	U	0.015139	T	0.26810	0.0656	M	0.84156	2.68	0.23581	N	0.997367	P	0.36683	0.565	B	0.38562	0.276	T	0.33111	-0.9881	10	0.87932	D	0	.	9.2439	0.37513	0.5349:0.0:0.4651:0.0	.	291	O76000	OR2B3_HUMAN	R	291	ENSP00000366378:S291R	ENSP00000366378:S291R	S	-	3	2	2	OR2B3	29162132	29162132	0.000000	0.05858	0.933000	0.37362	0.996000	0.88848	-0.137000	0.10389	-0.458000	0.07023	0.573000	0.79308	AGC		0.403	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2		23.892834	5	5	47	47			11	28.908026	28.908026	46	0.192982	1	0	4.3838e-07	1	4.58306e-07	11	46	0.192982	T	29054153	G	T	29054153	3	4	53	1	0	0	0	0	1	0	0	0	10990	1194	42	5	72	5	OR2B3	6	29054153	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		29054153	142060914	4	1010											
ACTB	60	broad.mit.edu	37	7	5568323	5568323	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr7:5568323C>T	ENST00000331789.5	-	4	582	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	131					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACGTACATGGCTGGGGTGTTG	0.587																																						ENST00000331789.5											0			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(391-393)Gcc>Acc	actin, beta						102	104	103					7																	5568323		2203	4300	6503	SO:0001583	missense	60			'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568323C>T	M28424	M28424	CCDS5341.1	CCDS5341.1	7p22	2014-09-17			2014-09-17			ENSG00000075624	ENSG00000075624	ENSG00000075624	ENSG00000075624				132	132	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			102630	102630						1505215	1505215	Standard	Standard	NM_001101	NM_001101		Approved		uc003sot.4	uc003sot.4	P60709	P60709	OTTHUMG00000023268	OTTHUMG00000023268	ENST00000331789.5:c.391G>A	7.37:g.5568323C>T	ENSP00000349960:p.Ala131Thr			p.A131T	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	4	582	-		Ovarian(82;0.0606)	131		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.391G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290822	0.59976	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713;ENST00000432588	D;D	0.96168	-3.93;-3.93	5.11	4.23	0.50019	5.11	4.23	0.50019	.	0.000000	0.64402	D	0.000011	D	0.98670	0.9554	H	0.99325	4.515	0.47949	D	0.999557	D	0.89917	1.0	D	0.97110	1.0	D	0.98559	1.0640	10	0.87932	D	0	.	11.9419	0.52905	0.0:0.914:0.0:0.086	.	131	P60709	ACTB_HUMAN	T	131;131;103;50;131	ENSP00000349960:A131T;ENSP00000407473:A131T	ENSP00000440549:A50T	A	-	1	0	0	ACTB	5534849	5534849	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	7.622000	0.83099	1.298000	0.44778	0.650000	0.86243	GCC		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4		116.700093	-30	-30	102	102	NM_001101		38	116.700093	116.700093	38	0.5	0	0	0	1	0	38	38	0.5	T	5568323	C	T	5568323	3	4	53	1	0	0	0	0	1	0	0	0	193	797	28	2	748	2	ACTB	7	5568323	Missense_Mutation	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08		5568323	153570340	5	1011											
TRAM1	23471	broad.mit.edu	37	8	71520412	71520412	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr8:71520412G>C	ENST00000262213.2	-	1	192	c.23C>G	c.(22-24)aCc>aGc	p.T8S	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000521425.1_5'Flank|TRAM1_ENST00000536748.1_Intron|RP11-382J12.1_ENST00000499227.2_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	8					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GGGGCTCTTGGTGCTTTTCTT	0.652																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000262213.2											0			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.(22-24)aCc>aGc	translocation associated membrane protein 1						70	73	72					8																	71520412		2203	4300	6503	SO:0001583	missense	23471			cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71520412G>C	X63679	X63679	CCDS6207.1	CCDS6207.1	8q13.1	2004-01-22			2004-01-22			ENSG00000067167	ENSG00000067167	ENSG00000067167	ENSG00000067167				20568	20568	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605190	605190						1315422	1315422	Standard	Standard	NM_014294	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	uc003xyo.2	Q15629	Q15629	OTTHUMG00000164428	OTTHUMG00000164428	ENST00000262213.2:c.23C>G	8.37:g.71520412G>C	ENSP00000262213:p.Thr8Ser		TRAM1_ENST00000536748.1_Intron|TRAM1_ENST00000521049.1_5'UTR	p.T8S	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		1	192	-			8		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.23C>G	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310373	0.23821	.	.	ENSG00000067167	ENST00000262213	T	0.29655	1.56	4.87	0.717	0.18196	4.87	0.717	0.18196	.	0.522337	0.20988	N	0.082088	T	0.12646	0.0307	N	0.05306	-0.075	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18209	-1.0344	10	0.16420	T	0.52	-0.1219	9.461	0.38785	0.0:0.4389:0.2492:0.3119	.	8	Q15629	TRAM1_HUMAN	S	8	ENSP00000262213:T8S	ENSP00000262213:T8S	T	-	2	0	0	TRAM1	71682966	71682966	0.973000	0.33851	0.995000	0.50966	0.983000	0.72400	0.001000	0.13038	-0.176000	0.10707	0.563000	0.77884	ACC		0.652	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1		122.381440	-35	-35	71	71	NM_014294		37	122.496738	122.496738	31	0.544118	0	0	0	1	0	37	31	0.544118	C	71520412	G	C	71520412	3	2	53	1	0	0	0	0	1	0	0	0	16448	1261	44	5	1145	5	TRAM1	8	71520412	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		71520412	74843610	6	1012											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		113.790378	-5	-5	107	107	NM_002072		36	114.008097	114.008097	45	0.444444	0	0	0	1	0	36	45	0.444444	A	80409488	T	A	80409488	3	1	53	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-A8KO-01A-11D-A39W-08		80409488	60803943	7	1013											
OLFM1	10439	ucsc.edu	37	9	138011665	138011665	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr9:138011665G>A	ENST00000371793.3	+	6	1350	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	OLFM1_ENST00000252854.4_Missense_Mutation_p.V349M|OLFM1_ENST00000371796.3_Missense_Mutation_p.V340M	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	367	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GCTGTGGGCCGTGTACGCCAC	0.627																																																	0																	77	60	66					9																	138011665		2203	4300	6503	SO:0001583	missense	10439							AF035301	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			2014-01-20			ENSG00000130558	ENSG00000130558	ENSG00000130558	ENSG00000130558				17187	17187	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"pancortin"	"pancortin"	605366	605366						9039501	9039501	Standard	Standard	NM_006334	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	uc004cfl.4	Q99784	Q99784	OTTHUMG00000020897	OTTHUMG00000020897	ENST00000371793.3:c.1099G>A	9.37:g.138011665G>A	ENSP00000360858:p.Val367Met																	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37			.	.	.	.	.	.	.	.	.	.	G	21.7	4.190584	0.78789	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.90676	-2.71;-2.71;-2.71	5.07	5.07	0.68467	5.07	5.07	0.68467	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.061993	0.64402	D	0.000004	D	0.95089	0.8409	M	0.75447	2.3	0.58432	D	0.999999	D;D	0.89917	0.989;1.0	P;D	0.74348	0.874;0.983	D	0.95612	0.8673	10	0.87932	D	0	.	18.4324	0.90630	0.0:0.0:1.0:0.0	.	367;349	Q99784;Q6IMJ8	NOE1_HUMAN;.	M	349;340;367	ENSP00000252854:V349M;ENSP00000360861:V340M;ENSP00000360858:V367M	ENSP00000252854:V349M	V	+	1	0	0	OLFM1	137151486	137151486	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.571000	0.98176	2.357000	0.79964	0.561000	0.74099	GTG		0.627	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1			-2	-2	33	33	NM_014279		4			31							4	31		A	138011665	G	A	138011665	3	1	53	1	0	0	0	0	1	0	0	0	10852	1145	40	1	1077	1	OLFM1	9	138011665	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08	57602177	138011665	3201766	8	1014											
MYBPC3	4607	broad.mit.edu	37	11	47358992	47358992	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr11:47358992G>T	ENST00000545968.1	-	25	2606	c.2552C>A	c.(2551-2553)gCc>gAc	p.A851D	MYBPC3_ENST00000399249.2_Missense_Mutation_p.A851D|MYBPC3_ENST00000256993.4_Missense_Mutation_p.A850D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	851	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CATGCCGATGGCGTTGACCGC	0.637																																						ENST00000399249.2											0			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42	GRCh37	CM054003	MYBPC3	M		c.(2551-2553)gCc>gAc	myosin binding protein C, cardiac						59	62	61					11																	47358992		2143	4234	6377	SO:0001583	missense	4607			cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47358992G>T	X84075	X84075	CCDS53621.1	CCDS53621.1	11p11.2	2014-09-17	2001-11-28		2014-09-17	2001-11-28			ENSG00000134571		ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	7551	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600958	600958	"myosin-binding protein C, cardiac"	CMH4	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	7744002, 8358441	Standard	Standard	NM_000256	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	uc021qis.1	Q14896	Q14896			ENST00000545968.1:c.2552C>A	11.37:g.47358992G>T	ENSP00000442795:p.Ala851Asp		MYBPC3_ENST00000256993.4_Missense_Mutation_p.A850D|MYBPC3_ENST00000545968.1_Missense_Mutation_p.A851D	p.A851D			Q14896	MYPC3_HUMAN		Lung(87;0.176)	24	2606	-			850	Fibronectin type-III 1.	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2552C>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671560	0.88348	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.57436	0.4;0.4;0.4	4.6	4.6	0.57074	4.6	4.6	0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67942	0.2947	L	0.54908	1.71	0.44092	D	0.996853	D	0.59357	0.985	D	0.68621	0.959	T	0.69942	-0.5008	9	0.54805	T	0.06	.	17.6256	0.88093	0.0:0.0:1.0:0.0	.	850	Q14896	MYPC3_HUMAN	D	851;851;850	ENSP00000442795:A851D;ENSP00000382193:A851D;ENSP00000256993:A850D	ENSP00000256993:A850D	A	-	2	0	0	MYBPC3	47315568	47315568	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	7.057000	0.76669	2.395000	0.81488	0.561000	0.74099	GCC		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		38.033255	-1	-1	53	53			14	39.463248	39.463248	31	0.311111	1	0	7.05477e-17	1	7.72665e-17	14	31	0.311111	T	47358992	G	T	47358992	3	4	53	1	0	0	0	0	1	0	0	0	10013	1203	42	5	1312	5	MYBPC3	11	47358992	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		47358992	87647524	9	1015											
ARAP1	116985	broad.mit.edu	37	11	72408531	72408531	+	Splice_Site	SNP	C	C	T			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr11:72408531C>T	ENST00000393609.3	-	21	2992	c.2790G>A	c.(2788-2790)agG>agA	p.R930R	ARAP1_ENST00000429686.1_Splice_Site_p.R624R|ARAP1_ENST00000359373.5_Splice_Site_p.R930R|ARAP1_ENST00000334211.8_Splice_Site_p.R685R|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Splice_Site_p.R930R|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Splice_Site_p.R685R|ARAP1_ENST00000393605.3_Splice_Site_p.R690R	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	930					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGTACAGTGTCCTGGGCCAGG	0.652																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5											0			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(2788-2790)agG>agA	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1						32	35	34					11																	72408531		2200	4292	6492	SO:0001630	splice_region_variant	116985			actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72408531C>T	AF411983	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	16925	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606646	606646	"centaurin, delta 2"	CENTD2	"centaurin, delta 2"	CENTD2				Standard	Standard	NM_001040118	NM_001040118		Approved		uc001osu.3	uc001osu.3	Q96P48	Q96P48	OTTHUMG00000157102	OTTHUMG00000157102	ENST00000393609.3:c.2790-1G>A	11.37:g.72408531C>T			ARAP1_ENST00000426523.1_Splice_Site_p.R685R|ARAP1_ENST00000334211.8_Splice_Site_p.R685R|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Splice_Site_p.R930R|ARAP1_ENST00000393609.3_Splice_Site_p.R930R|ARAP1_ENST00000429686.1_Splice_Site_p.R624R|ARAP1_ENST00000393605.3_Splice_Site_p.R690R	p.R930R			Q96P48	ARAP1_HUMAN			21	3641	-			930		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Splice_Site	SNP	ENST00000393609.3	37	c.2790G>A	CCDS41687.1																																																																																									0.652	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		51.466317	-14	-14	30	30	NM_001040118	Silent	17	51.799488	51.799488	25	0.404762	0	0	0	1	0	17	25	0.404762	T	72408531	C	T	72408531	5	4	53	1	0	0	0	0	0	0	1	0	838	869	30	3	1622	3	ARAP1	11	72408531	Splice_Site	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08	25049539	72408531	62597985	10	1016											
C15orf54	400360	broad.mit.edu	37	15	39544396	39544396	+	Silent	SNP	G	G	A			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468																																						ENST00000318578.3											1	Substitution - coding silent(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(58-60)ccG>ccA	chromosome 15 open reading frame 54						200	201	200					15																	39544396		2200	4297	6497	SO:0001819	synonymous_variant	400360						g.chr15:39544396G>A			CCDS10049.1	CCDS10049.1	15q14	2014-09-10			2014-09-10			ENSG00000175746	ENSG00000175746	ENSG00000175746	ENSG00000175746				33797	33797	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_207445	NM_207445		Approved	FLJ39531	uc001zkg.2	uc001zkg.2	Q8N8G6	Q8N8G6	OTTHUMG00000129843	OTTHUMG00000129843	ENST00000318578.3:c.60G>A	15.37:g.39544396G>A			RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P	p.P20P	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	428	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	20		B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.60G>A	CCDS10049.1																																																																																									0.468	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1		-51.958635	-12	-12	224	224	NM_207445		4	6.99861	6.99861	221	0.017778	0	0	0	1	0	4	221	0.017778	A	39544396	G	A	39544396	2	1	53	1	0	0	0	0	0	0	0	1	1802	1074	38	1		1	C15orf54	15	39544396	Silent	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		39544396	62986996	11	1017											
RAI1	10743	broad.mit.edu	37	17	17697038	17697038	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr17:17697038C>A	ENST00000353383.1	+	3	1245	c.776C>A	c.(775-777)cCg>cAg	p.P259Q	RAI1_ENST00000261641.6_Missense_Mutation_p.P259Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	259	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCCTGGCCCCGGGGCAGCGG	0.667																																						ENST00000353383.1											0			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(775-777)cCg>cAg	retinoic acid induced 1						24	31	29					17																	17697038		2155	4218	6373	SO:0001583	missense	10743				cytoplasm|nucleus	zinc ion binding	g.chr17:17697038C>A	AJ230819	AJ230819	CCDS11188.1	CCDS11188.1	17p11.2	2011-02-08			2011-02-08			ENSG00000108557	ENSG00000108557	ENSG00000108557	ENSG00000108557				9834	9834	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607642	607642	"Smith-Magenis syndrome chromosome region"	SMCR	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	10036180	Standard	Standard	NM_030665	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	uc002grm.3	Q7Z5J4	Q7Z5J4	OTTHUMG00000059314	OTTHUMG00000059314	ENST00000353383.1:c.776C>A	17.37:g.17697038C>A	ENSP00000323074:p.Pro259Gln		RAI1_ENST00000261641.6_Missense_Mutation_p.P259Q	p.P259Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1245	+			259	Gln-rich.	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.776C>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502878	0.26949	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.64991	-0.13;2.59;0.48	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.092628	0.46758	D	0.000265	T	0.73202	0.3557	L	0.45581	1.43	0.33911	D	0.639696	D	0.89917	1.0	D	0.70227	0.968	T	0.78986	-0.1987	10	0.39692	T	0.17	.	17.7786	0.88517	0.0:1.0:0.0:0.0	.	259	Q7Z5J4	RAI1_HUMAN	Q	259;259;259;259;259;236	ENSP00000323074:P259Q;ENSP00000379120:P259Q;ENSP00000261641:P259Q	ENSP00000261641:P259Q	P	+	2	0	0	RAI1	17637763	17637763	0.005000	0.15991	0.900000	0.35374	0.430000	0.31655	2.123000	0.41996	2.203000	0.70933	0.491000	0.48974	CCG		0.667	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		-3.699134	-18	-18	63	63	NM_030665		3	6.40696	6.40696	47	0.06	1	0	6.4e-05	1	6.4e-05	3	47	0.06	A	17697038	C	A	17697038	3	1	53	1	0	0	0	0	1	0	0	0	13007	652	23	5	778	5	RAI1	17	17697038	Missense_Mutation	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08		17697038	63498172	12	1018											
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2		Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0			cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg	calcium activated nucleotidase 1						184	181	182					17																	76993313		2203	4300	6503	SO:0001583	missense	124583			positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	AJ312208	CCDS11760.1	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302		ENSG00000171302				19721	19721	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165	613165						12167635	12167635	Standard	Standard	NM_138793	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	uc002jwk.3	Q8WVQ1	Q8WVQ1			ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg		CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	0	CANT1	74504908	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2		-63.718880	-33	-33	317	317	NM_138793		4	7.012107	7.012107	261	0.015094	0	0	0	1	0	4	261	0.015094	C	76993313	T	C	76993313	3	2	53	1	0	0	0	0	1	0	0	0	2617	1609	56	4	825	4	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-VD-A8KO-01A-11D-A39W-08	59296275	76993313	4201897	13	1019											
ZNF460	10794	broad.mit.edu	37	19	57803250	57803250	+	Silent	SNP	G	G	A	rs141075189		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr19:57803250G>A	ENST00000360338.3	+	3	1663	c.1341G>A	c.(1339-1341)ccG>ccA	p.P447P	ZNF460_ENST00000537645.1_Silent_p.P406P	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	447					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(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGAGAAGCCGTATGTATGCA	0.493																																						ENST00000360338.3											0			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1339-1341)ccG>ccA	zinc finger protein 460	G		2,4404	4.2+/-10.8	0,2,2201	117	103	108		1341	-2.4	0.2	19	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	ZNF460	NM_006635.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		447/563	57803250	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10794			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803250G>A	X78931	X78931	CCDS12949.1	CCDS12949.1	19q13.4	2013-01-08			2013-01-08				ENSG00000197714		ENSG00000197714		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	21628	21628	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604755	604755	"zinc finger protein 272"	ZNF272	"zinc finger protein 272"	ZNF272		15004467	15004467	Standard	Standard	NM_006635	NM_006635		Approved	HZF8	uc002qog.2	uc002qog.2	Q14592	Q14592			ENST00000360338.3:c.1341G>A	19.37:g.57803250G>A			ZNF460_ENST00000537645.1_Silent_p.P406P	p.P447P	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1663	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	447		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	c.1341G>A	CCDS12949.1																																																																																									0.493	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1		-5.822854	-22	-22	63	63	NM_006635		3	6.506952	6.506952	55	0.051724	0	0	0	1	0	3	55	0.051724	A	57803250	G	A	57803250	2	1	53	1	0	0	0	0	0	0	0	1	17921	1132	40	1		1	ZNF460	19	57803250	Silent	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		57803250	1325733	14	1020											
EIF1AX	1964	broad.mit.edu	37	X	20156735	20156737	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chrX:20156735_20156737delCTT	ENST00000379607.5	-	2	223_225	c.20_22delAAG	c.(19-24)aaagga>aga	p.7_8KG>R	snoU2_19_ENST00000364722.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|EIF1AX_ENST00000379593.1_Intron|snoU2-30_ENST00000365012.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGATGG	0.305																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(19-24)aaagga>aga	eukaryotic translation initiation factor 1A, X-linked																																			SO:0001651	inframe_deletion	1964				cytosol	translation initiation factor activity	g.chrX:20156735_20156737delCTT	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.20_22delAAG	X.37:g.20156735_20156737delCTT	ENSP00000368927:p.Lys7_Gly8delinsArg		EIF1AX_ENST00000379593.1_Intron	p.7_8KG>R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	223_225	-			7		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	In_Frame_Del	DEL	ENST00000379607.5	37	c.20_22delAAG	CCDS14196.1																																																																																									0.305	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1	.	.	-89	-89	71	71			35			2	0.95						35	2	0.95	-	20156737	CTT	-	20156735	7	5	53	1	0	1	0	1	0	0	0	0	4992	690	24	0	436	0	EIF1AX	23	20156735	In_Frame_Del	DEL	CTT	TCGA-VD-A8KO-01A-11D-A39W-08		20156735	135113825	15	1021											
ZBTB8A	653121	broad.mit.edu	37	1	33058775	33058775	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr1:33058775C>G	ENST00000373510.4	+	3	472	c.243C>G	c.(241-243)gaC>gaG	p.D81E	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.D81E|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	81	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TTATCTTGGACTTCGTATATT	0.413																																						ENST00000373510.4											0			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(241-243)gaC>gaG	zinc finger and BTB domain containing 8A						113	108	110					1																	33058775		2203	4300	6503	SO:0001583	missense	653121			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058775C>G	AF548353	AF548353	CCDS30664.1	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062	ENSG00000160062	ENSG00000160062		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24172	24172	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger and BTB domain containing 8"	ZBTB8	"zinc finger and BTB domain containing 8"	ZBTB8		12477932	12477932	Standard	Standard	NM_001040441	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	uc001bvn.3	Q96BR9	Q96BR9	OTTHUMG00000007855	OTTHUMG00000007855	ENST00000373510.4:c.243C>G	1.37:g.33058775C>G	ENSP00000362609:p.Asp81Glu		RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.D81E	p.D81E	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	472	+			81	BTB.	Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.243C>G	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640850	0.67244	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.70045	-0.45;-0.45	5.32	4.39	0.52855	5.32	4.39	0.52855	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	T	0.69940	0.3167	L	0.37630	1.12	0.43953	D	0.996624	D;D	0.89917	1.0;0.988	D;D	0.97110	1.0;0.968	T	0.64803	-0.6321	10	0.27785	T	0.31	-16.0751	9.3611	0.38197	0.0:0.8499:0.0:0.1501	.	81;81	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	E	81	ENSP00000362609:D81E;ENSP00000317561:D81E	ENSP00000317561:D81E	D	+	3	2	2	ZBTB8A	32831362	32831362	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	0.687000	0.25407	2.651000	0.90000	0.585000	0.79938	GAC		0.413	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2		0.381265	-1	-1	134	134	NM_144621		9	21.028093	21.028093	105	0.078947	0	0	0	1	0	9	105	0.078947	G	33058775	C	G	33058775	3	3	54	1	0	0	0	0	1	0	0	0	17553	564	20	5	245	5	ZBTB8A	1	33058775	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		33058775	216191846	1	1022											
NPR1	4881	broad.mit.edu	37	1	153658320	153658320	+	Silent	SNP	C	C	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr1:153658320C>T	ENST00000368680.3	+	9	2116	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	548	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	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)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCACAGAGGGCCAGTTCCAAG	0.562																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3											0			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1642-1644)ggC>ggT	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)						67	59	62					1																	153658320		2203	4300	6503	SO:0001819	synonymous_variant	4881			body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153658320C>T	BC063304	BC063304	CCDS1051.1	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418	ENSG00000169418	ENSG00000169418				7943	7943	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"guanylate cyclase A"	"guanylate cyclase A"	108960	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	1979052	Standard	Standard	NM_000906	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	uc001fcs.4	P16066	P16066	OTTHUMG00000037085	OTTHUMG00000037085	ENST00000368680.3:c.1644C>T	1.37:g.153658320C>T				p.G548G	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		9	2116	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		548	Protein kinase.	B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.1644C>T	CCDS1051.1																																																																																									0.562	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1		76.001443	-12	-12	82	82	NM_000906		27	76.717383	76.717383	42	0.391304	0	0	0	1	0	27	42	0.391304	T	153658320	C	T	153658320	2	4	54	1	0	0	0	0	0	0	0	1	10594	726	26	2		2	NPR1	1	153658320	Silent	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08	120599545	153658320	95592301	2	1023											
SLC40A1	30061	broad.mit.edu	37	2	190428516	190428516	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr2:190428516T>C	ENST00000261024.2	-	7	1622	c.1196A>G	c.(1195-1197)gAc>gGc	p.D399G		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	399					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AACGGACAAGTCCAGGGGGCT	0.428																																						ENST00000261024.2											0			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1195-1197)gAc>gGc	solute carrier family 40 (iron-regulated transporter), member 1						78	77	77					2																	190428516		2203	4300	6503	SO:0001583	missense	30061			anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428516T>C	AF215636	AF215636	CCDS2299.1	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449	ENSG00000138449	ENSG00000138449		"Solute carriers"	"Solute carriers"	10909	10909	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ferroportin 1"	"ferroportin 1"	604653	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	10828623	Standard	Standard	NM_014585	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	uc002uqp.4	Q9NP59	Q9NP59	OTTHUMG00000132662	OTTHUMG00000132662	ENST00000261024.2:c.1196A>G	2.37:g.190428516T>C	ENSP00000261024:p.Asp399Gly			p.D399G	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1622	-			399		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.1196A>G	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.931013	0.92389	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.93906	-3.31	6.02	6.02	0.97574	6.02	6.02	0.97574	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	M	0.78049	2.395	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	D	0.96125	0.9088	10	0.49607	T	0.09	-33.6668	16.542	0.84395	0.0:0.0:0.0:1.0	.	399	Q9NP59	S40A1_HUMAN	G	399;134	ENSP00000261024:D399G	ENSP00000261024:D399G	D	-	2	0	0	SLC40A1	190136761	190136761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.025000	0.88777	2.304000	0.77564	0.528000	0.53228	GAC		0.428	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2		73.833352	-11	-11	50	50			23	73.837571	73.837571	24	0.489362	0	0	0	1	0	23	24	0.489362	C	190428516	T	C	190428516	3	2	54	1	0	0	0	0	1	0	0	0	14628	1667	58	4	527	4	SLC40A1	2	190428516	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		190428516	52770857	3	1024											
TGM4	7047	broad.mit.edu	37	3	44952846	44952846	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr3:44952846A>C	ENST00000296125.4	+	13	1929	c.1861A>C	c.(1861-1863)Aag>Cag	p.K621Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	621					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GACTGACGTCAAGTTCTCTTT	0.478																																						ENST00000296125.4											0			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1861-1863)Aag>Cag	transglutaminase 4						152	142	145					3																	44952846		2203	4300	6503	SO:0001583	missense	7047			peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44952846A>C	BC007003	BC007003	CCDS2723.1	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	"Transglutaminases"	11780	11780	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600585	600585	"transglutaminase 4 (prostate)"		"transglutaminase 4 (prostate)"			7665178, 7916568	7665178, 7916568	Standard	Standard	NM_003241	NM_003241		Approved	TGP	uc003coc.4	uc003coc.4	P49221	P49221	OTTHUMG00000133096	OTTHUMG00000133096	ENST00000296125.4:c.1861A>C	3.37:g.44952846A>C	ENSP00000296125:p.Lys621Gln			p.K621Q	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	13	1929	+			621		Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1861A>C	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	A	9.577	1.122484	0.20877	.	.	ENSG00000163810	ENST00000296125	T	0.68025	-0.3	2.72	1.33	0.21861	2.72	1.33	0.21861	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.141093	0.30126	U	0.010344	T	0.47581	0.1453	L	0.33485	1.01	0.22066	N	0.999383	B	0.30973	0.302	B	0.29663	0.105	T	0.25293	-1.0136	10	0.16420	T	0.52	.	8.4649	0.32949	0.6368:0.3632:0.0:0.0	.	621	P49221	TGM4_HUMAN	Q	621	ENSP00000296125:K621Q	ENSP00000296125:K621Q	K	+	1	0	0	TGM4	44927850	44927850	0.783000	0.28701	0.226000	0.23910	0.097000	0.18754	1.203000	0.32284	0.991000	0.38814	0.460000	0.39030	AAG		0.478	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2		135.162893	-28	-28	100	100	NM_003241		41	135.607544	135.607544	55	0.427083	0	0	0	1	0	41	55	0.427083	C	44952846	A	C	44952846	3	2	54	1	0	0	0	0	1	0	0	0	15829	131	5	5	1911	5	TGM4	3	44952846	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08		44952846	153069584	4	1025											
PDIA5	10954	broad.mit.edu	37	3	122821618	122821618	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr3:122821618A>G	ENST00000316218.7	+	5	457	c.362A>G	c.(361-363)gAa>gGa	p.E121G		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	121					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTTCATACTGAATATAACCGA	0.403																																						ENST00000316218.7											0			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(361-363)gAa>gGa	protein disulfide isomerase family A, member 5						142	124	130					3																	122821618		2203	4300	6503	SO:0001583	missense	10954			cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122821618A>G	AK054963	AK054963	CCDS3020.1	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	"Protein disulfide isomerases"	24811	24811	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"protein disulfide isomerase-associated 5"		"protein disulfide isomerase-associated 5"			7556671	7556671	Standard	Standard	NM_006810	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	uc003egc.2	Q14554	Q14554	OTTHUMG00000159558	OTTHUMG00000159558	ENST00000316218.7:c.362A>G	3.37:g.122821618A>G	ENSP00000323313:p.Glu121Gly			p.E121G	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	5	457	+			121		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.362A>G	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233782	0.58886	.	.	ENSG00000065485	ENST00000316218;ENST00000484644	T	0.25085	1.82	4.97	4.97	0.65823	4.97	4.97	0.65823	Thioredoxin-like fold (1);	0.109692	0.64402	D	0.000009	T	0.26919	0.0659	L	0.48362	1.52	0.44908	D	0.99792	P	0.36162	0.54	B	0.39771	0.309	T	0.04115	-1.0976	10	0.46703	T	0.11	.	12.261	0.54651	1.0:0.0:0.0:0.0	.	121	Q14554	PDIA5_HUMAN	G	121;25	ENSP00000323313:E121G	ENSP00000323313:E121G	E	+	2	0	0	PDIA5	124304308	124304308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.695000	0.61767	2.080000	0.62538	0.460000	0.39030	GAA		0.403	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1		53.368952	14	14	68	68	NM_006810		17	53.508705	53.508705	22	0.435897	0	0	0	1	0	17	22	0.435897	G	122821618	A	G	122821618	3	3	54	1	0	0	0	0	1	0	0	0	11671	246	9	4	380	4	PDIA5	3	122821618	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08	77868772	122821618	75200812	5	1026											
SLIT2	9353	broad.mit.edu	37	4	20543158	20543158	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr4:20543158G>A	ENST00000504154.1	+	20	2311	c.2059G>A	c.(2059-2061)Gga>Aga	p.G687R	SLIT2_ENST00000503837.1_Missense_Mutation_p.G683R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G679R|SLIT2_ENST00000273739.5_Missense_Mutation_p.G691R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	687	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATTGTCACGGGAAATCCTAG	0.438																																						ENST00000504154.1											0			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2059-2061)Gga>Aga	slit homolog 2 (Drosophila)						114	103	107					4																	20543158		2203	4300	6503	SO:0001583	missense	9353			apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20543158G>A	AF055585	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147	ENSG00000145147	ENSG00000145147				11086	11086	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603746	603746	"slit (Drosophila) homolog 2"	SLIL3	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	9813312, 18269211	Standard	Standard	XM_005248211	XM_005248211		Approved	Slit-2	uc003gpr.1	uc003gpr.1	O94813	O94813	OTTHUMG00000128551	OTTHUMG00000128551	ENST00000504154.1:c.2059G>A	4.37:g.20543158G>A	ENSP00000422591:p.Gly687Arg		SLIT2_ENST00000503837.1_Missense_Mutation_p.G683R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G679R|SLIT2_ENST00000273739.5_Missense_Mutation_p.G691R	p.G687R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			20	2311	+			687	LRRCT 3.	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2059G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717663	0.89205	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80738	-1.41;-1.41;-1.34;-1.4	5.91	5.91	0.95273	5.91	5.91	0.95273	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88716	0.3226	10	0.62326	D	0.03	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	679;687	O94813-3;O94813	.;SLIT2_HUMAN	R	679;687;691;683;683	ENSP00000427548:G679R;ENSP00000422591:G687R;ENSP00000273739:G691R;ENSP00000422261:G683R	ENSP00000273739:G691R	G	+	1	0	0	SLIT2	20152256	20152256	1.000000	0.71417	0.978000	0.43139	0.909000	0.53808	9.471000	0.97696	2.794000	0.96219	0.655000	0.94253	GGA		0.438	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		-4.809987	9	9	76	76			3	6.678549	6.678549	52	0.054545	0	0	0	1	0	3	52	0.054545	A	20543158	G	A	20543158	3	1	54	1	0	0	0	0	1	0	0	0	14740	1233	43	3	2137	3	SLIT2	4	20543158	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08		20543158	170611118	6	1027											
SEL1L3	23231	broad.mit.edu	37	4	25819797	25819797	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr4:25819797G>C	ENST00000399878.3	-	9	1649	c.1527C>G	c.(1525-1527)agC>agG	p.S509R	SEL1L3_ENST00000502949.1_Missense_Mutation_p.S356R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S474R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	509						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CCTGGAACAAGCTGGGGTGTT	0.537																																						ENST00000399878.3											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1525-1527)agC>agG	sel-1 suppressor of lin-12-like 3 (C. elegans)						72	74	73					4																	25819797		1965	4159	6124	SO:0001583	missense	23231				integral to membrane	binding	g.chr4:25819797G>C	BC009945	BC009945	CCDS47037.1, CCDS75113.1	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			2009-09-24			ENSG00000091490	ENSG00000091490	ENSG00000091490	ENSG00000091490				29108	29108	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"KIAA0746 protein"	"KIAA0746 protein"								9872452	9872452	Standard	Standard	XM_005248143	XM_005248143		Approved	KIAA0746	uc003gru.4	uc003gru.4	Q68CR1	Q68CR1	OTTHUMG00000160331	OTTHUMG00000160331	ENST00000399878.3:c.1527C>G	4.37:g.25819797G>C	ENSP00000382767:p.Ser509Arg		SEL1L3_ENST00000502949.1_Missense_Mutation_p.S356R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S474R	p.S509R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			9	1649	-			509		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.1527C>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485927	0.26686	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.14391	2.7;2.72;2.51	5.95	2.91	0.33838	5.95	2.91	0.33838	.	0.523323	0.23881	N	0.043648	T	0.11239	0.0274	L	0.51422	1.61	0.09310	N	1	B	0.28552	0.215	B	0.23275	0.045	T	0.21965	-1.0230	10	0.25106	T	0.35	-7.5726	8.2079	0.31467	0.281:0.0:0.719:0.0	.	509	Q68CR1	SE1L3_HUMAN	R	509;474;356	ENSP00000382767:S509R;ENSP00000264868:S474R;ENSP00000425438:S356R	ENSP00000264868:S474R	S	-	3	2	2	SEL1L3	25428895	25428895	0.669000	0.27502	0.082000	0.20525	0.513000	0.34164	0.845000	0.27668	0.867000	0.35654	0.655000	0.94253	AGC		0.537	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1		16.175053	-3	-3	16	16	NM_015187		5	16.175053	16.175053	5	0.5	0	0	0	1	0	5	5	0.5	C	25819797	G	C	25819797	3	2	54	1	0	0	0	0	1	0	0	0	14012	962	34	5	1935	5	SEL1L3	4	25819797	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08	5276639	25819797	165334479	7	1028											
WDR41	55255	broad.mit.edu	37	5	76788029	76788029	+	Missense_Mutation	SNP	A	A	C	rs200920979		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr5:76788029A>C	ENST00000296679.4	-	1	392	c.17T>G	c.(16-18)aTc>aGc	p.I6S	WDR41_ENST00000507029.1_Missense_Mutation_p.I6S|WDR41_ENST00000414719.2_5'Flank	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	6						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GCCTCCCCCGATCAGCCATCG	0.706																																						ENST00000296679.4											0			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(16-18)aTc>aGc	WD repeat domain 41						42	45	44					5																	76788029		2203	4300	6503	SO:0001583	missense	55255						g.chr5:76788029A>C	AF115511	AF115511	CCDS4038.1	CCDS4038.1	5q14	2013-01-09			2013-01-09			ENSG00000164253	ENSG00000164253	ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	"WD repeat domain containing"	25601	25601	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_018268	NM_018268		Approved	FLJ10904	uc003kff.1	uc003kff.1	Q9HAD4	Q9HAD4	OTTHUMG00000102169	OTTHUMG00000102169	ENST00000296679.4:c.17T>G	5.37:g.76788029A>C	ENSP00000296679:p.Ile6Ser		WDR41_ENST00000507029.1_Missense_Mutation_p.I6S	p.I6S	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	1	392	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	6		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.17T>G	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.920822	0.73213	.	.	ENSG00000164253	ENST00000296679;ENST00000507029;ENST00000511791;ENST00000514559;ENST00000511036	T;T;T;T;T	0.59224	0.39;0.92;1.15;0.35;0.28	4.02	4.02	0.46733	4.02	4.02	0.46733	.	0.418213	0.25981	N	0.027077	T	0.38188	0.1031	N	0.14661	0.345	0.80722	D	1	P;B	0.45348	0.856;0.181	B;B	0.38156	0.266;0.134	T	0.46693	-0.9173	10	0.87932	D	0	-3.0539	11.6016	0.51006	1.0:0.0:0.0:0.0	.	6;6	B4DT55;Q9HAD4	.;WDR41_HUMAN	S	6	ENSP00000296679:I6S;ENSP00000424287:I6S;ENSP00000423540:I6S;ENSP00000426937:I6S;ENSP00000422510:I6S	ENSP00000296679:I6S	I	-	2	0	0	WDR41	76823785	76823785	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.877000	0.63086	1.805000	0.52779	0.374000	0.22700	ATC		0.706	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2		46.248309	-12	-12	42	42	NM_018268		14	46.277244	46.277244	16	0.466667	0	0	0	1	0	14	16	0.466667	C	76788029	A	C	76788029	3	2	54	1	0	0	0	0	1	0	0	0	17291	333	12	5	1414	5	WDR41	5	76788029	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08		76788029	104127231	8	1029											
C5orf13	9315	broad.mit.edu	37	5	111066659	111066659	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr5:111066659C>T	ENST00000379671.3	-	5	430	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	NREP_ENST00000508870.1_Missense_Mutation_p.E56K|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000447165.2_Missense_Mutation_p.E56K|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000453526.2_Missense_Mutation_p.E56K|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000455559.2_Missense_Mutation_p.E56K|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000395634.3_Missense_Mutation_p.E100K|NREP_ENST00000419114.2_Missense_Mutation_p.E56K|NREP_ENST00000450761.2_Missense_Mutation_p.E56K|NREP_ENST00000509427.1_Missense_Mutation_p.E56K|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000257435.7_Missense_Mutation_p.E56K|NREP_ENST00000446294.2_Missense_Mutation_p.E56K|NREP_ENST00000509025.1_Intron	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein	56					axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGCGGAGTTCACTGCTGCCC	0.478																																						ENST00000379671.3											0										c.(166-168)Gaa>Aaa	neuronal regeneration related protein						168	147	154					5																	111066659		2202	4300	6502	SO:0001583	missense	9315				cytoplasm		g.chr5:111066659C>T	AF119859	AF119859	CCDS4105.1, CCDS47255.1	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986	ENSG00000134986	ENSG00000134986				16834	16834	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"neuronal protein 3.1"	"neuronal protein 3.1"	607332	607332	"chromosome 5 open reading frame 13", "neuronal regeneration related protein homolog (rat)"	C5orf13	"chromosome 5 open reading frame 13", "neuronal regeneration related protein homolog (rat)"	C5orf13		8261136, 10981724, 15485502	8261136, 10981724, 15485502	Standard	Standard	NM_004772	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	uc011cvr.2	Q16612	Q16612	OTTHUMG00000128795	OTTHUMG00000128795	ENST00000379671.3:c.166G>A	5.37:g.111066659C>T	ENSP00000368993:p.Glu56Lys		NREP_ENST00000455559.2_Missense_Mutation_p.E56K|NREP_ENST00000446294.2_Missense_Mutation_p.E56K|NREP_ENST00000450761.2_Missense_Mutation_p.E56K|NREP_ENST00000509427.1_Missense_Mutation_p.E56K|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000447165.2_Missense_Mutation_p.E56K|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000395634.3_Missense_Mutation_p.E100K|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000508870.1_Missense_Mutation_p.E56K|NREP_ENST00000509025.1_Intron|NREP_ENST00000419114.2_Missense_Mutation_p.E56K|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000257435.7_Missense_Mutation_p.E56K|NREP_ENST00000453526.2_Missense_Mutation_p.E56K	p.E56K	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN			5	430	-			56		B2RDN8|B7Z5D2|D3DSZ8	Missense_Mutation	SNP	ENST00000379671.3	37	c.166G>A	CCDS4105.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635706	0.29068	.	.	ENSG00000134986	ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100	T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.455843	0.20888	N	0.083874	T	0.55226	0.1907	.	.	.	0.19300	N	0.999973	P;P;B	0.42078	0.77;0.77;0.322	P;P;B	0.48598	0.505;0.583;0.142	T	0.50268	-0.8848	9	0.38643	T	0.18	-0.6437	19.1289	0.93397	0.0:1.0:0.0:0.0	.	56;100;56	D6RIC9;B7Z5D2;Q16612	.;.;NP311_HUMAN	K	56;56;56;56;100;56;56;56;56;56;56;56	ENSP00000368993:E56K;ENSP00000257435:E56K;ENSP00000408839:E56K;ENSP00000402965:E56K;ENSP00000378996:E100K;ENSP00000416617:E56K;ENSP00000399766:E56K;ENSP00000422630:E56K;ENSP00000403383:E56K;ENSP00000392559:E56K;ENSP00000427149:E56K;ENSP00000427476:E56K	ENSP00000257435:E56K	E	-	1	0	0	C5orf13	111094558	111094558	0.349000	0.24870	0.020000	0.16555	0.948000	0.59901	3.573000	0.53856	2.523000	0.85059	0.655000	0.94253	GAA		0.478	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1		101.174741	-12	-12	65	65	NM_004772		33	101.205669	101.205669	30	0.52381	0	0	0	1	0	33	30	0.52381	T	111066659	C	T	111066659	3	4	54	1	0	0	0	0	1	0	0	0	2282	835	29	3	44	3	C5orf13	5	111066659	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08	34278630	111066659	69848601	9	1030											
LRRC16A	55604	broad.mit.edu	37	6	25500413	25500413	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr6:25500413G>C	ENST00000329474.6	+	17	1713	c.1345G>C	c.(1345-1347)Gct>Cct	p.A449P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	449					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATTGGGCCTGGCTTGTAATCA	0.428																																						ENST00000329474.6											0			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1345-1347)Gct>Cct	leucine rich repeat containing 16A						157	144	148					6																	25500413		1893	4121	6014	SO:0001583	missense	55604			actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25500413G>C	AK000055	AK000055	CCDS54973.1	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691	ENSG00000079691	ENSG00000079691				21581	21581	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	609593	"leucine rich repeat containing 16"	LRRC16	"leucine rich repeat containing 16"	LRRC16		19846667	19846667	Standard	Standard	NM_017640	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	uc011djw.2	Q5VZK9	Q5VZK9	OTTHUMG00000014393	OTTHUMG00000014393	ENST00000329474.6:c.1345G>C	6.37:g.25500413G>C	ENSP00000331983:p.Ala449Pro			p.A449P	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			17	1713	+			449		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1345G>C	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291781	0.80914	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54866	0.55	5.37	3.55	0.40652	5.37	3.55	0.40652	.	0.049679	0.85682	D	0.000000	T	0.57710	0.2072	M	0.83483	2.645	0.80722	D	1	D;D;D	0.63880	0.977;0.993;0.987	P;P;P	0.57960	0.83;0.83;0.799	T	0.63120	-0.6708	10	0.54805	T	0.06	.	10.4624	0.44587	0.0699:0.0:0.7959:0.1342	.	449;449;449	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	P	449	ENSP00000331983:A449P	ENSP00000331983:A449P	A	+	1	0	0	LRRC16A	25608392	25608392	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.410000	0.66381	0.716000	0.32124	0.563000	0.77884	GCT		0.428	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2		43.375143	9	9	39	39	NM_017640		13	43.383791	43.383791	12	0.52	0	0	0	1	0	13	12	0.52	C	25500413	G	C	25500413	3	2	54	1	0	0	0	0	1	0	0	0	8971	1203	42	5	1411	5	LRRC16A	6	25500413	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08		25500413	145614654	10	1031											
ZNF680	340252	broad.mit.edu	37	7	64004737	64004737	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr7:64004737C>T	ENST00000309683.6	-	2	255	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	ZNF680_ENST00000447137.2_Missense_Mutation_p.R35Q|ZNF680_ENST00000476563.1_Intron	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	35	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)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ATATAAATTCCGTTGTGCAGT	0.438																																						ENST00000309683.6											0			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(103-105)cGg>cAg	zinc finger protein 680						155	159	158					7																	64004737		2203	4300	6503	SO:0001583	missense	340252			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64004737C>T	AK074911	AK074911	CCDS34644.1, CCDS47594.1	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			2013-01-08			ENSG00000173041	ENSG00000173041	ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	26897	26897	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"	"hypothetical protein FLJ90430"								12477932	12477932	Standard	Standard	NM_178558	NM_178558		Approved	FLJ90430	uc003tta.2	uc003tta.2	Q8NEM1	Q8NEM1	OTTHUMG00000156542	OTTHUMG00000156542	ENST00000309683.6:c.104G>A	7.37:g.64004737C>T	ENSP00000309330:p.Arg35Gln		ZNF680_ENST00000447137.2_Missense_Mutation_p.R35Q|ZNF680_ENST00000476563.1_Intron	p.R35Q	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN			2	255	-		Lung NSC(55;0.118)|all_lung(88;0.243)	35	KRAB.	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.104G>A	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	N	0.016	-1.527136	0.00959	.	.	ENSG00000173041	ENST00000309683;ENST00000447137	T;T	0.02763	4.17;4.17	0.665	-0.96	0.10340	0.665	-0.96	0.10340	Krueppel-associated box (4);	.	.	.	.	T	0.01489	0.0048	N	0.21142	0.635	0.09310	N	1	B;B	0.29646	0.081;0.253	B;B	0.22880	0.024;0.042	T	0.45629	-0.9248	8	0.05436	T	0.98	.	.	.	.	.	35;35	Q6ZNF3;Q8NEM1	.;ZN680_HUMAN	Q	35	ENSP00000309330:R35Q;ENSP00000393506:R35Q	ENSP00000309330:R35Q	R	-	2	0	0	ZNF680	63642172	63642172	0.001000	0.12720	0.014000	0.15608	0.011000	0.07611	-0.180000	0.09754	-0.429000	0.07329	-0.350000	0.07774	CGG		0.438	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1		-13.820319	-71	-71	215	215	NM_178558		5	11.016772	11.016772	107	0.044643	0	0	0	1	0	5	107	0.044643	T	64004737	C	T	64004737	3	4	54	1	0	0	0	0	1	0	0	0	18084	652	23	1	1623	1	ZNF680	7	64004737	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		64004737	95133926	11	1032											
MYST3	7994	broad.mit.edu	37	8	41790274	41790274	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr8:41790274T>C	ENST00000396930.3	-	18	6007	c.5464A>G	c.(5464-5466)Aac>Gac	p.N1822D	KAT6A_ENST00000265713.2_Missense_Mutation_p.N1822D|KAT6A_ENST00000406337.1_Missense_Mutation_p.N1822D	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1822					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GATGTGAGGTTCATGGTAGTG	0.542																																						ENST00000396930.3											0										c.(5464-5466)Aac>Gac	K(lysine) acetyltransferase 6A						187	168	175					8																	41790274		2203	4300	6503	SO:0001583	missense	7994			histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790274T>C	U47742	U47742	CCDS6124.1	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	13013	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	"Monocytic leukemia zinc finger protein"	601408	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	8849440, 8782817	Standard	Standard	NM_001099412	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	uc003xon.4	Q92794	Q92794	OTTHUMG00000150453	OTTHUMG00000150453	ENST00000396930.3:c.5464A>G	8.37:g.41790274T>C	ENSP00000380136:p.Asn1822Asp		KAT6A_ENST00000265713.2_Missense_Mutation_p.N1822D|KAT6A_ENST00000406337.1_Missense_Mutation_p.N1822D	p.N1822D	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	6007	-			1822		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.5464A>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268958	0.23221	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.68624	-0.34;-0.34;-0.34	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.57873	0.2083	L	0.27053	0.805	0.58432	D	0.999993	P	0.52316	0.952	B	0.43194	0.411	T	0.63866	-0.6540	10	0.59425	D	0.04	-22.8583	15.9132	0.79488	0.0:0.0:0.0:1.0	.	1822	Q92794	KAT6A_HUMAN	D	1822	ENSP00000265713:N1822D;ENSP00000385888:N1822D;ENSP00000380136:N1822D	ENSP00000265713:N1822D	N	-	1	0	0	KAT6A	41909431	41909431	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.542000	0.82095	2.148000	0.66965	0.533000	0.62120	AAC		0.542	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1		93.568160	-13	-13	70	70	NM_006766		29	93.732144	93.732144	36	0.446154	0	0	0	1	0	29	36	0.446154	C	41790274	T	C	41790274	3	2	54	1	0	0	0	0	1	0	0	0	10104	1783	62	4	554	4	MYST3	8	41790274	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		41790274	104573748	12	1033											
ARHGAP39	80728	broad.mit.edu	37	8	145773633	145773634	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr8:145773633_145773634delGG	ENST00000276826.5	-	4	1037_1038	c.836_837delCC	c.(835-837)gccfs	p.A279fs	ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.A279fs|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.A279fs|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	279	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTGGGAGCTCGGCCCTCTTCAG	0.693																																						ENST00000276826.5											0			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(835-837)gccfs	Rho GTPase activating protein 39																																			SO:0001589	frameshift_variant	80728			axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773633_145773634delGG			CCDS34971.1	CCDS34971.1	8q24.3	2011-06-29			2011-06-29			ENSG00000147799	ENSG00000147799	ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	"Rho GTPase activating proteins"	29351	29351	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880	615880						15755809	15755809	Standard	Standard	XM_005272344	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	uc003zds.1	Q9C0H5	Q9C0H5	OTTHUMG00000165182	OTTHUMG00000165182	ENST00000276826.5:c.836_837delCC	8.37:g.145773633_145773634delGG	ENSP00000276826:p.Ala279fs		ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.A279fs|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.A279fs	p.A279fs			Q9C0H5	RHG39_HUMAN			4	1037_1038	-			279	Pro-rich.	B4E1I1	Frame_Shift_Del	DEL	ENST00000276826.5	37	c.836_837delCC																																																																																										0.693	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	.	.	0	0	9	9			3			5	0.38						3	5	0.38	-	145773634	GG	-	145773633	7	5	54	1	0	1	0	1	0	0	0	0	884	1103	39	0	2539	0	ARHGAP39	8	145773633	Frame_Shift_Del	DEL	GG	TCGA-VD-AA8M-01A-11D-A39W-08	103983359	145773633	590389	13	1034											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		127.249806	-21	-21	91	91	NM_002072		38	127.274374	127.274374	41	0.481013	0	0	0	1	0	38	41	0.481013	G	80409488	T	G	80409488	3	3	54	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		80409488	60803943	14	1035											
OGN	4969	broad.mit.edu	37	9	95147973	95147973	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr9:95147973G>T	ENST00000262551.4	-	7	1246	c.826C>A	c.(826-828)Cca>Aca	p.P276T	OGN_ENST00000375561.5_Missense_Mutation_p.P276T|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	276					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGGACGATTGGATTGCCCTCC	0.403																																						ENST00000262551.4											0			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(826-828)Cca>Aca	osteoglycin						147	139	142					9																	95147973		2203	4300	6503	SO:0001583	missense	4969				extracellular space|proteinaceous extracellular matrix	growth factor activity	g.chr9:95147973G>T	AI424992	AI424992	CCDS6695.1	CCDS6695.1	9q22	2008-02-05	2007-02-16		2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809	ENSG00000106809	ENSG00000106809		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8126	8126	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"mimecan proteoglycan"	"mimecan proteoglycan"	602383	602383	"osteoglycin (osteoinductive factor)"		"osteoglycin (osteoinductive factor)"			2372374	2372374	Standard	Standard	NM_033014	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	uc004asa.3	P20774	P20774	OTTHUMG00000020224	OTTHUMG00000020224	ENST00000262551.4:c.826C>A	9.37:g.95147973G>T	ENSP00000262551:p.Pro276Thr		CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.P276T	p.P276T	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN			7	1246	-			276		Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	ENST00000262551.4	37	c.826C>A	CCDS6695.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283429	0.80803	.	.	ENSG00000106809	ENST00000262551;ENST00000375561	D;D	0.83673	-1.75;-1.75	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.91277	0.7250	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.91505	0.5222	10	0.66056	D	0.02	.	19.6241	0.95671	0.0:0.0:1.0:0.0	.	334;276	B4DI63;P20774	.;MIME_HUMAN	T	276	ENSP00000262551:P276T;ENSP00000364711:P276T	ENSP00000262551:P276T	P	-	1	0	0	OGN	94187794	94187794	1.000000	0.71417	0.947000	0.38551	0.617000	0.37484	9.835000	0.99442	2.708000	0.92522	0.650000	0.86243	CCA		0.403	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1		-4.183354	-24	-24	84	84	NM_024416		5	9.876158	9.876158	68	0.068493	1	0	0.000602214	1	0.000602214	5	68	0.068493	T	95147973	G	T	95147973	3	4	54	1	0	0	0	0	1	0	0	0	10846	1174	41	5	74	5	OGN	9	95147973	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08	14738485	95147973	46065458	15	1036											
STIP1	10963	broad.mit.edu	37	11	63971545	63971545	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr11:63971545A>G	ENST00000305218.4	+	14	1726	c.1579A>G	c.(1579-1581)Ata>Gta	p.I527V	FERMT3_ENST00000279227.5_5'Flank|FERMT3_ENST00000345728.5_5'Flank|STIP1_ENST00000538945.1_Missense_Mutation_p.I503V|STIP1_ENST00000358794.5_Missense_Mutation_p.I574V	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	527	STI1 2.				response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAATCCTGTAATAGCACAGAA	0.463																																						ENST00000358794.5											0			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(1720-1722)Ata>Gta	stress-induced-phosphoprotein 1						151	138	143					11																	63971545		2201	4297	6498	SO:0001583	missense	10963			axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63971545A>G	BC039299	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439	ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	11387	11387	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	"Hsp70/Hsp90-organizing protein"	605063	605063	"stress-induced-phosphoprotein 1"		"stress-induced-phosphoprotein 1"			1569099	1569099	Standard	Standard	NM_006819	NM_006819		Approved	HOP, STI1	uc001nyk.1	uc001nyk.1	P31948	P31948	OTTHUMG00000167789	OTTHUMG00000167789	ENST00000305218.4:c.1579A>G	11.37:g.63971545A>G	ENSP00000305958:p.Ile527Val		STIP1_ENST00000305218.4_Missense_Mutation_p.I527V|STIP1_ENST00000538945.1_Missense_Mutation_p.I503V	p.I574V	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN			14	2273	+			527		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.1720A>G	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.734688	0.30774	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945	T;T;T	0.11495	2.77;3.04;2.81	5.34	5.34	0.76211	5.34	5.34	0.76211	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	N	0.12182	0.205	0.80722	D	1	P;B	0.39862	0.692;0.391	B;B	0.42495	0.389;0.13	T	0.43861	-0.9365	10	0.11794	T	0.64	-25.6402	14.599	0.68427	1.0:0.0:0.0:0.0	.	503;527	F5H0T1;P31948	.;STIP1_HUMAN	V	574;527;503	ENSP00000351646:I574V;ENSP00000305958:I527V;ENSP00000445957:I503V	ENSP00000305958:I527V	I	+	1	0	0	STIP1	63728121	63728121	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.196000	0.89725	2.164000	0.68074	0.459000	0.35465	ATA		0.463	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2		104.982074	-3	-3	112	112	NM_006819		32	106.119576	106.119576	53	0.376471	0	0	0	1	0	32	53	0.376471	G	63971545	A	G	63971545	3	3	54	1	0	0	0	0	1	0	0	0	15284	101	4	4	1633	4	STIP1	11	63971545	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08		63971545	71034971	16	1037											
KRT83	3889	broad.mit.edu	37	12	52710711	52710711	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr12:52710711T>C	ENST00000293670.3	-	5	909	c.847A>G	c.(847-849)Atc>Gtc	p.I283V		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	283	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTGCCTTGATCTCGGCAACG	0.582																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3											0			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(847-849)Atc>Gtc	keratin 83						175	145	155					12																	52710711		2203	4300	6503	SO:0001583	missense	3889			epidermis development	keratin filament	structural molecule activity	g.chr12:52710711T>C	X99141	X99141	CCDS8823.1	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	"-", "Intermediate filaments type II, keratins (basic)"	6460	6460	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"hard keratin type II"	"hard keratin type II"	602765	602765	"keratin, hair, basic, 3"	KRTHB3	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	9084137, 16831889	Standard	Standard	NM_002282	NM_002282		Approved	Hb-3	uc001saf.2	uc001saf.2	P78385	P78385	OTTHUMG00000169632	OTTHUMG00000169632	ENST00000293670.3:c.847A>G	12.37:g.52710711T>C	ENSP00000293670:p.Ile283Val			p.I283V	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	909	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		283	Coil 2.|Rod.	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.847A>G	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	T	4.896	0.166519	0.09339	.	.	ENSG00000170523	ENST00000293670	D	0.89270	-2.49	3.9	3.9	0.45041	3.9	3.9	0.45041	Filament (1);	0.000000	0.42053	U	0.000761	T	0.80914	0.4715	L	0.37800	1.135	0.36185	D	0.849683	B	0.28233	0.204	B	0.37692	0.256	T	0.72090	-0.4395	10	0.02654	T	1	.	4.7787	0.13192	0.0:0.2834:0.0:0.7166	.	283	P78385	KRT83_HUMAN	V	283	ENSP00000293670:I283V	ENSP00000293670:I283V	I	-	1	0	0	KRT83	50996978	50996978	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	5.993000	0.70616	1.544000	0.49359	0.459000	0.35465	ATC		0.582	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1		7.955240	-29	-29	108	108	NM_002282		8	16.268038	16.268038	53	0.131148	0	0	0	1	0	8	53	0.131148	C	52710711	T	C	52710711	3	2	54	1	0	0	0	0	1	0	0	0	8497	1435	50	4	654	4	KRT83	12	52710711	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		52710711	81141184	17	1038											
MAP3K12	7786	broad.mit.edu	37	12	53880791	53880791	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr12:53880791G>A	ENST00000267079.2	-	3	511	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	96					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGACAGGGCGCAGGCAGCCA	0.602																																						ENST00000267079.2											0			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(286-288)Cgc>Tgc	mitogen-activated protein kinase kinase kinase 12						82	67	72					12																	53880791		2203	4300	6503	SO:0001583	missense	7786			histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880791G>A	U07358	U07358	CCDS8860.1, CCDS55831.1	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			2013-10-30			ENSG00000139625	ENSG00000139625	ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	6851	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	"dual leucine zipper kinase DLK"	600447	600447		ZPK		ZPK		8037767	8037767	Standard	Standard	NM_006301	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	uc001sdn.2	Q12852	Q12852	OTTHUMG00000169854	OTTHUMG00000169854	ENST00000267079.2:c.286C>T	12.37:g.53880791G>A	ENSP00000267079:p.Arg96Cys		MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547151.1_5'UTR	p.R96C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			3	511	-			96		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.286C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316940	0.60524	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.77489	-1.09;-1.1;-1.1	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.000000	0.42821	D	0.000645	T	0.78848	0.4348	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;P	0.67900	0.954;0.899	T	0.80710	-0.1261	10	0.87932	D	0	.	10.797	0.46466	0.0:0.0:0.6951:0.3049	.	129;96	G3V1Y2;Q12852	.;M3K12_HUMAN	C	96;129;129	ENSP00000267079:R96C;ENSP00000449038:R129C;ENSP00000448689:R129C	ENSP00000267079:R96C	R	-	1	0	0	MAP3K12	52167058	52167058	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	1.747000	0.38298	2.353000	0.79882	0.462000	0.41574	CGC		0.602	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1		-4.616330	10	10	60	60	NM_006301		3	6.877454	6.877454	52	0.054545	0	0	0	1	0	3	52	0.054545	A	53880791	G	A	53880791	3	1	54	1	0	0	0	0	1	0	0	0	9246	1087	38	1	2345	1	MAP3K12	12	53880791	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08	1170080	53880791	79971104	18	1039											
IFT140	9742	broad.mit.edu	37	16	1574691	1574691	+	Silent	SNP	C	C	T	rs151293332		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr16:1574691C>T	ENST00000426508.2	-	24	3366	c.3003G>A	c.(3001-3003)gcG>gcA	p.A1001A	IFT140_ENST00000361339.5_Silent_p.A195A	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1001					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGGCTATTTGCGCAGCCTAGA	0.632													C|||	1	0.000199681	0	0	5008	,	,		11513	0		0	False		,,,				2504	0.001					ENST00000426508.2											0			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3001-3003)gcG>gcA	intraflagellar transport 140 homolog (Chlamydomonas)						57	60	59					16																	1574691		2199	4300	6499	SO:0001819	synonymous_variant	9742						g.chr16:1574691C>T	AB011162	AB011162	CCDS10439.1	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	"Intraflagellar transport homologs", "WD repeat domain containing"	29077	29077	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614620	614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	9628581	Standard	Standard	NM_014714	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	uc002cmb.3	Q96RY7	Q96RY7	OTTHUMG00000128585	OTTHUMG00000128585	ENST00000426508.2:c.3003G>A	16.37:g.1574691C>T			IFT140_ENST00000361339.5_Silent_p.A195A	p.A1001A	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			24	3366	-		Hepatocellular(780;0.219)	1001		A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.3003G>A	CCDS10439.1																																																																																									0.632	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2		-1.905916	-9	-9	53	53	NM_014714		3	6.577931	6.577931	41	0.068182	0	0	0	1	0	3	41	0.068182	T	1574691	C	T	1574691	2	4	54	1	0	0	0	0	0	0	0	1	7556	755	27	1		1	IFT140	16	1574691	Silent	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		1574691	88780062	19	1040											
SHPK	23729	broad.mit.edu	37	17	3514063	3514063	+	Silent	SNP	G	G	A			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr17:3514063G>A	ENST00000225519.3	-	7	1330	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	410					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		ATGGAGTGCAGGTTCTGAACA	0.632																																						ENST00000225519.3											0			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1228-1230)Ctg>Ttg	sedoheptulokinase						122	123	123					17																	3514063		2203	4300	6503	SO:0001819	synonymous_variant	23729			carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3514063G>A	AF163573	AF163573	CCDS11030.1	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	ENSG00000197417	ENSG00000197417	2.7.1.14			1492	1492	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605060	605060	"carbohydrate kinase-like"	CARKL	"carbohydrate kinase-like"	CARKL		10673275, 18186520	10673275, 18186520	Standard	Standard	NM_013276	NM_013276		Approved	SHK	uc002fvz.1	uc002fvz.1	Q9UHJ6	Q9UHJ6	OTTHUMG00000090694	OTTHUMG00000090694	ENST00000225519.3:c.1228C>T	17.37:g.3514063G>A				p.L410L	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1330	-			410		B2R640|Q8WUH3	Silent	SNP	ENST00000225519.3	37	c.1228C>T	CCDS11030.1																																																																																									0.632	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2		123.454648	-13	-13	112	112			38	123.566422	123.566422	32	0.542857	0	0	0	1	0	38	32	0.542857	A	3514063	G	A	3514063	2	1	54	1	0	0	0	0	0	0	0	1	14290	991	35	3		3	SHPK	17	3514063	Silent	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08		3514063	77681147	20	1041											
RECQL5	9400	broad.mit.edu	37	17	73623546	73623546	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr17:73623546C>T	ENST00000317905.5	-	20	3091	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	RECQL5_ENST00000423245.2_Missense_Mutation_p.E951K|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	978					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTTCGCTCTCGCACCGGGCC	0.622								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5											0			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(2932-2934)Gag>Aag	RecQ protein-like 5						69	79	76					17																	73623546		2033	4176	6209	SO:0001583	missense	9400			DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73623546C>T	AB006533	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469	ENSG00000108469	ENSG00000108469				9950	9950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RecQ protein 5"	"RecQ protein 5"	603781	603781						9878247	9878247	Standard	Standard	NM_004259	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	uc010dgl.3	O94762	O94762			ENST00000317905.5:c.2932G>A	17.37:g.73623546C>T	ENSP00000317636:p.Glu978Lys		RECQL5_ENST00000423245.2_Missense_Mutation_p.E951K|RECQL5_ENST00000443199.2_5'UTR	p.E978K	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	3091	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		978		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2932G>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501993	0.64298	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.61510	0.1	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.945;0.967;0.999	T	0.76958	-0.2766	10	0.56958	D	0.05	-30.6965	18.7978	0.92003	0.0:1.0:0.0:0.0	.	978;951;174	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	K	573;978;978	ENSP00000317636:E978K	ENSP00000317636:E978K	E	-	1	0	0	RECQL5	71135141	71135141	1.000000	0.71417	0.968000	0.41197	0.841000	0.47740	6.362000	0.73077	2.447000	0.82792	0.563000	0.77884	GAG		0.622	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		45.045476	-24	-24	101	101	NM_004259		17	48.559916	48.559916	49	0.257576	0	0	0	1	0	17	49	0.257576	T	73623546	C	T	73623546	3	4	54	1	0	0	0	0	1	0	0	0	13203	893	31	1	47	1	RECQL5	17	73623546	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08	70109483	73623546	7571664	21	1042											
LAMA1	284217	broad.mit.edu	37	18	6999964	6999964	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr18:6999964T>C	ENST00000389658.3	-	31	4508	c.4415A>G	c.(4414-4416)cAc>cGc	p.H1472R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1472	Laminin EGF-like 16. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACGGAAATCGTGGTCCCCTTC	0.423																																						ENST00000389658.3											0			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(4414-4416)cAc>cGc	laminin, alpha 1						77	68	71					18																	6999964		2203	4300	6503	SO:0001583	missense	284217			axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6999964T>C	X58531	X58531	CCDS32787.1	CCDS32787.1	18p11.3	2013-03-01			2013-03-01			ENSG00000101680	ENSG00000101680	ENSG00000101680	ENSG00000101680		"Laminins"	"Laminins"	6481	6481	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			150320	150320		LAMA		LAMA		2591971	2591971	Standard	Standard	NM_005559	NM_005559		Approved		uc002knm.3	uc002knm.3	P25391	P25391	OTTHUMG00000133478	OTTHUMG00000133478	ENST00000389658.3:c.4415A>G	18.37:g.6999964T>C	ENSP00000374309:p.His1472Arg			p.H1472R	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			31	4508	-		Colorectal(10;0.172)	1472	Laminin EGF-like 16.		Missense_Mutation	SNP	ENST00000389658.3	37	c.4415A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	5.540	0.284495	0.10513	.	.	ENSG00000101680	ENST00000389658	T	0.62364	0.03	5.43	-2.46	0.06461	5.43	-2.46	0.06461	EGF-like, laminin (3);	1.471490	0.03930	N	0.285182	T	0.45216	0.1331	N	0.19112	0.55	0.09310	N	1	B	0.25719	0.132	B	0.31101	0.124	T	0.24870	-1.0148	10	0.15499	T	0.54	.	7.4081	0.27001	0.0:0.2705:0.1162:0.6132	.	1472	P25391	LAMA1_HUMAN	R	1472	ENSP00000374309:H1472R	ENSP00000374309:H1472R	H	-	2	0	0	LAMA1	6989964	6989964	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.464000	0.21988	-0.581000	0.05937	-0.242000	0.12053	CAC		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		7.886176	-14	-14	22	22	NM_005559		4	9.979212	9.979212	18	0.181818	0	0	0	1	0	4	18	0.181818	C	6999964	T	C	6999964	3	2	54	1	0	0	0	0	1	0	0	0	8605	1696	59	4	4944	4	LAMA1	18	6999964	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		6999964	71077284	22	1043											
MUC16	94025	broad.mit.edu	37	19	8999436	8999436	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr19:8999436T>C	ENST00000397910.4	-	56	40942	c.40739A>G	c.(40738-40740)gAg>gGg	p.E13580G	MUC16_ENST00000380951.5_Missense_Mutation_p.E221G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13582	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGCCCAGCTCAGTGATGCT	0.572																																						ENST00000397910.4											0			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40738-40740)gAg>gGg	mucin 16, cell surface associated						235	197	210					19																	8999436		2063	4208	6271	SO:0001583	missense	94025			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999436T>C	AF414442	AF414442	CCDS54212.1	CCDS54212.1	19p13.2	2008-02-05	2006-03-14		2008-02-05	2006-03-14			ENSG00000181143		ENSG00000181143		"Mucins"	"Mucins"	15582	15582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606154	606154						11369781	11369781	Standard	Standard	XM_006722941	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	uc002mkp.3	Q8WXI7	Q8WXI7			ENST00000397910.4:c.40739A>G	19.37:g.8999436T>C	ENSP00000381008:p.Glu13580Gly		MUC16_ENST00000380951.5_Missense_Mutation_p.E221G	p.E13580G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			56	40942	-			13582	SEA 10.	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40739A>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.899|8.899	0.955939|0.955939	0.18507|0.18507	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.29655|.	1.56;1.56|.	3.48|3.48	-1.19|-1.19	0.09585|0.09585	3.48|3.48	-1.19|-1.19	0.09585|0.09585	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.53254|0.53254	0.1785|0.1785	M|M	0.65975|0.65975	2.015|2.015	.|.	.|.	.|.	B;D|.	0.53745|.	0.134;0.962|.	B;D|.	0.66716|.	0.063;0.946|.	T|T	0.58086|0.58086	-0.7698|-0.7698	7|4	.|.	.|.	.|.	.|.	7.319|7.319	0.26517|0.26517	0.0:0.4982:0.0:0.5018|0.0:0.4982:0.0:0.5018	.|.	21225;13580|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	G|G	13580;221|420	ENSP00000381008:E13580G;ENSP00000370338:E221G|.	.|.	E|S	-|-	2|1	0|0	0|0	MUC16|MUC16	8860436|8860436	8860436|8860436	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.020000|0.020000	0.10135|0.10135	-0.642000|-0.642000	0.05427|0.05427	-0.468000|-0.468000	0.06922|0.06922	0.454000|0.454000	0.30748|0.30748	GAG|AGC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		143.329073	-48	-48	333	333	NM_024690		56	157.634179	157.634179	177	0.240343	0	0	0	1	0	56	177	0.240343	C	8999436	T	C	8999436	3	2	54	1	0	0	0	0	1	0	0	0	9973	1551	54	4	2900	4	MUC16	19	8999436	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		8999436	50129547	23	1044											
PPP1R12C	54776	broad.mit.edu	37	19	55602889	55602889	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr19:55602889T>C	ENST00000263433.3	-	22	2315	c.2300A>G	c.(2299-2301)aAg>aGg	p.K767R	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K692R|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K704R	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ATTCTCATCCTTGAGGCGCTG	0.637																																						ENST00000263433.3											0			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(2299-2301)aAg>aGg	protein phosphatase 1, regulatory subunit 12C						60	55	57					19																	55602889		2203	4300	6503	SO:0001583	missense	54776				cytoplasm		g.chr19:55602889T>C	AF312028	AF312028	CCDS12916.1	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503	ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	14947	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	"myosin-binding subunit 85"	613245	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	11399775	Standard	Standard	NM_017607	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	uc002qix.4	Q9BZL4	Q9BZL4			ENST00000263433.3:c.2300A>G	19.37:g.55602889T>C	ENSP00000263433:p.Lys767Arg		PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K692R|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K704R	p.K767R	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	22	2315	-			767			Missense_Mutation	SNP	ENST00000263433.3	37	c.2300A>G	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902556	0.52227	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.15718	2.4;2.4;2.4	4.2	3.17	0.36434	4.2	3.17	0.36434	.	0.145923	0.42821	D	0.000646	T	0.31009	0.0783	L	0.58810	1.83	0.30710	N	0.749401	D;P;D	0.69078	0.997;0.873;0.997	D;B;D	0.73380	0.98;0.411;0.98	T	0.13818	-1.0495	10	0.87932	D	0	.	5.7809	0.18306	0.0:0.1213:0.0:0.8787	.	692;765;767	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	R	767;704;692	ENSP00000263433:K767R;ENSP00000365573:K704R;ENSP00000387833:K692R	ENSP00000263433:K767R	K	-	2	0	0	PPP1R12C	60294701	60294701	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	3.603000	0.54074	1.683000	0.51011	0.459000	0.35465	AAG		0.637	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2		51.300471	-2	-2	45	45	NM_017607		16	51.307465	51.307465	15	0.516129	0	0	0	1	0	16	15	0.516129	C	55602889	T	C	55602889	3	2	54	1	0	0	0	0	1	0	0	0	12356	1609	56	4	52	4	PPP1R12C	19	55602889	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08	46603453	55602889	3526094	24	1045											
SLC19A1	6573	broad.mit.edu	37	21	46950865	46950865	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr21:46950865C>T	ENST00000311124.4	-	4	1122	c.970G>A	c.(970-972)Gcg>Acg	p.A324T	SLC19A1_ENST00000485649.2_Missense_Mutation_p.A284T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A324T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A324T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	324					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	ACGAAGCCCGCGGCGAAGGAC	0.711																																						ENST00000311124.4											0			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(970-972)Gcg>Acg	solute carrier family 19 (folate transporter), member 1						14	14	14					21																	46950865		2191	4272	6463	SO:0001583	missense	6573			folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46950865C>T	U15939	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			2013-05-22			ENSG00000173638	ENSG00000173638	ENSG00000173638	ENSG00000173638		"Solute carriers"	"Solute carriers"	10937	10937	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600424	600424						9570943	9570943	Standard	Standard	NM_194255	NM_194255		Approved	FOLT	uc002zhl.2	uc002zhl.2	P41440	P41440	OTTHUMG00000090397	OTTHUMG00000090397	ENST00000311124.4:c.970G>A	21.37:g.46950865C>T	ENSP00000308895:p.Ala324Thr		SLC19A1_ENST00000380010.4_Missense_Mutation_p.A324T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A324T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A284T	p.A324T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	4	1122	-			324		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.970G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	c	19.41	3.823174	0.71143	.	.	ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.81908	-1.55;-1.55;-1.55	4.16	4.16	0.48862	4.16	4.16	0.48862	Major facilitator superfamily domain, general substrate transporter (1);	0.056197	0.64402	N	0.000001	D	0.90532	0.7033	M	0.76938	2.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.997;1.0;0.997	D	0.91568	0.5269	10	0.56958	D	0.05	-35.1012	15.397	0.74805	0.0:1.0:0.0:0.0	.	284;346;324;324	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	T	71;324;324;284	ENSP00000308895:A324T;ENSP00000369347:A324T;ENSP00000441772:A284T	ENSP00000308895:A324T	A	-	1	0	0	SLC19A1	45775293	45775293	1.000000	0.71417	0.295000	0.24960	0.199000	0.23934	6.964000	0.76061	2.034000	0.60081	0.289000	0.19496	GCG		0.711	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1		2.703999	-1	-1	32	32			3	7.244018	7.244018	26	0.103448	0	0	0	1	0	3	26	0.103448	T	46950865	C	T	46950865	3	4	54	1	0	0	0	0	1	0	0	0	14428	768	27	1	817	1	SLC19A1	21	46950865	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		46950865	1179030	25	1046											
HMGXB4	10042	broad.mit.edu	37	22	35661472	35661472	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr22:35661472C>A	ENST00000216106.5	+	5	1219	c.1091C>A	c.(1090-1092)cCc>cAc	p.P364H	HMGXB4_ENST00000444518.2_Missense_Mutation_p.P255H	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	364					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCCCTCCTCCCAGCATCCCA	0.517																																						ENST00000216106.5											0			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1090-1092)cCc>cAc	HMG box domain containing 4						74	77	76					22																	35661472		2203	4300	6503	SO:0001583	missense	10042			endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661472C>A	AJ010069	AJ010069	CCDS33641.1	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	"High mobility group / Non-canonical"	5003	5003	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604702	604702	"high-mobility group protein 2-like 1"	HMG2L1	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	10329004, 10591208, 20511232	Standard	Standard	NM_001003681	NM_001003681		Approved	THC211630	uc003anl.3	uc003anl.3	Q9UGU5	Q9UGU5	OTTHUMG00000150439	OTTHUMG00000150439	ENST00000216106.5:c.1091C>A	22.37:g.35661472C>A	ENSP00000216106:p.Pro364His		HMGXB4_ENST00000444518.2_Missense_Mutation_p.P255H	p.P364H	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	1219	+			364		O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.1091C>A	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.529083	0.27387	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.52057	0.68;2.19;0.69;2.19	5.74	4.73	0.59995	5.74	4.73	0.59995	.	0.509257	0.24054	N	0.041970	T	0.28167	0.0695	N	0.14661	0.345	0.33438	D	0.582035	P	0.45283	0.855	B	0.37091	0.241	T	0.47611	-0.9104	10	0.87932	D	0	-11.8579	10.4023	0.44237	0.0:0.8555:0.0:0.1445	.	364	Q9UGU5	HMGX4_HUMAN	H	255;255;255;364	ENSP00000401658:P255H;ENSP00000398302:P255H;ENSP00000415500:P255H;ENSP00000216106:P364H	ENSP00000216106:P364H	P	+	2	0	0	HMGXB4	33991472	33991472	0.998000	0.40836	0.989000	0.46669	0.462000	0.32619	3.083000	0.50136	2.712000	0.92718	0.650000	0.86243	CCC		0.517	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2		86.831972	-11	-11	57	57	NM_005487		27	87.586145	87.586145	15	0.642857	1	0	1.2476e-16	1	1.28225e-16	27	15	0.642857	A	35661472	C	A	35661472	3	1	54	1	0	0	0	0	1	0	0	0	7239	623	22	5	1105	5	HMGXB4	22	35661472	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		35661472	15643094	26	1047											
LRRIQ3	127255	broad.mit.edu	37	1	74507165	74507165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr1:74507165G>A	ENST00000395089.1	-	6	1449	c.1450C>T	c.(1450-1452)Cga>Tga	p.R484*	LRRIQ3_ENST00000354431.4_Nonsense_Mutation_p.R484*			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	484								p.R484R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAAACTTGTCGTAAACTGTTC	0.318																																						ENST00000354431.4											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1450-1452)Cga>Tga	leucine-rich repeats and IQ motif containing 3						126	120	122					1																	74507165		1813	4078	5891	SO:0001587	stop_gained	127255						g.chr1:74507165G>A	BX647210	BX647210	CCDS41350.1	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620	ENSG00000162620	ENSG00000162620				28318	28318	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"leucine rich repeat containing 44"	LRRC44	"leucine rich repeat containing 44"	LRRC44		12477932	12477932	Standard	Standard	NM_001105659	NM_001105659		Approved	MGC22773	uc001dfy.4	uc001dfy.4	A6PVS8	A6PVS8	OTTHUMG00000009508	OTTHUMG00000009508	ENST00000395089.1:c.1450C>T	1.37:g.74507165G>A	ENSP00000378524:p.Arg484*		LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.R484*	p.R484*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			7	1641	-			484		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Nonsense_Mutation	SNP	ENST00000395089.1	37	c.1450C>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118333	0.77323	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	.	.	.	5.77	2.54	0.30619	5.77	2.54	0.30619	.	1.024280	0.07816	N	0.958944	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	3.6426	0.08173	0.0904:0.212:0.5437:0.154	.	.	.	.	X	484	.	ENSP00000346414:R484X	R	-	1	2	2	LRRIQ3	74279753	74279753	0.093000	0.21703	0.020000	0.16555	0.014000	0.08584	1.136000	0.31467	0.871000	0.35750	0.585000	0.79938	CGA		0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		98.055179	-38	-38	92	92	NM_145258		33	99.074503	99.074503	53	0.383721	0	0	0	1	0	33	53	0.383721	A	74507165	G	A	74507165	4	1	55	1	0	0	0	0	0	1	0	0	9030	1153	40	1	432	1	LRRIQ3	1	74507165	Nonsense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		74507165	174743456	1	1048											
SPTA1	6708	broad.mit.edu	37	1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A	rs375618954		TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1793					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCCAGCCGCAACTGGATC	0.522																																						ENST00000368147.4											0			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5377-5379)Cgg>Tgg	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	G	TRP/ARG	0,3960		0,0,1980	116	123	121		5377	3.6	1	1		121	1,8319		0,1,4159	no	missense	SPTA1	NM_003126.2	101	0,1,6139	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	1793/2420	158605758	1,12279	1980	4160	6140	SO:0001583	missense	6708			actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158605758G>A	M61877	M61877	CCDS41423.1	CCDS41423.1	1q21	2014-06-23	2014-06-23		2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	"EF-hand domain containing"	11272	11272	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"elliptocytosis 2"	"elliptocytosis 2"	182860	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"		"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"					Standard	Standard	NM_003126	NM_003126		Approved	EL2	uc001fst.1	uc001fst.1	P02549	P02549	OTTHUMG00000019636	OTTHUMG00000019636	ENST00000368147.4:c.5377C>T	1.37:g.158605758G>A	ENSP00000357129:p.Arg1793Trp			p.R1793W	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			38	5557	-	all_hematologic(112;0.0378)				Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5377C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033837	0.54896	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56444	0.46;0.46	5.65	3.62	0.41486	5.65	3.62	0.41486	.	0.000000	0.29266	N	0.012655	T	0.70736	0.3258	M	0.89840	3.065	0.50467	D	0.999872	D	0.89917	1.0	D	0.97110	1.0	T	0.78663	-0.2116	10	0.87932	D	0	.	13.3664	0.60687	0.0:0.0:0.6481:0.3519	.	1793	P02549	SPTA1_HUMAN	W	1793	ENSP00000357130:R1793W;ENSP00000357129:R1793W	ENSP00000357129:R1793W	R	-	1	2	2	SPTA1	156872382	156872382	1.000000	0.71417	0.987000	0.45799	0.205000	0.24178	2.658000	0.46733	1.575000	0.49775	0.655000	0.94253	CGG		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		149.055869	-26	-26	106	106	NM_003126		50	150.837665	150.837665	83	0.37594	0	0	0	1	0	50	83	0.37594	A	158605758	G	A	158605758	3	1	55	1	0	0	0	0	1	0	0	0	15115	1086	38	1	1942	1	SPTA1	1	158605758	Missense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08	84098593	158605758	90644863	2	1049											
BAP1	51533	broad.mit.edu	37	3	52442512	52442512	+	5'Flank	SNP	T	T	C			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr3:52442512T>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000296288.5_Missense_Mutation_p.N78S|BAP1_ENST00000460680.1_Missense_Mutation_p.N78S	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.N78S(2)|p.I72fs*7(1)|p.I76fs*45(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GAACATGTTATTCACAATATC	0.488																																						ENST00000460680.1											4	Substitution - Missense(2)|Deletion - Frameshift(2)	kidney(2)|eye(1)|pleura(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(232-234)aAt>aGt	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						63	53	56					3																	52442512		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52442512T>C	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"Zinc fingers, PHD-type"		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52442512T>C	Exception_encountered		BAP1_ENST00000296288.5_Missense_Mutation_p.N78S	p.N78S	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	4	704	-			78		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.233A>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931031	0.73327	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	5.52	5.52	0.82312	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.090448	0.85682	D	0.000000	T	0.41926	0.1180	N	0.25031	0.7	0.80722	D	1	P	0.41978	0.767	P	0.49361	0.608	T	0.30909	-0.9962	10	0.42905	T	0.14	-2.8537	15.6492	0.77078	0.0:0.0:0.0:1.0	.	78	Q92560	BAP1_HUMAN	S	78	ENSP00000417132:N78S;ENSP00000296288:N78S	ENSP00000296288:N78S	N	-	2	0	0	BAP1	52417552	52417552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.106000	0.64143	0.533000	0.62120	AAT		0.488	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		14.002059	-3	-3	13	13	NM_016483		4	14.149697	14.149697	2	0.666667	0	0	0	1	0	4	2	0.666667	C	52442512	T	C	52442512	1	2	55	0	1	0	0	0	0	0	0	0	1311	1493	52	4		4	BAP1	3	52442512	5'Flank	SNP	T	TCGA-VD-AA8N-01A-11D-A39W-08		52442512	145579918	3	1050											
TTLL2	83887	broad.mit.edu	37	6	167754272	167754272	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr6:167754272C>T	ENST00000239587.5	+	3	972	c.884C>T	c.(883-885)gCc>gTc	p.A295V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	295	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AACAATTATGCCCATTTGACC	0.408																																						ENST00000239587.5											0			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(883-885)gCc>gTc	tubulin tyrosine ligase-like family, member 2						144	150	148					6																	167754272		2203	4300	6503	SO:0001583	missense	83887			protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754272C>T	AK093039	AK093039	CCDS5301.1	CCDS5301.1	6q27	2013-02-14		2004-01-14	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	"Tubulin tyrosine ligase-like family"	21211	21211	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 6 open reading frame 104"	C6orf104	"chromosome 6 open reading frame 104"	C6orf104		11054573	11054573	Standard	Standard	XM_006715572	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	uc003qvs.1	Q9BWV7	Q9BWV7	OTTHUMG00000016023	OTTHUMG00000016023	ENST00000239587.5:c.884C>T	6.37:g.167754272C>T	ENSP00000239587:p.Ala295Val			p.A295V	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	972	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	295	TTL.	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.884C>T	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251264	0.39797	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.04603	3.59	3.73	3.73	0.42828	3.73	3.73	0.42828	.	0.294132	0.26700	N	0.022959	T	0.02304	0.0071	N	0.11756	0.17	0.09310	N	1	D	0.54601	0.967	P	0.55785	0.784	T	0.51725	-0.8669	10	0.13470	T	0.59	.	14.615	0.68541	0.0:1.0:0.0:0.0	.	295	Q9BWV7	TTLL2_HUMAN	V	295;222	ENSP00000239587:A295V	ENSP00000239587:A295V	A	+	2	0	0	TTLL2	167674262	167674262	0.988000	0.35896	0.003000	0.11579	0.003000	0.03518	3.921000	0.56454	2.073000	0.62155	0.484000	0.47621	GCC		0.408	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3		-25.220603	-3	-3	181	181	NM_031949		4	6.736323	6.736323	128	0.030303	0	0	0	1	0	4	128	0.030303	T	167754272	C	T	167754272	3	4	55	1	0	0	0	0	1	0	0	0	16724	739	26	2	894	2	TTLL2	6	167754272	Missense_Mutation	SNP	C	TCGA-VD-AA8N-01A-11D-A39W-08		167754272	3360795	4	1051											
PREX2	80243	broad.mit.edu	37	8	68992730	68992730	+	Silent	SNP	G	G	T			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr8:68992730G>T	ENST00000288368.4	+	16	1972	c.1695G>T	c.(1693-1695)tcG>tcT	p.S565S	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	565	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTTTTTTCGGATGAGGAAA	0.323																																						ENST00000288368.4											0			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1693-1695)tcG>tcT	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						83	84	83					8																	68992730		2203	4300	6503	SO:0001819	synonymous_variant	80243			G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68992730G>T	AK024079	AK024079	CCDS6201.1	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	"Rho guanine nucleotide exchange factors"	22950	22950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	"protein phosphatase 1, regulatory subunit 129"	612139	612139	"DEP domain containing 2"	DEPDC2	"DEP domain containing 2"	DEPDC2		15304342, 15304343	15304342, 15304343	Standard	Standard	NM_024870	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	uc003xxv.1	Q70Z35	Q70Z35	OTTHUMG00000164402	OTTHUMG00000164402	ENST00000288368.4:c.1695G>T	8.37:g.68992730G>T			PREX2_ENST00000529398.1_3'UTR	p.S565S	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			16	1972	+			565	DEP 2.	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.1695G>T	CCDS6201.1																																																																																									0.323	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		136.010188	-13	-13	46	46	NM_025170		43	136.689328	136.689328	61	0.413462	1	0	2.77807e-22	1	2.89886e-22	43	61	0.413462	T	68992730	G	T	68992730	2	4	55	1	0	0	0	0	0	0	0	1	12477	1103	39	5		5	PREX2	8	68992730	Silent	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		68992730	77371292	5	1052											
MYH6	4624	broad.mit.edu	37	14	23862938	23862955	+	In_Frame_Del	DEL	GTCCTTCTTGAGCTCTGA	GTCCTTCTTGAGCTCTGA	-	rs375226438|rs267603951		TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr14:23862938_23862955delGTCCTTCTTGAGCTCTGA	ENST00000356287.3	-	21	2877_2894	c.2848_2865delTCAGAGCTCAAGAAGGAC	c.(2848-2865)tcagagctcaagaaggacdel	p.SELKKD950del	MYH6_ENST00000405093.3_In_Frame_Del_p.SELKKD950del			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	950					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTCATCAATGTCCTTCTTGAGCTCTGAGCACTCGTCT	0.56																																						ENST00000405093.3											0			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2848-2865)tcagagctcaagaaggacdel	myosin, heavy chain 6, cardiac muscle, alpha																																			SO:0001651	inframe_deletion	4624			adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862938_23862955delGTCCTTCTTGAGCTCTGA	D00943	D00943	CCDS9600.1	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616	ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	"Myosins / Myosin superfamily : Class II"	7576	7576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	"cardiomyopathy, hypertrophic 1"	160710	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"		"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	2144212	Standard	Standard	NM_002471	NM_002471		Approved		uc001wjv.3	uc001wjv.3	P13533	P13533	OTTHUMG00000028753	OTTHUMG00000028753	ENST00000356287.3:c.2848_2865delTCAGAGCTCAAGAAGGAC	14.37:g.23862938_23862955delGTCCTTCTTGAGCTCTGA	ENSP00000348634:p.Ser950_Asp955del		MYH6_ENST00000356287.3_In_Frame_Del_p.SELKKD950del	p.SELKKD950del	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	22	2918_2935	-	all_cancers(95;2.54e-05)		950		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	In_Frame_Del	DEL	ENST00000356287.3	37	c.2848_2865delTCAGAGCTCAAGAAGGAC	CCDS9600.1																																																																																									0.56	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	.	.	-38	-38	77	77			12			81	0.13						12	81	0.13	-	23862955	GTCCTTCTTGAGCTCTGA	-	23862938	7	5	55	1	0	1	0	1	0	0	0	0	10038	1368	48	0	3026	0	MYH6	14	23862938	In_Frame_Del	DEL	GTCCTTCTTGAGCTCTGA	TCGA-VD-AA8N-01A-11D-A39W-08		23862938	83486602	6	1053											
NLRC5	84166	broad.mit.edu	37	16	57059885	57059885	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr16:57059885G>A	ENST00000262510.6	+	6	1255	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T	NLRC5_ENST00000539144.1_Missense_Mutation_p.A344T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A344T|NLRC5_ENST00000436936.1_Missense_Mutation_p.A344T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	344	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)				CCGGGTGATGGCTACCTCCCG	0.622																																						ENST00000436936.1											0			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						c.(1030-1032)Gct>Act	NLR family, CARD domain containing 5						43	46	45					16																	57059885		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.chr16:57059885G>A	AF389420	AF389420	CCDS10773.1	CCDS10773.1	16q13	2008-02-05			2008-02-05			ENSG00000140853	ENSG00000140853	ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	"Nucleotide-binding domain and leucine rich repeat containing"	29933	29933	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537	613537						12615073	12615073	Standard	Standard	NM_032206	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	uc021tiu.1	Q86WI3	Q86WI3	OTTHUMG00000133470	OTTHUMG00000133470	ENST00000262510.6:c.1030G>A	16.37:g.57059885G>A	ENSP00000262510:p.Ala344Thr		NLRC5_ENST00000539144.1_Missense_Mutation_p.A344T|NLRC5_ENST00000262510.6_Missense_Mutation_p.A344T|NLRC5_ENST00000308149.7_Missense_Mutation_p.A344T	p.A344T			Q86WI3	NLRC5_HUMAN			6	1255	+		all_neural(199;0.225)	344	NACHT.	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1030G>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.751|9.751	1.167452|1.167452	0.21621|0.21621	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144|ENST00000538805	T;T;T;T|.	0.79141|.	-1.24;-1.24;-1.24;-1.24|.	5.48|5.48	2.66|2.66	0.31614|0.31614	5.48|5.48	2.66|2.66	0.31614|0.31614	NACHT nucleoside triphosphatase (1);|.	0.238547|.	0.21764|.	N|.	0.069480|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.08118|0.08118	0|0	0.23341|0.23341	N|N	0.99787|0.99787	B;B;B;B|.	0.25441|.	0.126;0.126;0.056;0.026|.	B;B;B;B|.	0.25140|.	0.039;0.058;0.021;0.036|.	T|T	0.22347|0.22347	-1.0219|-1.0219	10|5	0.25106|.	T|.	0.35|.	.|.	10.6177|10.6177	0.45460|0.45460	0.2271:0.0:0.7729:0.0|0.2271:0.0:0.7729:0.0	.|.	344;344;344;344|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	T|D	344|96	ENSP00000262510:A344T;ENSP00000308886:A344T;ENSP00000389739:A344T;ENSP00000441727:A344T|.	ENSP00000262510:A344T|.	A|G	+|+	1|2	0|0	0|0	NLRC5|NLRC5	55617386|55617386	55617386|55617386	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.633000|0.633000	0.38033|0.38033	1.362000|1.362000	0.34148|0.34148	0.977000|0.977000	0.38444|0.38444	0.561000|0.561000	0.74099|0.74099	GCT|GGC		0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1		0.397264	-21	-21	49	49	NM_032206		3	6.48775	6.48775	32	0.085714	0	0	0	1	0	3	32	0.085714	A	57059885	G	A	57059885	3	1	55	1	0	0	0	0	1	0	0	0	10470	1203	42	2	1044	2	NLRC5	16	57059885	Missense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		57059885	33294868	7	1054											
SEC14L1	6397	broad.mit.edu	37	17	75208190	75208190	+	Silent	SNP	C	C	T			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr17:75208190C>T	ENST00000413679.2	+	15	2073	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	SEC14L1_ENST00000431431.2_Silent_p.N556N|SEC14L1_ENST00000591437.1_Silent_p.N556N|SEC14L1_ENST00000443798.4_Silent_p.N590N|SEC14L1_ENST00000392476.2_Silent_p.N590N|SEC14L1_ENST00000585618.1_Silent_p.N590N|SEC14L1_ENST00000436233.4_Silent_p.N590N|SEC14L1_ENST00000430767.4_Silent_p.N590N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	590	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CGGGTGGGAACAATGTGCAGC	0.532																																						ENST00000413679.2											0			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1768-1770)aaC>aaT	SEC14-like 1 (S. cerevisiae)						134	147	143					17																	75208190		2203	4300	6503	SO:0001819	synonymous_variant	6397			transport	Golgi apparatus|integral to membrane	binding	g.chr17:75208190C>T	D67029	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28		2008-02-01	2001-11-28			ENSG00000129657		ENSG00000129657				10698	10698	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601504	601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	8697811	Standard	Standard	NM_001143998	NM_001143998		Approved	PRELID4A	uc002jto.3	uc002jto.3	Q92503	Q92503			ENST00000413679.2:c.1770C>T	17.37:g.75208190C>T			SEC14L1_ENST00000431431.2_Silent_p.N556N|SEC14L1_ENST00000436233.4_Silent_p.N590N|SEC14L1_ENST00000443798.4_Silent_p.N590N|SEC14L1_ENST00000591437.1_Silent_p.N556N|SEC14L1_ENST00000430767.4_Silent_p.N590N|SEC14L1_ENST00000392476.2_Silent_p.N590N|SEC14L1_ENST00000585618.1_Silent_p.N590N	p.N590N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN			15	2073	+			590	GOLD.	A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1770C>T	CCDS11752.1																																																																																									0.532	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1		197.427364	-28	-28	188	188	NM_003003		72	202.251554	202.251554	140	0.339623	0	0	0	1	0	72	140	0.339623	T	75208190	C	T	75208190	2	4	55	1	0	0	0	0	0	0	0	1	13981	477	17	3		3	SEC14L1	17	75208190	Silent	SNP	C	TCGA-VD-AA8N-01A-11D-A39W-08		75208190	5987020	8	1055											
KIAA1632	57724	broad.mit.edu	37	18	43534962	43534962	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr18:43534962T>C	ENST00000282041.5	-	2	440	c.406A>G	c.(406-408)Aag>Gag	p.K136E		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	136					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTGAAGTTCTTGGGGGTTTCT	0.483																																						ENST00000282041.5											0			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(406-408)Aag>Gag	ectopic P-granules autophagy protein 5 homolog (C. elegans)						104	98	100					18																	43534962		1870	4101	5971	SO:0001583	missense	57724			autophagy			g.chr18:43534962T>C	AK023817	AK023817	CCDS11926.2	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223	ENSG00000152223	ENSG00000152223				29331	29331	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615068	615068	"KIAA1632"	KIAA1632	"KIAA1632"	KIAA1632		10997877, 20550938	10997877, 20550938	Standard	Standard	XM_005258323	XM_005258323		Approved	hEPG5	uc002lbm.3	uc002lbm.3	Q9HCE0	Q9HCE0	OTTHUMG00000132626	OTTHUMG00000132626	ENST00000282041.5:c.406A>G	18.37:g.43534962T>C	ENSP00000282041:p.Lys136Glu			p.K136E	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			2	440	-			136		A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.406A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708947	0.30322	.	.	ENSG00000152223	ENST00000282041	T	0.10763	2.84	5.76	-1.09	0.09904	5.76	-1.09	0.09904	.	1.162600	0.05964	N	0.641171	T	0.06781	0.0173	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.43327	-0.9398	10	0.21540	T	0.41	-1.3497	6.6903	0.23167	0.0:0.249:0.404:0.347	.	136;136	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	E	136	ENSP00000282041:K136E	ENSP00000282041:K136E	K	-	1	0	0	EPG5	41788960	41788960	0.177000	0.23109	0.040000	0.18447	0.026000	0.11368	0.697000	0.25556	-0.129000	0.11620	-0.371000	0.07208	AAG		0.483	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		133.499155	-1	-1	74	74	NM_020964		43	133.54028	133.54028	39	0.52439	0	0	0	1	0	43	39	0.52439	C	43534962	T	C	43534962	3	2	55	1	0	0	0	0	1	0	0	0	8249	1821	63	4	7505	4	KIAA1632	18	43534962	Missense_Mutation	SNP	T	TCGA-VD-AA8N-01A-11D-A39W-08		43534962	34542286	9	1056											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		64.732888	13	13	93	93	NM_002067		22	65.996146	65.996146	41	0.349206	0	0	0	1	0	22	41	0.349206	T	3118942	A	T	3118942	3	4	55	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-AA8N-01A-11D-A39W-08		3118942	56010041	10	1057											
BPIL3	128859	broad.mit.edu	37	20	31622051	31622051	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr20:31622051G>A	ENST00000349552.1	+	3	257	c.257G>A	c.(256-258)gGc>gAc	p.G86D		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	86						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCTGGAGTGGGCATCTTCCAA	0.572																																						ENST00000349552.1											0										c.(256-258)gGc>gAc	BPI fold containing family B, member 6						183	142	156					20																	31622051		2203	4300	6503	SO:0001583	missense	128859				extracellular region	lipid binding	g.chr20:31622051G>A	AF465767	AF465767	CCDS13211.1	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104	ENSG00000167104	ENSG00000167104		"BPI fold containing"	"BPI fold containing"	16504	16504	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614110	614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	12185532, 21787333	Standard	Standard	NM_174897	NM_174897		Approved	LPLUNC6	uc010zuc.2	uc010zuc.2	Q8NFQ5	Q8NFQ5	OTTHUMG00000032238	OTTHUMG00000032238	ENST00000349552.1:c.257G>A	20.37:g.31622051G>A	ENSP00000344929:p.Gly86Asp			p.G86D	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			3	257	+			86			Missense_Mutation	SNP	ENST00000349552.1	37	c.257G>A	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092834	0.76756	.	.	ENSG00000167104	ENST00000349552	T	0.08720	3.06	4.7	4.7	0.59300	4.7	4.7	0.59300	.	0.000000	0.56097	D	0.000026	T	0.27967	0.0689	M	0.74881	2.28	0.44149	D	0.996943	D	0.89917	1.0	D	0.91635	0.999	T	0.01409	-1.1362	10	0.66056	D	0.02	.	13.1161	0.59301	0.0:0.0:1.0:0.0	.	86	Q8NFQ5	BPIB6_HUMAN	D	86	ENSP00000344929:G86D	ENSP00000344929:G86D	G	+	2	0	0	BPIFB6	31085712	31085712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.939000	0.63526	2.146000	0.66826	0.561000	0.74099	GGC		0.572	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2		-36.689990	-11	-11	144	144	NM_174897		4	7.060068	7.060068	169	0.023121	0	0	0	1	0	4	169	0.023121	A	31622051	G	A	31622051	3	1	55	1	0	0	0	0	1	0	0	0	1493	1203	42	2	267	2	BPIL3	20	31622051	Missense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		31622051	31403469	11	1058											
MORC3	23515	broad.mit.edu	37	21	37732303	37732303	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	g.chr21:37732303G>A	ENST00000400485.1	+	11	1335	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	MORC3_ENST00000487909.1_3'UTR|AP000692.9_ENST00000397184.2_RNA	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	420					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.R420Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTAAAGTGGCGGAAATTACCT	0.418																																						ENST00000400485.1											1	Substitution - Missense(1)	prostate(1)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1258-1260)cGg>cAg	MORC family CW-type zinc finger 3						194	186	189					21																	37732303		2047	4223	6270	SO:0001583	missense	23515			cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37732303G>A	AK025327	AK025327	CCDS42924.1	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256	ENSG00000159256	ENSG00000159256				23572	23572	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610078	610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	14607086	Standard	Standard	NM_015358	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	uc002yvi.3	Q14149	Q14149	OTTHUMG00000086620	OTTHUMG00000086620	ENST00000400485.1:c.1259G>A	21.37:g.37732303G>A	ENSP00000383333:p.Arg420Gln		MORC3_ENST00000487909.1_3'UTR	p.R420Q	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			11	1335	+			420		A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1259G>A	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	36	5.769731	0.96914	.	.	ENSG00000159256	ENST00000400485	T	0.62364	0.03	5.68	5.68	0.88126	5.68	5.68	0.88126	Zinc finger, CW-type (2);	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	H	0.97077	3.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	D	0.90690	0.4612	10	0.72032	D	0.01	-11.5603	19.805	0.96527	0.0:0.0:1.0:0.0	.	420	Q14149	MORC3_HUMAN	Q	420	ENSP00000383333:R420Q	ENSP00000383333:R420Q	R	+	2	0	0	MORC3	36654173	36654173	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.581000	0.98210	2.672000	0.90937	0.557000	0.71058	CGG		0.418	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1		192.060687	-41	-41	113	113	NM_015358		61	192.563836	192.563836	79	0.435714	0	0	0	1	0	61	79	0.435714	A	37732303	G	A	37732303	3	1	55	1	0	0	0	0	1	0	0	0	9703	1116	39	1	1301	1	MORC3	21	37732303	Missense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		37732303	10397592	12	1059											
ASPM	259266	broad.mit.edu	37	1	197111536	197111536	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr1:197111536T>G	ENST00000367409.4	-	3	2102	c.1846A>C	c.(1846-1848)Aaa>Caa	p.K616Q	ASPM_ENST00000294732.7_Missense_Mutation_p.K616Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	616					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTTTGTTTTCTTAACAGCT	0.348																																						ENST00000367409.4											0			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1846-1848)Aaa>Caa	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						196	208	204					1																	197111536		2203	4300	6503	SO:0001583	missense	259266			mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111536T>G	AY367065	AY367065	CCDS1389.1, CCDS55672.1	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	ENSG00000066279	ENSG00000066279				19048	19048	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605481	605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	11078481	Standard	Standard	NM_018136	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	uc001gtu.3	Q8IZT6	Q8IZT6	OTTHUMG00000036277	OTTHUMG00000036277	ENST00000367409.4:c.1846A>C	1.37:g.197111536T>G	ENSP00000356379:p.Lys616Gln		ASPM_ENST00000294732.7_Missense_Mutation_p.K616Q	p.K616Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	2102	-			616		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1846A>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.972515	0.34848	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59502	0.26;1.52	5.12	3.98	0.46160	5.12	3.98	0.46160	.	0.426506	0.23171	N	0.051126	T	0.44808	0.1311	L	0.46157	1.445	0.09310	N	1	P;B	0.37015	0.578;0.327	B;B	0.31337	0.128;0.045	T	0.23976	-1.0173	10	0.23891	T	0.37	.	10.5922	0.45316	0.0:0.0:0.1619:0.8381	.	616;616	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Q	616	ENSP00000356379:K616Q;ENSP00000294732:K616Q	ENSP00000294732:K616Q	K	-	1	0	0	ASPM	195378159	195378159	0.014000	0.17966	0.002000	0.10522	0.021000	0.10359	1.418000	0.34782	1.052000	0.40392	0.523000	0.50628	AAA		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		270.278130	-2	-2	185	185	NM_018136		81	270.300148	270.300148	77	0.512658	0	0	0	1	0	81	77	0.512658	G	197111536	T	G	197111536	3	3	56	1	0	0	0	0	1	0	0	0	1056	1792	62	5	8691	5	ASPM	1	197111536	Missense_Mutation	SNP	T	TCGA-VD-AA8O-01A-11D-A39W-08		197111536	52139085	1	1060	17	2									
ASPM	259266	broad.mit.edu	37	1	197111537	197111537	+	Silent	SNP	C	C	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr1:197111537C>T	ENST00000367409.4	-	3	2101	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	ASPM_ENST00000294732.7_Silent_p.K615K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	615					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTTGTTTTCTTAACAGCTG	0.348																																						ENST00000367409.4											0			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(1843-1845)aaG>aaA	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						195	207	203					1																	197111537		2203	4300	6503	SO:0001819	synonymous_variant	259266			mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111537C>T	AY367065	AY367065	CCDS1389.1, CCDS55672.1	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279	ENSG00000066279	ENSG00000066279				19048	19048	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605481	605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	11078481	Standard	Standard	NM_018136	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	uc001gtu.3	Q8IZT6	Q8IZT6	OTTHUMG00000036277	OTTHUMG00000036277	ENST00000367409.4:c.1845G>A	1.37:g.197111537C>T			ASPM_ENST00000294732.7_Silent_p.K615K	p.K615K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	2101	-			615		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.1845G>A	CCDS1389.1																																																																																									0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		254.472651	-5	-5	184	184	NM_018136		81	254.478027	254.478027	79	0.50625	0	0	0	1	0	81	79	0.50625	T	197111537	C	T	197111537	2	4	56	1	0	0	0	0	0	0	0	1	1056	912	32	3		3	ASPM	1	197111537	Silent	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08	1	197111537	52139084	2	1061	17	2									
RNF25	64320	broad.mit.edu	37	2	219529520	219529520	+	Missense_Mutation	SNP	C	C	G	rs147462219		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr2:219529520C>G	ENST00000295704.2	-	9	1183	c.743G>C	c.(742-744)cGg>cCg	p.R248P		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	248					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATTCCCCCCCGCTCCTGCTG	0.577																																						ENST00000295704.2											0			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(742-744)cGg>cCg	ring finger protein 25						93	86	88					2																	219529520		2203	4300	6503	SO:0001583	missense	64320			positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529520C>G			CCDS2420.1	CCDS2420.1	2q35	2008-02-05			2008-02-05			ENSG00000163481	ENSG00000163481	ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	14662	14662	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12748188	12748188	Standard	Standard	NM_022453	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	uc002vit.3	Q96BH1	Q96BH1	OTTHUMG00000133077	OTTHUMG00000133077	ENST00000295704.2:c.743G>C	2.37:g.219529520C>G	ENSP00000295704:p.Arg248Pro			p.R248P	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1183	-		Renal(207;0.0474)	248		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.743G>C	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450842	0.43531	.	.	ENSG00000163481	ENST00000295704	T	0.50548	0.74	5.94	3.18	0.36537	5.94	3.18	0.36537	.	0.393729	0.24134	N	0.041239	T	0.42921	0.1224	M	0.65975	2.015	0.19945	N	0.999945	P	0.43857	0.819	B	0.39503	0.301	T	0.41431	-0.9509	10	0.87932	D	0	-16.137	7.1976	0.25862	0.0:0.5944:0.0:0.4056	.	248	Q96BH1	RNF25_HUMAN	P	248	ENSP00000295704:R248P	ENSP00000295704:R248P	R	-	2	0	0	RNF25	219237764	219237764	0.064000	0.20934	0.318000	0.25279	0.792000	0.44763	1.769000	0.38522	0.415000	0.25817	0.561000	0.74099	CGG		0.577	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1		46.124053	-6	-6	47	47	NM_022453		18	48.567205	48.567205	44	0.290323	0	0	0	1	0	18	44	0.290323	G	219529520	C	G	219529520	3	3	56	1	0	0	0	0	1	0	0	0	13485	652	23	5	644	5	RNF25	2	219529520	Missense_Mutation	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08		219529520	23669853	3	1062											
HTR3E	285242	broad.mit.edu	37	3	183819281	183819281	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr3:183819281G>T	ENST00000415389.2	+	3	709	c.243G>T	c.(241-243)caG>caT	p.Q81H	HTR3E_ENST00000440596.2_Intron|HTR3E_ENST00000436361.2_Intron|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000335304.2_Missense_Mutation_p.Q96H|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	81					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGAATGAACAGCTGCACCTCT	0.418																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(241-243)caG>caT	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic						223	214	217					3																	183819281		2203	4300	6503	SO:0001583	missense	285242				integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183819281G>T	AY159813	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038	ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	24005	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610123	610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"		"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	12801637, 15157181	Standard	Standard	NM_001256613	NM_001256613		Approved		uc010hxr.3	uc010hxr.3	A5X5Y0	A5X5Y0	OTTHUMG00000156857	OTTHUMG00000156857	ENST00000415389.2:c.243G>T	3.37:g.183819281G>T	ENSP00000401444:p.Gln81His		HTR3E_ENST00000440596.2_Intron|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000436361.2_Intron|HTR3E_ENST00000335304.2_Missense_Mutation_p.Q96H|HTR3E-AS1_ENST00000431427.1_RNA	p.Q81H	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		3	709	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		81		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.243G>T	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	8.096	0.775515	0.16051	.	.	ENSG00000186038	ENST00000415389;ENST00000335304;ENST00000431041	T;T;T	0.79033	-1.23;-1.23;-1.23	3.8	-1.51	0.08664	3.8	-1.51	0.08664	Neurotransmitter-gated ion-channel ligand-binding (3);	0.185501	0.34025	N	0.004327	T	0.71500	0.3347	M	0.82517	2.595	0.28030	N	0.93417	B;B	0.21225	0.053;0.007	B;B	0.18871	0.023;0.015	T	0.63005	-0.6733	10	0.62326	D	0.03	.	3.0518	0.06172	0.3796:0.0:0.3084:0.312	.	81;96	A5X5Y0;A5X5Y0-3	5HT3E_HUMAN;.	H	81;96;10	ENSP00000401444:Q81H;ENSP00000335511:Q96H;ENSP00000391254:Q10H	ENSP00000335511:Q96H	Q	+	3	2	2	HTR3E	185301975	185301975	0.562000	0.26586	0.061000	0.19648	0.730000	0.41778	0.502000	0.22594	-0.501000	0.06605	-0.136000	0.14681	CAG		0.418	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1		96.399957	-3	-3	123	123	NM_182589		32	96.875081	96.875081	45	0.415584	1	0	3.67414e-24	1	3.79266e-24	32	45	0.415584	T	183819281	G	T	183819281	3	4	56	1	0	0	0	0	1	0	0	0	7448	962	34	5	294	5	HTR3E	3	183819281	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		183819281	14203149	4	1063											
GAB1	2549	broad.mit.edu	37	4	144336795	144336795	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr4:144336795G>A	ENST00000262994.4	+	2	540	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	GAB1_ENST00000262995.4_Missense_Mutation_p.E80K|GAB1_ENST00000505913.1_5'UTR	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	80	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AAAAGAGTTTGAAAACAGCTA	0.333																																						ENST00000262995.4											0			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(238-240)Gaa>Aaa	GRB2-associated binding protein 1						95	93	94					4																	144336795		2203	4300	6503	SO:0001583	missense	2549			cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144336795G>A	U43885	U43885	CCDS3759.1, CCDS3760.1	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			2013-01-10			ENSG00000109458	ENSG00000109458	ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	4066	4066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604439	604439						8596638	8596638	Standard	Standard	NM_207123	NM_207123		Approved		uc003ijd.3	uc003ijd.3	Q13480	Q13480	OTTHUMG00000161432	OTTHUMG00000161432	ENST00000262994.4:c.238G>A	4.37:g.144336795G>A	ENSP00000262994:p.Glu80Lys		GAB1_ENST00000262994.4_Missense_Mutation_p.E80K|GAB1_ENST00000505913.1_5'UTR	p.E80K	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			2	665	+	all_hematologic(180;0.158)		80	PH.	A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.238G>A	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314249	0.95655	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000514639;ENST00000509992	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	6.07	6.07	0.98685	6.07	6.07	0.98685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	N	0.17564	0.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.993	T	0.72054	-0.4406	10	0.18276	T	0.48	2.1267	20.6593	0.99626	0.0:0.0:1.0:0.0	.	80;80	Q13480;Q13480-2	GAB1_HUMAN;.	K	80;80;80;59	ENSP00000262995:E80K;ENSP00000262994:E80K;ENSP00000427435:E80K;ENSP00000425921:E59K	ENSP00000262994:E80K	E	+	1	0	0	GAB1	144556245	144556245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.771000	0.98977	2.885000	0.99019	0.655000	0.94253	GAA		0.333	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1		38.066128	-7	-7	51	51	NM_002039		13	38.479112	38.479112	21	0.382353	0	0	0	1	0	13	21	0.382353	A	144336795	G	A	144336795	3	1	56	1	0	0	0	0	1	0	0	0	6148	1291	45	3	244	3	GAB1	4	144336795	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		144336795	46817481	5	1064											
C6orf146	222826	broad.mit.edu	37	6	4069806	4069806	+	Missense_Mutation	SNP	G	G	C	rs149448787	byFrequency	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr6:4069806G>C	ENST00000274673.3	-	7	1054	c.651C>G	c.(649-651)agC>agG	p.S217R	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	217																	TTTTAAAATAGCTGAGTAAAG	0.343																																						ENST00000274673.3											0										c.(649-651)agC>agG	family with sequence similarity 217, member A						99	104	102					6																	4069806		2203	4300	6503	SO:0001583	missense	222826						g.chr6:4069806G>C	BC039349	BC039349	CCDS4489.1	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975	ENSG00000145975	ENSG00000145975				21362	21362	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 6 open reading frame 146"	C6orf146	"chromosome 6 open reading frame 146"	C6orf146				Standard	Standard	NM_173563	NM_173563		Approved	MGC43581	uc003mvx.3	uc003mvx.3	Q8IXS0	Q8IXS0	OTTHUMG00000014159	OTTHUMG00000014159	ENST00000274673.3:c.651C>G	6.37:g.4069806G>C	ENSP00000274673:p.Ser217Arg		FAM217A_ENST00000380188.2_5'UTR	p.S217R	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	1054	-			217		Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.651C>G	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248645	0.39797	.	.	ENSG00000145975	ENST00000274673;ENST00000538080;ENST00000470599	T	0.34275	1.37	5.43	4.49	0.54785	5.43	4.49	0.54785	.	0.257887	0.38436	N	0.001683	T	0.33294	0.0858	M	0.75777	2.31	0.30307	N	0.788858	D	0.53462	0.96	P	0.50537	0.643	T	0.29305	-1.0016	10	0.87932	D	0	-6.389	8.229	0.31587	0.1072:0.0:0.8928:0.0	.	217	Q8IXS0	CF146_HUMAN	R	217;64;345	ENSP00000274673:S217R	ENSP00000274673:S217R	S	-	3	2	2	C6orf146	4014805	4014805	0.608000	0.26966	1.000000	0.80357	0.119000	0.20118	0.726000	0.25984	2.827000	0.97445	0.650000	0.86243	AGC		0.343	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2		80.600578	-8	-8	102	102	NM_173563		27	82.468848	82.468848	53	0.3375	0	0	0	1	0	27	53	0.3375	C	4069806	G	C	4069806	3	2	56	1	0	0	0	0	1	0	0	0	2335	962	34	5	879	5	C6orf146	6	4069806	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		4069806	167045261	6	1065											
ARPC1B	10095	broad.mit.edu	37	7	98985821	98985821	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:98985821A>G	ENST00000451682.1	+	6	638	c.329A>G	c.(328-330)aAg>aGg	p.K110R	ARPC1B_ENST00000252725.5_Missense_Mutation_p.K110R|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	110					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AACGAGAACAAGTTTGCTGTG	0.617																																						ENST00000451682.1											0			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11						c.(328-330)aAg>aGg	actin related protein 2/3 complex, subunit 1B, 41kDa						65	61	62					7																	98985821		2203	4300	6503	SO:0001583	missense	10095			cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98985821A>G	AF006084	AF006084	CCDS5661.1	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429	ENSG00000130429	ENSG00000130429		"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	"Actin related protein 2/3 complex subunits", "WD repeat domain containing"	704	704	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)"	"ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)"	604223	604223	"actin related protein 2/3 complex, subunit 1B (41 kD)"		"actin related protein 2/3 complex, subunit 1B (41 kD)"			9230079, 9359840	9230079, 9359840	Standard	Standard	NM_005720	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	uc003upz.3	O15143	O15143	OTTHUMG00000154552	OTTHUMG00000154552	ENST00000451682.1:c.329A>G	7.37:g.98985821A>G	ENSP00000389631:p.Lys110Arg		ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.K110R	p.K110R			O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	638	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		110		Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	c.329A>G	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	a	32	5.142707	0.94560	.	.	ENSG00000130429	ENST00000252725;ENST00000455009;ENST00000417330;ENST00000431816;ENST00000427217;ENST00000458033;ENST00000451682	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.39	5.39	0.77823	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80171	0.4574	M	0.83953	2.67	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72338	0.977;0.977	T	0.82339	-0.0506	9	.	.	.	-37.2075	15.357	0.74434	1.0:0.0:0.0:0.0	.	110;110	A4D275;O15143	.;ARC1B_HUMAN	R	110	ENSP00000252725:K110R;ENSP00000410238:K110R;ENSP00000403324:K110R;ENSP00000398110:K110R;ENSP00000403211:K110R;ENSP00000388802:K110R;ENSP00000389631:K110R	.	K	+	2	0	0	ARPC1B	98823757	98823757	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	9.311000	0.96282	2.172000	0.68678	0.454000	0.30748	AAG		0.617	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1		71.984906	10	10	51	51	NM_005720		24	72.67769	72.67769	38	0.387097	0	0	0	1	0	24	38	0.387097	G	98985821	A	G	98985821	3	3	56	1	0	0	0	0	1	0	0	0	970	72	3	4	339	4	ARPC1B	7	98985821	Missense_Mutation	SNP	A	TCGA-VD-AA8O-01A-11D-A39W-08		98985821	60152842	7	1066											
FAM40B	57464	broad.mit.edu	37	7	129125472	129125472	+	Silent	SNP	C	C	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:129125472C>T	ENST00000249344.2	+	21	2347	c.2307C>T	c.(2305-2307)gcC>gcT	p.A769A	RNU1-72P_ENST00000362976.1_RNA	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	769					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											CCTTGAGGGCCAACATTGAGG	0.502																																						ENST00000249344.2											0										c.(2305-2307)gcC>gcT	striatin interacting protein 2						98	89	92					7																	129125472		2203	4300	6503	SO:0001819	synonymous_variant	57464						g.chr7:129125472C>T	AB032996	AB032996	CCDS34752.1, CCDS47709.1	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578	ENSG00000128578	ENSG00000128578				22209	22209	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"	"FAR11 factor arrest 11 homolog B (yeast)"			"family with sequence similarity 40, member B"	FAM40B	"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	22782902, 22298706, 18782753	Standard	Standard	NM_020704	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	uc011koy.2	Q9ULQ0	Q9ULQ0	OTTHUMG00000157695	OTTHUMG00000157695	ENST00000249344.2:c.2307C>T	7.37:g.129125472C>T				p.A769A	NM_020704.2	NP_065755.1					21	2347	+					Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.2307C>T	CCDS34752.1																																																																																									0.502	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1		36.151427	-3	-3	60	60	NM_001134336		16	43.259334	43.259334	66	0.195122	0	0	0	1	0	16	66	0.195122	T	129125472	C	T	129125472	2	4	56	1	0	0	0	0	0	0	0	1	5561	581	21	3		3	FAM40B	7	129125472	Silent	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08	30139651	129125472	30013191	8	1067											
PLXNA4	91584	broad.mit.edu	37	7	131910977	131910977	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr7:131910977G>A	ENST00000359827.3	-	8	2887	c.1925C>T	c.(1924-1926)aCc>aTc	p.T642I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T642I			Q9HCM2	PLXA4_HUMAN	plexin A4	642					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCATGCCGGTCTCCTTTGA	0.562																																						ENST00000359827.3											0			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1924-1926)aCc>aTc	plexin A4						154	155	154					7																	131910977		2026	4187	6213	SO:0001583	missense	91584				integral to membrane|intracellular|plasma membrane		g.chr7:131910977G>A	AB046770, AK123428	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866	ENSG00000221866	ENSG00000221866		"Plexins"	"Plexins"	9102	9102	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604280	604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B				Standard	Standard	NM_181775	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	uc003vra.4	Q9HCM2	Q9HCM2	OTTHUMG00000155108	OTTHUMG00000155108	ENST00000359827.3:c.1925C>T	7.37:g.131910977G>A	ENSP00000352882:p.Thr642Ile		PLXNA4_ENST00000321063.4_Missense_Mutation_p.T642I	p.T642I			Q9HCM2	PLXA4_HUMAN			8	2887	-			642		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1925C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545095	0.65198	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.01106	5.33;5.33	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	M	0.73962	2.25	0.80722	D	1	D	0.58970	0.984	P	0.58331	0.837	T	0.05533	-1.0879	10	0.66056	D	0.02	.	18.9935	0.92803	0.0:0.0:1.0:0.0	.	642	Q9HCM2	PLXA4_HUMAN	I	642	ENSP00000323194:T642I;ENSP00000352882:T642I	ENSP00000323194:T642I	T	-	2	0	0	PLXNA4	131561517	131561517	1.000000	0.71417	0.981000	0.43875	0.099000	0.18886	9.786000	0.99046	2.675000	0.91044	0.591000	0.81541	ACC		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		203.707887	4	4	115	115	NM_181775		67	203.958256	203.958256	80	0.455782	0	0	0	1	0	67	80	0.455782	A	131910977	G	A	131910977	3	1	56	1	0	0	0	0	1	0	0	0	12122	1261	44	3	3859	3	PLXNA4	7	131910977	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08	2785505	131910977	27227686	9	1068											
GRID1	2894	broad.mit.edu	37	10	87362425	87362425	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr10:87362425G>A	ENST00000327946.7	-	16	2720	c.2635C>T	c.(2635-2637)Cgc>Tgc	p.R879C	RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R450C|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	879					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGTTCATGCGCCGGTGGACC	0.577										Multiple Myeloma(13;0.14)																												ENST00000327946.7											0			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2635-2637)Cgc>Tgc	glutamate receptor, ionotropic, delta 1						45	38	40					10																	87362425		2203	4300	6503	SO:0001583	missense	2894				cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87362425G>A	AB033046	AB033046	CCDS31236.1	CCDS31236.1	10q22	2012-08-29			2012-08-29			ENSG00000182771	ENSG00000182771	ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	4575	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610659	610659								Standard	Standard	NM_017551	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	uc001kdl.1	Q9ULK0	Q9ULK0	OTTHUMG00000018650	OTTHUMG00000018650	ENST00000327946.7:c.2635C>T	10.37:g.87362425G>A	ENSP00000330148:p.Arg879Cys		GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.R450C	p.R879C	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			16	2720	-			879		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2635C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633451	0.87660	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.17691	2.51;2.26	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.472007	0.23204	N	0.050742	T	0.41511	0.1162	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.10497	-1.0627	10	0.87932	D	0	.	18.8961	0.92424	0.0:0.0:1.0:0.0	.	879	Q9ULK0	GRID1_HUMAN	C	879;450	ENSP00000330148:R879C;ENSP00000444455:R450C	ENSP00000330148:R879C	R	-	1	0	0	GRID1	87352405	87352405	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.987000	0.88182	2.703000	0.92315	0.591000	0.81541	CGC		0.577	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3		16.946799	-1	-1	17	17	XM_043613		6	17.077932	17.077932	9	0.4	0	0	0	1	0	6	9	0.4	A	87362425	G	A	87362425	3	1	56	1	0	0	0	0	1	0	0	0	6771	1087	38	1	398	1	GRID1	10	87362425	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		87362425	48172322	10	1069											
ATG2A	23130	broad.mit.edu	37	11	64677225	64677225	+	Missense_Mutation	SNP	G	G	A	rs533644989		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr11:64677225G>A	ENST00000377264.3	-	14	2147	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	ATG2A_ENST00000421419.2_Missense_Mutation_p.R679W	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	679					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.R679R(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCTCTGACCGGAACTGGGGC	0.682													G|||	1	0.000199681	0	0	5008	,	,		14019	0		0	False		,,,				2504	0.001					ENST00000421419.2											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2035-2037)Cgg>Tgg	autophagy related 2A						34	38	37					11																	64677225		2201	4297	6498	SO:0001583	missense	23130					protein binding	g.chr11:64677225G>A			CCDS31602.1	CCDS31602.1	11q13.1	2014-02-12	2012-06-06		2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046	ENSG00000110046	ENSG00000110046				29028	29028	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"ATG2 autophagy related 2 homolog A (S. cerevisiae)"		"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	21887408	Standard	Standard	NM_015104	NM_015104		Approved	KIAA0404	uc001obx.3	uc001obx.3	Q2TAZ0	Q2TAZ0	OTTHUMG00000066831	OTTHUMG00000066831	ENST00000377264.3:c.2035C>T	11.37:g.64677225G>A	ENSP00000366475:p.Arg679Trp		ATG2A_ENST00000377264.3_Missense_Mutation_p.R679W	p.R679W			Q2TAZ0	ATG2A_HUMAN			14	2149	-			679		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.2035C>T	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.109091|4.109091	0.77096|0.77096	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07567	.|3.18;3.18	4.28|4.28	3.35|3.35	0.38373|0.38373	4.28|4.28	3.35|3.35	0.38373|0.38373	.|.	.|0.071334	.|0.56097	.|D	.|0.000032	T|T	0.15955|0.15955	0.0384|0.0384	L|L	0.44542|0.44542	1.39|1.39	0.41839|0.41839	D|D	0.990114|0.990114	.|D	.|0.76494	.|0.999	.|P	.|0.60415	.|0.874	T|T	0.00958|0.00958	-1.1500|-1.1500	5|10	.|0.87932	.|D	.|0	.|.	9.6199|9.6199	0.39714|0.39714	0.0:0.0:0.7916:0.2084|0.0:0.0:0.7916:0.2084	.|.	.|679	.|Q2TAZ0	.|ATG2A_HUMAN	L|W	480|679	.|ENSP00000410522:R679W;ENSP00000366475:R679W	.|ENSP00000366475:R679W	P|R	-|-	2|1	0|2	0|2	ATG2A|ATG2A	64433801|64433801	64433801|64433801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.644000|1.644000	0.37228|0.37228	1.133000|1.133000	0.42147|0.42147	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.682	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		-2.512283	-19	-19	32	32	NM_015104		3	6.788511	6.788511	44	0.06383	0	0	0	1	0	3	44	0.06383	A	64677225	G	A	64677225	3	1	56	1	0	0	0	0	1	0	0	0	1093	1115	39	1	3893	1	ATG2A	11	64677225	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		64677225	70329291	11	1070											
ACCN2	41	broad.mit.edu	37	12	50453720	50453720	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr12:50453720G>A	ENST00000447966.2	+	3	770	c.541G>A	c.(541-543)Gct>Act	p.A181T	ASIC1_ENST00000228468.4_Missense_Mutation_p.A181T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	181					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GGTCTGCAGCGCTGAAGACTT	0.617																																						ENST00000228468.4											0										c.(541-543)Gct>Act	acid-sensing (proton-gated) ion channel 1						58	52	54					12																	50453720		2203	4300	6503	SO:0001583	missense	41			calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50453720G>A	U78181	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	"Ion channels / Acid-sensing (proton-gated) ion channels"	100	100	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602866	602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	9037075	Standard	Standard	NM_001095	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	uc001rvv.4	P78348	P78348	OTTHUMG00000169812	OTTHUMG00000169812	ENST00000447966.2:c.541G>A	12.37:g.50453720G>A	ENSP00000400228:p.Ala181Thr		ASIC1_ENST00000447966.2_Missense_Mutation_p.A181T	p.A181T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			3	926	+			181		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.541G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362688	0.61403	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.64260	-0.09;-0.09	4.92	3.95	0.45737	4.92	3.95	0.45737	.	0.288112	0.31370	N	0.007780	T	0.62974	0.2472	M	0.73598	2.24	0.80722	D	1	B;B	0.28470	0.032;0.213	B;B	0.32624	0.149;0.045	T	0.62407	-0.6861	10	0.31617	T	0.26	-6.7734	14.1973	0.65679	0.0:0.2276:0.7724:0.0	.	181;181	P78348;P78348-1	ACCN2_HUMAN;.	T	181	ENSP00000228468:A181T;ENSP00000400228:A181T	ENSP00000228468:A181T	A	+	1	0	0	ACCN2	48739987	48739987	0.985000	0.35326	0.982000	0.44146	0.974000	0.67602	3.237000	0.51344	2.674000	0.91012	0.655000	0.94253	GCT		0.617	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2		50.738745	5	5	45	45	NM_020039		15	53.179815	53.179815	2	0.882353	0	0	0	1	0	15	2	0.882353	A	50453720	G	A	50453720	3	1	56	1	0	0	0	0	1	0	0	0	129	1087	38	1	547	1	ACCN2	12	50453720	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		50453720	83398175	12	1071											
OGFOD2	79676	broad.mit.edu	37	12	123461285	123461285	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr12:123461285G>A	ENST00000228922.7	+	3	306	c.274G>A	c.(274-276)Gca>Aca	p.A92T	OGFOD2_ENST00000538628.1_5'UTR|ABCB9_ENST00000442028.2_5'Flank|OGFOD2_ENST00000545612.1_5'UTR|OGFOD2_ENST00000545317.1_5'UTR|OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000542117.1_3'UTR|ABCB9_ENST00000542678.1_Intron|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000397389.2_Missense_Mutation_p.A32T|OGFOD2_ENST00000536150.1_5'UTR|ABCB9_ENST00000392439.3_5'Flank|OGFOD2_ENST00000454694.2_5'UTR			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	92							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CTACCACCCGGCACGGCCTGA	0.652																																						ENST00000397389.2											0			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8						c.(94-96)Gca>Aca	2-oxoglutarate and iron-dependent oxygenase domain containing 2						38	48	45					12																	123461285		2191	4287	6478	SO:0001583	missense	79676					iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123461285G>A	AK094820	AK094820	CCDS41855.1	CCDS41855.1	12q24.31	2010-11-23			2010-11-23			ENSG00000111325	ENSG00000111325	ENSG00000111325	ENSG00000111325				25823	25823	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_024623	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	uc001udz.1	Q6N063	Q6N063			ENST00000228922.7:c.274G>A	12.37:g.123461285G>A	ENSP00000228922:p.Ala92Thr		ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000545612.1_5'UTR|OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000542117.1_3'UTR|OGFOD2_ENST00000538628.1_5'UTR|OGFOD2_ENST00000454694.2_5'UTR|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000536150.1_5'UTR|OGFOD2_ENST00000228922.7_Missense_Mutation_p.A92T|OGFOD2_ENST00000545317.1_5'UTR	p.A32T	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	4	833	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		92		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	ENST00000228922.7	37	c.94G>A		.	.	.	.	.	.	.	.	.	.	G	15.82	2.944933	0.53079	.	.	ENSG00000111325	ENST00000397389;ENST00000228922;ENST00000537966	D;D	0.85955	-2.05;-2.05	5.67	2.69	0.31865	5.67	2.69	0.31865	.	0.519558	0.22682	N	0.056940	D	0.84220	0.5424	L	0.54323	1.7	0.09310	N	1	D;B;P	0.60575	0.988;0.145;0.493	P;B;B	0.56343	0.796;0.053;0.124	T	0.73294	-0.4028	10	0.39692	T	0.17	-2.0736	2.9565	0.05878	0.0931:0.2688:0.3622:0.2759	.	73;92;32	B4DZU3;Q6N063;Q6N063-2	.;OGFD2_HUMAN;.	T	32;92;165	ENSP00000380544:A32T;ENSP00000228922:A92T	ENSP00000228922:A92T	A	+	1	0	0	OGFOD2	122027238	122027238	0.012000	0.17670	0.001000	0.08648	0.001000	0.01503	1.997000	0.40786	0.715000	0.32103	-0.188000	0.12872	GCA		0.652	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1		0.997975	-27	-27	18	18	NM_024623		3	6.826659	6.826659	31	0.088235	0	0	0	1	0	3	31	0.088235	A	123461285	G	A	123461285	3	1	56	1	0	0	0	0	1	0	0	0	10842	1203	42	2	100	2	OGFOD2	12	123461285	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08	73007565	123461285	10390610	13	1072											
CYSLTR2	57105	broad.mit.edu	37	13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATTTATTTCCTGACCGTGCTG	0.468																																						ENST00000282018.3											0			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(385-387)cTg>cAg	cysteinyl leukotriene receptor 2						209	201	204					13																	49281339		2203	4300	6503	SO:0001583	missense	57105			immune response	integral to membrane|plasma membrane		g.chr13:49281339T>A	AB038269	AB038269	CCDS9412.1	CCDS9412.1	13q14.2	2012-08-10			2012-08-10			ENSG00000152207	ENSG00000152207	ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	"GPCR / Class A : Leukotriene receptors"	18274	18274	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605666	605666						10913337, 1085123	10913337, 1085123	Standard	Standard	NM_020377	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	uc001vck.2	Q9NS75	Q9NS75	OTTHUMG00000016906	OTTHUMG00000016906	ENST00000282018.3:c.386T>A	13.37:g.49281339T>A	ENSP00000282018:p.Leu129Gln			p.L129Q	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	389	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	129		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.386T>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679001	0.88542	.	.	ENSG00000152207	ENST00000282018	D	0.81579	-1.51	6.08	6.08	0.98989	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	D	0.93756	0.8004	H	0.97783	4.075	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.95820	0.8849	10	0.87932	D	0	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	129	Q9NS75	CLTR2_HUMAN	Q	129	ENSP00000282018:L129Q	ENSP00000282018:L129Q	L	+	2	0	0	CYSLTR2	48179340	48179340	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.004000	0.88535	2.333000	0.79357	0.533000	0.62120	CTG		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		105.722833	4	4	157	157			40	115.521345	115.521345	124	0.243902	0	0	0	1	0	40	124	0.243902	A	49281339	T	A	49281339	3	1	56	1	0	0	0	0	1	0	0	0	4202	1580	55	5	388	5	CYSLTR2	13	49281339	Missense_Mutation	SNP	T	TCGA-VD-AA8O-01A-11D-A39W-08		49281339	65888539	14	1073											
KCNH5	27133	broad.mit.edu	37	14	63417240	63417240	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr14:63417240C>T	ENST00000322893.7	-	7	1248	c.980G>A	c.(979-981)cGt>cAt	p.R327H	KCNH5_ENST00000394968.1_Missense_Mutation_p.R269H|KCNH5_ENST00000394964.2_Missense_Mutation_p.R269H|KCNH5_ENST00000420622.2_Missense_Mutation_p.R327H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	327					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R327L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCGTAAGAGACGCACCACTTT	0.448																																						ENST00000322893.7											1	Substitution - Missense(1)	lung(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(979-981)cGt>cAt	potassium voltage-gated channel, subfamily H (eag-related), member 5						60	61	60					14																	63417240		2203	4300	6503	SO:0001583	missense	27133			regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63417240C>T	U69185	U69185	CCDS9756.1, CCDS45122.1	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			2012-07-05			ENSG00000140015	ENSG00000140015	ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	6254	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605716	605716						9738473, 16382104	9738473, 16382104	Standard	Standard	NM_139318	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	uc001xfx.3	Q8NCM2	Q8NCM2	OTTHUMG00000029041	OTTHUMG00000029041	ENST00000322893.7:c.980G>A	14.37:g.63417240C>T	ENSP00000321427:p.Arg327His		KCNH5_ENST00000394964.2_Missense_Mutation_p.R269H|KCNH5_ENST00000394968.1_Missense_Mutation_p.R269H|KCNH5_ENST00000420622.2_Missense_Mutation_p.R327H	p.R327H	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1248	-			327		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.980G>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266527	0.95399	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.99591	-6.24;-6.24;-6.24;-6.24	5.79	5.79	0.91817	5.79	5.79	0.91817	Ion transport (1);	0.050743	0.85682	D	0.000000	D	0.99799	0.9914	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.997;0.995;0.999	D	0.97217	0.9875	10	0.87932	D	0	.	20.0206	0.97499	0.0:1.0:0.0:0.0	.	269;269;327;327	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	H	327;327;269;269	ENSP00000321427:R327H;ENSP00000395439:R327H;ENSP00000378419:R269H;ENSP00000378415:R269H	ENSP00000321427:R327H	R	-	2	0	0	KCNH5	62486993	62486993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.810000	0.86072	2.731000	0.93534	0.591000	0.81541	CGT		0.448	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		26.969662	-17	-17	31	31	NM_139318		12	31.786877	31.786877	47	0.20339	0	0	0	1	0	12	47	0.20339	T	63417240	C	T	63417240	3	4	56	1	0	0	0	0	1	0	0	0	8035	536	19	1	2040	1	KCNH5	14	63417240	Missense_Mutation	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08		63417240	43932300	15	1074											
ABR	29	broad.mit.edu	37	17	960239	960239	+	Splice_Site	SNP	G	G	A			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr17:960239G>A	ENST00000302538.5	-	13	1631	c.1485C>T	c.(1483-1485)gaC>gaT	p.D495D	ABR_ENST00000544583.2_Splice_Site_p.D449D|ABR_ENST00000536794.2_Splice_Site_p.D277D|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000574437.1_Splice_Site_p.D449D|ABR_ENST00000291107.2_Splice_Site_p.D458D	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	495	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGAGCTTACCGTCTTTATTGC	0.562																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1345-1347)gaC>gaT	active BCR-related						162	149	154					17																	960239		2203	4300	6503	SO:0001630	splice_region_variant	29			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:960239G>A	L19704	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842	ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	81	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600365	600365	"active BCR-related gene"		"active BCR-related gene"			2587217, 7479768	2587217, 7479768	Standard	Standard	NM_001092	NM_001092		Approved	MDB	uc002fsd.4	uc002fsd.4	Q12979	Q12979	OTTHUMG00000090313	OTTHUMG00000090313	ENST00000302538.5:c.1486+1C>T	17.37:g.960239G>A			ABR_ENST00000573895.1_5'UTR|ABR_ENST00000291107.2_Splice_Site_p.D458D|ABR_ENST00000536794.2_Splice_Site_p.D277D|ABR_ENST00000302538.5_Splice_Site_p.D495D|ABR_ENST00000574437.1_Splice_Site_p.D449D	p.D449D	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	13	1946	-			495	PH.	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Splice_Site	SNP	ENST00000302538.5	37	c.1347C>T	CCDS10999.1																																																																																									0.562	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		260.159126	-17	-17	187	187		Silent	85	261.457598	261.457598	120	0.414634	0	0	0	1	0	85	120	0.414634	A	960239	G	A	960239	5	1	56	1	0	0	0	0	0	0	1	0	99	1159	40	1	1138	1	ABR	17	960239	Splice_Site	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		960239	80234971	16	1075											
ILVBL	10994	broad.mit.edu	37	19	15230041	15230041	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr19:15230041G>T	ENST00000263383.3	-	9	1126	c.987C>A	c.(985-987)caC>caA	p.H329Q	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	329						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGTGGAGGGGGTGGTTGCGGC	0.642																																						ENST00000263383.3											0			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(985-987)caC>caA	ilvB (bacterial acetolactate synthase)-like						63	60	61					19																	15230041		2203	4300	6503	SO:0001583	missense	10994				integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15230041G>T	U61263	U61263	CCDS12325.1	CCDS12325.1	19p13.1	2008-07-16			2008-07-16			ENSG00000105135	ENSG00000105135	ENSG00000105135	ENSG00000105135				6041	6041	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	"acetolactate synthase homolog"	605770	605770						8954801	8954801	Standard	Standard	NM_006844	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	uc002nam.3	A1L0T0	A1L0T0	OTTHUMG00000165630	OTTHUMG00000165630	ENST00000263383.3:c.987C>A	19.37:g.15230041G>T	ENSP00000263383:p.His329Gln		ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Q	p.H329Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			9	1126	-			329		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.987C>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041387	0.55003	.	.	ENSG00000105135	ENST00000263383	T	0.54279	0.58	5.31	4.27	0.50696	5.31	4.27	0.50696	Thiamine pyrophosphate enzyme, central domain (1);	0.230150	0.49305	D	0.000144	T	0.67050	0.2852	M	0.82193	2.58	0.39279	D	0.96453	P	0.37276	0.589	P	0.50896	0.653	T	0.73030	-0.4111	10	0.66056	D	0.02	-13.1706	10.9757	0.47465	0.0906:0.0:0.9094:0.0	.	329	A1L0T0	ILVBL_HUMAN	Q	329	ENSP00000263383:H329Q	ENSP00000263383:H329Q	H	-	3	2	2	ILVBL	15091041	15091041	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	1.600000	0.36762	2.484000	0.83849	0.561000	0.74099	CAC		0.642	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1		-12.103562	13	13	107	107	NM_006844		5	9.375269	9.375269	95	0.05	1	0	0.0293803	1	0.0293803	5	95	0.05	T	15230041	G	T	15230041	3	4	56	1	0	0	0	0	1	0	0	0	7715	1252	44	5	943	5	ILVBL	19	15230041	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		15230041	43898942	17	1076											
ERCC2	2068	broad.mit.edu	37	19	45855905	45855905	+	Silent	SNP	C	C	T	rs145835916	byFrequency	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	g.chr19:45855905C>T	ENST00000391945.4	-	21	1982	c.1905G>A	c.(1903-1905)gcG>gcA	p.A635A	ERCC2_ENST00000391944.3_Silent_p.A557A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	635	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATTCCAGCCGCGCCTGCAGAT	0.597			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"		E	0			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(1903-1905)gcG>gcA	excision repair cross-complementing rodent repair deficiency, complementation group 2	C		0,4406		0,0,2203	36	36	36		1905	-11.5	0	19	dbSNP_134	36	8,8590	5.7+/-21.5	0,8,4291	no	coding-synonymous	ERCC2	NM_000400.3		0,8,6494	TT,TC,CC		0.093,0.0,0.0615		635/761	45855905	8,12996	2203	4299	6502	SO:0001819	synonymous_variant	2068	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45855905C>T			CCDS33049.1, CCDS46112.1	CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	"General transcription factor IIH complex subunits"	3434	3434	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	8413672, 2184031	Standard	Standard	NM_000400	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	uc002pbj.2	P18074	P18074	OTTHUMG00000048190	OTTHUMG00000048190	ENST00000391945.4:c.1905G>A	19.37:g.45855905C>T			ERCC2_ENST00000391944.3_Silent_p.A557A	p.A635A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	21	1982	-		Ovarian(192;0.0728)|all_neural(266;0.112)	635	Mediates interaction with MMS19.	Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.1905G>A	CCDS33049.1																																																																																									0.597	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		15.506481	-13	-13	38	38	NM_000400		7	18.233456	18.233456	27	0.205882	0	0	0	1	0	7	27	0.205882	T	45855905	C	T	45855905	2	4	56	1	0	0	0	0	0	0	0	1	5213	755	27	1		1	ERCC2	19	45855905	Silent	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08	30625864	45855905	13273078	18	1077											
CTDSP1	58190	broad.mit.edu	37	2	219268127	219268127	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr2:219268127A>G	ENST00000273062.2	+	6	980	c.644A>G	c.(643-645)cAt>cGt	p.H215R	MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.H214R	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	215	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATGTCTTCCATCCAGACAAT	0.607																																						ENST00000273062.2											0			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8						c.(643-645)cAt>cGt	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1						61	63	62					2																	219268127		2203	4300	6503	SO:0001583	missense	58190			protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219268127A>G	AF229162	AF229162	CCDS2416.1, CCDS56166.1	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			2010-06-21			ENSG00000144579	ENSG00000144579	ENSG00000144579	ENSG00000144579		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	21614	21614	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nuclear LIM interactor-interacting factor", "small CTD phosphatase 1"	"nuclear LIM interactor-interacting factor", "small CTD phosphatase 1"	605323	605323						11950066, 12721286	11950066, 12721286	Standard	Standard	NM_021198	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	uc021vwv.1	Q9GZU7	Q9GZU7	OTTHUMG00000133109	OTTHUMG00000133109	ENST00000273062.2:c.644A>G	2.37:g.219268127A>G	ENSP00000273062:p.His215Arg		CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.H214R	p.H215R	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	980	+		Renal(207;0.0915)	215	FCP1 homology.	C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	37	c.644A>G	CCDS2416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.22|19.22	3.786513|3.786513	0.70337|0.70337	.|.	.|.	ENSG00000144579|ENSG00000144579	ENST00000443891;ENST00000273062|ENST00000452977;ENST00000428361	T;T|.	0.17691|.	2.26;2.26|.	4.64|4.64	4.64|4.64	0.57946|0.57946	4.64|4.64	4.64|4.64	0.57946|0.57946	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88243|0.88243	0.6384|0.6384	H|H	0.98664|0.98664	4.295|4.295	0.80722|0.80722	D|D	1|1	P;P|.	0.46277|.	0.875;0.875|.	P;P|.	0.59288|.	0.855;0.855|.	D|D	0.92137|0.92137	0.5717|0.5717	10|5	0.72032|.	D|.	0.01|.	-21.5941|-21.5941	13.051|13.051	0.58954|0.58954	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	215;214|.	Q9GZU7;C9IYG0|.	CTDS1_HUMAN;.|.	R|V	214;215|208;216	ENSP00000392248:H214R;ENSP00000273062:H215R|.	ENSP00000273062:H215R|.	H|I	+|+	2|1	0|0	0|0	CTDSP1|CTDSP1	218976371|218976371	218976371|218976371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.763000|0.763000	0.43281|0.43281	9.273000|9.273000	0.95719|0.95719	1.724000|1.724000	0.51502|0.51502	0.402000|0.402000	0.26972|0.26972	CAT|ATC		0.607	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1		42.755984	-10	-10	36	36	NM_182642, NM_021198		14	43.327669	43.327669	24	0.368421	0	0	0	1	0	14	24	0.368421	G	219268127	A	G	219268127	3	3	57	1	0	0	0	0	1	0	0	0	4003	217	8	4	666	4	CTDSP1	2	219268127	Missense_Mutation	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		219268127	23931246	1	1078											
C3orf54	7318	broad.mit.edu	37	3	49842221	49842221	+	IGR	SNP	C	C	A			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr3:49842221C>A	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Missense_Mutation_p.P222H	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGTGCTCGGCCCCCTCAGTTC	0.657																																						ENST00000333323.4											0										c.(664-666)cCc>cAc	family with sequence similarity 212, member A						78	84	82					3																	49842221		2203	4300	6503	SO:0001628	intergenic_variant	389119						g.chr3:49842221C>A	BC006378	BC012170	CCDS2805.1	CCDS2804.1	3p21	2007-11-30	2007-11-30	2007-11-30	2011-11-24	2011-11-24	2011-11-24	ENSG00000182179	ENSG00000182179	ENSG00000185614	ENSG00000185614		"Ubiquitin-like modifier activating enzymes"		12471	32480	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)", "UBA7, ubiquitin-activating enzyme E1"		191325		"ubiquitin-activating enzyme E1-like"	UBE1L	"chromosome 3 open reading frame 54"	C3orf54		8327486		Standard	Standard	NM_003335	NM_203370		Approved	D8, UBE2, UBA1B	uc003cxr.3	uc003cxq.1	P41226	Q96EL1	OTTHUMG00000158267	OTTHUMG00000158268		3.37:g.49842221C>A				p.P222H	NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN			2	798	+			220		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.665C>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836245	0.71373	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.51477	D	0.000095	T	0.74253	0.3692	L	0.44542	1.39	0.51233	D	0.999919	D	0.89917	1.0	D	0.91635	0.999	T	0.76061	-0.3097	9	0.72032	D	0.01	.	18.4034	0.90525	0.0:1.0:0.0:0.0	.	220	Q96EL1	CC054_HUMAN	H	222	.	ENSP00000329735:P222H	P	+	2	0	0	C3orf54	49817225	49817225	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.950000	0.63603	2.686000	0.91538	0.561000	0.74099	CCC		0.657	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1		153.842289	-26	-26	96	96	NM_003335		48	162.842988	162.842988	4	0.923077	1	0	6.9144e-35	1	7.18033e-35	48	4	0.923077	A	49842221	C	A	49842221	1	1	57	0	1	0	0	0	0	0	0	0	2233	623	22	5		5	C3orf54	3	49842221	IGR	SNP	C	TCGA-VD-AA8P-01A-11D-A39W-08		49842221	148180209	2	1079											
TWF2	11344	broad.mit.edu	37	3	52263159	52263159	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr3:52263159G>C	ENST00000305533.5	-	9	1184	c.941C>G	c.(940-942)cCc>cGc	p.P314R	TLR9_ENST00000597542.1_Intron|TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron|TLR9_ENST00000360658.2_5'Flank	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	314					barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTGTTGCTTGGGGTGCACCTC	0.642																																						ENST00000305533.5											0			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(940-942)cCc>cGc	twinfilin actin-binding protein 2						119	106	110					3																	52263159		2203	4300	6503	SO:0001583	missense	11344						g.chr3:52263159G>C	Y17169	Y17169	CCDS2849.1	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596	ENSG00000247596	ENSG00000247596				9621	9621	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607433	607433	"protein tyrosine kinase 9-like (A6-related protein)", "PTK9L protein tyrosine kinase 9-like (A6-related protein)", "twinfilin, actin-binding protein, homolog 2 (Drosophila)"	PTK9L	"protein tyrosine kinase 9-like (A6-related protein)", "PTK9L protein tyrosine kinase 9-like (A6-related protein)", "twinfilin, actin-binding protein, homolog 2 (Drosophila)"	PTK9L		10406962, 12807912	10406962, 12807912	Standard	Standard	NM_007284	NM_007284		Approved	A6RP, A6r			Q6IBS0	Q6IBS0	OTTHUMG00000158105	OTTHUMG00000158105	ENST00000305533.5:c.941C>G	3.37:g.52263159G>C	ENSP00000303908:p.Pro314Arg		TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron|TLR9_ENST00000597542.1_Intron	p.P314R	NM_007284.3	NP_009215.1				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1184	-					Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.941C>G	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442530	0.83993	.	.	ENSG00000247596	ENST00000305533	T	0.31769	1.48	5.04	4.16	0.48862	5.04	4.16	0.48862	.	.	.	.	.	T	0.59838	0.2223	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67538	-0.5645	9	0.87932	D	0	.	13.3672	0.60692	0.0764:0.0:0.9236:0.0	.	314	Q6IBS0	TWF2_HUMAN	R	314	ENSP00000303908:P314R	ENSP00000303908:P314R	P	-	2	0	0	TWF2	52238199	52238199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.824000	0.99380	1.120000	0.41904	0.561000	0.74099	CCC		0.642	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2		94.573558	-14	-14	92	92			29	98.79631	98.79631	2	0.935484	0	0	0	1	0	29	2	0.935484	C	52263159	G	C	52263159	3	2	57	1	0	0	0	0	1	0	0	0	16779	1232	43	5	112	5	TWF2	3	52263159	Missense_Mutation	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	2420938	52263159	145759271	3	1080											
FAM13B	51306	broad.mit.edu	37	5	137288386	137288386	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr5:137288386C>A	ENST00000033079.3	-	16	2246	c.1795G>T	c.(1795-1797)Gat>Tat	p.D599Y	FAM13B_ENST00000425075.2_Missense_Mutation_p.D503Y|FAM13B_ENST00000420893.2_Missense_Mutation_p.D599Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	599					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GCAGCAATATCACTGTAGGAG	0.333																																						ENST00000033079.3											0			endometrium(4)|kidney(2)|lung(5)	11						c.(1795-1797)Gat>Tat	family with sequence similarity 13, member B						96	101	99					5																	137288386		2203	4300	6503	SO:0001583	missense	0			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137288386C>A	AF251038	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	"Rho GTPase activating proteins"	1335	1335	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609371	609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	11087669, 11161817	Standard	Standard	NM_016603	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	uc003lbz.2	Q9NYF5	Q9NYF5	OTTHUMG00000129202	OTTHUMG00000129202	ENST00000033079.3:c.1795G>T	5.37:g.137288386C>A	ENSP00000033079:p.Asp599Tyr		FAM13B_ENST00000420893.2_Missense_Mutation_p.D599Y|FAM13B_ENST00000425075.2_Missense_Mutation_p.D503Y	p.D599Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			16	2246	-			599		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.1795G>T	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716476	0.89205	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95756	-3.8;0.53;-3.8	6.05	6.05	0.98169	6.05	6.05	0.98169	.	0.048468	0.85682	D	0.000000	D	0.97892	0.9307	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98027	1.0374	10	0.87932	D	0	-16.9519	20.2037	0.98272	0.0:1.0:0.0:0.0	.	503;599;599	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	Y	599;503;599	ENSP00000033079:D599Y;ENSP00000394669:D503Y;ENSP00000388521:D599Y	ENSP00000033079:D599Y	D	-	1	0	0	FAM13B	137316285	137316285	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.784000	0.75084	2.866000	0.98385	0.650000	0.86243	GAT		0.333	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		148.323741	30	30	152	152			42	155.446364	155.446364	3	0.933333	1	0	1.51926e-22	1	1.51926e-22	42	3	0.933333	A	137288386	C	A	137288386	3	1	57	1	0	0	0	0	1	0	0	0	5453	826	29	5	984	5	FAM13B	5	137288386	Missense_Mutation	SNP	C	TCGA-VD-AA8P-01A-11D-A39W-08		137288386	43626874	4	1081											
SYBU	55638	broad.mit.edu	37	8	110590198	110590198	+	Silent	SNP	G	G	T			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr8:110590198G>T	ENST00000422135.1	-	7	1298	c.783C>A	c.(781-783)ccC>ccA	p.P261P	SYBU_ENST00000532779.1_Silent_p.P193P|SYBU_ENST00000408889.3_Silent_p.P142P|SYBU_ENST00000433638.1_Silent_p.P261P|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000446070.2_Silent_p.P260P|SYBU_ENST00000419099.1_Silent_p.P260P|SYBU_ENST00000529690.1_Silent_p.P131P|SYBU_ENST00000528647.1_Silent_p.P260P|SYBU_ENST00000408908.2_Silent_p.P261P|SYBU_ENST00000399066.3_Silent_p.P258P|SYBU_ENST00000533895.1_Silent_p.P260P|SYBU_ENST00000528331.1_Silent_p.P142P|SYBU_ENST00000276646.9_Silent_p.P261P|SYBU_ENST00000533171.1_Silent_p.P261P|SYBU_ENST00000533065.1_Silent_p.P142P|SYBU_ENST00000529175.1_Silent_p.P55P|SYBU_ENST00000440310.1_Silent_p.P261P|SYBU_ENST00000424158.2_Silent_p.P266P	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	261	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTGGGTTTGGGGGTCTGACAC	0.453																																						ENST00000399066.3											0			NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(772-774)ccC>ccA	syntabulin (syntaxin-interacting)						201	194	196					8																	110590198		1986	4174	6160	SO:0001819	synonymous_variant	55638				cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110590198G>T	AB040905	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27			2010-08-27				ENSG00000147642		ENSG00000147642				26011	26011	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"syntaphilin-like"	"syntaphilin-like"	611568	611568						17611281, 16750881, 16157705, 15656992, 15459722	17611281, 16750881, 16157705, 15656992, 15459722	Standard	Standard	NM_001099743	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	uc003ynj.4	Q9NX95	Q9NX95			ENST00000422135.1:c.783C>A	8.37:g.110590198G>T			SYBU_ENST00000408889.3_Silent_p.P142P|SYBU_ENST00000422135.1_Silent_p.P261P|SYBU_ENST00000529690.1_Silent_p.P131P|SYBU_ENST00000446070.2_Silent_p.P260P|SYBU_ENST00000533171.1_Silent_p.P261P|SYBU_ENST00000408908.2_Silent_p.P261P|SYBU_ENST00000433638.1_Silent_p.P261P|SYBU_ENST00000528331.1_Silent_p.P142P|SYBU_ENST00000533065.1_Silent_p.P142P|SYBU_ENST00000529175.1_Silent_p.P55P|SYBU_ENST00000276646.9_Silent_p.P261P|SYBU_ENST00000424158.2_Silent_p.P266P|SYBU_ENST00000533895.1_Silent_p.P260P|SYBU_ENST00000440310.1_Silent_p.P261P|SYBU_ENST00000532779.1_Silent_p.P193P|SYBU_ENST00000528647.1_Silent_p.P260P|SYBU_ENST00000419099.1_Silent_p.P260P|SYBU_ENST00000527707.1_5'UTR	p.P258P	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			5	1501	-			261	Sufficient for interaction with KIF5B.	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	c.774C>A	CCDS47912.1																																																																																									0.453	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1		311.629677	-58	-58	117	117	NM_017786		96	313.810838	313.810838	57	0.627451	1	0	3.78979e-47	1	4.09297e-47	96	57	0.627451	T	110590198	G	T	110590198	2	4	57	1	0	0	0	0	0	0	0	1	15424	1219	43	5		5	SYBU	8	110590198	Silent	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08		110590198	35773824	5	1082											
C8orf31	286122	broad.mit.edu	37	8	144124604	144124604	+	Silent	SNP	G	G	A			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr8:144124604G>A	ENST00000395172.1	+	3	463	c.111G>A	c.(109-111)ggG>ggA	p.G37G	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	37										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGCCCAGGGGCTGCTGGCTG	0.642																																						ENST00000395172.1											0			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10						c.(109-111)ggG>ggA	chromosome 8 open reading frame 31						36	39	38					8																	144124604		2203	4300	6503	SO:0001819	synonymous_variant	286122						g.chr8:144124604G>A			CCDS6395.1	CCDS6395.1	8q24.3	2012-04-11			2012-04-11			ENSG00000177335	ENSG00000177335	ENSG00000177335	ENSG00000177335				26731	26731	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_173687	NM_173687		Approved	FLJ37131	uc003yxp.1	uc003yxp.1	Q8N9H6	Q8N9H6	OTTHUMG00000164771	OTTHUMG00000164771	ENST00000395172.1:c.111G>A	8.37:g.144124604G>A			C8orf31_ENST00000517653.1_3'UTR	p.G37G	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN			3	463	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		37		Q6GMU7	Silent	SNP	ENST00000395172.1	37	c.111G>A	CCDS6395.1																																																																																									0.642	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1		73.929014	-1	-1	20	20	NM_173687		23	74.203306	74.203306	16	0.589744	0	0	0	1	0	23	16	0.589744	A	144124604	G	A	144124604	2	1	57	1	0	0	0	0	0	0	0	1	2420	1190	42	2		2	C8orf31	8	144124604	Silent	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	33534406	144124604	2239418	6	1083											
TMEM2	23670	broad.mit.edu	37	9	74324303	74324303	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr9:74324303T>C	ENST00000377044.4	-	17	3396	c.2857A>G	c.(2857-2859)Att>Gtt	p.I953V	TMEM2_ENST00000377066.5_Missense_Mutation_p.I890V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	953					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GAGCCATCAATGTCATGGAAT	0.448																																						ENST00000377044.4											0			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(2857-2859)Att>Gtt	transmembrane protein 2						219	184	195					9																	74324303		2203	4300	6503	SO:0001583	missense	23670				integral to membrane		g.chr9:74324303T>C			CCDS6638.1, CCDS47979.1	CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			2011-07-19			ENSG00000135048	ENSG00000135048	ENSG00000135048	ENSG00000135048				11869	11869	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605835	605835								Standard	Standard	NM_013390	NM_013390		Approved		uc011lsa.1	uc011lsa.1	Q9UHN6	Q9UHN6	OTTHUMG00000020000	OTTHUMG00000020000	ENST00000377044.4:c.2857A>G	9.37:g.74324303T>C	ENSP00000366243:p.Ile953Val		TMEM2_ENST00000377066.5_Missense_Mutation_p.I890V	p.I953V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	17	3396	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	953		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2857A>G	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	0.803	-0.754578	0.03041	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000377043	T;T;T	0.42900	0.96;0.96;0.96	5.67	-5.47	0.02600	5.67	-5.47	0.02600	Pectin lyase fold/virulence factor (1);	0.901261	0.09718	N	0.764883	T	0.08758	0.0217	N	0.00224	-1.81	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44034	-0.9354	10	0.02654	T	1	.	13.5683	0.61832	0.0:0.6285:0.1083:0.2632	.	953;890	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	V	953;890;54	ENSP00000366243:I953V;ENSP00000366266:I890V;ENSP00000366242:I54V	ENSP00000366242:I54V	I	-	1	0	0	TMEM2	73514123	73514123	0.000000	0.05858	0.001000	0.08648	0.904000	0.53231	-1.121000	0.03270	-0.943000	0.03691	-0.479000	0.04858	ATT		0.448	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2		82.986282	-9	-9	70	70	NM_013390		28	83.113316	83.113316	34	0.451613	0	0	0	1	0	28	34	0.451613	C	74324303	T	C	74324303	3	2	57	1	0	0	0	0	1	0	0	0	16118	1464	51	4	1326	4	TMEM2	9	74324303	Missense_Mutation	SNP	T	TCGA-VD-AA8P-01A-11D-A39W-08		74324303	66889128	7	1084											
OSGIN1	29948	broad.mit.edu	37	16	83999242	83999242	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr16:83999242A>G	ENST00000343939.2	+	7	1696	c.1313A>G	c.(1312-1314)tAt>tGt	p.Y438C	OSGIN1_ENST00000393306.1_Missense_Mutation_p.Y355C|OSGIN1_ENST00000361711.3_Missense_Mutation_p.Y355C|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	438					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCCAGCCCCTATGAGGGTTAC	0.617																																						ENST00000343939.2											0			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1312-1314)tAt>tGt	oxidative stress induced growth inhibitor 1						87	79	82					16																	83999242		2200	4300	6500	SO:0001583	missense	29948			cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999242A>G	AY258066	AY258066	CCDS10939.1	CCDS10939.1	16q23.3	2010-11-23			2010-11-23			ENSG00000140961	ENSG00000140961	ENSG00000140961	ENSG00000140961				30093	30093	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975	607975						11459809, 14570898	11459809, 14570898	Standard	Standard	NM_182981	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	uc002fhc.3	Q9UJX0	Q9UJX0	OTTHUMG00000137640	OTTHUMG00000137640	ENST00000343939.2:c.1313A>G	16.37:g.83999242A>G	ENSP00000343376:p.Tyr438Cys		OSGIN1_ENST00000361711.3_Missense_Mutation_p.Y355C|OSGIN1_ENST00000393306.1_Missense_Mutation_p.Y355C	p.Y438C			Q9UJX0	OSGI1_HUMAN			7	1696	+			438		Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.1313A>G		.	.	.	.	.	.	.	.	.	.	A	16.91	3.253680	0.59212	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.48201	0.82;0.82;0.82	4.8	3.65	0.41850	4.8	3.65	0.41850	.	0.125086	0.56097	D	0.000023	T	0.59252	0.2180	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.64042	0.921	T	0.59182	-0.7502	10	0.42905	T	0.14	-24.9902	10.0644	0.42295	0.85:0.0:0.0:0.1499	.	438	Q9UJX0	OSGI1_HUMAN	C	438;355;355	ENSP00000343376:Y438C;ENSP00000355374:Y355C;ENSP00000376983:Y355C	ENSP00000343376:Y438C	Y	+	2	0	0	OSGIN1	82556743	82556743	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.901000	0.69861	1.794000	0.52575	0.383000	0.25322	TAT		0.617	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1		60.160568	-22	-22	33	33	NM_013370		18	60.221462	60.221462	15	0.545455	0	0	0	1	0	18	15	0.545455	G	83999242	A	G	83999242	3	3	57	1	0	0	0	0	1	0	0	0	11289	449	16	4	1339	4	OSGIN1	16	83999242	Missense_Mutation	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		83999242	6355511	8	1085											
SLC13A5	284111	broad.mit.edu	37	17	6594096	6594096	+	Splice_Site	SNP	A	A	T			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr17:6594096A>T	ENST00000433363.2	-	10	1671		c.e10+1		SLC13A5_ENST00000381074.4_Splice_Site|SLC13A5_ENST00000293800.6_Splice_Site|SLC13A5_ENST00000573648.1_Splice_Site	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5						transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAGGTTACTTACCATGGAGGC	0.552																																						ENST00000433363.2											0			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.e10+1	solute carrier family 13 (sodium-dependent citrate transporter), member 5						211	187	195					17																	6594096		2203	4300	6503	SO:0001630	splice_region_variant	284111				integral to membrane	citrate transmembrane transporter activity	g.chr17:6594096A>T	AJ489980	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			2013-05-22			ENSG00000141485	ENSG00000141485	ENSG00000141485	ENSG00000141485		"Solute carriers"	"Solute carriers"	23089	23089	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608305	608305						12445824	12445824	Standard	Standard	NM_001284510	NM_001284510		Approved	NACT	uc002gdj.3	uc002gdj.3	Q86YT5	Q86YT5	OTTHUMG00000102052	OTTHUMG00000102052	ENST00000433363.2:c.1437+1T>A	17.37:g.6594096A>T			SLC13A5_ENST00000293800.6_Splice_Site|SLC13A5_ENST00000573648.1_Splice_Site|SLC13A5_ENST00000381074.4_Splice_Site		NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN			10	1671	-					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Splice_Site	SNP	ENST00000433363.2	37		CCDS11079.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942801	0.73672	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	.	.	.	4.8	4.8	0.61643	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.606	0.56523	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SLC13A5	6534820	6534820	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.396000	0.90190	1.920000	0.55613	0.533000	0.62120	.		0.552	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2		117.307649	-22	-22	99	99	NM_177550	Intron	39	117.971739	117.971739	56	0.410526	0	0	0	1	0	39	56	0.410526	T	6594096	A	T	6594096	5	4	57	1	0	0	0	0	0	0	1	0	14395	405	14	5	279	5	SLC13A5	17	6594096	Splice_Site	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		6594096	74601114	9	1086											
BRCA1	672	broad.mit.edu	37	17	41244681	41244681	+	Missense_Mutation	SNP	G	G	C	rs80357961|rs80357819		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr17:41244681G>C	ENST00000357654.3	-	10	2985	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S909C|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S956C|BRCA1_ENST00000309486.4_Missense_Mutation_p.S660C|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S956C|BRCA1_ENST00000354071.3_Missense_Mutation_p.S956C|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	956					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTGAACTGAGATGATAGACA	0.393			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(1978-1980)tCt>tGt	breast cancer 1, early onset						120	119	120					17																	41244681		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244681G>C	U14680	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			2014-09-17			ENSG00000012048	ENSG00000012048	ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	1100	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705	113705						1676470	1676470	Standard	Standard	NM_007300	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	uc002ict.3	P38398	P38398	OTTHUMG00000157426	OTTHUMG00000157426	ENST00000357654.3:c.2867C>G	17.37:g.41244681G>C	ENSP00000350283:p.Ser956Cys		BRCA1_ENST00000354071.3_Missense_Mutation_p.S956C|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.S956C|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S956C|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S909C|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S956C|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron	p.S660C	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	3006	-		Breast(137;0.000717)	956		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1979C>G	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	8.488	0.861394	0.17178	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.04	1.78	0.24846	5.04	1.78	0.24846	.	0.847511	0.10115	N	0.714129	D	0.88209	0.6375	M	0.90922	3.16	0.09310	N	1	D;D;D;D;D;P	0.76494	0.999;0.999;0.999;0.974;0.996;0.819	D;D;D;P;P;P	0.75484	0.921;0.921;0.986;0.854;0.908;0.464	T	0.73392	-0.3997	10	0.87932	D	0	.	4.9292	0.13909	0.1682:0.0:0.5368:0.295	.	956;915;956;956;956;956	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	C	956;956;956;956;660;956;909	ENSP00000350283:S956C;ENSP00000326002:S956C;ENSP00000246907:S956C;ENSP00000310938:S660C;ENSP00000418960:S956C;ENSP00000418775:S909C	ENSP00000310938:S660C	S	-	2	0	0	BRCA1	38498207	38498207	0.003000	0.15002	0.176000	0.23000	0.009000	0.06853	-0.005000	0.12855	0.699000	0.31761	-0.188000	0.12872	TCT		0.393	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2		-28.436974	-11	-11	173	173	NM_007294		4	7.843319	7.843319	143	0.027211	0	0	0	1	0	4	143	0.027211	C	41244681	G	C	41244681	3	2	57	1	0	0	0	0	1	0	0	0	1498	942	33	5	2850	5	BRCA1	17	41244681	Missense_Mutation	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	34650585	41244681	39950529	10	1087											
DNAH17	8632	broad.mit.edu	37	17	76563118	76563118	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr17:76563118G>A	ENST00000585328.1	-	10	1539	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	DNAH17_ENST00000389840.5_Missense_Mutation_p.A472V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	472	Stem. {ECO:0000250}.				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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTGCAGTCGGCAAAAACCTT	0.567																																						ENST00000389840.5											0			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1414-1416)gCc>gTc	dynein, axonemal, heavy chain 17						68	57	61					17																	76563118		2203	4300	6503	SO:0001583	missense	8632						g.chr17:76563118G>A	AJ000522	AJ000522			17q25.3	2012-04-19	2006-09-04		2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	"Axonemal dyneins"	2946	2946	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610063	610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	9545504	Standard	Standard	NM_173628	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	uc010dhp.2	Q9UFH2	Q9UFH2			ENST00000585328.1:c.1415C>T	17.37:g.76563118G>A	ENSP00000465516:p.Ala472Val		DNAH17_ENST00000585328.1_Missense_Mutation_p.A472V	p.A472V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		10	1539	-					O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1415C>T		.	.	.	.	.	.	.	.	.	.	G	8.418	0.845762	0.16963	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.56275	0.47	4.92	2.93	0.34026	4.92	2.93	0.34026	.	0.643900	0.13370	N	0.393012	T	0.46092	0.1375	L	0.54323	1.7	0.24140	N	0.995735	B	0.13145	0.007	B	0.16722	0.016	T	0.34428	-0.9829	10	0.30078	T	0.28	.	9.5094	0.39067	0.168:0.0:0.832:0.0	.	174	Q9UFH2-4	.	V	472	ENSP00000374490:A472V	ENSP00000300671:A472V	A	-	2	0	0	DNAH17	74074713	74074713	0.865000	0.29922	0.042000	0.18584	0.248000	0.25809	3.514000	0.53422	0.609000	0.30018	0.561000	0.74099	GCC		0.567	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		6.482257	4	4	23	23	NM_173628		4	9.238291	9.238291	21	0.16	0	0	0	1	0	4	21	0.16	A	76563118	G	A	76563118	3	1	57	1	0	0	0	0	1	0	0	0	4601	1203	42	2	12261	2	DNAH17	17	76563118	Missense_Mutation	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	35318437	76563118	4632092	11	1088											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		97.891640	-14	-14	67	67	NM_002067		32	98.185519	98.185519	42	0.432432	0	0	0	1	0	32	42	0.432432	T	3118942	A	T	3118942	3	4	57	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		3118942	56010041	12	1089											
ZNF446	55663	broad.mit.edu	37	19	58991009	58991009	+	Splice_Site	SNP	G	G	C			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr19:58991009G>C	ENST00000594369.1	+	5	1008		c.e5-1		ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000596341.1_Splice_Site	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.?(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CACATCCGCAGGAGGAGTGGG	0.582																																						ENST00000596341.1											1	Unknown(1)	endometrium(1)	endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.e5-1	zinc finger protein 446						93	78	83					19																	58991009		2203	4300	6503	SO:0001630	splice_region_variant	55663			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991009G>C			CCDS12982.1	CCDS12982.1	19q13.43	2013-01-09			2013-01-09				ENSG00000083838		ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	"Zinc fingers, C2H2-type", "-", "-", "-"	21036	21036	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_017908	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	uc002qsz.3	Q9NWS9	Q9NWS9			ENST00000594369.1:c.628-1G>C	19.37:g.58991009G>C			ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000594369.1_Splice_Site				Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	5	2847	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)				Splice_Site	SNP	ENST00000594369.1	37		CCDS12982.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131978	0.56828	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	4.35	4.35	0.52113	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5628	0.56293	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ZNF446	63682821	63682821	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.745000	0.47459	2.423000	0.82170	0.561000	0.74099	.		0.582	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1		24.026209	-9	-9	11	11	NM_017908	Intron	7	24.042947	24.042947	6	0.538462	0	0	0	1	0	7	6	0.538462	C	58991009	G	C	58991009	5	2	57	1	0	0	0	0	0	0	1	0	17916	1014	35	5	641	5	ZNF446	19	58991009	Splice_Site	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	55872067	58991009	137974	13	1090											
CDH4	1002	broad.mit.edu	37	20	60470052	60470065	+	Frame_Shift_Del	DEL	CATCACGGTGACAG	CATCACGGTGACAG	-	rs149375024|rs145754297		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr20:60470052_60470065delCATCACGGTGACAG	ENST00000360469.5	+	8	1225_1238	c.1137_1150delCATCACGGTGACAG	c.(1135-1152)atcatcacggtgacagatfs	p.ITVTD380fs	CDH4_ENST00000543233.1_Frame_Shift_Del_p.ITVTD306fs	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	380	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCACAGCCATCATCACGGTGACAGATGTGAATGA	0.547																																						ENST00000360469.5											0			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1135-1152)atcatcacggtgacagatfs	cadherin 4, type 1, R-cadherin (retinal)																																			SO:0001589	frameshift_variant	1002			adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60470052_60470065delCATCACGGTGACAG	L34059	L34059	CCDS13488.1, CCDS58784.1	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			2010-01-26			ENSG00000179242	ENSG00000179242	ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	"Cadherins / Major cadherins"	1763	1763	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"R-Cadherin"	"R-Cadherin"	603006	603006						10191097, 10516427	10191097, 10516427	Standard	Standard	NM_001794	NM_001794		Approved		uc002ybn.2	uc002ybn.2	P55283	P55283	OTTHUMG00000032890	OTTHUMG00000032890	ENST00000360469.5:c.1137_1150delCATCACGGTGACAG	20.37:g.60470052_60470065delCATCACGGTGACAG	ENSP00000353656:p.Ile380fs		CDH4_ENST00000543233.1_Frame_Shift_Del_p.ITVTD306fs	p.ITVTD380fs	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		8	1225_1238	+			380	Cadherin 2.	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Frame_Shift_Del	DEL	ENST00000360469.5	37	c.1137_1150delCATCACGGTGACAG	CCDS13488.1																																																																																									0.547	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	.	.	-33	-33	127	127	NM_001794		28			73	0.28						28	73	0.28	-	60470065	CATCACGGTGACAG	-	60470052	7	5	57	1	0	1	0	1	0	0	0	0	3112	816	29	0	1167	0	CDH4	20	60470052	Frame_Shift_Del	DEL	CATCACGGTGACAG	TCGA-VD-AA8P-01A-11D-A39W-08		60470052	2555468	14	1091											
DCAF8L2	347442	broad.mit.edu	37	X	27766141	27766141	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chrX:27766141G>A	ENST00000451261.2	+	5	1528	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	377										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTGAATCCCGCCAATACCTA	0.408																																						ENST00000451261.2											0			central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1129-1131)Gcc>Acc	DDB1 and CUL4 associated factor 8-like 2						107	80	89					X																	27766141		692	1591	2283	SO:0001583	missense	347442						g.chrX:27766141G>A			CCDS59162.1	CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		ENSG00000189186		"WD repeat domain containing"	"WD repeat domain containing"	31811	31811	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"WD repeat domain 42C"	WDR42C	"WD repeat domain 42C"	WDR42C				Standard	Standard	NM_001136533	NM_001136533		Approved		uc011mjy.2	uc011mjy.2	P0C7V8	P0C7V8			ENST00000451261.2:c.1129G>A	X.37:g.27766141G>A	ENSP00000462745:p.Ala377Thr			p.A377T	NM_001136533.1	NP_001130005.1					5	1528	+					B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1129G>A	CCDS59162.1																																																																																									0.408	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4		-0.507307	4	4	62	62	XM_293354		3	7.172112	7.172112	38	0.073171	0	0	0	1	0	3	38	0.073171	A	27766141	G	A	27766141	3	1	57	1	0	0	0	0	1	0	0	0	4278	1087	38	1	1131	1	DCAF8L2	23	27766141	Missense_Mutation	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08		27766141	127504419	15	1092											
TMEM35	59353	broad.mit.edu	37	X	100349757	100349757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chrX:100349757C>T	ENST00000372930.4	+	2	599	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	TRMT2B-AS1_ENST00000443801.2_RNA|TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	106						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CTTCTTCCACCAGCTGGTCGG	0.577																																						ENST00000372930.4											0			NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(316-318)Cag>Tag	transmembrane protein 35						250	183	206					X																	100349757		2203	4300	6503	SO:0001587	stop_gained	59353				cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100349757C>T	AK024146	AK024146	CCDS14478.1	CCDS14478.1	Xq22	2008-02-05			2008-02-05			ENSG00000126950	ENSG00000126950	ENSG00000126950	ENSG00000126950				25864	25864	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_021637	NM_021637		Approved	FLJ14084	uc004egw.3	uc004egw.3	Q53FP2	Q53FP2	OTTHUMG00000022016	OTTHUMG00000022016	ENST00000372930.4:c.316C>T	X.37:g.100349757C>T	ENSP00000362021:p.Gln106*		TMEM35_ENST00000478351.1_3'UTR	p.Q106*	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN			2	599	+			106		Q9H7Y3	Nonsense_Mutation	SNP	ENST00000372930.4	37	c.316C>T	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	C	37	6.294758	0.97449	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.052538	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-34.3831	18.3931	0.90490	0.0:1.0:0.0:0.0	.	.	.	.	X	106;65	.	ENSP00000362021:Q106X	Q	+	1	0	0	TMEM35	100236413	100236413	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.267000	0.78462	2.284000	0.76573	0.594000	0.82650	CAG		0.577	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1		141.613520	-22	-22	84	84	NM_021637		47	141.668591	141.668591	52	0.474747	0	0	0	1	0	47	52	0.474747	T	100349757	C	T	100349757	4	4	57	1	0	0	0	0	0	1	0	0	16154	595	21	3	322	3	TMEM35	23	100349757	Nonsense_Mutation	SNP	C	TCGA-VD-AA8P-01A-11D-A39W-08	72583616	100349757	54920803	16	1093											
RAB33A	9363	broad.mit.edu	37	X	129318341	129318341	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chrX:129318341T>C	ENST00000257017.4	+	2	755	c.341T>C	c.(340-342)gTc>gCc	p.V114A		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	114					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						CATGCCGTGGTCTTCGTCTAT	0.502																																						ENST00000257017.4											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(340-342)gTc>gCc	RAB33A, member RAS oncogene family						162	122	135					X																	129318341		2203	4300	6503	SO:0001583	missense	9363			protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318341T>C	D14889	D14889	CCDS14621.1	CCDS14621.1	Xq26	2008-02-05			2008-02-05			ENSG00000134594	ENSG00000134594	ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	"RAB, member RAS oncogene"	9773	9773	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300333	300333						7688322, 9512502	7688322, 9512502	Standard	Standard	NM_004794	NM_004794		Approved	RabS10	uc004evl.3	uc004evl.3	Q14088	Q14088	OTTHUMG00000022391	OTTHUMG00000022391	ENST00000257017.4:c.341T>C	X.37:g.129318341T>C	ENSP00000257017:p.Val114Ala			p.V114A	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	755	+			114		Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	c.341T>C	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298518	0.81025	.	.	ENSG00000134594	ENST00000257017	D	0.81996	-1.56	4.71	4.71	0.59529	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89753	0.6806	M	0.69523	2.12	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90910	0.4775	10	0.87932	D	0	-19.3113	13.6381	0.62233	0.0:0.0:0.0:1.0	.	114	Q14088	RB33A_HUMAN	A	114	ENSP00000257017:V114A	ENSP00000257017:V114A	V	+	2	0	0	RAB33A	129146022	129146022	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.997000	0.88414	1.663000	0.50791	0.350000	0.21858	GTC		0.502	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1		73.718073	-9	-9	48	48	NM_004794		23	74.038824	74.038824	32	0.418182	0	0	0	1	0	23	32	0.418182	C	129318341	T	C	129318341	3	2	57	1	0	0	0	0	1	0	0	0	12922	1667	58	4	347	4	RAB33A	23	129318341	Missense_Mutation	SNP	T	TCGA-VD-AA8P-01A-11D-A39W-08	28968584	129318341	25952219	17	1094											
ACTRT2	140625	broad.mit.edu	37	1	2939192	2939192	+	Silent	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr1:2939192G>A	ENST00000378404.2	+	1	1147	c.942G>A	c.(940-942)cgG>cgA	p.R314R		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	314						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGGATGACCGGCTTCTCAAGG	0.607																																						ENST00000378404.2											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(940-942)cgG>cgA	actin-related protein T2						50	58	55					1																	2939192		2203	4299	6502	SO:0001819	synonymous_variant	140625				cytoplasm|cytoskeleton		g.chr1:2939192G>A	AF440740, AB057364	AF440740, AB057364	CCDS45.1	CCDS45.1	1p36.3	2008-02-05	2005-11-22		2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717	ENSG00000169717	ENSG00000169717				24026	24026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608535	608535						11750065, 12243744	11750065, 12243744	Standard	Standard	NM_080431	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	uc001ajz.3	Q8TDY3	Q8TDY3	OTTHUMG00000000562	OTTHUMG00000000562	ENST00000378404.2:c.942G>A	1.37:g.2939192G>A				p.R314R	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1147	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	314		B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.942G>A	CCDS45.1																																																																																									0.607	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1		75.275826	-5	-5	78	78	NM_080431		25	75.292249	75.292249	27	0.480769	0	0	0	1	0	25	27	0.480769	A	2939192	G	A	2939192	2	1	58	1	0	0	0	0	0	0	0	1	219	1190	42	2		2	ACTRT2	1	2939192	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		2939192	246311429	1	1095											
GAP43	2596	broad.mit.edu	37	3	115395065	115395065	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:115395065A>C	ENST00000305124.6	+	2	602	c.236A>C	c.(235-237)gAg>gCg	p.E79A	GAP43_ENST00000393780.3_Missense_Mutation_p.E115A	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	79					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GATGGGGTGGAGAAGAAGGGA	0.537																																						ENST00000393780.3											0			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(343-345)gAg>gCg	growth associated protein 43						81	78	79					3																	115395065		2203	4300	6503	SO:0001583	missense	2596			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395065A>C			CCDS33830.1, CCDS46890.1	CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			2013-09-19			ENSG00000172020	ENSG00000172020	ENSG00000172020	ENSG00000172020				4140	4140	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060	162060						3272162, 8231732	3272162, 8231732	Standard	Standard	NM_002045	NM_002045		Approved	B-50, PP46	uc003ebr.2	uc003ebr.2	P17677	P17677	OTTHUMG00000133758	OTTHUMG00000133758	ENST00000305124.6:c.236A>C	3.37:g.115395065A>C	ENSP00000305010:p.Glu79Ala		GAP43_ENST00000305124.6_Missense_Mutation_p.E79A	p.E115A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	812	+			79		A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.344A>C	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.604969	0.28623	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.60920	0.15;0.15	4.62	3.42	0.39159	4.62	3.42	0.39159	Neuromodulin (GAP-43), C-terminal (1);	0.205951	0.42548	N	0.000698	T	0.46964	0.1420	L	0.45228	1.405	0.42532	D	0.993044	B;B	0.25772	0.134;0.006	B;B	0.20767	0.031;0.011	T	0.43212	-0.9405	10	0.46703	T	0.11	-7.7158	10.5671	0.45179	0.6893:0.3107:0.0:0.0	.	115;79	A8K0Y4;P17677	.;NEUM_HUMAN	A	79;115	ENSP00000305010:E79A;ENSP00000377372:E115A	ENSP00000305010:E79A	E	+	2	0	0	GAP43	116877755	116877755	1.000000	0.71417	0.983000	0.44433	0.898000	0.52572	3.627000	0.54252	0.865000	0.35603	0.533000	0.62120	GAG		0.537	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2		56.242453	-19	-19	45	45	NM_002045		19	56.268787	56.268787	21	0.475	0	0	0	1	0	19	21	0.475	C	115395065	A	C	115395065	3	2	58	1	0	0	0	0	1	0	0	0	6235	304	11	5	384	5	GAP43	3	115395065	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08		115395065	82627365	2	1096											
KY	339855	broad.mit.edu	37	3	134343938	134343938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:134343938delA	ENST00000423778.2	-	6	501	c.440delT	c.(439-441)ctgfs	p.L147fs	KY_ENST00000503669.1_Frame_Shift_Del_p.L147fs|KY_ENST00000508041.1_5'UTR|KY_ENST00000508956.1_Frame_Shift_Del_p.L126fs	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	147					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCAGGTCCAGGGACATGGA	0.567																																						ENST00000508956.1											0			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(376-378)ctgfs	kyphoscoliosis peptidase						67	71	70					3																	134343938		2028	4195	6223	SO:0001589	frameshift_variant	339855				cytoskeleton|Z disc	peptidase activity	g.chr3:134343938delA	AK090526	AK090526	CCDS46920.1	CCDS46920.1	3q22.1	2010-11-23			2010-11-23			ENSG00000174611	ENSG00000174611	ENSG00000174611	ENSG00000174611				26576	26576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605739	605739								Standard	Standard	NM_178554	NM_178554		Approved	FLJ33207	uc010hty.3	uc010hty.3	Q8NBH2	Q8NBH2	OTTHUMG00000159788	OTTHUMG00000159788	ENST00000423778.2:c.440delT	3.37:g.134343938delA	ENSP00000397598:p.Leu147fs		KY_ENST00000423778.2_Frame_Shift_Del_p.L147fs|KY_ENST00000503669.1_Frame_Shift_Del_p.L147fs|KY_ENST00000508041.1_5'UTR	p.L126fs			Q8NBH2	KY_HUMAN			5	434	-			147		B7Z1S4|Q6ZT15	Frame_Shift_Del	DEL	ENST00000423778.2	37	c.377delT	CCDS46920.1																																																																																									0.567	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	.	.	6	6	10	10	NM_178554		2			4	0.33						2	4	0.33	-	134343938	A	-	134343938	7	5	58	1	0	1	0	1	0	0	0	0	8586	188	7	0	1569	0	KY	3	134343938	Frame_Shift_Del	DEL	A	TCGA-VD-AA8Q-01A-11D-A39W-08	18948873	134343938	63678492	3	1097											
RASA2	5922	broad.mit.edu	37	3	141231112	141231112	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:141231112A>C	ENST00000452898.1	+	2	276	c.241A>C	c.(241-243)Aaa>Caa	p.K81Q	RASA2_ENST00000286364.3_Missense_Mutation_p.K81Q	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	81	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGTTGTGGAAAAATCTTTAAG	0.284																																						ENST00000286364.3											0			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(241-243)Aaa>Caa	RAS p21 protein activator 2						57	60	59					3																	141231112		2203	4298	6501	SO:0001583	missense	5922			intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141231112A>C	AF115573	AF115573	CCDS3117.1	CCDS3117.1	3q22-q23	2013-01-10			2013-01-10			ENSG00000155903	ENSG00000155903	ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	9872	9872	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601589	601589						8699317	8699317	Standard	Standard	NM_006506	NM_006506		Approved	GAP1M	uc003etz.1	uc003etz.1	Q15283	Q15283	OTTHUMG00000160221	OTTHUMG00000160221	ENST00000452898.1:c.241A>C	3.37:g.141231112A>C	ENSP00000391677:p.Lys81Gln		RASA2_ENST00000452898.1_Missense_Mutation_p.K81Q	p.K81Q			Q15283	RASA2_HUMAN			2	276	+			81	C2 1.	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.241A>C		.	.	.	.	.	.	.	.	.	.	A	23.9	4.468870	0.84533	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.73152	-0.72;-0.72	5.37	5.37	0.77165	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.117590	0.56097	D	0.000030	D	0.84897	0.5574	M	0.85945	2.785	0.53688	D	0.999976	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.969;0.982	D	0.87294	0.2301	10	0.66056	D	0.02	.	14.3518	0.66708	1.0:0.0:0.0:0.0	.	81;81;81	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	Q	81	ENSP00000286364:K81Q;ENSP00000391677:K81Q	ENSP00000286364:K81Q	K	+	1	0	0	RASA2	142713802	142713802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.749000	0.85096	2.033000	0.60031	0.533000	0.62120	AAA		0.284	RASA2-201	KNOWN	basic	protein_coding	protein_coding			60.047636	-11	-11	70	70	NM_006506		18	60.097745	60.097745	21	0.461538	0	0	0	1	0	18	21	0.461538	C	141231112	A	C	141231112	3	2	58	1	0	0	0	0	1	0	0	0	13061	15	1	5	247	5	RASA2	3	141231112	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08	6887174	141231112	56791318	4	1098											
EXOC2	55770	broad.mit.edu	37	6	610103	610103	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr6:610103A>G	ENST00000230449.4	-	7	872	c.737T>C	c.(736-738)cTg>cCg	p.L246P	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	246					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTACTGTTCAGAACATTCTC	0.368																																						ENST00000230449.4											0			breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(736-738)cTg>cCg	exocyst complex component 2						145	136	139					6																	610103		2202	4300	6502	SO:0001583	missense	55770			exocytosis|protein transport			g.chr6:610103A>G	AJ420556	AJ420556	CCDS34327.1	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685	ENSG00000112685	ENSG00000112685				24968	24968	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615329	615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	12575951, 12459492	Standard	Standard	NM_018303	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	uc003mtd.4	Q96KP1	Q96KP1	OTTHUMG00000137437	OTTHUMG00000137437	ENST00000230449.4:c.737T>C	6.37:g.610103A>G	ENSP00000230449:p.Leu246Pro		EXOC2_ENST00000448181.3_Intron	p.L246P	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	7	872	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	246		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.737T>C	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.186355	0.78789	.	.	ENSG00000112685	ENST00000230449	T	0.55760	0.5	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.69833	-0.5038	10	0.87932	D	0	-12.8069	15.5852	0.76475	1.0:0.0:0.0:0.0	.	246	Q96KP1	EXOC2_HUMAN	P	246	ENSP00000230449:L246P	ENSP00000230449:L246P	L	-	2	0	0	EXOC2	555103	555103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.629000	0.90983	2.068000	0.61886	0.533000	0.62120	CTG		0.368	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1		48.544942	7	7	67	67	NM_018303		17	48.688334	48.688334	22	0.435897	0	0	0	1	0	17	22	0.435897	G	610103	A	G	610103	3	3	58	1	0	0	0	0	1	0	0	0	5302	188	7	4	2125	4	EXOC2	6	610103	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08		610103	170504964	5	1099											
C6orf167	253714	broad.mit.edu	37	6	97599676	97599678	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr6:97599676_97599678delTTC	ENST00000275053.4	-	23	3716_3718	c.3451_3453delGAA	c.(3451-3453)gaadel	p.E1151del	MMS22L_ENST00000369251.2_In_Frame_Del_p.E1111del	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1151					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGAGGAAGGTTCTTCTTCTGAC	0.438																																						ENST00000275053.4											0			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3451-3453)gaadel	MMS22-like, DNA repair protein																																			SO:0001651	inframe_deletion	253714			double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97599676_97599678delTTC			CCDS5039.1	CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263	ENSG00000146263	ENSG00000146263				21475	21475	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615614	615614	"chromosome 6 open reading frame 167"	C6orf167	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	21055983, 21055984	Standard	Standard	NM_198468	NM_198468		Approved	dJ39B17.2	uc003ppb.3	uc003ppb.3	Q6ZRQ5	Q6ZRQ5	OTTHUMG00000015248	OTTHUMG00000015248	ENST00000275053.4:c.3451_3453delGAA	6.37:g.97599682_97599684delTTC	ENSP00000275053:p.Glu1151del		MMS22L_ENST00000369251.2_In_Frame_Del_p.E1111del	p.E1151del	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			23	3716_3718	-			1151		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	In_Frame_Del	DEL	ENST00000275053.4	37	c.3451_3453delGAA	CCDS5039.1																																																																																									0.438	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	.	.	-13	-13	224	224	NM_198468		81			152	0.35						81	152	0.35	-	97599678	TTC	-	97599676	7	5	58	1	0	1	0	1	0	0	0	0	2342	1722	60	0	290	0	C6orf167	6	97599676	In_Frame_Del	DEL	TTC	TCGA-VD-AA8Q-01A-11D-A39W-08	96989573	97599676	73515391	6	1100											
NUDT1	4521	broad.mit.edu	37	7	2284320	2284320	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr7:2284320delC	ENST00000397046.1	+	3	208	c.111delC	c.(109-111)ggcfs	p.G37fs	NUDT1_ENST00000343985.4_Frame_Shift_Del_p.G60fs|NUDT1_ENST00000397048.1_Frame_Shift_Del_p.G60fs|FTSJ2_ENST00000440306.2_5'Flank|NUDT1_ENST00000356714.1_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000339737.2_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000397049.1_Frame_Shift_Del_p.G60fs|FTSJ2_ENST00000486040.1_5'Flank|FTSJ2_ENST00000242257.8_5'Flank	NM_198950.1	NP_945188.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	78					ATP catabolic process (GO:0006200)|dATP catabolic process (GO:0046061)|dGTP catabolic process (GO:0006203)|DNA protection (GO:0042262)|DNA repair (GO:0006281)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide catabolic process (GO:0006195)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|ATP diphosphatase activity (GO:0047693)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GCTTTGGGGGCAAAGTGCAAG	0.617								Modulation of nucleotide pools																														ENST00000397049.1											0			large_intestine(3)|lung(8)|urinary_tract(1)	12						c.(178-180)ggcfs	nudix (nucleoside diphosphate linked moiety X)-type motif 1						43	43	43					7																	2284320		2203	4300	6503	SO:0001589	frameshift_variant	4521			DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2284320delC	D16581	D16581	CCDS5329.1, CCDS5330.1	CCDS5329.1, CCDS5330.1	7p22	2008-07-18			2008-07-18			ENSG00000106268	ENSG00000106268	ENSG00000106268	ENSG00000106268		"Nudix motif containing"	"Nudix motif containing"	8048	8048	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"mutT human homolog 1", "nudix motif 1", "8-oxo-7,8-dihydrodeoxyguanosine triphosphatase", "8-oxo-dGTPase", "7,8-dihydro-8-oxoguanine triphosphatase", "8-oxo-7,8-dihydroguanosine triphosphatase", "nucleoside diphosphate-linked moiety X-type motif 1"	"mutT human homolog 1", "nudix motif 1", "8-oxo-7,8-dihydrodeoxyguanosine triphosphatase", "8-oxo-dGTPase", "7,8-dihydro-8-oxoguanine triphosphatase", "8-oxo-7,8-dihydroguanosine triphosphatase", "nucleoside diphosphate-linked moiety X-type motif 1"	600312	600312		MTH1		MTH1		7713494, 8226881	7713494, 8226881	Standard	Standard	NM_002452	NM_002452		Approved		uc003slp.1	uc003slp.1	P36639	P36639	OTTHUMG00000023072	OTTHUMG00000023072	ENST00000397046.1:c.111delC	7.37:g.2284320delC	ENSP00000380239:p.Gly37fs		NUDT1_ENST00000356714.1_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000397046.1_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000339737.2_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000343985.4_Frame_Shift_Del_p.G60fs|NUDT1_ENST00000397048.1_Frame_Shift_Del_p.G60fs	p.G60fs	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	3	282	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	78	Nudix hydrolase.	A4D205|Q6LES7|Q6P0Y6|Q7Z7N6|Q8IV95|Q9UBM0|Q9UBM9	Frame_Shift_Del	DEL	ENST00000397046.1	37	c.180delC	CCDS5330.1																																																																																									0.617	NUDT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206922.1	.	.	-1	-1	14	14	NM_002452		2			4	0.33						2	4	0.33	-	2284320	C	-	2284320	7	5	58	1	0	1	0	1	0	0	0	0	10725	697	25	0	186	0	NUDT1	7	2284320	Frame_Shift_Del	DEL	C	TCGA-VD-AA8Q-01A-11D-A39W-08		2284320	156854343	7	1101											
FASTK	10922	broad.mit.edu	37	7	150776028	150776028	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr7:150776028A>C	ENST00000297532.6	-	3	663	c.586T>G	c.(586-588)Ttg>Gtg	p.L196V	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000482571.1_Missense_Mutation_p.L196V|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.L55V|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	196					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AGGGGCTGCAAAGGGGGAGGT	0.622																																						ENST00000297532.6											0			lung(4)|stomach(2)	6						c.(586-588)Ttg>Gtg	Fas-activated serine/threonine kinase						22	21	21					7																	150776028		2199	4295	6494	SO:0001583	missense	10922			apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150776028A>C			CCDS5918.1, CCDS5919.1, CCDS59088.1	CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			2006-07-06			ENSG00000164896	ENSG00000164896	ENSG00000164896	ENSG00000164896				24676	24676	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606965	606965						7544399, 15572676	7544399, 15572676	Standard	Standard	NM_006712	NM_006712		Approved	FAST	uc003wix.2	uc003wix.2	Q14296	Q14296	OTTHUMG00000158694	OTTHUMG00000158694	ENST00000297532.6:c.586T>G	7.37:g.150776028A>C	ENSP00000297532:p.Leu196Val		FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.L55V|FASTK_ENST00000482571.1_Missense_Mutation_p.L196V	p.L196V	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	3	663	-			196		A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.586T>G	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	A	6.926	0.540501	0.13250	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.33865	2.19;1.95;1.39	4.31	1.08	0.20341	4.31	1.08	0.20341	.	1.099010	0.07232	N	0.862668	T	0.22205	0.0535	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.26547	0.152;0.039;0.039	B;B;B	0.29176	0.099;0.034;0.021	T	0.32214	-0.9915	10	0.51188	T	0.08	-30.2411	5.1637	0.15075	0.1336:0.0:0.6618:0.2046	.	196;55;196	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	V	196;196;55;196;196	ENSP00000324817:L55V;ENSP00000297532:L196V;ENSP00000418516:L196V	ENSP00000297530:L196V	L	-	1	2	2	FASTK	150406961	150406961	0.001000	0.12720	0.131000	0.22000	0.191000	0.23601	0.575000	0.23729	0.480000	0.27534	-0.261000	0.10672	TTG		0.622	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2		14.672810	4	4	29	29	NM_006712		5	14.745564	14.745564	7	0.416667	0	0	0	1	0	5	7	0.416667	C	150776028	A	C	150776028	3	2	58	1	0	0	0	0	1	0	0	0	5684	11	1	5	1095	5	FASTK	7	150776028	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08	148491708	150776028	8362635	8	1102											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		65.022693	-28	-28	84	84	NM_002072		22	67.594207	67.594207	51	0.30137	0	0	0	1	0	22	51	0.30137	G	80409488	T	G	80409488	3	3	58	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-AA8Q-01A-11D-A39W-08		80409488	60803943	9	1103											
TTF1	7270	broad.mit.edu	37	9	135251526	135251526	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr9:135251526G>C	ENST00000334270.2	-	11	2533	c.2494C>G	c.(2494-2496)Cta>Gta	p.L832V	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	832					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AGCAAAGGTAGAGTCGTCTCA	0.403																																						ENST00000334270.2											0			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2494-2496)Cta>Gta	transcription termination factor, RNA polymerase I						124	118	120					9																	135251526		2203	4300	6503	SO:0001583	missense	7270			negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251526G>C	BC050734	BC050734	CCDS6948.1, CCDS75925.1	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			2008-02-05			ENSG00000125482	ENSG00000125482	ENSG00000125482	ENSG00000125482				12397	12397	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600777	600777						7597036	7597036	Standard	Standard	NM_007344	NM_007344		Approved		uc004cbl.3	uc004cbl.3	Q15361	Q15361	OTTHUMG00000020836	OTTHUMG00000020836	ENST00000334270.2:c.2494C>G	9.37:g.135251526G>C	ENSP00000333920:p.Leu832Val		TTF1_ENST00000461970.1_5'UTR	p.L832V	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2533	-		Myeloproliferative disorder(178;0.204)	832		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.2494C>G	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352701	0.41700	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11712	2.75	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.380127	0.21668	N	0.070909	T	0.25382	0.0617	L	0.61218	1.895	0.09310	N	1	D	0.67145	0.996	P	0.57620	0.824	T	0.03068	-1.1076	10	0.66056	D	0.02	.	14.4204	0.67180	0.0:0.0:1.0:0.0	.	832	Q15361	TTF1_HUMAN	V	832	ENSP00000333920:L832V	ENSP00000245588:L832V	L	-	1	2	2	TTF1	134241347	134241347	0.871000	0.30034	0.040000	0.18447	0.258000	0.26162	2.307000	0.43682	2.560000	0.86352	0.558000	0.71614	CTA		0.403	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2		58.763229	0	0	65	65	NM_007344		18	59.074531	59.074531	26	0.409091	0	0	0	1	0	18	26	0.409091	C	135251526	G	C	135251526	3	2	58	1	0	0	0	0	1	0	0	0	16715	933	33	5	227	5	TTF1	9	135251526	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	54842038	135251526	5961905	10	1104											
C10orf47	254427	broad.mit.edu	37	10	11911649	11911649	+	Frame_Shift_Del	DEL	C	C	-	rs559376073	byFrequency	TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr10:11911649delC	ENST00000277570.5	+	4	706	c.552delC	c.(550-552)cacfs	p.H184fs	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_5'UTR	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	184	Pro-rich.																CGGTGGAGCACCCCAGACTCC	0.701																																						ENST00000277570.5											0										c.(550-552)cacfs	proline and serine-rich protein 2						11	12	12					10																	11911649		2189	4288	6477	SO:0001589	frameshift_variant	254427						g.chr10:11911649delC	BC017269	BC017269	CCDS7085.1	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426	ENSG00000148426	ENSG00000148426				23728	23728	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47	"chromosome 10 open reading frame 47", "proline and serine-rich protein 2"	C10orf47		12477932	12477932	Standard	Standard	NM_153256	NM_153256		Approved	MGC35403	uc001ikx.3	uc001ikx.3	Q86WR7	Q86WR7	OTTHUMG00000017673	OTTHUMG00000017673	ENST00000277570.5:c.552delC	10.37:g.11911649delC	ENSP00000277570:p.His184fs		PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000379200.1_5'UTR	p.H184fs	NM_153256.3	NP_694988.3					4	706	+					D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Frame_Shift_Del	DEL	ENST00000277570.5	37	c.552delC	CCDS7085.1																																																																																									0.701	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	.	.	-4	-4	7	7	NM_153256		2			4	0.33						2	4	0.33	-	11911649	C	-	11911649	7	5	58	1	0	1	0	1	0	0	0	0	1605	506	18	0	562	0	C10orf47	10	11911649	Frame_Shift_Del	DEL	C	TCGA-VD-AA8Q-01A-11D-A39W-08		11911649	123623098	11	1105											
IFIT3	3437	broad.mit.edu	37	10	91099758	91099758	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr10:91099758C>T	ENST00000371818.4	+	2	1526	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A449V|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	449					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTAAGGGATGCCCCTTCAGGC	0.498																																						ENST00000371818.4											0			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(1345-1347)gCc>gTc	interferon-induced protein with tetratricopeptide repeats 3						74	75	75					10																	91099758		2203	4300	6503	SO:0001583	missense	3437			type I interferon-mediated signaling pathway		protein binding	g.chr10:91099758C>T	U52513	U52513	CCDS7402.1, CCDS31241.1	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	5411	5411	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604650	604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	9828129, 9391139	Standard	Standard	NM_001031683	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	uc001kgg.3	O14879	O14879	OTTHUMG00000018708	OTTHUMG00000018708	ENST00000371818.4:c.1346C>T	10.37:g.91099758C>T	ENSP00000360883:p.Ala449Val		LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A449V	p.A449V	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	1526	+			449		Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.1346C>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734826	0.30774	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.13196	2.61;2.61	4.65	0.621	0.17643	4.65	0.621	0.17643	.	1.124900	0.06953	N	0.814954	T	0.06005	0.0156	N	0.14661	0.345	0.09310	N	1	B	0.26318	0.146	B	0.19148	0.024	T	0.40813	-0.9543	10	0.13853	T	0.58	0.0712	1.3313	0.02136	0.1389:0.3907:0.245:0.2254	.	449	O14879	IFIT3_HUMAN	V	449;449;270	ENSP00000360883:A449V;ENSP00000360876:A449V	ENSP00000360876:A449V	A	+	2	0	0	IFIT3	91089738	91089738	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.216000	0.09266	0.032000	0.15435	-0.140000	0.14226	GCC		0.498	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1		-0.908817	2	2	71	71	NM_001549		3	6.772586	6.772586	38	0.073171	0	0	0	1	0	3	38	0.073171	T	91099758	C	T	91099758	3	4	58	1	0	0	0	0	1	0	0	0	7524	739	26	2	1361	2	IFIT3	10	91099758	Missense_Mutation	SNP	C	TCGA-VD-AA8Q-01A-11D-A39W-08	79188109	91099758	44434989	12	1106											
DEAF1	10522	broad.mit.edu	37	11	679783	679783	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr11:679783G>A	ENST00000382409.3	-	8	1515	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.S255L	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	344					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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGTGCCCCCGAGGTCGTGAT	0.652																																						ENST00000382409.3											0			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1030-1032)tCg>tTg	DEAF1 transcription factor						65	58	60					11																	679783		2203	4300	6503	SO:0001583	missense	10522			embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:679783G>A	AF049460	AF049460	CCDS31327.1	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030	ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	"Zinc fingers, MYND-type"	14677	14677	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602635	602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"		"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	9773984	Standard	Standard	XR_428838	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	uc001lqq.1	O75398	O75398	OTTHUMG00000165363	OTTHUMG00000165363	ENST00000382409.3:c.1031C>T	11.37:g.679783G>A	ENSP00000371846:p.Ser344Leu		DEAF1_ENST00000338675.6_Missense_Mutation_p.S255L|DEAF1_ENST00000525904.1_5'UTR	p.S344L	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	8	1515	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	344		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.1031C>T	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328934	0.60743	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.69561	-0.41	3.37	3.37	0.38596	3.37	3.37	0.38596	.	0.000000	0.64402	D	0.000004	T	0.59128	0.2171	L	0.34521	1.04	0.46954	D	0.999261	D	0.63046	0.992	P	0.45610	0.487	T	0.66752	-0.5844	10	0.66056	D	0.02	-14.6476	14.0456	0.64704	0.0:0.0:1.0:0.0	.	344	O75398	DEAF1_HUMAN	L	344;255;330;267	ENSP00000371846:S344L	ENSP00000341902:S255L	S	-	2	0	0	DEAF1	669783	669783	1.000000	0.71417	0.838000	0.33150	0.153000	0.21895	8.737000	0.91562	1.909000	0.55274	0.460000	0.39030	TCG		0.652	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3		20.119548	-1	-1	40	40	NM_021008		7	20.516316	20.516316	13	0.35	0	0	0	1	0	7	13	0.35	A	679783	G	A	679783	3	1	58	1	0	0	0	0	1	0	0	0	4380	1059	37	1	686	1	DEAF1	11	679783	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		679783	134326733	13	1107											
RARG	5916	broad.mit.edu	37	12	53606945	53606945	+	Silent	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr12:53606945G>C	ENST00000425354.2	-	9	1588	c.1101C>G	c.(1099-1101)cgC>cgG	p.R367R	RARG_ENST00000327550.3_Silent_p.R295R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Silent_p.R345R|RARG_ENST00000338561.5_Silent_p.R356R|RARG_ENST00000394426.1_Silent_p.R367R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	367	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGGCCGCCGGCGCCGGGCGT	0.602											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2											0			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1099-1101)cgC>cgG	retinoic acid receptor, gamma						48	47	48					12																	53606945		2203	4300	6503	SO:0001819	synonymous_variant	5916			canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53606945G>C	M57707	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			2013-01-16			ENSG00000172819	ENSG00000172819	ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	"Nuclear hormone receptors"	9866	9866	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180190	180190						1849262	1849262	Standard	Standard	NM_001042728	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	uc001scf.3	P13631	P13631	OTTHUMG00000048077	OTTHUMG00000048077	ENST00000425354.2:c.1101C>G	12.37:g.53606945G>C		993	RARG_ENST00000327550.3_Silent_p.R295R|RARG_ENST00000543726.1_Silent_p.R345R|RARG_ENST00000338561.5_Silent_p.R356R|RARG_ENST00000394426.1_Silent_p.R367R|RARG_ENST00000543762.1_5'UTR	p.R367R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			9	1588	-			367	Ligand-binding.	B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	c.1101C>G	CCDS8850.1																																																																																									0.602	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		69.747831	13	13	70	70	NM_000966		22	69.752679	69.752679	23	0.488889	0	0	0	1	0	22	23	0.488889	C	53606945	G	C	53606945	2	2	58	1	0	0	0	0	0	0	0	1	13054	1190	42	5		5	RARG	12	53606945	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		53606945	80244950	14	1108											
CDH24	64403	broad.mit.edu	37	14	23522740	23522740	+	Silent	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr14:23522740G>A	ENST00000267383.5	-	6	1283	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	CDH24_ENST00000487137.2_Silent_p.S397S|CDH24_ENST00000397359.3_Silent_p.S397S|CDH24_ENST00000554034.1_Silent_p.S397S			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGTCAGCCGCGGAGATCTGGC	0.637																																						ENST00000397359.3											0			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1189-1191)tcC>tcT	cadherin 24, type 2						37	34	35					14																	23522740		2203	4300	6503	SO:0001819	synonymous_variant	64403			adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23522740G>A	AL137477	AL137477	CCDS9585.1, CCDS9586.1	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880	ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	"Cadherins / Major cadherins"	14265	14265	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"cadherin-like 24"		"cadherin-like 24"			12734196	12734196	Standard	Standard	NM_022478	NM_022478		Approved	CDH11L	uc001wil.3	uc001wil.3	Q86UP0	Q86UP0	OTTHUMG00000028715	OTTHUMG00000028715	ENST00000267383.5:c.1191C>T	14.37:g.23522740G>A			CDH24_ENST00000554034.1_Silent_p.S397S|CDH24_ENST00000487137.2_Silent_p.S397S|CDH24_ENST00000267383.5_Silent_p.S397S	p.S397S	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	7	1450	-	all_cancers(95;3.3e-05)		397	Cadherin 4.	D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	c.1191C>T	CCDS9585.1																																																																																									0.637	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2		43.953647	4	4	32	32	NM_022478		14	44.191605	44.191605	9	0.608696	0	0	0	1	0	14	9	0.608696	A	23522740	G	A	23522740	2	1	58	1	0	0	0	0	0	0	0	1	3109	1103	39	1		1	CDH24	14	23522740	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		23522740	83826800	15	1109											
TPSAB1	7177	broad.mit.edu	37	16	1291302	1291302	+	Silent	SNP	G	G	A	rs376353480		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr16:1291302G>A	ENST00000338844.3	+	3	243	c.210G>A	c.(208-210)ctG>ctA	p.L70L	TPSAB1_ENST00000461509.2_Silent_p.L77L	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	70	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L70L(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				AGTGGGTGCTGACCGCAGCGC	0.706																																						ENST00000461509.2											1	Substitution - coding silent(1)	central_nervous_system(1)	NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(229-231)ctG>ctA	tryptase alpha/beta 1	G		0,4396		0,0,2198	45	44	44		210	1.3	0.9	16		44	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	TPSAB1	NM_003294.3		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		70/276	1291302	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	7177			proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291302G>A	M33494	M33494	CCDS10431.1	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236	ENSG00000172236	ENSG00000172236				12019	12019	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	2203827, 9920877	Standard	Standard	NM_003294	NM_003294		Approved		uc002ckz.3	uc002ckz.3	Q15661	Q15661	OTTHUMG00000090467	OTTHUMG00000090467	ENST00000338844.3:c.210G>A	16.37:g.1291302G>A			TPSAB1_ENST00000338844.3_Silent_p.L70L	p.L77L			P20231	TRYB2_HUMAN			2	425	+		Hepatocellular(780;0.00369)	70	Peptidase S1.	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	c.231G>A	CCDS10431.1																																																																																									0.706	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1		3.837655	-15	-15	67	67	NM_003294		5	11.575831	11.575831	44	0.102041	0	0	0	1	0	5	44	0.102041	A	1291302	G	A	1291302	2	1	58	1	0	0	0	0	0	0	0	1	16420	1277	45	3		3	TPSAB1	16	1291302	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		1291302	89063451	16	1110											
SRRM2	23524	broad.mit.edu	37	16	2818118	2818118	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr16:2818118G>A	ENST00000301740.8	+	11	8138	c.7589G>A	c.(7588-7590)cGg>cAg	p.R2530Q	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2530	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R2530Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAAAGGAGCGGCGGAGTtcc	0.632																																						ENST00000301740.8											1	Substitution - Missense(1)	pancreas(1)	breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7588-7590)cGg>cAg	serine/arginine repetitive matrix 2						53	48	50					16																	2818118		2198	4300	6498	SO:0001583	missense	23524				Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2818118G>A	AF201422	AF201422	CCDS32373.1	CCDS32373.1	16p13.3	2012-07-02			2012-07-02			ENSG00000167978	ENSG00000167978	ENSG00000167978	ENSG00000167978				16639	16639	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606032	606032						10668804, 11004489	10668804, 11004489	Standard	Standard	NM_016333	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	uc002crk.3	Q9UQ35	Q9UQ35	OTTHUMG00000177358	OTTHUMG00000177358	ENST00000301740.8:c.7589G>A	16.37:g.2818118G>A	ENSP00000301740:p.Arg2530Gln		SRRM2_ENST00000574593.1_3'UTR	p.R2530Q	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	8138	+			2530	Ser-rich.	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7589G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767753	0.90020	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.77358	-1.09	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000029	T	0.80144	0.4569	N	0.19112	0.55	0.33018	D	0.528436	D	0.69078	0.997	D	0.70227	0.968	D	0.84048	0.0368	10	0.56958	D	0.05	-8.9045	15.8054	0.78501	0.0:0.0:1.0:0.0	.	2530	Q9UQ35	SRRM2_HUMAN	Q	2530;2112;1782	ENSP00000301740:R2530Q	ENSP00000301740:R2530Q	R	+	2	0	0	SRRM2	2758119	2758119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.739000	0.47409	2.808000	0.96608	0.655000	0.94253	CGG		0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		49.127402	7	7	43	43			15	49.158547	49.158547	13	0.535714	0	0	0	1	0	15	13	0.535714	A	2818118	G	A	2818118	3	1	58	1	0	0	0	0	1	0	0	0	15168	1116	39	1	7627	1	SRRM2	16	2818118	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	1526816	2818118	87536635	17	1111											
EFCAB5	374786	broad.mit.edu	37	17	28270612	28270612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:28270612delA	ENST00000394835.3	+	3	327	c.135delA	c.(133-135)gtafs	p.V45fs	EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000378738.3_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000536908.2_5'UTR|EFCAB5_ENST00000394832.2_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000534836.2_3'UTR|EFCAB5_ENST00000320856.5_Frame_Shift_Del_p.V45fs	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	45							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACGTTCCTGTAAAAGAGGACA	0.368																																						ENST00000394835.3											0			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(133-135)gtafs	EF-hand calcium binding domain 5						50	48	48					17																	28270612		1852	4095	5947	SO:0001589	frameshift_variant	374786					calcium ion binding	g.chr17:28270612delA	AL833911	AL833911	CCDS11254.2, CCDS54103.1	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			2013-01-10			ENSG00000176927	ENSG00000176927	ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	"EF-hand domain containing"	24801	24801	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_198529	NM_198529		Approved	FLJ46247	uc002het.3	uc002het.3	A4FU69	A4FU69	OTTHUMG00000132753	OTTHUMG00000132753	ENST00000394835.3:c.135delA	17.37:g.28270612delA	ENSP00000378312:p.Val45fs		EFCAB5_ENST00000536908.2_5'UTR|EFCAB5_ENST00000320856.5_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000394832.2_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000378738.3_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000534836.2_3'UTR	p.V45fs	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN			3	327	+			45		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Frame_Shift_Del	DEL	ENST00000394835.3	37	c.135delA	CCDS11254.2																																																																																									0.368	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	.	.	7	7	14	14	NM_198529		2			4	0.33						2	4	0.33	-	28270612	A	-	28270612	7	5	58	1	0	1	0	1	0	0	0	0	4938	349	13	0	145	0	EFCAB5	17	28270612	Frame_Shift_Del	DEL	A	TCGA-VD-AA8Q-01A-11D-A39W-08		28270612	52924598	18	1112											
KRTAP9-3	83900	broad.mit.edu	37	17	39389143	39389143	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:39389143C>G	ENST00000411528.2	+	1	429	c.390C>G	c.(388-390)tgC>tgG	p.C130W		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	130	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCCCTGCTGCCGCCCAGCCT	0.582																																						ENST00000411528.2											0			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(388-390)tgC>tgG	keratin associated protein 9-3						105	129	121					17																	39389143		2101	4297	6398	SO:0001583	missense	83900				keratin filament	protein binding	g.chr17:39389143C>G	AJ406947	AJ406947	CCDS11385.1	CCDS11385.1	17q21.2	2013-06-25			2013-06-25			ENSG00000204873	ENSG00000204873	ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	"Keratin associated proteins"	16927	16927	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11279113	11279113	Standard	Standard	NM_031962	NM_031962		Approved	KAP9.3	uc021txg.1	uc021txg.1	Q9BYQ3	Q9BYQ3	OTTHUMG00000133427	OTTHUMG00000133427	ENST00000411528.2:c.390C>G	17.37:g.39389143C>G	ENSP00000392189:p.Cys130Trp			p.C130W	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	429	+		Breast(137;0.000496)	130	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].		Missense_Mutation	SNP	ENST00000411528.2	37	c.390C>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	15.41	2.826248	0.50739	.	.	ENSG00000204873	ENST00000411528	T	0.02812	4.15	2.67	1.65	0.23941	2.67	1.65	0.23941	.	.	.	.	.	T	0.11793	0.0287	M	0.89353	3.025	0.49687	D	0.999811	.	.	.	.	.	.	T	0.00482	-1.1713	7	0.87932	D	0	.	7.0931	0.25295	0.0:0.8388:0.0:0.1612	.	.	.	.	W	130	ENSP00000392189:C130W	ENSP00000392189:C130W	C	+	3	2	2	KRTAP9-3	36642669	36642669	0.271000	0.24162	0.586000	0.28679	0.470000	0.32858	1.211000	0.32382	0.404000	0.25506	0.194000	0.17425	TGC		0.582	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1		93.983883	5	5	138	138			29	94.967162	94.967162	15	0.659091	0	0	0	1	0	29	15	0.659091	G	39389143	C	G	39389143	3	3	58	1	0	0	0	0	1	0	0	0	8574	747	26	5	392	5	KRTAP9-3	17	39389143	Missense_Mutation	SNP	C	TCGA-VD-AA8Q-01A-11D-A39W-08	11118531	39389143	41806067	19	1113											
HOXB5	3215	broad.mit.edu	37	17	46670514	46670514	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:46670514G>T	ENST00000239151.5	-	1	809	c.531C>A	c.(529-531)ttC>ttA	p.F177L	HOXB3_ENST00000460160.1_5'Flank|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000476342.1_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB3_ENST00000498678.1_5'Flank|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB3_ENST00000472863.1_5'Flank|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474324.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	177					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						TCATCCAGGGGAATATTTGCG	0.597																																						ENST00000239151.5											0			large_intestine(1)|lung(2)	3						c.(529-531)ttC>ttA	homeobox B5						42	46	45					17																	46670514		2202	4299	6501	SO:0001583	missense	3215				nucleus	sequence-specific DNA binding	g.chr17:46670514G>T			CCDS11530.1	CCDS11530.1	17q21.32	2011-06-20	2005-12-22		2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075	ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	"Homeoboxes / ANTP class : HOXL subclass"	5116	5116	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142960	142960	"homeo box B5"	HOX2, HOX2A	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	1973146, 1358459	Standard	Standard	NM_002147	NM_002147		Approved		uc002inr.3	uc002inr.3	P09067	P09067	OTTHUMG00000159913	OTTHUMG00000159913	ENST00000239151.5:c.531C>A	17.37:g.46670514G>T	ENSP00000239151:p.Phe177Leu		HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	p.F177L	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			1	809	-			177		B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.531C>A	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365987	0.61513	.	.	ENSG00000120075	ENST00000239151	D	0.92299	-3.01	5.31	2.24	0.28232	5.31	2.24	0.28232	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90779	0.7105	M	0.72118	2.19	0.80722	D	1	P	0.46220	0.874	P	0.45343	0.477	D	0.88839	0.3311	10	0.87932	D	0	.	8.0276	0.30446	0.3178:0.0:0.6822:0.0	.	177	P09067	HXB5_HUMAN	L	177	ENSP00000239151:F177L	ENSP00000239151:F177L	F	-	3	2	2	HOXB5	44025513	44025513	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.272000	0.43373	0.615000	0.30124	0.455000	0.32223	TTC		0.597	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2		13.722984	27	27	80	80			7	16.844763	16.844763	29	0.194444	1	0	0.000442599	1	0.000442599	7	29	0.194444	T	46670514	G	T	46670514	3	4	58	1	0	0	0	0	1	0	0	0	7304	1165	41	5	286	5	HOXB5	17	46670514	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	7281371	46670514	34524696	20	1114											
HOXB8	3218	broad.mit.edu	37	17	46691904	46691904	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:46691904G>C	ENST00000239144.4	-	1	397	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	HOXB8_ENST00000576562.1_Missense_Mutation_p.Q55E|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	55					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						TAGAACTCCTGGATTTGCGAC	0.662																																						ENST00000239144.4											0			large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(163-165)Cag>Gag	homeobox B8						21	23	22					17																	46691904		2200	4297	6497	SO:0001583	missense	3218				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691904G>C			CCDS11533.1	CCDS11533.1	17q21.32	2011-06-20	2005-12-22		2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068	ENSG00000120068	ENSG00000120068		"Homeoboxes / ANTP class : HOXL subclass"	"Homeoboxes / ANTP class : HOXL subclass"	5119	5119	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142963	142963	"homeo box B8"	HOX2, HOX2D	"homeo box B8"	HOX2, HOX2D		1973146, 1358459	1973146, 1358459	Standard	Standard	XM_005257286	XM_005257286		Approved		uc002inw.3	uc002inw.3	P17481	P17481	OTTHUMG00000159904	OTTHUMG00000159904	ENST00000239144.4:c.163C>G	17.37:g.46691904G>C	ENSP00000239144:p.Gln55Glu		HOXB8_ENST00000576562.1_Missense_Mutation_p.Q55E|HOXB7_ENST00000567101.2_Intron	p.Q55E	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	397	-			55		Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.163C>G	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	g	14.31	2.496902	0.44352	.	.	ENSG00000120068	ENST00000239144	T	0.39592	1.07	2.71	2.71	0.32032	2.71	2.71	0.32032	.	0.000000	0.56097	U	0.000030	T	0.52996	0.1769	M	0.81942	2.565	0.54753	D	0.999983	P	0.45715	0.865	P	0.54706	0.759	T	0.60209	-0.7308	10	0.02654	T	1	.	13.8138	0.63278	0.0:0.0:1.0:0.0	.	55	P17481	HXB8_HUMAN	E	55	ENSP00000239144:Q55E	ENSP00000239144:Q55E	Q	-	1	0	0	HOXB8	44046903	44046903	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.971000	0.93419	1.543000	0.49345	0.290000	0.19541	CAG		0.662	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3		16.845442	-1	-1	24	24			6	17.065144	17.065144	10	0.375	0	0	0	1	0	6	10	0.375	C	46691904	G	C	46691904	3	2	58	1	0	0	0	0	1	0	0	0	7307	1357	47	5	576	5	HOXB8	17	46691904	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	21390	46691904	34503306	21	1115											
IGF2BP1	10642	broad.mit.edu	37	17	47119660	47119660	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:47119660T>C	ENST00000290341.3	+	9	1332	c.998T>C	c.(997-999)aTc>aCc	p.I333T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.I194T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	333	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGGGGGCCATCGAGAATTGT	0.532																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(997-999)aTc>aCc	insulin-like growth factor 2 mRNA binding protein 1						118	116	117					17																	47119660		2203	4300	6503	SO:0001583	missense	10642			CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47119660T>C	AF198254	AF198254	CCDS11543.1, CCDS54138.1	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			2013-02-12			ENSG00000159217	ENSG00000159217	ENSG00000159217	ENSG00000159217		"RNA binding motif (RRM) containing"	"RNA binding motif (RRM) containing"	28866	28866	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 1"	"IGF II mRNA binding protein 1"	608288	608288						9891060, 11992722	9891060, 11992722	Standard	Standard	NM_001160423	NM_001160423		Approved	IMP-1	uc002iom.3	uc002iom.3	Q9NZI8	Q9NZI8	OTTHUMG00000161173	OTTHUMG00000161173	ENST00000290341.3:c.998T>C	17.37:g.47119660T>C	ENSP00000290341:p.Ile333Thr		IGF2BP1_ENST00000431824.2_Missense_Mutation_p.I194T	p.I333T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			9	1332	+			333	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.998T>C	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597867	0.66332	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.28454	1.61;1.61	5.59	5.59	0.84812	5.59	5.59	0.84812	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.136010	0.56097	D	0.000040	T	0.42223	0.1193	L	0.31157	0.91	0.80722	D	1	P;B	0.40180	0.705;0.18	P;B	0.58780	0.845;0.178	T	0.16394	-1.0404	10	0.33141	T	0.24	-16.2489	15.7197	0.77697	0.0:0.0:0.0:1.0	.	194;333	C9JT33;Q9NZI8	.;IF2B1_HUMAN	T	333;194	ENSP00000290341:I333T;ENSP00000389135:I194T	ENSP00000290341:I333T	I	+	2	0	0	IGF2BP1	44474659	44474659	0.999000	0.42202	0.988000	0.46212	0.972000	0.66771	5.056000	0.64287	2.231000	0.72958	0.533000	0.62120	ATC		0.532	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1		-14.623388	-28	-28	118	118	NM_006546		6	6.617203	6.617203	97	0.058252	0	0	0	1	0	6	97	0.058252	C	47119660	T	C	47119660	3	2	58	1	0	0	0	0	1	0	0	0	7573	1435	50	4	1032	4	IGF2BP1	17	47119660	Missense_Mutation	SNP	T	TCGA-VD-AA8Q-01A-11D-A39W-08	427756	47119660	34075550	22	1116											
DNAH17	9489	broad.mit.edu	37	17	76421433	76421433	+	IGR	SNP	T	T	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:76421433T>G	ENST00000262764.6	+	0	2201				DNAH17_ENST00000585328.1_Missense_Mutation_p.M4374L|DNAH17_ENST00000586052.1_5'UTR|AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000389840.5_Missense_Mutation_p.M4402L	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TTACCTTCCATGAAGAGTCCG	0.532																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000389840.5											0			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13204-13206)Atg>Ctg	dynein, axonemal, heavy chain 17						92	91	91					17																	76421433		2203	4300	6503	SO:0001628	intergenic_variant	8632						g.chr17:76421433T>G		AJ000522	CCDS42391.1		17q25.3	2006-02-09			2012-04-19	2006-09-04				ENSG00000187775	ENSG00000187775			"Axonemal dyneins"	30029	2946	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614942	610063			"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9880566	9545504	Standard	Standard	XR_243691	NM_173628		Approved	DKFZP762M186	uc002jvm.3	uc010dhp.2	Q32NB8	Q9UFH2				17.37:g.76421433T>G			DNAH17_ENST00000585328.1_Missense_Mutation_p.M4374L|DNAH17_ENST00000586052.1_5'UTR	p.M4402L					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		80	13328	-					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.13204A>C	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683326	0.47991	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.04083	3.71	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	T	0.03305	0.0096	N	0.05487	-0.04	0.50467	D	0.999872	B	0.16396	0.017	B	0.25291	0.059	T	0.52533	-0.8563	10	0.15952	T	0.53	.	14.6095	0.68507	0.0:0.0:0.0:1.0	.	4374	E7EUM8	.	L	4374;4402	ENSP00000374490:M4402L	ENSP00000300671:M4374L	M	-	1	0	0	DNAH17	73933028	73933028	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.700000	0.84556	2.027000	0.59764	0.482000	0.46254	ATG		0.532	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1		97.838415	17	17	110	110	NM_024419		30	98.416489	98.416489	44	0.405405	0	0	0	1	0	30	44	0.405405	G	76421433	T	G	76421433	1	3	58	0	1	0	0	0	0	0	0	0	4601	1464	51	5		5	DNAH17	17	76421433	IGR	SNP	T	TCGA-VD-AA8Q-01A-11D-A39W-08	29301773	76421433	4773777	23	1117											
SLC16A3	9123	broad.mit.edu	37	17	80195168	80195168	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:80195168delC	ENST00000581287.1	+	3	2844	c.522delC	c.(520-522)tacfs	p.Y174fs	SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.Y174fs	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	174					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	AGGACCGCTACGGCTGGCGGG	0.711																																					Pancreas(52;652 1135 19190 37282 52456)	ENST00000581287.1											0			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(520-522)tacfs	solute carrier family 16 (monocarboxylate transporter), member 3						6	6	6					17																	80195168		2121	4174	6295	SO:0001589	frameshift_variant	9123			blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80195168delC	U81800	U81800	CCDS11804.1	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526	ENSG00000141526	ENSG00000141526		"Solute carriers"	"Solute carriers"	10924	10924	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603877	603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"		"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	9425115	Standard	Standard	NM_004207	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	uc021ufm.1	O15427	O15427	OTTHUMG00000178832	OTTHUMG00000178832	ENST00000581287.1:c.522delC	17.37:g.80195168delC	ENSP00000463978:p.Tyr174fs		SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.Y174fs	p.Y174fs	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		3	2844	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		174		B3KXG8|Q2M1P8	Frame_Shift_Del	DEL	ENST00000581287.1	37	c.522delC	CCDS11804.1																																																																																									0.711	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	.	.	0	0	8	8	NM_004207		2			4	0.33						2	4	0.33	-	80195168	C	-	80195168	7	5	58	1	0	1	0	1	0	0	0	0	14409	547	19	0	532	0	SLC16A3	17	80195168	Frame_Shift_Del	DEL	C	TCGA-VD-AA8Q-01A-11D-A39W-08	3773735	80195168	1000042	24	1118											
ZNF180	7733	broad.mit.edu	37	19	44981067	44981067	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr19:44981067G>C	ENST00000221327.4	-	5	1912	c.1631C>G	c.(1630-1632)aCt>aGt	p.T544S	ZNF180_ENST00000592529.1_Missense_Mutation_p.T517S|ZNF180_ENST00000391956.4_Missense_Mutation_p.T519S|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	544					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(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTCTCTCCAGTGTGAGTTCT	0.423																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4											0			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1630-1632)aCt>aGt	zinc finger protein 180						78	78	78					19																	44981067		2203	4300	6503	SO:0001583	missense	7733			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981067G>C	AF192913	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22		2013-01-08	2006-08-22			ENSG00000167384		ENSG00000167384		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	12970	12970	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606740	606740	"zinc finger protein 180 (HHZ168)"		"zinc finger protein 180 (HHZ168)"					Standard	Standard	NM_001288762	NM_001288762		Approved	HHZ168	uc002ozf.4	uc002ozf.4	Q9UJW8	Q9UJW8			ENST00000221327.4:c.1631C>G	19.37:g.44981067G>C	ENSP00000221327:p.Thr544Ser		ZNF180_ENST00000391956.4_Missense_Mutation_p.T519S|ZNF180_ENST00000592529.1_Missense_Mutation_p.T517S	p.T544S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1912	-		Prostate(69;0.0435)	544		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1631C>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148613	0.57151	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24151	1.87;1.87	5.23	4.15	0.48705	5.23	4.15	0.48705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000561	T	0.21267	0.0512	N	0.26130	0.795	0.80722	D	1	P;P;P	0.36768	0.513;0.569;0.569	B;B;B	0.38683	0.183;0.279;0.279	T	0.06232	-1.0838	10	0.49607	T	0.09	-11.686	14.7864	0.69806	0.0:0.1447:0.8553:0.0	.	519;543;544	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	S	544;519	ENSP00000221327:T544S;ENSP00000375818:T519S	ENSP00000221327:T544S	T	-	2	0	0	ZNF180	49672907	49672907	1.000000	0.71417	0.970000	0.41538	0.976000	0.68499	3.444000	0.52914	2.437000	0.82529	0.467000	0.42956	ACT		0.423	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1		102.015711	-10	-10	117	117	NM_013256		31	102.318234	102.318234	41	0.430556	0	0	0	1	0	31	41	0.430556	C	44981067	G	C	44981067	3	2	58	1	0	0	0	0	1	0	0	0	17745	1029	36	5	451	5	ZNF180	19	44981067	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		44981067	14147916	25	1119											
UMODL1	89766	broad.mit.edu	37	21	43543127	43543127	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr21:43543127G>A	ENST00000408910.2	+	17	3014	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.R1061H|UMODL1_ENST00000400424.2_Missense_Mutation_p.R933H|UMODL1_ENST00000408989.2_Missense_Mutation_p.R1133H	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1005	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ATCCAGAAGCGCTTCCTGCAG	0.637																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400424.2											0			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2797-2799)cGc>cAc	uromodulin-like 1						86	93	90					21																	43543127		2175	4271	6446	SO:0001583	missense	89766				cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43543127G>A			CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			2008-07-04			ENSG00000177398	ENSG00000177398	ENSG00000177398	ENSG00000177398				12560	12560	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"olfactorin"	"olfactorin"	613859	613859						16026467	16026467	Standard	Standard	NM_173568	NM_173568		Approved		uc002zag.1	uc002zag.1	Q5DID0	Q5DID0	OTTHUMG00000086788	OTTHUMG00000086788	ENST00000408910.2:c.3014G>A	21.37:g.43543127G>A	ENSP00000386147:p.Arg1005His		UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.R1061H|UMODL1_ENST00000408989.2_Missense_Mutation_p.R1133H|UMODL1_ENST00000408910.2_Missense_Mutation_p.R1005H	p.R933H	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN			17	3194	+				EGF-like 3; calcium-binding (Potential).	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2798G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618443	0.28801	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	3.13	-0.879	0.10613	3.13	-0.879	0.10613	Zona pellucida sperm-binding protein (3);	0.802743	0.10438	N	0.674606	T	0.69486	0.3116	L	0.31294	0.92	0.26420	N	0.976111	B;B	0.21688	0.059;0.039	B;B	0.12156	0.005;0.007	T	0.52071	-0.8624	9	.	.	.	-9.003	7.916	0.29818	0.4938:0.0:0.5062:0.0	.	1133;1005	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	H	1061;933;1133;1005	ENSP00000383279:R1061H;ENSP00000383276:R933H;ENSP00000386126:R1133H;ENSP00000386147:R1005H	.	R	+	2	0	0	UMODL1	42416196	42416196	0.013000	0.17824	0.995000	0.50966	0.959000	0.62525	-0.472000	0.06623	-0.199000	0.10317	0.313000	0.20887	CGC		0.637	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		32.315988	12	12	64	64			11	33.005746	33.005746	21	0.34375	0	0	0	1	0	11	21	0.34375	A	43543127	G	A	43543127	3	1	58	1	0	0	0	0	1	0	0	0	16977	1087	38	1	3460	1	UMODL1	21	43543127	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		43543127	4586768	26	1120											
ZNF182	7569	broad.mit.edu	37	X	47836907	47836907	+	Silent	SNP	A	A	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chrX:47836907A>G	ENST00000396965.1	-	7	929	c.579T>C	c.(577-579)caT>caC	p.H193H	ZNF182_ENST00000305127.6_Silent_p.H193H|ZNF182_ENST00000376943.3_Silent_p.H174H	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	193					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(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CATACTCAGTATGGAAGAACA	0.343																																						ENST00000396965.1											0			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(577-579)caT>caC	zinc finger protein 182						64	57	59					X																	47836907		2203	4299	6502	SO:0001819	synonymous_variant	7569			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836907A>G	AK122874, R98366	AK122874, R98366	CCDS35235.1, CCDS35236.1	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118	ENSG00000147118	ENSG00000147118		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	13001	13001	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			314993	314993	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21	"zinc finger protein 182 (HHZ150)", "zinc finger protein 21 (KOX 14)"	ZNF21		8088786, 2014798, 8914609	8088786, 2014798, 8914609	Standard	Standard	NM_001178099	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	uc004dit.3	P17025	P17025	OTTHUMG00000021460	OTTHUMG00000021460	ENST00000396965.1:c.579T>C	X.37:g.47836907A>G			ZNF182_ENST00000305127.6_Silent_p.H193H|ZNF182_ENST00000376943.3_Silent_p.H174H	p.H193H	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	929	-			193		A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.579T>C	CCDS35236.1																																																																																									0.343	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1		32.750269	-50	-50	26	26	NM_006962		10	32.761678	32.761678	9	0.526316	0	0	0	1	0	10	9	0.526316	G	47836907	A	G	47836907	2	3	58	1	0	0	0	0	0	0	0	1	17747	446	16	4		4	ZNF182	23	47836907	Silent	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08		47836907	107433653	27	1121											
KIAA0467	23334	broad.mit.edu	37	1	43912793	43912793	+	Silent	SNP	C	C	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr1:43912793C>T	ENST00000562955.1	+	65	9069	c.9069C>T	c.(9067-9069)gcC>gcT	p.A3023A	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Silent_p.A2181A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3080					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCCTGGCCCACCACCCTG	0.592																																						ENST00000562955.1											0			NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(9067-9069)gcC>gcT	seizure threshold 2 homolog (mouse)						127	89	102					1																	43912793		2203	4300	6503	SO:0001819	synonymous_variant	23334				peroxisome		g.chr1:43912793C>T	AB007936	AB007936	CCDS30694.1, CCDS30694.2	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198	ENSG00000198198	ENSG00000198198				29040	29040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	9455484	Standard	Standard	NM_015284	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	uc001cjk.3	Q5T011	Q5T011	OTTHUMG00000007423	OTTHUMG00000007423	ENST00000562955.1:c.9069C>T	1.37:g.43912793C>T			SZT2_ENST00000372442.1_Silent_p.A2181A	p.A3023A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			65	9069	+			3080		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.9069C>T	CCDS30694.2																																																																																									0.592	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		41.975046	-20	-20	15	15	NM_015284		13	41.975046	41.975046	13	0.5	0	0	0	1	0	13	13	0.5	T	43912793	C	T	43912793	2	4	59	1	0	0	0	0	0	0	0	1	8178	610	22	3		3	KIAA0467	1	43912793	Silent	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08		43912793	205337828	1	1122											
C1orf66	51093	broad.mit.edu	37	1	156704256	156704257	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr1:156704256_156704257delCC	ENST00000368216.4	+	6	1722_1723	c.1092_1093delCC	c.(1090-1095)atccccfs	p.P365fs	MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	365						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TGCAGGGTATCCCCAGGGTCCA	0.599																																						ENST00000368216.4											0			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1090-1095)atccccfs	ribosomal RNA adenine dimethylase domain containing 1																																			SO:0001589	frameshift_variant	51093				integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156704256_156704257delCC	BC011382	BC011382	CCDS1154.1, CCDS44246.1	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303	ENSG00000143303	ENSG00000143303				24273	24273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 1 open reading frame 66"	C1orf66	"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	10810093, 310876	Standard	Standard	NM_015997	NM_015997		Approved	CGI-41	uc001fpu.3	uc001fpu.3	Q96FB5	Q96FB5	OTTHUMG00000041302	OTTHUMG00000041302	ENST00000368216.4:c.1092_1093delCC	1.37:g.156704258_156704259delCC	ENSP00000357199:p.Pro365fs		RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	p.P365fs	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			6	1722_1723	+			365		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Frame_Shift_Del	DEL	ENST00000368216.4	37	c.1092_1093delCC	CCDS1154.1																																																																																									0.599	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	.	.	4	4	7	7	NM_015997		2			4	0.33						2	4	0.33	-	156704257	CC	-	156704256	7	5	59	1	0	1	0	1	0	0	0	0	2056	845	30	0	1114	0	C1orf66	1	156704256	Frame_Shift_Del	DEL	CC	TCGA-VD-AA8R-01A-11D-A39W-08	112791463	156704256	92546365	2	1123											
GLI2	2736	broad.mit.edu	37	2	121748132	121748132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr2:121748132C>T	ENST00000452319.1	+	14	4702	c.4642C>T	c.(4642-4644)Cga>Tga	p.R1548*	GLI2_ENST00000361492.4_Nonsense_Mutation_p.R1548*|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CACCACCCCCCGAAACTCCTT	0.617																																						ENST00000452319.1											0			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4642-4644)Cga>Tga	GLI family zinc finger 2						111	128	122					2																	121748132		2203	4300	6503	SO:0001587	stop_gained	2736			axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121748132C>T			CCDS33283.1	CCDS33283.1	2q14	2013-01-25	2009-03-05		2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047	ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	4318	4318	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"		"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	2850480, 9557682	Standard	Standard	NM_005270	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	uc010flp.3	P10070	P10070	OTTHUMG00000153741	OTTHUMG00000153741	ENST00000452319.1:c.4642C>T	2.37:g.121748132C>T	ENSP00000390436:p.Arg1548*		GLI2_ENST00000361492.4_Nonsense_Mutation_p.R1548*|GLI2_ENST00000314490.11_Intron	p.R1548*			P10070	GLI2_HUMAN			14	4702	+	Renal(3;0.0496)	Prostate(154;0.0623)	1548			Nonsense_Mutation	SNP	ENST00000452319.1	37	c.4642C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	40	8.520170	0.98848	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	.	.	.	4.98	2.01	0.26516	4.98	2.01	0.26516	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6438	0.62267	0.5689:0.4311:0.0:0.0	.	.	.	.	X	1548	.	ENSP00000354586:R1548X	R	+	1	2	2	GLI2	121464602	121464602	0.914000	0.31030	0.899000	0.35326	0.844000	0.47949	1.864000	0.39469	0.207000	0.20607	-0.410000	0.06199	CGA		0.617	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		172.550726	-76	-76	183	183	NM_005270		57	173.679376	173.679376	84	0.404255	0	0	0	1	0	57	84	0.404255	T	121748132	C	T	121748132	4	4	59	1	0	0	0	0	0	1	0	0	6438	644	23	1	4692	1	GLI2	2	121748132	Nonsense_Mutation	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08		121748132	121451241	3	1124											
ATF2	1386	broad.mit.edu	37	2	175945425	175945425	+	Silent	SNP	G	G	A			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr2:175945425G>A	ENST00000264110.2	-	13	1552	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	ATF2_ENST00000409635.1_Silent_p.C360C|ATF2_ENST00000409499.1_Silent_p.C57C|ATF2_ENST00000392543.2_Silent_p.C39C|ATF2_ENST00000409437.1_Silent_p.C302C|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000426833.3_Silent_p.C400C|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Silent_p.C360C|ATF2_ENST00000392544.1_Silent_p.C418C	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	418					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|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 coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CGGTTACAGGGCAATCTTTAT	0.443																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2											0			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(1252-1254)tgC>tgT	activating transcription factor 2						177	173	174					2																	175945425		2203	4300	6503	SO:0001819	synonymous_variant	1386			innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175945425G>A	X15875	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			2013-01-10			ENSG00000115966	ENSG00000115966	ENSG00000115966	ENSG00000115966		"basic leucine zipper proteins"	"basic leucine zipper proteins"	784	784	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			123811	123811	"cAMP responsive element binding protein 2"	CREB2	"cAMP responsive element binding protein 2"	CREB2		1833307, 1838349	1833307, 1838349	Standard	Standard	NM_001880	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	uc002ujl.4	P15336	P15336	OTTHUMG00000132424	OTTHUMG00000132424	ENST00000264110.2:c.1254C>T	2.37:g.175945425G>A			ATF2_ENST00000409437.1_Silent_p.C302C|ATF2_ENST00000392543.2_Silent_p.C39C|ATF2_ENST00000426833.3_Silent_p.C400C|ATF2_ENST00000409499.1_Silent_p.C57C|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Silent_p.C360C|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000392544.1_Silent_p.C418C|ATF2_ENST00000409635.1_Silent_p.C360C	p.C418C	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		13	1552	-			418		A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Silent	SNP	ENST00000264110.2	37	c.1254C>T	CCDS2262.1																																																																																									0.443	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1		-25.623589	-47	-47	143	143	NM_001880		4	7.19372	7.19372	131	0.02963	0	0	0	1	0	4	131	0.02963	A	175945425	G	A	175945425	2	1	59	1	0	0	0	0	0	0	0	1	1080	1195	42	2		2	ATF2	2	175945425	Silent	SNP	G	TCGA-VD-AA8R-01A-11D-A39W-08	54197293	175945425	67253948	4	1125											
RAI14	26064	broad.mit.edu	37	5	34823886	34823886	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr5:34823886G>A	ENST00000265109.3	+	15	2226	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K	RAI14_ENST00000506376.1_Missense_Mutation_p.E639K|RAI14_ENST00000397449.1_Missense_Mutation_p.E640K|RAI14_ENST00000515799.1_Missense_Mutation_p.E650K|RAI14_ENST00000428746.2_Missense_Mutation_p.E647K|RAI14_ENST00000503673.1_Missense_Mutation_p.E647K|RAI14_ENST00000512629.1_Missense_Mutation_p.E618K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	647						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACAGGTGAGCGAGCTGTCACA	0.443																																						ENST00000265109.3											0			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1939-1941)Gag>Aag	retinoic acid induced 14						77	81	80					5																	34823886		2203	4300	6503	SO:0001583	missense	26064				cell cortex|cytoskeleton	protein binding	g.chr5:34823886G>A	AB037755	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			2013-01-10			ENSG00000039560	ENSG00000039560	ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	14873	14873	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	"novel retinal pigment epithelial"	606586	606586						11042181	11042181	Standard	Standard	NM_015577	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	uc011coj.2	Q9P0K7	Q9P0K7	OTTHUMG00000162019	OTTHUMG00000162019	ENST00000265109.3:c.1939G>A	5.37:g.34823886G>A	ENSP00000265109:p.Glu647Lys		RAI14_ENST00000506376.1_Missense_Mutation_p.E639K|RAI14_ENST00000512629.1_Missense_Mutation_p.E618K|RAI14_ENST00000503673.1_Missense_Mutation_p.E647K|RAI14_ENST00000397449.1_Missense_Mutation_p.E640K|RAI14_ENST00000428746.2_Missense_Mutation_p.E647K|RAI14_ENST00000515799.1_Missense_Mutation_p.E650K	p.E647K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	2226	+	all_lung(31;0.000191)		647		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1939G>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989851	0.93106	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.54279	0.75;0.6;0.75;0.75;0.58;0.63;0.62	5.68	5.68	0.88126	5.68	5.68	0.88126	.	.	.	.	.	T	0.61874	0.2382	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.995;0.997;0.999;0.997	P;P;P;P	0.60173	0.749;0.678;0.87;0.546	T	0.62158	-0.6913	9	0.54805	T	0.06	-26.0717	19.7964	0.96487	0.0:0.0:1.0:0.0	.	639;618;650;647	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	K	647;618;647;647;650;639;640	ENSP00000265109:E647K;ENSP00000422377:E618K;ENSP00000388725:E647K;ENSP00000422942:E647K;ENSP00000427123:E650K;ENSP00000423854:E639K;ENSP00000380591:E640K	ENSP00000265109:E647K	E	+	1	0	0	RAI14	34859643	34859643	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	5.748000	0.68697	2.683000	0.91414	0.555000	0.69702	GAG		0.443	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1		57.922589	-9	-9	42	42	NM_015577		19	58.00506	58.00506	23	0.452381	0	0	0	1	0	19	23	0.452381	A	34823886	G	A	34823886	3	1	59	1	0	0	0	0	1	0	0	0	13008	1059	37	1	2058	1	RAI14	5	34823886	Missense_Mutation	SNP	G	TCGA-VD-AA8R-01A-11D-A39W-08		34823886	146091374	5	1126											
BICC1	80114	broad.mit.edu	37	10	60549448	60549448	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr10:60549448A>G	ENST00000373886.3	+	8	806	c.802A>G	c.(802-804)Act>Gct	p.T268A		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	268					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTAGGAAGGAACTGCCATGCT	0.393																																						ENST00000373886.3											0			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(802-804)Act>Gct	bicaudal C homolog 1 (Drosophila)						183	175	178					10																	60549448		2203	4300	6503	SO:0001583	missense	80114			multicellular organismal development		RNA binding	g.chr10:60549448A>G	AK026129	AK026129	CCDS31206.1	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870	ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	"Sterile alpha motif (SAM) domain containing"	19351	19351	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614295	614295	"bicaudal C homolog 1 (Drosophila)"		"bicaudal C homolog 1 (Drosophila)"					Standard	Standard	XM_005270166	XM_005270166		Approved		uc001jki.1	uc001jki.1	Q9H694	Q9H694	OTTHUMG00000018271	OTTHUMG00000018271	ENST00000373886.3:c.802A>G	10.37:g.60549448A>G	ENSP00000362993:p.Thr268Ala			p.T268A	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			8	806	+			268			Missense_Mutation	SNP	ENST00000373886.3	37	c.802A>G	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.594980	0.66219	.	.	ENSG00000122870	ENST00000373886	T	0.40756	1.02	5.88	4.76	0.60689	5.88	4.76	0.60689	.	0.042911	0.85682	N	0.000000	T	0.37999	0.1024	L	0.54323	1.7	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.13255	-1.0516	10	0.34782	T	0.22	-12.1964	11.657	0.51324	0.9313:0.0:0.0687:0.0	.	268	Q9H694	BICC1_HUMAN	A	268	ENSP00000362993:T268A	ENSP00000362993:T268A	T	+	1	0	0	BICC1	60219454	60219454	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	5.306000	0.65756	1.062000	0.40625	0.533000	0.62120	ACT		0.393	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2		224.216939	-66	-66	145	145	NM_025044		67	224.398032	224.398032	78	0.462069	0	0	0	1	0	67	78	0.462069	G	60549448	A	G	60549448	3	3	59	1	0	0	0	0	1	0	0	0	1427	43	2	4	832	4	BICC1	10	60549448	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08		60549448	74985299	6	1127											
KNDC1	85442	broad.mit.edu	37	10	135020364	135020364	+	Silent	SNP	C	C	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr10:135020364C>T	ENST00000304613.3	+	19	3507	c.3486C>T	c.(3484-3486)tcC>tcT	p.S1162S	KNDC1_ENST00000368572.2_Silent_p.S1164S|KNDC1_ENST00000368571.2_Silent_p.S1097S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1162					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACAGGTTCCGACGTCAAGA	0.567																																						ENST00000304613.3											0			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3484-3486)tcC>tcT	kinase non-catalytic C-lobe domain (KIND) containing 1						101	109	106					10																	135020364		2203	4300	6503	SO:0001819	synonymous_variant	85442			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135020364C>T	AK074179	AK074179	CCDS7674.1	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798	ENSG00000171798	ENSG00000171798				29374	29374	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"RasGEF domain family, member 2"	RASGEF2, C10orf23	"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	11214970	Standard	Standard	NM_152643	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	uc001llz.1	Q76NI1	Q76NI1	OTTHUMG00000019303	OTTHUMG00000019303	ENST00000304613.3:c.3486C>T	10.37:g.135020364C>T			KNDC1_ENST00000368572.2_Silent_p.S1164S|KNDC1_ENST00000368571.2_Silent_p.S1097S	p.S1162S			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	19	3507	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1162		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.3486C>T	CCDS7674.1																																																																																									0.567	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3		-1.729267	-43	-43	87	87	NM_152643		7	16.259641	16.259641	89	0.072917	0	0	0	1	0	7	89	0.072917	T	135020364	C	T	135020364	2	4	59	1	0	0	0	0	0	0	0	1	8426	639	23	1		1	KNDC1	10	135020364	Silent	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08	74470916	135020364	514383	7	1128											
GNB3	2784	broad.mit.edu	37	12	6953033	6953033	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr12:6953033A>G	ENST00000229264.3	+	9	995	c.590A>G	c.(589-591)aAt>aGt	p.N197S	GNB3_ENST00000435982.2_Missense_Mutation_p.N196S|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	197					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CCTGACTTCAATCTCTTCATT	0.562																																						ENST00000229264.3											0			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(589-591)aAt>aGt	guanine nucleotide binding protein (G protein), beta polypeptide 3						134	116	122					12																	6953033		2203	4300	6503	SO:0001583	missense	2784			cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6953033A>G			CCDS8564.1, CCDS73427.1	CCDS8564.1, CCDS73427.1	12p13	2013-01-10			2013-01-10			ENSG00000111664	ENSG00000111664	ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	"WD repeat domain containing"	4400	4400	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139130	139130						11770079, 16600389	11770079, 16600389	Standard	Standard	XM_005253680	XM_005253680		Approved		uc001qrd.3	uc001qrd.3	P16520	P16520	OTTHUMG00000168517	OTTHUMG00000168517	ENST00000229264.3:c.590A>G	12.37:g.6953033A>G	ENSP00000229264:p.Asn197Ser		GNB3_ENST00000435982.2_Missense_Mutation_p.N196S	p.N197S	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			9	995	+			197		Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.590A>G	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	A	8.347	0.830069	0.16749	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000435982	T;T;T	0.60171	0.21;0.21;0.21	5.46	1.79	0.24919	5.46	1.79	0.24919	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.273432	0.46758	D	0.000278	T	0.34513	0.0900	N	0.11560	0.145	0.30405	N	0.779626	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.008	T	0.20306	-1.0279	10	0.39692	T	0.17	-11.6507	9.4239	0.38567	0.7957:0.0:0.2043:0.0	.	196;197	E9PCP0;P16520	.;GBB3_HUMAN	S	197;196;196	ENSP00000229264:N197S;ENSP00000442002:N196S;ENSP00000414734:N196S	ENSP00000229264:N197S	N	+	2	0	0	GNB3	6823294	6823294	1.000000	0.71417	0.993000	0.49108	0.002000	0.02628	3.897000	0.56273	0.062000	0.16340	-0.379000	0.06801	AAT		0.562	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1		75.056169	-12	-12	58	58	NM_002075		25	75.357224	75.357224	34	0.423729	0	0	0	1	0	25	34	0.423729	G	6953033	A	G	6953033	3	3	59	1	0	0	0	0	1	0	0	0	6519	101	4	4	616	4	GNB3	12	6953033	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08		6953033	126898862	8	1129											
MYH2	4620	broad.mit.edu	37	17	10426880	10426880	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr17:10426880C>T	ENST00000245503.5	-	37	5789	c.5405G>A	c.(5404-5406)cGt>cAt	p.R1802H	MYH2_ENST00000397183.2_Missense_Mutation_p.R1802H|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1802					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCATCCAGACGGAGCTGCAG	0.572																																						ENST00000245503.5											0			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5404-5406)cGt>cAt	myosin, heavy chain 2, skeletal muscle, adult						105	106	105					17																	10426880		2203	4300	6503	SO:0001583	missense	4620			muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426880C>T			CCDS11156.1	CCDS11156.1	17p13.1	2014-02-04	2006-09-29		2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414	ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	"Myosins / Myosin superfamily : Class II"	7572	7572	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			160740	160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	7545970, 11889243	Standard	Standard	NM_001100112	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	uc010coi.3	Q9UKX2	Q9UKX2	OTTHUMG00000130363	OTTHUMG00000130363	ENST00000245503.5:c.5405G>A	17.37:g.10426880C>T	ENSP00000245503:p.Arg1802His		MYH2_ENST00000397183.2_Missense_Mutation_p.R1802H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.R1802H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			37	5789	-			1802		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5405G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717717	0.89205	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82526	-1.62;-1.62	5.5	5.5	0.81552	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.40144	U	0.001168	D	0.91576	0.7339	H	0.97940	4.11	0.58432	D	0.999999	P	0.38148	0.62	B	0.41723	0.365	D	0.93510	0.6852	10	0.87932	D	0	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	1802	Q9UKX2	MYH2_HUMAN	H	1802	ENSP00000245503:R1802H;ENSP00000380367:R1802H	ENSP00000245503:R1802H	R	-	2	0	0	MYH2	10367605	10367605	1.000000	0.71417	0.828000	0.32881	0.757000	0.42996	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	CGT		0.572	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		143.841722	-15	-15	90	90	NM_017534		46	144.015953	144.015953	55	0.455446	0	0	0	1	0	46	55	0.455446	T	10426880	C	T	10426880	3	4	59	1	0	0	0	0	1	0	0	0	10035	536	19	1	436	1	MYH2	17	10426880	Missense_Mutation	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08		10426880	70768330	9	1130											
SGTA	6449	broad.mit.edu	37	19	2759273	2759273	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:2759273T>C	ENST00000221566.2	-	9	880	c.719A>G	c.(718-720)aAt>aGt	p.N240S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	240					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATCTGGGGATTGTTCATTAG	0.403																																						ENST00000221566.2											0			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(718-720)aAt>aGt	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha						129	137	134					19																	2759273		2203	4300	6503	SO:0001583	missense	6449			interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2759273T>C	AJ223828	AJ223828	CCDS12094.1	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	10819	10819	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603419	603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	9740675, 12735788	Standard	Standard	NM_003021	NM_003021		Approved		uc002lwi.1	uc002lwi.1	O43765	O43765			ENST00000221566.2:c.719A>G	19.37:g.2759273T>C	ENSP00000221566:p.Asn240Ser			p.N240S	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	880	-		Hepatocellular(1079;0.137)	240		D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.719A>G	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	T	7.807	0.714844	0.15306	.	.	ENSG00000104969	ENST00000221566	T	0.39406	1.08	4.05	2.99	0.34606	4.05	2.99	0.34606	.	0.097264	0.64402	N	0.000002	T	0.42154	0.1190	M	0.73962	2.25	0.34545	D	0.710736	B	0.10296	0.003	B	0.17979	0.02	T	0.49698	-0.8912	10	0.56958	D	0.05	-23.5309	9.2874	0.37766	0.0:0.0:0.1823:0.8177	.	240	O43765	SGTA_HUMAN	S	240	ENSP00000221566:N240S	ENSP00000221566:N240S	N	-	2	0	0	SGTA	2710273	2710273	0.962000	0.33011	0.247000	0.24249	0.176000	0.22953	1.514000	0.35834	0.406000	0.25560	0.459000	0.35465	AAT		0.403	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2		-38.798252	-34	-34	193	193	NM_003021		5	9.796509	9.796509	190	0.025641	0	0	0	1	0	5	190	0.025641	C	2759273	T	C	2759273	3	2	59	1	0	0	0	0	1	0	0	0	14225	1493	52	4	234	4	SGTA	19	2759273	Missense_Mutation	SNP	T	TCGA-VD-AA8R-01A-11D-A39W-08		2759273	56369710	10	1131											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		76.997732	-4	-4	77	77	NM_002067		25	77.031867	77.031867	28	0.471698	0	0	0	1	0	25	28	0.471698	T	3118942	A	T	3118942	3	4	59	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08	359669	3118942	56010041	11	1132											
RYR1	6261	broad.mit.edu	37	19	38983214	38983214	+	Missense_Mutation	SNP	G	G	A	rs139775280		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:38983214G>A	ENST00000359596.3	+	38	6212	c.6212G>A	c.(6211-6213)cGg>cAg	p.R2071Q	RYR1_ENST00000355481.4_Missense_Mutation_p.R2071Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R2071Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2071	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R2071L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGAAAGTGCGGCTGGTGAAG	0.592													G|||	1	0.000199681	0	0	5008	,	,		15132	0.001		0	False		,,,				2504	0					ENST00000355481.4											1	Substitution - Missense(1)	lung(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(6211-6213)cGg>cAg	ryanodine receptor 1 (skeletal)	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	53	50	51		6212,6212	2.4	1	19	dbSNP_134	51	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	2071/5039,2071/5034	38983214	1,13005	2203	4300	6503	SO:0001583	missense	6261			muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38983214G>A	J05200	J05200	CCDS33011.1, CCDS42563.1	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17			2014-09-17				ENSG00000196218		ENSG00000196218		"Ion channels / Ryanodine receptors"	"Ion channels / Ryanodine receptors"	10483	10483	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	"protein phosphatase 1, regulatory subunit 137"	180901	180901	"central core disease of muscle"	MHS, MHS1, CCO	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	1862346, 16621918	Standard	Standard	NM_000540	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	uc002oit.3	P21817	P21817			ENST00000359596.3:c.6212G>A	19.37:g.38983214G>A	ENSP00000352608:p.Arg2071Gln		RYR1_ENST00000359596.3_Missense_Mutation_p.R2071Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R2071Q	p.R2071Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		38	6343	+	all_cancers(60;7.91e-06)		2071	6 X approximate repeats.	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6212G>A	CCDS33011.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	14.95	2.687932	0.48097	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72282	-0.64;-0.64;-0.64	5.05	2.44	0.29823	5.05	2.44	0.29823	.	0.173200	0.32134	U	0.006527	T	0.56366	0.1980	L	0.48642	1.525	0.09310	N	0.999995	B;D	0.53151	0.009;0.958	B;B	0.38296	0.003;0.27	T	0.51164	-0.8740	10	0.30854	T	0.27	.	9.4058	0.38460	0.2693:0.0:0.7307:0.0	.	2071;2071	P21817-2;P21817	.;RYR1_HUMAN	Q	2071	ENSP00000352608:R2071Q;ENSP00000347667:R2071Q;ENSP00000354254:R2071Q	ENSP00000347667:R2071Q	R	+	2	0	0	RYR1	43675054	43675054	0.637000	0.27216	0.997000	0.53966	0.970000	0.65996	1.180000	0.32005	1.089000	0.41292	0.539000	0.68188	CGG		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		36.597635	-7	-7	24	24			12	37.134735	37.134735	21	0.363636	0	0	0	1	0	12	21	0.363636	A	38983214	G	A	38983214	3	1	59	1	0	0	0	0	1	0	0	0	13768	1116	39	1	6362	1	RYR1	19	38983214	Missense_Mutation	SNP	G	TCGA-VD-AA8R-01A-11D-A39W-08	35864272	38983214	20145769	12	1133											
ZNF780A	284323	broad.mit.edu	37	19	40581890	40581890	+	Silent	SNP	A	A	G			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:40581890A>G	ENST00000595687.2	-	6	668	c.459T>C	c.(457-459)ccT>ccC	p.P153P	ZNF780A_ENST00000594395.1_Silent_p.P154P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.P154P|ZNF780A_ENST00000450241.2_Silent_p.P119P|ZNF780A_ENST00000340963.5_Silent_p.P153P|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	153					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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGAAGCATGAGGAGTATGAG	0.353																																						ENST00000450241.2											0			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(355-357)ccT>ccC	zinc finger protein 780A						190	163	172					19																	40581890		2203	4300	6503	SO:0001819	synonymous_variant	284323			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581890A>G	AK091274	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782	ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	27603	27603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001142577	NM_001142577		Approved	ZNF780	uc010xvh.2	uc010xvh.2	O75290	O75290	OTTHUMG00000155119	OTTHUMG00000155119	ENST00000595687.2:c.459T>C	19.37:g.40581890A>G			ZNF780A_ENST00000455521.1_Silent_p.P154P|ZNF780A_ENST00000594395.1_Silent_p.P154P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.P153P|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.P153P	p.P119P			O75290	Z780A_HUMAN			6	668	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		153		E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.357T>C	CCDS33026.2																																																																																									0.353	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1		-4.520298	-3	-3	79	79	NM_001010880		3	6.427574	6.427574	50	0.056604	0	0	0	1	0	3	50	0.056604	G	40581890	A	G	40581890	2	3	59	1	0	0	0	0	0	0	0	1	18149	291	11	4		4	ZNF780A	19	40581890	Silent	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08	1598676	40581890	18547093	13	1134											
GTSE1	51512	broad.mit.edu	37	22	46704545	46704545	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr22:46704545A>C	ENST00000454366.1	+	4	679	c.467A>C	c.(466-468)aAa>aCa	p.K156T		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	137					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GAAATGAAGAAAAGCCCCACG	0.532																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1											0			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(466-468)aAa>aCa	G-2 and S-phase expressed 1						58	72	67					22																	46704545		2200	4291	6491	SO:0001583	missense	51512			DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704545A>C	AF223408	AF223408	CCDS14074.2	CCDS14074.2	22q13.2-q13.3	2008-06-10			2008-06-10			ENSG00000075218	ENSG00000075218	ENSG00000075218	ENSG00000075218				13698	13698	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607477	607477						10974554, 10984615, 12750368	10974554, 10984615, 12750368	Standard	Standard	NM_016426	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	uc011aqy.2	Q9NYZ3	Q9NYZ3	OTTHUMG00000150486	OTTHUMG00000150486	ENST00000454366.1:c.467A>C	22.37:g.46704545A>C	ENSP00000415430:p.Lys156Thr			p.K156T	NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	679	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	137		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.467A>C	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509736	0.64522	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.10099	2.91	5.45	2.91	0.33838	5.45	2.91	0.33838	.	0.207947	0.50627	D	0.000113	T	0.27524	0.0676	M	0.68952	2.095	0.31633	N	0.648815	D	0.89917	1.0	D	0.73708	0.981	T	0.21314	-1.0249	10	0.87932	D	0	-24.8417	10.6827	0.45823	0.8429:0.0:0.1571:0.0	.	137	Q9NYZ3	GTSE1_HUMAN	T	156;116	ENSP00000415430:K156T	ENSP00000354634:K116T	K	+	2	0	0	GTSE1	45083209	45083209	0.274000	0.24191	0.857000	0.33713	0.915000	0.54546	0.757000	0.26433	0.855000	0.35359	0.533000	0.62120	AAA		0.532	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2		101.294378	-7	-7	94	94	NM_016426		32	101.444139	101.444139	39	0.450704	0	0	0	1	0	32	39	0.450704	C	46704545	A	C	46704545	3	2	59	1	0	0	0	0	1	0	0	0	6885	14	1	5	477	5	GTSE1	22	46704545	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08		46704545	4600021	14	1135											
EIF1AX	1964	broad.mit.edu	37	X	20156740	20156740	+	Splice_Site	SNP	C	C	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chrX:20156740C>T	ENST00000379607.5	-	2	220	c.17G>A	c.(16-18)gGt>gAt	p.G6D	snoU2-30_ENST00000365012.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	6					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ACCTCCTTTACCTGATGGTTT	0.299																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(16-18)gGt>gAt	eukaryotic translation initiation factor 1A, X-linked						130	120	123					X																	20156740		2203	4300	6503	SO:0001630	splice_region_variant	1964				cytosol	translation initiation factor activity	g.chrX:20156740C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.17-1G>A	X.37:g.20156740C>T			EIF1AX_ENST00000379593.1_Intron	p.G6D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	220	-			6		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	SNP	ENST00000379607.5	37	c.17G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689024	0.68271	.	.	ENSG00000173674	ENST00000379607	T	0.45668	0.89	4.84	4.84	0.62591	4.84	4.84	0.62591	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.73885	0.3644	H	0.95780	3.72	0.80722	D	1	D	0.55800	0.973	D	0.63703	0.917	D	0.83652	0.0156	9	0.87932	D	0	.	17.4345	0.87547	0.0:1.0:0.0:0.0	.	6	P47813	IF1AX_HUMAN	D	6	ENSP00000368927:G6D	ENSP00000368927:G6D	G	-	2	0	0	EIF1AX	20066661	20066661	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.237000	0.78164	2.129000	0.65627	0.600000	0.82982	GGT		0.299	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		115.075213	-25	-25	128	128		Missense_Mutation	34	120.959243	120.959243	4	0.894737	0	0	0	1	0	34	4	0.894737	T	20156740	C	T	20156740	5	4	59	1	0	0	0	0	0	0	1	0	4992	521	18	3	441	3	EIF1AX	23	20156740	Splice_Site	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08		20156740	135113820	15	1136											
MACF1	23499	broad.mit.edu	37	1	39853083	39853083	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr1:39853083G>A	ENST00000372915.3	+	57	14671	c.14584G>A	c.(14584-14586)Ggg>Agg	p.G4862R	MACF1_ENST00000539005.1_Missense_Mutation_p.G2774R|MACF1_ENST00000361689.2_Missense_Mutation_p.G2795R|MACF1_ENST00000289893.4_Missense_Mutation_p.G3297R|MACF1_ENST00000567887.1_Missense_Mutation_p.G4894R|MACF1_ENST00000564288.1_Missense_Mutation_p.G4857R|MACF1_ENST00000545844.1_Missense_Mutation_p.G2795R|MACF1_ENST00000317713.7_Missense_Mutation_p.G2795R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4862					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTGAAGGGGAATCTCT	0.428																																						ENST00000564288.1											0			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14569-14571)Ggg>Agg	microtubule-actin crosslinking factor 1						123	140	134					1																	39853083		2203	4300	6503	SO:0001583	missense	23499			cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853083G>A	AB007934	AB007934	CCDS435.1	CCDS435.1	1p32-p31	2013-01-10			2013-01-10			ENSG00000127603	ENSG00000127603	ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	"EF-hand domain containing"	13664	13664	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271	608271						7635207, 10529403	7635207, 10529403	Standard	Standard	NM_012090	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	uc031pmc.1	Q9UPN3	Q9UPN3	OTTHUMG00000007754	OTTHUMG00000007754	ENST00000372915.3:c.14584G>A	1.37:g.39853083G>A	ENSP00000362006:p.Gly4862Arg		MACF1_ENST00000545844.1_Missense_Mutation_p.G2795R|MACF1_ENST00000539005.1_Missense_Mutation_p.G2774R|MACF1_ENST00000372915.3_Missense_Mutation_p.G4862R|MACF1_ENST00000361689.2_Missense_Mutation_p.G2795R|MACF1_ENST00000317713.7_Missense_Mutation_p.G2795R|MACF1_ENST00000567887.1_Missense_Mutation_p.G4894R|MACF1_ENST00000289893.4_Missense_Mutation_p.G3297R	p.G4857R			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	15346	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4862		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14569G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.347575|4.347575	0.82022|0.82022	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0|.	6.17|6.17	6.17|6.17	0.99709|0.99709	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.77685|0.77685	0.4167|0.4167	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.996;0.996|.	T|T	0.73924|0.73924	-0.3829|-0.3829	10|5	0.66056|.	D|.	0.02|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4862;2795;2739|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	R|K	2795;4862;2795;2795;2774;3297|1907	ENSP00000439537:G2795R;ENSP00000362006:G4862R;ENSP00000354573:G2795R;ENSP00000313438:G2795R;ENSP00000444364:G2774R;ENSP00000289893:G3297R|.	ENSP00000289893:G3297R|.	G|R	+|+	1|2	0|0	0|0	MACF1|MACF1	39625670|39625670	39625670|39625670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		144.068123	-64	-64	146	146	NM_033044		45	144.285113	144.285113	55	0.45	0	0	0	1	0	45	55	0.45	A	39853083	G	A	39853083	3	1	60	1	0	0	0	0	1	0	0	0	9144	1000	35	3	14744	3	MACF1	1	39853083	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		39853083	209397538	1	1137											
C1orf163	65260	broad.mit.edu	37	1	53153670	53153670	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr1:53153670delT	ENST00000371538.3	-	3	457	c.418delA	c.(418-420)aggfs	p.R140fs	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TCACAGGCCCTTGTGTAGTAG	0.542																																						ENST00000371538.3											0			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						c.(418-420)aggfs	Sel1 repeat containing 1						136	115	122					1																	53153670		2203	4300	6503	SO:0001589	frameshift_variant	65260					binding	g.chr1:53153670delT																																																	ENST00000371538.3:c.418delA	1.37:g.53153670delT	ENSP00000360593:p.Arg140fs		SELRC1_ENST00000486918.1_5'UTR	p.R140fs	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN			3	457	-			140			Frame_Shift_Del	DEL	ENST00000371538.3	37	c.418delA	CCDS570.1																																																																																									0.542	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1	.	.	-22	-22	77	77			32			42	0.43						32	42	0.43	-	53153670	T	-	53153670	7	5	60	1	0	1	0	1	0	0	0	0	2011	1608	56	0	281	0	C1orf163	1	53153670	Frame_Shift_Del	DEL	T	TCGA-VD-AA8S-01B-11D-A39W-08	13300587	53153670	196096951	2	1138											
ITPR1	3708	broad.mit.edu	37	3	4725409	4725409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr3:4725409G>A	ENST00000443694.2	+	25	3380	c.3380G>A	c.(3379-3381)tGg>tAg	p.W1127*	ITPR1_ENST00000354582.6_Nonsense_Mutation_p.W1142*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.W1127*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.W1118*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1142					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCAGAGCTTTGGGTGTACAAA	0.463																																						ENST00000354582.6											0			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(3424-3426)tGg>tAg	inositol 1,4,5-trisphosphate receptor, type 1						103	96	98					3																	4725409		1946	4137	6083	SO:0001587	stop_gained	3708			activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4725409G>A	D26070	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28		2014-06-12	2011-04-28			ENSG00000150995		ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	"Ion channels / Inositol triphosphate receptors"	6180	6180	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	"protein phosphatase 1, regulatory subunit 94"	147265	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	7945203, 7500840, 17590087, 17932120, 22986007	Standard	Standard	NM_001099952	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	uc003bqc.3	Q14643	Q14643			ENST00000443694.2:c.3380G>A	3.37:g.4725409G>A	ENSP00000401671:p.Trp1127*		ITPR1_ENST00000423119.2_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.W1127*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.W1133*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.W1118*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.W1127*|ITPR1_ENST00000544951.1_Intron	p.W1142*			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	28	3775	+			1142		E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	c.3425G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	42	9.686899	0.99238	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	4.34	4.34	0.51931	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0171	0.86422	0.0:0.0:1.0:0.0	.	.	.	.	X	1142;1127;1142;1133;1133;1118;1127	.	ENSP00000306253:W1127X	W	+	2	0	0	ITPR1	4700409	4700409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.449000	0.97603	2.419000	0.82065	0.655000	0.94253	TGG		0.463	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		50.992010	-25	-25	34	34	NM_002222		16	51.115005	51.115005	12	0.571429	0	0	0	1	0	16	12	0.571429	A	4725409	G	A	4725409	4	1	60	1	0	0	0	0	0	1	0	0	7920	1357	47	3	3527	3	ITPR1	3	4725409	Nonsense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		4725409	193297021	3	1139											
PCDHA6	56142	broad.mit.edu	37	5	140209783	140209783	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr5:140209783G>A	ENST00000529310.1	+	1	2221	c.2107G>A	c.(2107-2109)Gcc>Acc	p.A703T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	703					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCATCGCCATCTGCGC	0.687																																						ENST00000529310.1											0			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2107-2109)Gcc>Acc							58	60	59					5																	140209783		2203	4296	6499	SO:0001583	missense	0						g.chr5:140209783G>A	AF152484	AF152484	CCDS47281.1, CCDS47282.1	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			2010-11-26			ENSG00000081842	ENSG00000081842	ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8672	8672	other	complex locus constituent	other	complex locus constituent	"KIAA0345-like 8"	"KIAA0345-like 8"	606312	606312		CNRS2		CNRS2		10380929, 10662547	10380929, 10662547	Standard	Standard	NM_018909	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6			Q9UN73	Q9UN73	OTTHUMG00000163353	OTTHUMG00000163353	ENST00000529310.1:c.2107G>A	5.37:g.140209783G>A	ENSP00000433378:p.Ala703Thr		PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.A703T	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2221	+					O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2107G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186855	0.38609	.	.	ENSG00000081842	ENST00000529310	T	0.20463	2.07	4.12	3.23	0.37069	4.12	3.23	0.37069	.	0.000000	0.36482	U	0.002577	T	0.52008	0.1708	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.936	T	0.55879	-0.8071	10	0.87932	D	0	.	4.9613	0.14068	0.0829:0.1465:0.6195:0.1511	.	703;703	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	T	703	ENSP00000433378:A703T	ENSP00000433378:A703T	A	+	1	0	0	PCDHA6	140189967	140189967	0.572000	0.26668	0.917000	0.36280	0.106000	0.19336	1.585000	0.36600	1.059000	0.40554	0.306000	0.20318	GCC		0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		-6.425355	-29	-29	84	84	NM_018909		3	6.461618	6.461618	57	0.05	0	0	0	1	0	3	57	0.05	A	140209783	G	A	140209783	3	1	60	1	0	0	0	0	1	0	0	0	11528	1087	38	1	2109	1	PCDHA6	5	140209783	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		140209783	40705477	4	1140											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		163.608421	-42	-42	70	70	NM_002072		48	164.899767	164.899767	27	0.64	0	0	0	1	0	48	27	0.64	G	80409488	T	G	80409488	3	3	60	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-VD-AA8S-01B-11D-A39W-08		80409488	60803943	5	1141											
ACTL7B	10880	broad.mit.edu	37	9	111617426	111617426	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr9:111617426G>A	ENST00000374667.3	-	1	1813	c.785C>T	c.(784-786)gCg>gTg	p.A262V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	262						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGAAGGCCGCATAGCAGCA	0.612																																						ENST00000374667.3											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(784-786)gCg>gTg	actin-like 7B						50	48	49					9																	111617426		2203	4300	6503	SO:0001583	missense	10880				actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617426G>A	BC033789	BC033789	CCDS6771.1	CCDS6771.1	9q31	2009-05-15			2009-05-15			ENSG00000148156	ENSG00000148156	ENSG00000148156	ENSG00000148156				162	162	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604304	604304						10373328, 12907721	10373328, 12907721	Standard	Standard	NM_006686	NM_006686		Approved	Tact1	uc004bdi.3	uc004bdi.3	Q9Y614	Q9Y614	OTTHUMG00000020462	OTTHUMG00000020462	ENST00000374667.3:c.785C>T	9.37:g.111617426G>A	ENSP00000363799:p.Ala262Val			p.A262V	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1813	-			262		B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.785C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	1.940	-0.443762	0.04604	.	.	ENSG00000148156	ENST00000374667	D	0.89050	-2.46	5.26	4.35	0.52113	5.26	4.35	0.52113	.	0.646195	0.12239	N	0.486687	T	0.60650	0.2285	N	0.00058	-2.35	0.34135	D	0.66565	B	0.20164	0.042	B	0.18561	0.022	T	0.66118	-0.6003	10	0.87932	D	0	.	7.077	0.25209	0.1855:0.0:0.8145:0.0	.	262	Q9Y614	ACL7B_HUMAN	V	262	ENSP00000363799:A262V	ENSP00000363799:A262V	A	-	2	0	0	ACTL7B	110657247	110657247	0.188000	0.23250	0.288000	0.24862	0.176000	0.22953	3.366000	0.52343	2.458000	0.83093	0.655000	0.94253	GCG		0.612	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1		-4.217065	3	3	54	54	NM_006686		3	6.453201	6.453201	49	0.057692	0	0	0	1	0	3	49	0.057692	A	111617426	G	A	111617426	3	1	60	1	0	0	0	0	1	0	0	0	201	1087	38	1	466	1	ACTL7B	9	111617426	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08	31207938	111617426	29596005	6	1142											
AP1G2	8906	ucsc.edu	37	14	24029488	24029488	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:24029488G>T	ENST00000308724.5	-	19	2888	c.2133C>A	c.(2131-2133)ttC>ttA	p.F711L	RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.F711L|RP11-66N24.4_ENST00000555446.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	711	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCTGGCAGATGAAATGGGTGA	0.522											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																	91	83	86					14																	24029488		2203	4300	6503	SO:0001583	missense	8906							AB015318	AB015318	CCDS9602.1	CCDS9602.1	14q11.2	2008-07-03			2008-07-03			ENSG00000213983	ENSG00000213983	ENSG00000213983	ENSG00000213983				556	556	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603534	603534						9733768, 9762922	9733768, 9762922	Standard	Standard	XM_005268167	XM_005268167		Approved	G2AD	uc001wkl.2	uc001wkl.2	O75843	O75843	OTTHUMG00000028760	OTTHUMG00000028760	ENST00000308724.5:c.2133C>A	14.37:g.24029488G>T	ENSP00000312442:p.Phe711Leu	768																D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37		CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445521	0.84101	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852;ENST00000554477	T;T;T	0.58940	0.3;0.3;0.3	4.97	2.84	0.33178	4.97	2.84	0.33178	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.73753	2.245	0.43714	D	0.996189	P;P	0.41393	0.594;0.748	P;P	0.49192	0.448;0.602	T	0.61367	-0.7077	10	0.49607	T	0.09	-20.6426	5.8624	0.18757	0.3174:0.0:0.6826:0.0	.	711;566	O75843;Q86V28	AP1G2_HUMAN;.	L	711;711;480;566;173	ENSP00000312442:F711L;ENSP00000380309:F711L;ENSP00000450805:F173L	ENSP00000312442:F711L	F	-	3	2	2	AP1G2	23099328	23099328	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	1.159000	0.31749	1.138000	0.42230	0.655000	0.94253	TTC		0.522	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4			-25	-25	25	25	NM_003917		4			22							4	22		T	24029488	G	T	24029488	3	4	60	1	0	0	0	0	1	0	0	0	733	1281	45	5	236	5	AP1G2	14	24029488	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		24029488	83320052	7	1143											
KCNK13	56659	broad.mit.edu	37	14	90651142	90651142	+	Missense_Mutation	SNP	G	G	A	rs538269862		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:90651142G>A	ENST00000282146.4	+	2	1463	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	341					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GACGGGCGCCGGCTCTCAGGG	0.612																																						ENST00000282146.4											0			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(1021-1023)cGg>cAg	potassium channel, subfamily K, member 13						52	54	53					14																	90651142		2203	4300	6503	SO:0001583	missense	56659				integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651142G>A	AF287303	AF287303	CCDS9889.1	CCDS9889.1	14q32.11	2012-03-07			2012-03-07				ENSG00000152315		ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	6275	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607367	607367						11060316, 16382106	11060316, 16382106	Standard	Standard	NM_022054	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	uc001xye.1	Q9HB14	Q9HB14			ENST00000282146.4:c.1022G>A	14.37:g.90651142G>A	ENSP00000282146:p.Arg341Gln			p.R341Q	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1463	+		all_cancers(154;0.186)	341		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.1022G>A	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180478	0.57800	.	.	ENSG00000152315	ENST00000282146	T	0.49139	0.79	5.18	4.29	0.51040	5.18	4.29	0.51040	.	0.182554	0.26995	N	0.021441	T	0.69006	0.3063	M	0.83603	2.65	0.58432	D	0.999999	D	0.71674	0.998	D	0.68353	0.957	T	0.73839	-0.3856	10	0.62326	D	0.03	.	13.6466	0.62286	0.075:0.0:0.925:0.0	.	341	Q9HB14	KCNKD_HUMAN	Q	341	ENSP00000282146:R341Q	ENSP00000282146:R341Q	R	+	2	0	0	KCNK13	89720895	89720895	1.000000	0.71417	0.456000	0.27044	0.009000	0.06853	9.842000	0.99487	1.192000	0.43071	-0.136000	0.14681	CGG		0.612	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1		32.149940	-7	-7	63	63	NM_022054		12	33.183984	33.183984	25	0.324324	0	0	0	1	0	12	25	0.324324	A	90651142	G	A	90651142	3	1	60	1	0	0	0	0	1	0	0	0	8061	1116	39	1	1028	1	KCNK13	14	90651142	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08	66621654	90651142	16698398	8	1144											
SERPINA9	327657	broad.mit.edu	37	14	94935951	94935951	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:94935951G>A	ENST00000380365.3	-	2	305	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S58F|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000337425.5_Missense_Mutation_p.S94F			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	76					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CAGGGAAGTGGAGACACTCAC	0.577																																						ENST00000337425.5											0			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(280-282)tCc>tTc	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						73	81	78					14																	94935951		2131	4259	6390	SO:0001583	missense	327657			regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935951G>A	AY185497	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054	ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	"Serine (or cysteine) peptidase inhibitors"	15995	15995	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615677	615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"		"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	24172014	Standard	Standard	NM_175739	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	uc001ydf.3	Q86WD7	Q86WD7	OTTHUMG00000167710	OTTHUMG00000167710	ENST00000380365.3:c.227C>T	14.37:g.94935951G>A	ENSP00000369723:p.Ser76Phe		SERPINA9_ENST00000380365.3_Missense_Mutation_p.S76F|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S58F|SERPINA9_ENST00000298845.7_Intron	p.S94F	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	355	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	76		B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.281C>T		.	.	.	.	.	.	.	.	.	.	G	17.42	3.386000	0.61956	.	.	ENSG00000170054	ENST00000337425;ENST00000380365;ENST00000546329	D;D;D	0.88818	-2.43;-2.43;-2.43	3.99	3.09	0.35607	3.99	3.09	0.35607	Serpin domain (3);	0.000000	0.56097	U	0.000028	D	0.93903	0.8049	M	0.82630	2.6	0.42146	D	0.991532	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.93989	0.7265	10	0.87932	D	0	.	11.8801	0.52571	0.0877:0.0:0.9123:0.0	.	58;76;94	Q86WD7-4;Q86WD7;Q86WD7-7	.;SPA9_HUMAN;.	F	94;76;58	ENSP00000337133:S94F;ENSP00000369723:S76F;ENSP00000445476:S58F	ENSP00000337133:S94F	S	-	2	0	0	SERPINA9	94005704	94005704	1.000000	0.71417	0.334000	0.25495	0.759000	0.43091	3.878000	0.56130	0.797000	0.33971	0.313000	0.20887	TCC		0.577	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2		58.381889	-7	-7	47	47	NM_175739		19	58.496202	58.496202	24	0.44186	0	0	0	1	0	19	24	0.44186	A	94935951	G	A	94935951	3	1	60	1	0	0	0	0	1	0	0	0	14095	1174	41	3	1042	3	SERPINA9	14	94935951	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08	4284809	94935951	12413589	9	1145											
KIF26A	26153	broad.mit.edu	37	14	104633326	104633326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr14:104633326delC	ENST00000423312.2	+	5	1054	c.1054delC	c.(1054-1056)cccfs	p.P353fs	KIF26A_ENST00000315264.7_Frame_Shift_Del_p.P214fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	353					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.C354fs*19(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCCCCGGCGCCCCCCTGCCT	0.731																																						ENST00000315264.7											1	Deletion - Frameshift(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(637-639)cccfs	kinesin family member 26A						8	12	11					14																	104633326		1855	4024	5879	SO:0001589	frameshift_variant	26153			blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104633326delC	AB033062	AB033062	CCDS45171.1	CCDS45171.1	14q32.33	2009-03-19			2009-03-19			ENSG00000066735	ENSG00000066735	ENSG00000066735	ENSG00000066735		"Kinesins"	"Kinesins"	20226	20226	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613231	613231						10574462, 11416179	10574462, 11416179	Standard	Standard	NM_015656	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	uc001yos.4	Q9ULI4	Q9ULI4	OTTHUMG00000154986	OTTHUMG00000154986	ENST00000423312.2:c.1054delC	14.37:g.104633326delC	ENSP00000388241:p.Pro353fs		KIF26A_ENST00000423312.2_Frame_Shift_Del_p.P353fs	p.P214fs			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	4	1015	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	353		Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Del	DEL	ENST00000423312.2	37	c.637delC	CCDS45171.1																																																																																									0.731	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1	.	.	3	3	8	8			2			4	0.33						2	4	0.33	-	104633326	C	-	104633326	7	5	60	1	0	1	0	1	0	0	0	0	8294	739	26	0	1072	0	KIF26A	14	104633326	Frame_Shift_Del	DEL	C	TCGA-VD-AA8S-01B-11D-A39W-08	9697375	104633326	2716214	10	1146											
SOCS7	30837	broad.mit.edu	37	17	36508157	36508159	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	g.chr17:36508157_36508159delGGA	ENST00000577233.1	+	1	30_32	c.30_32delGGA	c.(28-33)ccggag>ccg	p.E13del	SOCS7_ENST00000331159.5_In_Frame_Del_p.E13del	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	13					fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GTCGGCCGCCGGAGGAGGAGGAC	0.788																																						ENST00000577233.1											0			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9						c.(28-33)ccggag>ccg	suppressor of cytokine signaling 7																																			SO:0001651	inframe_deletion	30837			intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding	g.chr17:36508157_36508159delGGA	AB005216	AB005216	CCDS32637.1	CCDS32637.1	17q12	2014-08-12			2014-08-12			ENSG00000274211	ENSG00000274211	ENSG00000274211	ENSG00000274211		"Suppressors of cytokine signaling", "SH2 domain containing"	"Suppressors of cytokine signaling", "SH2 domain containing"	29846	29846	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	"Nck, Ash and phospholipase C binding protein", "NCK-associated protein 4"	608788	608788						9344857, 12076535	9344857, 12076535	Standard	Standard	XM_005257264	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	uc002hqa.3	O14512	O14512	OTTHUMG00000188546	OTTHUMG00000188546	ENST00000577233.1:c.30_32delGGA	17.37:g.36508166_36508168delGGA	ENSP00000464034:p.Glu13del		SOCS7_ENST00000331159.5_In_Frame_Del_p.E13del	p.E13del	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN			1	30_32	+	Breast(7;3.47e-17)		13		A2VCU2|Q0IJ63	In_Frame_Del	DEL	ENST00000577233.1	37	c.30_32delGGA	CCDS32637.1																																																																																									0.788	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	.	.	-2	-2	5	5	XM_371052		2			4	0.33						2	4	0.33	-	36508159	GGA	-	36508157	7	5	60	1	0	1	0	1	0	0	0	0	14919	1103	39	0	32	0	SOCS7	17	36508157	In_Frame_Del	DEL	GGA	TCGA-VD-AA8S-01B-11D-A39W-08		36508157	44687053	11	1147											
TAS1R2	80834	broad.mit.edu	37	1	19180971	19180971	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:19180971delG	ENST00000375371.3	-	3	1014	c.993delC	c.(991-993)cccfs	p.P331fs	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	331					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCCCGGGATGGGCACGCTCT	0.667																																						ENST00000375371.3											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(991-993)cccfs	taste receptor, type 1, member 2						63	63	63					1																	19180971		2203	4300	6503	SO:0001589	frameshift_variant	80834			detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19180971delG			CCDS187.1	CCDS187.1	1p36.13	2012-08-22	2003-03-07		2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002	ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	14905	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606226	606226	"G protein-coupled receptor 71"	GPR71	"G protein-coupled receptor 71"	GPR71				Standard	Standard	NM_152232	NM_152232		Approved	T1R2, TR2	uc001bba.1	uc001bba.1	Q8TE23	Q8TE23	OTTHUMG00000002442	OTTHUMG00000002442	ENST00000375371.3:c.993delC	1.37:g.19180971delG	ENSP00000364520:p.Pro331fs		RP13-279N23.2_ENST00000494072.3_3'UTR	p.P331fs	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	1014	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	331		Q5TZ19	Frame_Shift_Del	DEL	ENST00000375371.3	37	c.993delC	CCDS187.1																																																																																									0.667	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	.	.	2	2	26	26			2			4	0.33						2	4	0.33	-	19180971	G	-	19180971	7	5	61	1	0	1	0	1	0	0	0	0	15560	1335	47	0	1542	0	TAS1R2	1	19180971	Frame_Shift_Del	DEL	G	TCGA-VD-AA8T-01A-11D-A39W-08		19180971	230069650	1	1148											
GIPC2	54810	ucsc.edu	37	1	78591631	78591631	+	Silent	SNP	C	C	A			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:78591631C>A	ENST00000370759.3	+	5	974	c.781C>A	c.(781-783)Cga>Aga	p.R261R		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	261						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CATGGGAATTCGAGATATTGA	0.279																																																	0																	73	77	76					1																	78591631		2203	4299	6502	SO:0001819	synonymous_variant	54810							AB073737	AB073737	CCDS685.1	CCDS685.1	1p31.1	2010-05-28			2010-05-28			ENSG00000137960	ENSG00000137960	ENSG00000137960	ENSG00000137960				18177	18177	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"semaphorin cytoplasmic domain associated protein 2"	"semaphorin cytoplasmic domain associated protein 2"								11836570	11836570	Standard	Standard	NM_017655	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	uc001dik.3	Q8TF65	Q8TF65	OTTHUMG00000041145	OTTHUMG00000041145	ENST00000370759.3:c.781C>A	1.37:g.78591631C>A																		Q8IYD3|Q9NXS7	Silent	SNP	ENST00000370759.3	37		CCDS685.1																																																																																									0.279	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1			0	0	40	40	NM_017655		4			38							4	38		A	78591631	C	A	78591631	2	1	61	1	0	0	0	0	0	0	0	1	6393	876	31	5		5	GIPC2	1	78591631	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	59410660	78591631	170658990	2	1149											
IL24	11009	broad.mit.edu	37	1	207073691	207073691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:207073691C>T	ENST00000294984.2	+	4	566	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Nonsense_Mutation_p.Q99*|IL24_ENST00000367093.3_Nonsense_Mutation_p.Q99*	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	98					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GGAGGTTCTGCAGAACGTCTC	0.552																																						ENST00000367093.3											0			endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(295-297)Cag>Tag	interleukin 24						63	60	61					1																	207073691		2203	4300	6503	SO:0001587	stop_gained	11009			apoptosis	extracellular space	cytokine activity	g.chr1:207073691C>T	U16261	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892	ENSG00000162892	ENSG00000162892		"Interleukins and interleukin receptors"	"Interleukins and interleukin receptors"	11346	11346	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"melanoma differentiation association protein 7", "suppression of tumorigenicity 16 (melanoma differentiation)", "IL-4-induced secreted protein"	"melanoma differentiation association protein 7", "suppression of tumorigenicity 16 (melanoma differentiation)", "IL-4-induced secreted protein"	604136	604136		ST16		ST16		8545104, 8799171	8545104, 8799171	Standard	Standard	NM_001185156	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	uc001heu.2	Q13007	Q13007	OTTHUMG00000036459	OTTHUMG00000036459	ENST00000294984.2:c.292C>T	1.37:g.207073691C>T	ENSP00000294984:p.Gln98*		IL24_ENST00000294984.2_Nonsense_Mutation_p.Q98*|IL24_ENST00000391929.3_Nonsense_Mutation_p.Q99*|IL24_ENST00000491169.1_3'UTR	p.Q99*	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN			4	569	+	Breast(84;0.201)		98		Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Nonsense_Mutation	SNP	ENST00000294984.2	37	c.295C>T	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781078	0.70222	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	.	.	.	4.3	3.39	0.38822	4.3	3.39	0.38822	.	0.873177	0.10153	N	0.709280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.7465	0.28873	0.0:0.8867:0.0:0.1133	.	.	.	.	X	99;98;99	.	ENSP00000294984:Q98X	Q	+	1	0	0	IL24	205140314	205140314	1.000000	0.71417	0.392000	0.26245	0.088000	0.18126	1.668000	0.37481	1.032000	0.39892	0.561000	0.74099	CAG		0.552	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2		69.021168	-1	-1	97	97	NM_006850		23	69.039341	69.039341	25	0.479167	0	0	0	1	0	23	25	0.479167	T	207073691	C	T	207073691	4	4	61	1	0	0	0	0	0	1	0	0	7677	720	25	2	305	2	IL24	1	207073691	Nonsense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	128482060	207073691	42176930	3	1150											
BAP1	8314	broad.mit.edu	37	3	52437669	52437670	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr3:52437669_52437670insA	ENST00000460680.1	-	13	1962_1963	c.1491_1492insT	c.(1489-1494)tctgagfs	p.E498fs	BAP1_ENST00000296288.5_Frame_Shift_Ins_p.E480fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	202					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCCGATCTCAGAGGCCGTGT	0.644			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1489-1494)tctgagfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001589	frameshift_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437669_52437670insA	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1492dupT	3.37:g.52437670_52437670dupA	ENSP00000417132:p.Glu498fs		BAP1_ENST00000296288.5_Frame_Shift_Ins_p.E480fs	p.E498fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1962_1963	-			498		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Ins	INS	ENST00000460680.1	37	c.1491_1492insT	CCDS2853.1																																																																																									0.644	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	4	4	26	26			11			1	0.92						11	1	0.92	A	52437670	-	A	52437669	7	5	61	1	0	1	1	0	0	0	0	0	1311	835	29	0	717	0	BAP1	3	52437669	Frame_Shift_Ins	INS	-	TCGA-VD-AA8T-01A-11D-A39W-08		52437669	145584761	4	1151											
GRM6	2916	broad.mit.edu	37	5	178410055	178410055	+	Silent	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr5:178410055C>T	ENST00000517717.1	-	10	2330	c.2292G>A	c.(2290-2292)acG>acA	p.T764T	GRM6_ENST00000231188.5_Silent_p.T764T|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	764					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACACTGTGCACGTGACCATGA	0.627																																						ENST00000231188.5											0			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2290-2292)acG>acA	glutamate receptor, metabotropic 6						129	106	114					5																	178410055		2203	4300	6503	SO:0001819	synonymous_variant	2916			detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410055C>T	U82083	U82083	CCDS4442.1	CCDS4442.1	5q35	2014-01-28			2014-01-28								"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	4598	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604096	604096						9215706	9215706	Standard	Standard	NM_000843	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	uc003mjr.3	O15303	O15303	OTTHUMG00000130889	OTTHUMG00000130889	ENST00000517717.1:c.2292G>A	5.37:g.178410055C>T			GRM6_ENST00000517717.1_Silent_p.T764T|RP11-281O15.4_ENST00000519491.1_RNA	p.T764T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2470	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	764			Silent	SNP	ENST00000517717.1	37	c.2292G>A	CCDS4442.1																																																																																									0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		80.773761	17	17	77	77			25	80.790414	80.790414	27	0.480769	0	0	0	1	0	25	27	0.480769	T	178410055	C	T	178410055	2	4	61	1	0	0	0	0	0	0	0	1	6801	523	19	1		1	GRM6	5	178410055	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08		178410055	2505205	5	1152											
DOPEY1	23033	broad.mit.edu	37	6	83868338	83868338	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr6:83868338C>T	ENST00000349129.2	+	36	7054	c.6794C>T	c.(6793-6795)tCa>tTa	p.S2265L	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S2256L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2265					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAAGATATTTCACGGTAATAT	0.284																																						ENST00000349129.2											0			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(6793-6795)tCa>tTa	dopey family member 1						55	56	55					6																	83868338		2199	4283	6482	SO:0001583	missense	23033			protein transport			g.chr6:83868338C>T	AK027030	AK027030	CCDS4996.1, CCDS64467.1	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097	ENSG00000083097	ENSG00000083097				21194	21194	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"KIAA1117"	KIAA1117	"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	16301316, 16303751, 10931277	Standard	Standard	NM_015018	NM_015018		Approved	dJ202D23.2	uc011dyy.2	uc011dyy.2	Q5JWR5	Q5JWR5	OTTHUMG00000016365	OTTHUMG00000016365	ENST00000349129.2:c.6794C>T	6.37:g.83868338C>T	ENSP00000195654:p.Ser2265Leu		DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S2256L	p.S2265L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	36	7054	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2265		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.6794C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493494	0.64186	.	.	ENSG00000083097	ENST00000349129	T	0.39787	1.06	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.325105	0.33534	N	0.004808	T	0.12347	0.0300	N	0.08118	0	0.80722	D	1	P;P;P	0.49090	0.919;0.666;0.666	B;B;B	0.37550	0.253;0.162;0.162	T	0.08229	-1.0732	10	0.11182	T	0.66	.	20.1735	0.98170	0.0:1.0:0.0:0.0	.	2156;2256;2265	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	L	2265	ENSP00000195654:S2265L	ENSP00000195654:S2265L	S	+	2	0	0	DOPEY1	83925057	83925057	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.330000	0.79181	2.937000	0.99478	0.650000	0.86243	TCA		0.284	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		41.242544	-9	-9	26	26	NM_015018		14	41.271867	41.271867	16	0.466667	0	0	0	1	0	14	16	0.466667	T	83868338	C	T	83868338	3	4	61	1	0	0	0	0	1	0	0	0	4707	838	29	3	6928	3	DOPEY1	6	83868338	Missense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08		83868338	87246729	6	1153											
C7orf16	10842	broad.mit.edu	37	7	31732078	31732078	+	Missense_Mutation	SNP	A	A	G	rs371948999		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr7:31732078A>G	ENST00000342032.3	+	2	651	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	PPP1R17_ENST00000409146.3_Missense_Mutation_p.Q8R	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	8					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGCAAATGCAGCCACTGGAA	0.438																																						ENST00000342032.3											0										c.(22-24)cAg>cGg	protein phosphatase 1, regulatory subunit 17	A	ARG/GLN,ARG/GLN	0,4406		0,0,2203	118	104	108		23,23	5	1	7		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C7orf16	NM_001145123.2,NM_006658.4	43,43	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	8/105,8/156	31732078	1,13005	2203	4300	6503	SO:0001583	missense	10842			behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31732078A>G	AF071789	AF071789	CCDS5436.1, CCDS47570.1	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	16973	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"G-substrate"	"G-substrate"	604088	604088	"chromosome 7 open reading frame 16"	C7orf16	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	10051666, 9920894	Standard	Standard	NM_006658	NM_006658		Approved	GSBS	uc003tcl.3	uc003tcl.3	O96001	O96001	OTTHUMG00000128629	OTTHUMG00000128629	ENST00000342032.3:c.23A>G	7.37:g.31732078A>G	ENSP00000340125:p.Gln8Arg		PPP1R17_ENST00000409146.3_Missense_Mutation_p.Q8R	p.Q8R	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			2	651	+			8		B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.23A>G	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689711	0.48097	0.0	1.16E-4	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.35421	1.31;1.34	6.16	5.0	0.66597	6.16	5.0	0.66597	.	0.482604	0.21929	N	0.067047	T	0.33789	0.0875	L	0.54323	1.7	0.28909	N	0.892806	P;P	0.46512	0.879;0.879	B;B	0.39258	0.295;0.295	T	0.30387	-0.9980	10	0.54805	T	0.06	-8.7866	12.2987	0.54862	0.7331:0.2669:0.0:0.0	.	8;8	B4DE58;O96001	.;PPR17_HUMAN	R	8	ENSP00000340125:Q8R;ENSP00000386459:Q8R	ENSP00000340125:Q8R	Q	+	2	0	0	C7orf16	31698603	31698603	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.702000	0.47102	1.114000	0.41781	0.528000	0.53228	CAG		0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1		-7.025658	13	13	65	65	NM_006658		3	6.418007	6.418007	59	0.048387	0	0	0	1	0	3	59	0.048387	G	31732078	A	G	31732078	3	3	61	1	0	0	0	0	1	0	0	0	2378	188	7	4	25	4	C7orf16	7	31732078	Missense_Mutation	SNP	A	TCGA-VD-AA8T-01A-11D-A39W-08		31732078	127406585	7	1154											
PPP2R2A	5520	broad.mit.edu	37	8	26212088	26212088	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr8:26212088G>C	ENST00000380737.3	+	4	614	c.285G>C	c.(283-285)aaG>aaC	p.K95N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K105N	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	95					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAGAAGAAAAGATCAACAAAA	0.368																																						ENST00000380737.3											0			kidney(1)|large_intestine(2)|ovary(1)	4						c.(283-285)aaG>aaC	protein phosphatase 2, regulatory subunit B, alpha						95	94	95					8																	26212088		2203	4300	6503	SO:0001583	missense	5520						g.chr8:26212088G>C	M64929	M64929	CCDS34867.1, CCDS55213.1	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	ENSG00000221914	ENSG00000221914	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9304	9304	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"PP2A subunit B isoform alpha"	"PP2A subunit B isoform alpha"	604941	604941	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"		"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"			1849734	1849734	Standard	Standard	NM_001177591	NM_001177591		Approved	PR52A, PR55A, B55A			P63151	P63151	OTTHUMG00000163850	OTTHUMG00000163850	ENST00000380737.3:c.285G>C	8.37:g.26212088G>C	ENSP00000370113:p.Lys95Asn		PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K105N	p.K95N	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	4	614	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)			B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.285G>C	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248856	0.95305	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.30448	1.53;1.53	5.98	5.98	0.97165	5.98	5.98	0.97165	Protein phosphatase 2A, regulatory subunit PR55, conserved site (1);WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.67239	0.2872	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73148	-0.4074	10	0.87932	D	0	-20.2926	20.4434	0.99119	0.0:0.0:1.0:0.0	.	105;95	B4E1T7;P63151	.;2ABA_HUMAN	N	95;105	ENSP00000370113:K95N;ENSP00000325074:K105N	ENSP00000325074:K105N	K	+	3	2	2	PPP2R2A	26268005	26268005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.218000	0.58554	2.838000	0.97847	0.655000	0.94253	AAG		0.368	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2		71.500761	-4	-4	90	90	NM_002717		26	77.233574	77.233574	77	0.252427	0	0	0	1	0	26	77	0.252427	C	26212088	G	C	26212088	3	2	61	1	0	0	0	0	1	0	0	0	12384	933	33	5	340	5	PPP2R2A	8	26212088	Missense_Mutation	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08		26212088	120151934	8	1155											
PTPN3	5774	broad.mit.edu	37	9	112195403	112195403	+	Silent	SNP	G	G	A	rs377671421		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr9:112195403G>A	ENST00000374541.2	-	10	818	c.714C>T	c.(712-714)tcC>tcT	p.S238S	PTPN3_ENST00000446349.1_Silent_p.S107S|PTPN3_ENST00000412145.1_Silent_p.S107S|PTPN3_ENST00000262539.3_Silent_p.S129S	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	238	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAACACCCGCGGAAGCAATTC	0.393																																						ENST00000412145.1											0			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(319-321)tcC>tcT	protein tyrosine phosphatase, non-receptor type 3	G	,,,	0,4406		0,0,2203	134	121	125		714,321,321,714	-12.2	0.1	9		125	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN3	NM_001145368.1,NM_001145369.1,NM_001145370.1,NM_002829.3	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	238/869,107/783,107/738,238/914	112195403	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112195403G>A			CCDS6776.1, CCDS48000.1, CCDS48001.1	CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			2011-06-09			ENSG00000070159	ENSG00000070159	ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	9655	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176877	176877						1648725	1648725	Standard	Standard	NM_002829	NM_002829		Approved	PTPH1	uc004bed.2	uc004bed.2	P26045	P26045	OTTHUMG00000020475	OTTHUMG00000020475	ENST00000374541.2:c.714C>T	9.37:g.112195403G>A			PTPN3_ENST00000262539.3_Silent_p.S129S|PTPN3_ENST00000446349.1_Silent_p.S107S|PTPN3_ENST00000374541.2_Silent_p.S238S	p.S107S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			5	2874	-			238	FERM.	A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.321C>T	CCDS6776.1																																																																																									0.393	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		-7.529862	27	27	91	91			3	6.754191	6.754191	62	0.046154	0	0	0	1	0	3	62	0.046154	A	112195403	G	A	112195403	2	1	61	1	0	0	0	0	0	0	0	1	12789	1103	39	1		1	PTPN3	9	112195403	Silent	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08		112195403	29018028	9	1156											
AMICA1	120425	broad.mit.edu	37	11	118071314	118071314	+	Silent	SNP	C	C	T	rs377621403		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr11:118071314C>T	ENST00000356289.5	-	7	959	c.786G>A	c.(784-786)ccG>ccA	p.P262P	AMICA1_ENST00000526620.1_Silent_p.P223P|AMICA1_ENST00000292067.7_Silent_p.P252P|AMICA1_ENST00000533261.1_Silent_p.P251P	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	262					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAGGGCTGCCGGGGTCACCA	0.522																																						ENST00000292067.7											0			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(754-756)ccG>ccA	adhesion molecule, interacts with CXADR antigen 1	C	,	0,4400		0,0,2200	73	75	75		786,756	-6.4	0	11		75	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	AMICA1	NM_001098526.1,NM_153206.2	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	262/395,252/385	118071314	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	120425			blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118071314C>T	AY138965, AY358362	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11			2013-01-11				ENSG00000160593		ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	"Immunoglobulin superfamily / V-set domain containing"	19084	19084	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609770	609770						12975309	12975309	Standard	Standard	NM_001098526	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	uc001psk.2	Q86YT9	Q86YT9			ENST00000356289.5:c.786G>A	11.37:g.118071314C>T			AMICA1_ENST00000356289.5_Silent_p.P262P|AMICA1_ENST00000533261.1_Silent_p.P251P|AMICA1_ENST00000526620.1_Silent_p.P223P	p.P252P	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	6	1197	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	262		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	ENST00000356289.5	37	c.756G>A	CCDS41723.1																																																																																									0.522	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2		50.899231	9	9	58	58	NM_153206		16	50.905786	50.905786	17	0.484848	0	0	0	1	0	16	17	0.484848	T	118071314	C	T	118071314	2	4	61	1	0	0	0	0	0	0	0	1	574	639	23	1		1	AMICA1	11	118071314	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08		118071314	16935202	10	1157											
TPCN1	53373	broad.mit.edu	37	12	113664727	113664727	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr12:113664727G>T	ENST00000335509.6	+	2	384	c.70G>T	c.(70-72)Gct>Tct	p.A24S	TPCN1_ENST00000541517.1_Missense_Mutation_p.A96S|TPCN1_ENST00000550785.1_Missense_Mutation_p.A96S	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	24					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGCCCCACTGGCTCCCTCCAA	0.582																																						ENST00000550785.1											0			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(286-288)Gct>Tct	two pore segment channel 1						62	54	57					12																	113664727		2203	4300	6503	SO:0001583	missense	53373				endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113664727G>T	AB032995	AB032995	CCDS31908.1, CCDS44985.1	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			2011-07-05			ENSG00000186815	ENSG00000186815	ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	"Voltage-gated ion channels / Two-pore channels"	18182	18182	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609666	609666						10574461, 10753632, 16382101	10574461, 10753632, 16382101	Standard	Standard	XM_005253905	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	uc001tux.3	Q9ULQ1	Q9ULQ1	OTTHUMG00000169625	OTTHUMG00000169625	ENST00000335509.6:c.70G>T	12.37:g.113664727G>T	ENSP00000335300:p.Ala24Ser		TPCN1_ENST00000541517.1_Missense_Mutation_p.A96S|TPCN1_ENST00000335509.6_Missense_Mutation_p.A24S	p.A96S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			3	455	+			24		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.286G>T	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065925	0.36470	.	.	ENSG00000186815	ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000551099;ENST00000335509;ENST00000550785;ENST00000549279;ENST00000541517	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	4.88	0.851	0.18989	4.88	0.851	0.18989	.	0.539355	0.17831	N	0.160542	T	0.26340	0.0643	L	0.36672	1.1	0.25357	N	0.988814	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.001	T	0.17349	-1.0372	10	0.22109	T	0.4	4.2607	4.9598	0.14061	0.1893:0.3357:0.475:0.0	.	96;24	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	S	79;110;24;96;24;24;96;24;96	ENSP00000449560:A79S;ENSP00000447569:A110S;ENSP00000447073:A24S;ENSP00000447263:A96S;ENSP00000335300:A24S;ENSP00000448083:A96S;ENSP00000438125:A96S	ENSP00000335300:A24S	A	+	1	0	0	TPCN1	112149110	112149110	0.977000	0.34250	0.587000	0.28692	0.916000	0.54674	0.804000	0.27098	-0.014000	0.14175	0.462000	0.41574	GCT		0.582	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3		21.490945	-6	-6	38	38	NM_017901		8	22.210751	22.210751	17	0.32	1	0	2.17888e-05	1	2.17888e-05	8	17	0.32	T	113664727	G	T	113664727	3	4	61	1	0	0	0	0	1	0	0	0	16392	1203	42	5	292	5	TPCN1	12	113664727	Missense_Mutation	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08		113664727	20187168	11	1158											
ADAM21	8747	broad.mit.edu	37	14	70925884	70925884	+	Silent	SNP	T	T	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr14:70925884T>C	ENST00000603540.1	+	2	1926	c.1668T>C	c.(1666-1668)tcT>tcC	p.S556S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.S556S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	556	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTCATATCTCTGATGTCTTTT	0.383																																						ENST00000603540.1											0			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(1666-1668)tcT>tcC	ADAM metallopeptidase domain 21						39	50	46					14																	70925884		2187	4290	6477	SO:0001819	synonymous_variant	8747			proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925884T>C	AF029900	AF029900	CCDS9804.1	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985	ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	"ADAM metallopeptidase domain containing"	200	200	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603713	603713	"a disintegrin and metalloproteinase domain 21"		"a disintegrin and metalloproteinase domain 21"			9469942	9469942	Standard	Standard	NM_003813	NM_003813		Approved	ADAM31	uc001xmd.3	uc001xmd.3	Q9UKJ8	Q9UKJ8			ENST00000603540.1:c.1668T>C	14.37:g.70925884T>C			RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.S556S	p.S556S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1926	+			556	Cys-rich.	O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.1668T>C	CCDS9804.1																																																																																									0.383	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		73.252976	-29	-29	55	55			25	73.257653	73.257653	26	0.490196	0	0	0	1	0	25	26	0.490196	C	70925884	T	C	70925884	2	2	61	1	0	0	0	0	0	0	0	1	243	1567	55	4		4	ADAM21	14	70925884	Silent	SNP	T	TCGA-VD-AA8T-01A-11D-A39W-08		70925884	36423656	12	1159											
MYH11	4629	broad.mit.edu	37	16	15814858	15814860	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr16:15814858_15814860delCTC	ENST00000300036.5	-	33	4736_4738	c.4627_4629delGAG	c.(4627-4629)gagdel	p.E1543del	MYH11_ENST00000452625.2_In_Frame_Del_p.E1550del|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_In_Frame_Del_p.E1543del|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_In_Frame_Del_p.E1550del	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1543					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGTCTTCATCTCCTCCATCTGG	0.611			T	CBFB	AML																																	ENST00000452625.2		Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4648-4650)gagdel	myosin, heavy chain 11, smooth muscle																																			SO:0001651	inframe_deletion	4629			axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15814858_15814860delCTC	X69292	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392	ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	"Myosins / Myosin superfamily : Class II"	7569	7569	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			160745	160745	"myosin, heavy polypeptide 11, smooth muscle"		"myosin, heavy polypeptide 11, smooth muscle"			7684189	7684189	Standard	Standard	NM_001040113	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	uc002ddx.3	P35749	P35749	OTTHUMG00000129935	OTTHUMG00000129935	ENST00000300036.5:c.4627_4629delGAG	16.37:g.15814861_15814863delCTC	ENSP00000300036:p.Glu1543del		NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_In_Frame_Del_p.E1543del|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_In_Frame_Del_p.E1550del|MYH11_ENST00000300036.5_In_Frame_Del_p.E1543del|NDE1_ENST00000396354.1_Intron	p.E1550del	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN			34	4735_4737	-			1543		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	In_Frame_Del	DEL	ENST00000300036.5	37	c.4648_4650delGAG	CCDS10565.1																																																																																									0.611	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	.	.	-6	-6	116	116	NM_001040113		26			65	0.29						26	65	0.29	-	15814860	CTC	-	15814858	7	5	61	1	0	1	0	1	0	0	0	0	10031	912	32	0	1360	0	MYH11	16	15814858	In_Frame_Del	DEL	CTC	TCGA-VD-AA8T-01A-11D-A39W-08		15814858	74539895	13	1160											
FOXL1	2300	broad.mit.edu	37	16	86612675	86612675	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr16:86612675C>T	ENST00000320241.3	+	1	561	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	116					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CGAGAAAGGGCGGCCGGGCAA	0.657																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3											0			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(346-348)Cgg>Tgg	forkhead box L1						71	76	74					16																	86612675		2198	4300	6498	SO:0001583	missense	2300			brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86612675C>T	AF315075	AF315075	CCDS10959.1	CCDS10959.1	16q24	2014-07-15			2014-07-15			ENSG00000176678	ENSG00000176678	ENSG00000176678	ENSG00000176678		"Forkhead boxes"	"Forkhead boxes"	3817	3817	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603252	603252		FKHL11		FKHL11		7957066	7957066	Standard	Standard	NM_005250	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	uc002fjr.3	Q12952	Q12952	OTTHUMG00000137653	OTTHUMG00000137653	ENST00000320241.3:c.346C>T	16.37:g.86612675C>T	ENSP00000326272:p.Arg116Trp			p.R116W	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	561	+			116		Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.346C>T	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159965	0.57368	.	.	ENSG00000176678	ENST00000320241	D	0.95690	-3.78	3.93	2.95	0.34219	3.93	2.95	0.34219	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.075221	0.53938	D	0.000045	D	0.97309	0.9120	M	0.85197	2.74	0.46564	D	0.999103	D	0.89917	1.0	D	0.77004	0.989	D	0.96961	0.9701	10	0.87932	D	0	.	10.1866	0.43002	0.3608:0.6392:0.0:0.0	.	116	Q12952	FOXL1_HUMAN	W	116	ENSP00000326272:R116W	ENSP00000326272:R116W	R	+	1	2	2	FOXL1	85170176	85170176	0.010000	0.17322	0.981000	0.43875	0.801000	0.45260	0.248000	0.18198	0.823000	0.34589	0.491000	0.48974	CGG		0.657	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2		-13.868082	-25	-25	99	99	NM_005250		4	7.515892	7.515892	91	0.042105	0	0	0	1	0	4	91	0.042105	T	86612675	C	T	86612675	3	4	61	1	0	0	0	0	1	0	0	0	6016	759	27	1	348	1	FOXL1	16	86612675	Missense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	70797817	86612675	3742078	14	1161											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		60.062185	4	4	85	85	NM_002067		21	60.646349	60.646349	33	0.388889	0	0	0	1	0	21	33	0.388889	T	3118942	A	T	3118942	3	4	61	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-VD-AA8T-01A-11D-A39W-08		3118942	56010041	15	1162											
RYR1	6261	broad.mit.edu	37	19	38979906	38979906	+	Silent	SNP	C	C	T	rs143418190	byFrequency	TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:38979906C>T	ENST00000359596.3	+	35	5637	c.5637C>T	c.(5635-5637)gaC>gaT	p.D1879D	RYR1_ENST00000355481.4_Silent_p.D1879D|RYR1_ENST00000360985.3_Silent_p.D1879D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1879	6 X approximate repeats.|Glu-rich (acidic).				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	aggaggaggacgaggaggaag	0.498																																						ENST00000355481.4											0			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5635-5637)gaC>gaT	ryanodine receptor 1 (skeletal)	C	,	1,4405	2.1+/-5.4	0,1,2202	91	75	80		5637,5637	-0.6	0.9	19	dbSNP_134	80	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	,	1879/5039,1879/5034	38979906	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	6261			muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38979906C>T	J05200	J05200	CCDS33011.1, CCDS42563.1	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17			2014-09-17				ENSG00000196218		ENSG00000196218		"Ion channels / Ryanodine receptors"	"Ion channels / Ryanodine receptors"	10483	10483	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	"protein phosphatase 1, regulatory subunit 137"	180901	180901	"central core disease of muscle"	MHS, MHS1, CCO	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	1862346, 16621918	Standard	Standard	NM_000540	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	uc002oit.3	P21817	P21817			ENST00000359596.3:c.5637C>T	19.37:g.38979906C>T			RYR1_ENST00000359596.3_Silent_p.D1879D|RYR1_ENST00000360985.3_Silent_p.D1879D	p.D1879D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		35	5768	+	all_cancers(60;7.91e-06)		1879	6 X approximate repeats.|Glu-rich (acidic).	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.5637C>T	CCDS33011.1																																																																																									0.498	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		32.722253	7	7	31	31			11	32.758519	32.758519	13	0.458333	0	0	0	1	0	11	13	0.458333	T	38979906	C	T	38979906	2	4	61	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	38979906	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	35860964	38979906	20149077	16	1163											
FCGRT	2217	broad.mit.edu	37	19	50028774	50028774	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:50028774C>T	ENST00000221466.5	+	6	1418	c.932C>T	c.(931-933)aCg>aTg	p.T311M	FCGRT_ENST00000599988.1_Missense_Mutation_p.T45M|FCGRT_ENST00000426395.3_Missense_Mutation_p.T311M|FCGRT_ENST00000596975.1_Missense_Mutation_p.T219M|RCN3_ENST00000270645.3_5'Flank	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	311					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTGCTACTCACGGCAGCGGCT	0.612																																						ENST00000221466.5											0			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(931-933)aCg>aTg	Fc fragment of IgG, receptor, transporter, alpha						81	70	74					19																	50028774		2203	4300	6503	SO:0001583	missense	2217			antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50028774C>T	U12255	U12255	CCDS12770.1	CCDS12770.1	19q13.3	2013-01-11			2013-01-11				ENSG00000104870		ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	"Immunoglobulin superfamily / C1-set domain containing"	3621	3621	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601437	601437						7964511, 8646894	7964511, 8646894	Standard	Standard	NM_001136019	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	uc002pog.2	P55899	P55899			ENST00000221466.5:c.932C>T	19.37:g.50028774C>T	ENSP00000221466:p.Thr311Met		FCGRT_ENST00000599988.1_Missense_Mutation_p.T45M|FCGRT_ENST00000426395.3_Missense_Mutation_p.T311M|FCGRT_ENST00000596975.1_Missense_Mutation_p.T219M	p.T311M	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	6	1418	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	311		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.932C>T	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	8.545	0.874235	0.17395	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00711	5.8;5.8	3.93	-2.75	0.05914	3.93	-2.75	0.05914	.	3.584560	0.00772	N	0.001203	T	0.00666	0.0022	N	0.11064	0.09	0.09310	N	1	B	0.26602	0.154	B	0.11329	0.006	T	0.48768	-0.9006	10	0.87932	D	0	.	9.3362	0.38051	0.0:0.4716:0.0:0.5284	.	311	P55899	FCGRN_HUMAN	M	311	ENSP00000221466:T311M;ENSP00000410798:T311M	ENSP00000221466:T311M	T	+	2	0	0	FCGRT	54720586	54720586	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.019000	0.01442	-0.641000	0.05487	-0.993000	0.02533	ACG		0.612	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1		51.734862	-2	-2	85	85			18	52.939461	52.939461	35	0.339623	0	0	0	1	0	18	35	0.339623	T	50028774	C	T	50028774	3	4	61	1	0	0	0	0	1	0	0	0	5786	536	19	1	950	1	FCGRT	19	50028774	Missense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	11048868	50028774	9100209	17	1164											
ZNF836	162962	broad.mit.edu	37	19	52659256	52659256	+	Silent	SNP	G	G	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:52659256G>C	ENST00000322146.8	-	5	2201	c.1680C>G	c.(1678-1680)ggC>ggG	p.G560G	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.G560G	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	560					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(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGAAGACCTTGCCACACACAT	0.383																																						ENST00000322146.8											0			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1678-1680)ggC>ggG	zinc finger protein 836						165	176	172					19																	52659256		2052	4237	6289	SO:0001819	synonymous_variant	162962			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659256G>C	BC011784	BC011784	CCDS46162.1	CCDS46162.1	19q13.33	2013-01-08			2013-01-08			ENSG00000196267	ENSG00000196267	ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	34333	34333	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001102657	NM_001102657		Approved	FLJ16287	uc010ydj.2	uc010ydj.2	Q6ZNA1	Q6ZNA1			ENST00000322146.8:c.1680C>G	19.37:g.52659256G>C			ZNF836_ENST00000597252.1_Silent_p.G560G|CTC-471J1.8_ENST00000594362.1_RNA	p.G560G	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2201	-			560			Silent	SNP	ENST00000322146.8	37	c.1680C>G	CCDS46162.1																																																																																									0.383	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1		158.622991	2	2	197	197	NM_001102657		54	162.348999	162.348999	106	0.3375	0	0	0	1	0	54	106	0.3375	C	52659256	G	C	52659256	2	2	61	1	0	0	0	0	0	0	0	1	18184	1306	46	5		5	ZNF836	19	52659256	Silent	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08	2630482	52659256	6469727	18	1165											
RRBP1	6238	broad.mit.edu	37	20	17639295	17639295	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr20:17639295T>C	ENST00000377813.1	-	3	2161	c.1858A>G	c.(1858-1860)Aag>Gag	p.K620E	RRBP1_ENST00000360807.4_Missense_Mutation_p.K190E|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Missense_Mutation_p.K190E|RRBP1_ENST00000246043.4_Missense_Mutation_p.K620E			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	620					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCCTCTTGCTTTGGTGCCTCT	0.473																																						ENST00000377813.1											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(1858-1860)Aag>Gag	ribosome binding protein 1						152	139	143					20																	17639295		2203	4300	6503	SO:0001583	missense	6238			protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17639295T>C	AB037819	AB037819	CCDS13128.1	CCDS13128.1	20p12	2012-12-07	2012-12-07		2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844	ENSG00000125844	ENSG00000125844				10448	10448	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601418	601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"		"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	8812507	Standard	Standard	NM_001042576	NM_001042576		Approved	ES/130, hES	uc002wpw.1	uc002wpw.1	Q9P2E9	Q9P2E9	OTTHUMG00000031945	OTTHUMG00000031945	ENST00000377813.1:c.1858A>G	20.37:g.17639295T>C	ENSP00000367044:p.Lys620Glu		RRBP1_ENST00000246043.4_Missense_Mutation_p.K620E|RRBP1_ENST00000377807.2_Missense_Mutation_p.K190E|RRBP1_ENST00000360807.4_Missense_Mutation_p.K190E|RRBP1_ENST00000455029.2_Intron	p.K620E			Q9P2E9	RRBP1_HUMAN			3	2161	-			620		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.1858A>G		.	.	.	.	.	.	.	.	.	.	T	15.22	2.768536	0.49680	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.41	4.29	0.51040	5.41	4.29	0.51040	.	0.000000	0.37857	N	0.001901	T	0.31857	0.0810	L	0.46157	1.445	0.80722	D	1	B	0.31435	0.323	B	0.24006	0.05	T	0.07139	-1.0788	10	0.10111	T	0.7	-43.68	6.5132	0.22234	0.0:0.0794:0.1584:0.7622	.	190	Q9P2E9-3	.	E	190;620;190;620	ENSP00000354045:K190E;ENSP00000367044:K620E;ENSP00000367038:K190E;ENSP00000246043:K620E	ENSP00000246043:K620E	K	-	1	0	0	RRBP1	17587295	17587295	0.998000	0.40836	0.993000	0.49108	0.299000	0.27559	3.475000	0.53136	0.984000	0.38629	0.482000	0.46254	AAG		0.473	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1		141.351072	0	0	140	140	NM_001042576		45	142.296109	142.296109	67	0.401786	0	0	0	1	0	45	67	0.401786	C	17639295	T	C	17639295	3	2	61	1	0	0	0	0	1	0	0	0	13678	1850	64	4	2457	4	RRBP1	20	17639295	Missense_Mutation	SNP	T	TCGA-VD-AA8T-01A-11D-A39W-08		17639295	45386225	19	1166											
PRIC285	85441	broad.mit.edu	37	20	62193474	62193474	+	Silent	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr20:62193474C>T	ENST00000467148.1	-	10	6549	c.6480G>A	c.(6478-6480)gcG>gcA	p.A2160A	HELZ2_ENST00000427522.2_Silent_p.A1591A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2160	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCTCCCTGACCGCCACGTTCT	0.672																																						ENST00000467148.1											0										c.(6478-6480)gcG>gcA	helicase with zinc finger 2, transcriptional coactivator						16	19	18					20																	62193474		2188	4279	6467	SO:0001819	synonymous_variant	85441						g.chr20:62193474C>T	AB201715	AB201715	CCDS13527.1, CCDS33508.1	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			2012-09-26			ENSG00000130589	ENSG00000130589	ENSG00000130589	ENSG00000130589				30021	30021	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265	611265						11214970, 12189208, 16239304	11214970, 12189208, 16239304	Standard	Standard	NM_001037335	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	uc002yfm.2	Q9BYK8	Q9BYK8	OTTHUMG00000032969	OTTHUMG00000032969	ENST00000467148.1:c.6480G>A	20.37:g.62193474C>T			HELZ2_ENST00000427522.2_Silent_p.A1591A	p.A2160A	NM_001037335.2	NP_001032412.2					10	6549	-					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.6480G>A	CCDS33508.1																																																																																									0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		16.275172	0	0	22	22	NM_001037335		5	16.275172	16.275172	5	0.5	0	0	0	1	0	5	5	0.5	T	62193474	C	T	62193474	2	4	61	1	0	0	0	0	0	0	0	1	12485	639	23	1		1	PRIC285	20	62193474	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	44554179	62193474	832046	20	1167											
GCFC1	94104	broad.mit.edu	37	21	34117154	34117154	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr21:34117154delT	ENST00000331923.4	-	13	2328	c.2139delA	c.(2137-2139)aaafs	p.K713fs	PAXBP1_ENST00000290178.4_Frame_Shift_Del_p.K713fs|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	713					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATTGATTAATTTTAGTGTAA	0.313																																						ENST00000331923.4											0										c.(2137-2139)aaafs	PAX3 and PAX7 binding protein 1						109	121	117					21																	34117154		2203	4298	6501	SO:0001589	frameshift_variant	94104						g.chr21:34117154delT	AF231920	AF231920	CCDS13619.1, CCDS33541.1	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086	ENSG00000159086	ENSG00000159086				13579	13579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"			"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1	"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	11707072, 22862948	Standard	Standard	NM_016631	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	uc002yqn.3	Q9Y5B6	Q9Y5B6	OTTHUMG00000064980	OTTHUMG00000064980	ENST00000331923.4:c.2139delA	21.37:g.34117154delT	ENSP00000328992:p.Lys713fs		PAXBP1_ENST00000290178.4_Frame_Shift_Del_p.K713fs	p.K713fs	NM_016631.3	NP_057715.2					13	2328	-					D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Del	DEL	ENST00000331923.4	37	c.2139delA	CCDS13619.1																																																																																									0.313	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	.	.	-9	-9	133	133	NM_013329		38			60	0.39						38	60	0.39	-	34117154	T	-	34117154	7	5	61	1	0	1	0	1	0	0	0	0	6289	1490	52	0	756	0	GCFC1	21	34117154	Frame_Shift_Del	DEL	T	TCGA-VD-AA8T-01A-11D-A39W-08		34117154	14012741	21	1168											
HIAT1	64645	broad.mit.edu	37	1	100503800	100503802	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:100503800_100503802delGAA	ENST00000370152.3	+	1	148_150	c.12_14delGAA	c.(10-15)gggaag>ggg	p.K8del	RP4-714D9.5_ENST00000564623.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	8	Poly-Lys.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TGACCCAGGGGAAGAAGAAGAAA	0.635																																						ENST00000370152.3											0			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(10-15)gggaag>ggg	hippocampus abundant transcript 1			19,4167		5,9,2079						2.9	1			62	43,8053		16,11,4021	no	coding	HIAT1	NM_033055.2		21,20,6100	A1A1,A1R,RR		0.5311,0.4539,0.5048				62,12220				SO:0001651	inframe_deletion	64645			transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100503800_100503802delGAA	AK096669	AK096669	CCDS763.1	CCDS763.1	1p21.3	2008-02-05			2008-02-05			ENSG00000156875	ENSG00000156875	ENSG00000156875	ENSG00000156875				23363	23363	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										9299464	9299464	Standard	Standard	NM_033055	NM_033055		Approved	DKFZP564L0864	uc001dst.3	uc001dst.3	Q96MC6	Q96MC6	OTTHUMG00000010755	OTTHUMG00000010755	ENST00000370152.3:c.12_14delGAA	1.37:g.100503809_100503811delGAA	ENSP00000359171:p.Lys8del			p.K8del	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	1	148_150	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	8	Poly-Lys.	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	In_Frame_Del	DEL	ENST00000370152.3	37	c.12_14delGAA	CCDS763.1																																																																																									0.635	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	.	.	-6	-6	4	4	NM_033055		2			4	0.33						2	4	0.33	-	100503802	GAA	-	100503800	7	5	62	1	0	1	0	1	0	0	0	0	7097	1161	41	0	14	0	HIAT1	1	100503800	In_Frame_Del	DEL	GAA	TCGA-WC-A87T-01A-11D-A39W-08		100503800	148746821	1	1169											
SMG7	9887	broad.mit.edu	37	1	183502394	183502394	+	Missense_Mutation	SNP	T	T	G			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:183502394T>G	ENST00000347615.2	+	9	1058	c.939T>G	c.(937-939)aaT>aaG	p.N313K	SMG7_ENST00000456731.2_Missense_Mutation_p.N271K|SMG7_ENST00000508461.1_Missense_Mutation_p.N271K|SMG7_ENST00000367537.3_Missense_Mutation_p.N342K|SMG7_ENST00000507469.1_Missense_Mutation_p.N313K|SMG7_ENST00000515829.2_Missense_Mutation_p.N313K	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	313					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACTTTAGCAATGAAACCGAGC	0.418																																						ENST00000367537.3											0			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1024-1026)aaT>aaG	SMG7 nonsense mediated mRNA decay factor						226	209	215					1																	183502394		2203	4300	6503	SO:0001583	missense	9887			mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183502394T>G	D87437	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698	ENSG00000116698	ENSG00000116698				16792	16792	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	14636577, 15721257	Standard	Standard	NM_173156	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	uc001gqf.3	Q92540	Q92540	OTTHUMG00000035221	OTTHUMG00000035221	ENST00000347615.2:c.939T>G	1.37:g.183502394T>G	ENSP00000340766:p.Asn313Lys		SMG7_ENST00000508461.1_Missense_Mutation_p.N271K|SMG7_ENST00000507469.1_Missense_Mutation_p.N313K|SMG7_ENST00000515829.2_Missense_Mutation_p.N313K|SMG7_ENST00000347615.2_Missense_Mutation_p.N313K|SMG7_ENST00000456731.2_Missense_Mutation_p.N271K	p.N342K			Q92540	SMG7_HUMAN			10	1221	+			313		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1026T>G	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	T	3.627	-0.076412	0.07184	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.81	0.93	0.19454	5.81	0.93	0.19454	.	0.238105	0.42821	D	0.000644	T	0.08891	0.0220	N	0.19112	0.55	0.49687	D	0.999814	B;B;B;B;B;B	0.24317	0.101;0.002;0.001;0.002;0.007;0.005	B;B;B;B;B;B	0.22152	0.038;0.01;0.004;0.006;0.013;0.016	T	0.28396	-1.0045	10	0.08179	T	0.78	-5.7791	11.0757	0.48030	0.0:0.4007:0.0:0.5993	.	271;342;271;313;313;313	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	K	271;342;271;271;313;313;313	ENSP00000407629:N271K;ENSP00000356507:N342K;ENSP00000426915:N271K;ENSP00000388390:N271K;ENSP00000340766:N313K;ENSP00000425133:N313K;ENSP00000421358:N313K	ENSP00000340766:N313K	N	+	3	2	2	SMG7	181769017	181769017	0.845000	0.29573	0.996000	0.52242	0.963000	0.63663	-0.097000	0.11042	-0.080000	0.12685	0.533000	0.62120	AAT		0.418	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1		-40.508057	-64	-64	175	175	NM_014837		5	9.540697	9.540697	195	0.025	0	0	0	1	0	5	195	0.025	G	183502394	T	G	183502394	3	3	62	1	0	0	0	0	1	0	0	0	14798	1461	51	5	973	5	SMG7	1	183502394	Missense_Mutation	SNP	T	TCGA-WC-A87T-01A-11D-A39W-08	82998594	183502394	65748227	2	1170											
ZNF281	23528	broad.mit.edu	37	1	200377456	200377456	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:200377456T>C	ENST00000294740.3	-	2	1502	c.1378A>G	c.(1378-1380)Aag>Gag	p.K460E	ZNF281_ENST00000367352.3_Missense_Mutation_p.K424E|ZNF281_ENST00000367353.1_Missense_Mutation_p.K460E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	460					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCACCCTCTTCTGCAGTTCA	0.378																																						ENST00000294740.3											0			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1378-1380)Aag>Gag	zinc finger protein 281						117	111	113					1																	200377456		2203	4300	6503	SO:0001583	missense	23528			negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377456T>C	AF125158	AF125158	CCDS1402.1, CCDS60384.1	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			2012-08-08			ENSG00000162702	ENSG00000162702	ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	13075	13075	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10448078	10448078	Standard	Standard	NM_012482	NM_012482		Approved	ZBP-99	uc001gve.3	uc001gve.3	Q9Y2X9	Q9Y2X9	OTTHUMG00000035724	OTTHUMG00000035724	ENST00000294740.3:c.1378A>G	1.37:g.200377456T>C	ENSP00000294740:p.Lys460Glu		ZNF281_ENST00000367353.1_Missense_Mutation_p.K460E|ZNF281_ENST00000367352.3_Missense_Mutation_p.K424E	p.K460E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1502	-					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1378A>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602047	0.46423	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.07567	3.19;3.19;3.18	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.271893	0.34338	N	0.004057	T	0.10637	0.0260	L	0.44542	1.39	0.34157	D	0.66818	D;D	0.58268	0.982;0.982	P;P	0.51777	0.679;0.679	T	0.03000	-1.1084	10	0.05525	T	0.97	-8.5188	10.3232	0.43777	0.0:0.0732:0.0:0.9268	.	424;460	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	460;460;424;165	ENSP00000294740:K460E;ENSP00000356322:K460E;ENSP00000356321:K424E	ENSP00000294740:K460E	K	-	1	0	0	ZNF281	198644079	198644079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.414000	0.52693	2.153000	0.67306	0.533000	0.62120	AAG		0.378	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2		78.568303	-8	-8	50	50	NM_012482		25	78.708236	78.708236	31	0.446429	0	0	0	1	0	25	31	0.446429	C	200377456	T	C	200377456	3	2	62	1	0	0	0	0	1	0	0	0	17815	1792	62	4	1313	4	ZNF281	1	200377456	Missense_Mutation	SNP	T	TCGA-WC-A87T-01A-11D-A39W-08	16875062	200377456	48873165	3	1171											
LMOD3	56203	broad.mit.edu	37	3	69168367	69168367	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr3:69168367G>A	ENST00000420581.2	-	2	1318	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	LMOD3_ENST00000489031.1_Missense_Mutation_p.P380L|LMOD3_ENST00000475434.1_Missense_Mutation_p.P380L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	380						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCTGGGACCCGGAAGCTCAAA	0.473																																						ENST00000420581.2											0			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1138-1140)cCg>cTg	leiomodin 3 (fetal)						112	107	109					3																	69168367		1902	4116	6018	SO:0001583	missense	56203				cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168367G>A	AK096900	AK096900	CCDS46862.1	CCDS46862.1	3p14.1	2003-03-07			2003-03-07			ENSG00000163380	ENSG00000163380	ENSG00000163380	ENSG00000163380				6649	6649	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_198271	NM_198271		Approved		uc003dns.2	uc003dns.2	Q0VAK6	Q0VAK6	OTTHUMG00000158774	OTTHUMG00000158774	ENST00000420581.2:c.1139C>T	3.37:g.69168367G>A	ENSP00000414670:p.Pro380Leu		LMOD3_ENST00000475434.1_Missense_Mutation_p.P380L|LMOD3_ENST00000489031.1_Missense_Mutation_p.P380L	p.P380L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1318	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	380		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.1139C>T	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826465	0.71143	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.92699	-3.09;-3.09;-3.09	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.049022	0.85682	D	0.000000	D	0.95050	0.8397	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	D	0.94874	0.8033	10	0.72032	D	0.01	-15.7896	20.1466	0.98079	0.0:0.0:1.0:0.0	.	380	Q0VAK6	LMOD3_HUMAN	L	380	ENSP00000414670:P380L;ENSP00000417210:P380L;ENSP00000418645:P380L	ENSP00000414670:P380L	P	-	2	0	0	LMOD3	69251057	69251057	1.000000	0.71417	0.507000	0.27676	0.890000	0.51754	7.876000	0.87215	2.779000	0.95612	0.591000	0.81541	CCG		0.473	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1		7.543280	-7	-7	91	91	XM_067529		8	19.566647	19.566647	69	0.103896	0	0	0	1	0	8	69	0.103896	A	69168367	G	A	69168367	3	1	62	1	0	0	0	0	1	0	0	0	8858	1116	39	1	551	1	LMOD3	3	69168367	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		69168367	128854063	4	1172											
SLC6A19	340024	ucsc.edu	37	5	1210680	1210680	+	Silent	SNP	C	C	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr5:1210680C>A	ENST00000304460.10	+	3	521	c.465C>A	c.(463-465)ctC>ctA	p.L155L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	155					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTGCCCGCTCAACGAGAACC	0.542																																																	0																	73	68	70					5																	1210680		2203	4300	6503	SO:0001819	synonymous_variant	340024							AK096054	AK096054	CCDS34130.1	CCDS34130.1	5p15	2013-07-19			2013-07-19			ENSG00000174358	ENSG00000174358	ENSG00000174358	ENSG00000174358		"Solute carriers"	"Solute carriers"	27960	27960	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Hartnup disease"	"Hartnup disease"	608893	608893								Standard	Standard	NM_001003841	NM_001003841		Approved		uc003jbw.4	uc003jbw.4	Q695T7	Q695T7	OTTHUMG00000161636	OTTHUMG00000161636	ENST00000304460.10:c.465C>A	5.37:g.1210680C>A																		A8K446	Silent	SNP	ENST00000304460.10	37		CCDS34130.1																																																																																									0.542	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1			-15	-15	26	26	XM_291120		4			26							4	26		A	1210680	C	A	1210680	2	1	62	1	0	0	0	0	0	0	0	1	14682	813	29	5		5	SLC6A19	5	1210680	Silent	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		1210680	179704580	5	1173											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		107.971932	-3	-3	109	109	NM_002072		33	107.984741	107.984741	35	0.485294	0	0	0	1	0	33	35	0.485294	G	80409488	T	G	80409488	3	3	62	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-A87T-01A-11D-A39W-08		80409488	60803943	6	1174											
CYP2C8	1558	broad.mit.edu	37	10	96798695	96798695	+	Missense_Mutation	SNP	C	C	T	rs141209951	byFrequency	TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr10:96798695C>T	ENST00000371270.3	-	8	1344	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	CYP2C8_ENST00000535898.1_Missense_Mutation_p.G315D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	417					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	CTTAAAGTTGCCATTCTTATC	0.368																																						ENST00000371270.3											0			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1249-1251)gGc>gAc	cytochrome P450, family 2, subfamily C, polypeptide 8						116	108	111					10																	96798695		2203	4300	6503	SO:0001583	missense	1558			exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96798695C>T	M17397	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115	ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	"Cytochrome P450s"	2622	2622	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601129	601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"		"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	7841444	Standard	Standard	NM_001198853	NM_001198853		Approved	CPC8	uc001kkb.3	uc001kkb.3	P10632	P10632	OTTHUMG00000018804	OTTHUMG00000018804	ENST00000371270.3:c.1250G>A	10.37:g.96798695C>T	ENSP00000360317:p.Gly417Asp		CYP2C8_ENST00000535898.1_Missense_Mutation_p.G315D	p.G417D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	8	1344	-		Colorectal(252;0.0397)	417		A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1250G>A	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501172	0.44455	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898	T;T	0.71341	-0.56;-0.56	4.09	3.19	0.36642	4.09	3.19	0.36642	.	0.070459	0.56097	U	0.000029	D	0.84266	0.5434	M	0.90082	3.085	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.71870	0.957;0.975;0.957	D	0.85721	0.1325	10	0.87932	D	0	.	9.7771	0.40626	0.0:0.8959:0.0:0.1041	.	315;385;417	B7Z1F6;B7Z8S1;P10632	.;.;CP2C8_HUMAN	D	417;384;315	ENSP00000360317:G417D;ENSP00000445062:G315D	ENSP00000360317:G417D	G	-	2	0	0	CYP2C8	96788685	96788685	0.995000	0.38212	0.555000	0.28281	0.234000	0.25298	3.404000	0.52623	1.067000	0.40740	0.591000	0.81541	GGC		0.368	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2		-5.057291	-16	-16	90	90	NM_000770		4	8.532786	8.532786	63	0.059701	0	0	0	1	0	4	63	0.059701	T	96798695	C	T	96798695	3	4	62	1	0	0	0	0	1	0	0	0	4167	739	26	2	230	2	CYP2C8	10	96798695	Missense_Mutation	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		96798695	38736052	7	1175											
IQSEC3	440073	broad.mit.edu	37	12	266746	266746	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr12:266746G>A	ENST00000538872.1	+	7	2447	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N	IQSEC3_ENST00000326261.4_Missense_Mutation_p.D777N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D474N			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	777	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACAACCCCGACACCATCTT	0.597																																						ENST00000538872.1											0			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2329-2331)Gac>Aac	IQ motif and Sec7 domain 3						314	214	248					12																	266746		2203	4300	6503	SO:0001583	missense	440073			regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:266746G>A	AB029033	AB029033	CCDS31725.1, CCDS53728.1	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			2014-03-18			ENSG00000120645	ENSG00000120645	ENSG00000120645	ENSG00000120645				29193	29193	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612118	612118						10470851	10470851	Standard	Standard	NM_001170738	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	uc001qhw.2	Q9UPP2	Q9UPP2	OTTHUMG00000167975	OTTHUMG00000167975	ENST00000538872.1:c.2329G>A	12.37:g.266746G>A	ENSP00000437554:p.Asp777Asn		IQSEC3_ENST00000326261.4_Missense_Mutation_p.D777N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D474N	p.D777N			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	7	2447	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		777	SEC7.	A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2329G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215596	0.95104	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	D;D;D	0.82619	-1.63;-1.63;-1.63	4.51	4.51	0.55191	4.51	4.51	0.55191	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.044756	0.85682	D	0.000000	D	0.92922	0.7748	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94723	0.7902	10	0.87932	D	0	.	17.5649	0.87917	0.0:0.0:1.0:0.0	.	777;474	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	N	777;777;474	ENSP00000437554:D777N;ENSP00000315662:D777N;ENSP00000372292:D474N	ENSP00000315662:D777N	D	+	1	0	0	IQSEC3	137007	137007	1.000000	0.71417	0.965000	0.40720	0.908000	0.53690	9.805000	0.99149	2.233000	0.73108	0.491000	0.48974	GAC		0.597	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		106.564319	-22	-22	79	79	XM_495902		36	107.789773	107.789773	59	0.378947	0	0	0	1	0	36	59	0.378947	A	266746	G	A	266746	3	1	62	1	0	0	0	0	1	0	0	0	7819	1058	37	1	2355	1	IQSEC3	12	266746	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		266746	133585149	8	1176											
MYH7	4625	broad.mit.edu	37	14	23888716	23888716	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr14:23888716G>A	ENST00000355349.3	-	28	3991	c.3829C>T	c.(3829-3831)Cgg>Tgg	p.R1277W	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1277					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AACTTGGCCCGCTGGCTGGTG	0.602																																						ENST00000355349.3											0			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3829-3831)Cgg>Tgg	myosin, heavy chain 7, cardiac muscle, beta						105	94	98					14																	23888716		2203	4300	6503	SO:0001583	missense	4625			adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23888716G>A	M58018	M58018	CCDS9601.1	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054	ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	"Myosins / Myosin superfamily : Class II"	7577	7577	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			160760	160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	2494889, 8483915, 15322983	Standard	Standard	XM_005267696	XM_005267696		Approved	CMD1S	uc001wjx.3	uc001wjx.3	P12883	P12883	OTTHUMG00000028755	OTTHUMG00000028755	ENST00000355349.3:c.3829C>T	14.37:g.23888716G>A	ENSP00000347507:p.Arg1277Trp			p.R1277W	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	28	3991	-	all_cancers(95;2.54e-05)		1277		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3829C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091150	0.76756	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79749	-1.3	4.99	4.03	0.46877	4.99	4.03	0.46877	Myosin tail (1);	.	.	.	.	D	0.90328	0.6974	M	0.88450	2.955	0.46167	D	0.998903	D	0.71674	0.998	D	0.69654	0.965	D	0.92093	0.5682	9	0.87932	D	0	.	15.3347	0.74241	0.0:0.0:0.8136:0.1863	.	1277	P12883	MYH7_HUMAN	W	1277;1282	ENSP00000347507:R1277W	ENSP00000347507:R1277W	R	-	1	2	2	MYH7	22958556	22958556	0.950000	0.32346	1.000000	0.80357	0.998000	0.95712	0.789000	0.26886	2.602000	0.87976	0.655000	0.94253	CGG		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		-21.100786	-30	-30	100	100	NM_000257		4	7.120066	7.120066	115	0.033613	0	0	0	1	0	4	115	0.033613	A	23888716	G	A	23888716	3	1	62	1	0	0	0	0	1	0	0	0	10039	1086	38	1	2030	1	MYH7	14	23888716	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		23888716	83460824	9	1177											
ZSCAN10	84891	broad.mit.edu	37	16	3140133	3140133	+	Silent	SNP	G	G	A	rs371075023		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr16:3140133G>A	ENST00000252463.2	-	5	1224	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C	ZSCAN10_ENST00000538082.2_Silent_p.C297C|ZSCAN10_ENST00000575108.1_Silent_p.C40C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	379					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCACTCTGCGCACAGGAAGG	0.711																																						ENST00000252463.2											0			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1135-1137)tgC>tgT	zinc finger and SCAN domain containing 10	G		0,4190		0,0,2095	19	25	23		1137	-2.9	0.9	16		23	1,8115		0,1,4057	no	coding-synonymous	ZSCAN10	NM_032805.1		0,1,6152	AA,AG,GG		0.0123,0.0,0.0081		379/726	3140133	1,12305	2095	4058	6153	SO:0001819	synonymous_variant	84891			negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140133G>A	AA206569	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	"-", "Zinc fingers, C2H2-type"	12997	12997	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger protein 206"	ZNF206	"zinc finger protein 206"	ZNF206		9653642	9653642	Standard	Standard	NM_032805	NM_032805		Approved		uc002ctv.1	uc002ctv.1	Q96SZ4	Q96SZ4			ENST00000252463.2:c.1137C>T	16.37:g.3140133G>A			ZSCAN10_ENST00000575108.1_Silent_p.C40C|ZSCAN10_ENST00000538082.2_Silent_p.C297C	p.C379C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1224	-			379		B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.1137C>T	CCDS10493.1																																																																																									0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		-8.428582	-1	-1	55	55	NM_032805		3	6.41468	6.41468	64	0.044776	0	0	0	1	0	3	64	0.044776	A	3140133	G	A	3140133	2	1	62	1	0	0	0	0	0	0	0	1	18224	1079	38	1		1	ZSCAN10	16	3140133	Silent	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		3140133	87214620	10	1178											
ZNF747	65988	broad.mit.edu	37	16	30544430	30544430	+	Missense_Mutation	SNP	G	G	A	rs377029293		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr16:30544430G>A	ENST00000252799.3	-	2	1193	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ZNF747_ENST00000535210.1_Missense_Mutation_p.T128M|ZNF747_ENST00000569360.1_Missense_Mutation_p.T128M|ZNF747_ENST00000568028.1_Missense_Mutation_p.T128M|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175W|AC002310.12_ENST00000569752.1_RNA|AC002310.12_ENST00000457283.3_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	176					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						CAGGGCTCCCGTCCCTTCCCT	0.602																																						ENST00000252799.3											0			kidney(1)|lung(3)|prostate(1)	5						c.(526-528)Cgg>Tgg	zinc finger protein 747	G	TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	82	83	83		526	-1.2	0	16		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF747	NM_023931.2	101	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	benign	176/192	30544430	2,12992	2197	4300	6497	SO:0001583	missense	65988			regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544430G>A	BC001361	BC001361	CCDS10682.1	CCDS10682.1	16p11.2	2013-01-08			2013-01-08			ENSG00000169955	ENSG00000169955	ENSG00000169955	ENSG00000169955		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	28350	28350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10493829	10493829	Standard	Standard	NM_023931	NM_023931		Approved	MGC2474	uc002dyn.3	uc002dyn.3	Q9BV97	Q9BV97	OTTHUMG00000132401	OTTHUMG00000132401	ENST00000252799.3:c.526C>T	16.37:g.30544430G>A	ENSP00000252799:p.Arg176Trp		ZNF747_ENST00000569360.1_Missense_Mutation_p.T128M|ZNF747_ENST00000535210.1_Missense_Mutation_p.T128M|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175W|ZNF747_ENST00000568028.1_Missense_Mutation_p.T128M	p.R176W	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN			2	1193	-			176		A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.526C>T	CCDS10682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.889307|1.889307	0.33348|0.33348	2.28E-4|2.28E-4	1.16E-4|1.16E-4	ENSG00000169955|ENSG00000169955	ENST00000252799;ENST00000395094|ENST00000535210	T;T|T	0.02552|0.04862	4.3;4.25|3.54	2.73|2.73	-1.19|-1.19	0.09585|0.09585	2.73|2.73	-1.19|-1.19	0.09585|0.09585	.|.	.|.	.|.	.|.	.|.	T|T	0.03434|0.03434	0.0099|0.0099	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.47459|0.47459	-0.9116|-0.9116	9|7	0.72032|0.33141	D|T	0.01|0.24	.|.	8.0234|8.0234	0.30423|0.30423	0.1104:0.2932:0.5964:0.0|0.1104:0.2932:0.5964:0.0	.|.	175;176|.	Q9BV97-2;Q9BV97|.	.;ZN747_HUMAN|.	W|M	176;175|128	ENSP00000252799:R176W;ENSP00000378528:R175W|ENSP00000441702:T128M	ENSP00000252799:R176W|ENSP00000441702:T128M	R|T	-|-	1|2	2|0	2|0	ZNF747|ZNF747	30451931|30451931	30451931|30451931	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.084000|0.084000	0.17831|0.17831	0.445000|0.445000	0.21677|0.21677	-0.254000|-0.254000	0.09500|0.09500	-1.786000|-1.786000	0.00637|0.00637	CGG|ACG		0.602	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2		-5.616991	-21	-21	46	46	NM_023931		3	6.430536	6.430536	54	0.052632	0	0	0	1	0	3	54	0.052632	A	30544430	G	A	30544430	3	1	62	1	0	0	0	0	1	0	0	0	18127	1144	40	1	53	1	ZNF747	16	30544430	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08	27404297	30544430	59810323	11	1179											
NCAN	1463	broad.mit.edu	37	19	19349148	19349148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr19:19349148G>T	ENST00000252575.6	+	11	3436	c.3337G>T	c.(3337-3339)Gag>Tag	p.E1113*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.E564*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGAAGATGCCGAGAAGGACTG	0.632																																						ENST00000252575.6											0			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3337-3339)Gag>Tag	neurocan						45	52	50					19																	19349148		2203	4300	6503	SO:0001587	stop_gained	1463			axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19349148G>T	AF026547	AF026547	CCDS12397.1	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	2465	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"neurocan proteoglycan"	"neurocan proteoglycan"	600826	600826	"chondroitin sulfate proteoglycan 3"	CSPG3	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	1326557, 21353194	Standard	Standard	NM_004386	NM_004386		Approved		uc002nlz.3	uc002nlz.3	O14594	O14594			ENST00000252575.6:c.3337G>T	19.37:g.19349148G>T	ENSP00000252575:p.Glu1113*		NCAN_ENST00000538881.1_Nonsense_Mutation_p.E564*	p.E1113*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3436	+				C-type lectin.	Q9UPK6	Nonsense_Mutation	SNP	ENST00000252575.6	37	c.3337G>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	39	7.464936	0.98299	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	.	.	.	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.220233	0.23912	N	0.043340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3064	0.73995	0.0:0.0:1.0:0.0	.	.	.	.	X	1127;1113;564	.	ENSP00000252575:E1113X	E	+	1	0	0	NCAN	19210148	19210148	1.000000	0.71417	0.971000	0.41717	0.938000	0.57974	9.506000	0.97992	2.464000	0.83262	0.561000	0.74099	GAG		0.632	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2		-5.015774	-2	-2	56	56	NM_004386		3	6.478313	6.478313	52	0.054545	1	0	1	1	1	3	52	0.054545	T	19349148	G	T	19349148	4	4	62	1	0	0	0	0	0	1	0	0	10204	1059	37	5	3375	5	NCAN	19	19349148	Nonsense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		19349148	39779835	12	1180											
PSG1	5669	broad.mit.edu	37	19	43382400	43382400	+	Missense_Mutation	SNP	G	G	A	rs200054291		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr19:43382400G>A	ENST00000436291.2	-	2	211	c.95C>T	c.(94-96)aCc>aTc	p.T32I	PSG1_ENST00000244296.2_Missense_Mutation_p.T32I|PSG1_ENST00000403380.3_Missense_Mutation_p.T32I|PSG1_ENST00000595124.1_Missense_Mutation_p.T32I|PSG1_ENST00000595356.1_Missense_Mutation_p.T32I|PSG1_ENST00000312439.6_Missense_Mutation_p.T32I|PSG1_ENST00000601073.1_5'UTR	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	32					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTGGGCAGTGGTGGGCAGGTT	0.488																																						ENST00000244296.2											0			breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(94-96)aCc>aTc	pregnancy specific beta-1-glycoprotein 1						141	153	149					19																	43382400		2203	4299	6502	SO:0001583	missense	0						g.chr19:43382400G>A			CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			2013-01-29			ENSG00000231924	ENSG00000231924	ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	9514	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176390	176390		PSBG1		PSBG1				Standard	Standard	NM_006905	NM_006905		Approved	PSGGA, CD66f, PBG1			P11464	P11464	OTTHUMG00000151123	OTTHUMG00000151123	ENST00000436291.2:c.95C>T	19.37:g.43382400G>A	ENSP00000413041:p.Thr32Ile		PSG1_ENST00000436291.2_Missense_Mutation_p.T32I|PSG1_ENST00000595356.1_Missense_Mutation_p.T32I|PSG1_ENST00000312439.6_Missense_Mutation_p.T32I|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.T32I|PSG1_ENST00000595124.1_Missense_Mutation_p.T32I	p.T32I	NM_006905.2	NP_008836.2					2	232	-		Prostate(69;0.00682)			O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.95C>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	5.996	0.367739	0.11352	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.39592	1.08;5.64;1.07;1.11	1.64	-0.684	0.11331	1.64	-0.684	0.11331	.	.	.	.	.	T	0.44582	0.1300	M	0.67397	2.05	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.32507	0.329;0.052;0.047;0.024;0.09;0.106;0.373;0.026;0.071	B;B;B;B;B;B;B;B;B	0.43575	0.248;0.093;0.067;0.049;0.037;0.16;0.424;0.025;0.106	T	0.51616	-0.8683	9	0.66056	D	0.02	.	4.1776	0.10360	0.4059:0.0:0.5941:0.0	.	32;32;32;32;32;32;32;32;32	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	I	32	ENSP00000413041:T32I;ENSP00000385386:T32I;ENSP00000308970:T32I;ENSP00000244296:T32I	ENSP00000244296:T32I	T	-	2	0	0	PSG1	48074240	48074240	0.021000	0.18746	0.006000	0.13384	0.002000	0.02628	-0.520000	0.06252	-0.084000	0.12595	-1.207000	0.01640	ACC		0.488	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		357.450827	-86	-86	183	183			110	358.985344	358.985344	74	0.597826	0	0	0	1	0	110	74	0.597826	A	43382400	G	A	43382400	3	1	62	1	0	0	0	0	1	0	0	0	12653	1261	44	3	1237	3	PSG1	19	43382400	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08	24033252	43382400	15746583	13	1181											
OSBPL2	9885	broad.mit.edu	37	20	60868864	60868864	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr20:60868864C>G	ENST00000313733.3	+	14	1566	c.1364C>G	c.(1363-1365)cCc>cGc	p.P455R	OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000439951.2_Missense_Mutation_p.P322A|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P443R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	455					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGCAATAACCCCTACACTGGG	0.582																																						ENST00000313733.3											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1363-1365)cCc>cGc	oxysterol binding protein-like 2						55	51	52					20																	60868864		2203	4300	6503	SO:0001583	missense	9885			lipid transport		lipid binding	g.chr20:60868864C>G	AB018315	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703	ENSG00000130703	ENSG00000130703		"Oxysterol binding proteins"	"Oxysterol binding proteins"	15761	15761	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606731	606731	"oxysterol-binding protein-like 2"		"oxysterol-binding protein-like 2"			10588946, 11861666	10588946, 11861666	Standard	Standard	NM_144498	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	uc002yck.1	Q9H1P3	Q9H1P3	OTTHUMG00000032909	OTTHUMG00000032909	ENST00000313733.3:c.1364C>G	20.37:g.60868864C>G	ENSP00000316649:p.Pro455Arg		OSBPL2_ENST00000439951.2_Missense_Mutation_p.P322A|OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P443R	p.P455R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		14	1566	+	Breast(26;7.76e-09)		455		A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.1364C>G	CCDS13495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.097111|4.097111	0.76870|0.76870	.|.	.|.	ENSG00000130703|ENSG00000130703	ENST00000439951|ENST00000358053;ENST00000313733	T|T;T	0.53206|0.31510	0.63|1.49;1.49	4.04|4.04	4.04|4.04	0.47022|0.47022	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.110120|0.110120	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.60573|0.60573	0.2279|0.2279	M|M	0.87900|0.87900	2.915|2.915	0.36876|0.36876	D|D	0.889151|0.889151	B|D;D	0.23316|0.71674	0.083|0.997;0.998	B|D;D	0.19946|0.76575	0.027|0.972;0.988	T|T	0.75054|0.75054	-0.3453|-0.3453	10|10	0.87932|0.72032	D|D	0|0.01	-11.8721|-11.8721	15.7764|15.7764	0.78224|0.78224	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	322|443;455	E7ET92|Q9H1P3-2;Q9H1P3	.|.;OSBL2_HUMAN	A|R	322|443;455	ENSP00000397602:P322A|ENSP00000350755:P443R;ENSP00000316649:P455R	ENSP00000397602:P322A|ENSP00000316649:P455R	P|P	+|+	1|2	0|0	0|0	OSBPL2|OSBPL2	60302259|60302259	60302259|60302259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.817000|0.817000	0.46193|0.46193	5.538000|5.538000	0.67193|0.67193	1.798000|1.798000	0.52647|0.52647	0.561000|0.561000	0.74099|0.74099	CCT|CCC		0.582	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1		69.583866	-33	-33	71	71	NM_014835		24	70.191037	70.191037	37	0.393443	0	0	0	1	0	24	37	0.393443	G	60868864	C	G	60868864	3	3	62	1	0	0	0	0	1	0	0	0	11278	623	22	5	1414	5	OSBPL2	20	60868864	Missense_Mutation	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		60868864	2156656	14	1182											
SLC25A6	293	broad.mit.edu	37	X	1508133	1508133	+	Splice_Site	SNP	C	C	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chrX:1508133C>A	ENST00000381401.5	-	2	1313		c.e2+1		SLC25A6_ENST00000475167.1_Splice_Site	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6						active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	gccACACGTACCCTTGGCCGT	0.627																																						ENST00000381401.5											0			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.e2+1	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6						71	66	68					X																	1508133		2203	4296	6499	SO:0001630	splice_region_variant	293			active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508133C>A	AY007135	AY007135	CCDS14114.1	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			2013-05-22			ENSG00000169100	ENSG00000169100	ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	10992	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300151, 403000	300151, 403000		ANT3		ANT3				Standard	Standard	NM_001636	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	uc004cpt.3	P12236	P12236	OTTHUMG00000021058	OTTHUMG00000021058	ENST00000381401.5:c.598+1G>T	X.37:g.1508133C>A			SLC25A6_ENST00000475167.1_Splice_Site		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1313	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Q96C49	Splice_Site	SNP	ENST00000381401.5	37		CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	6.611	0.481076	0.12581	.	.	ENSG00000169100	ENST00000381401	.	.	.	1.7	1.7	0.24286	1.7	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.999903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7314	0.51739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SLC25A6	1468133	1468133	1.000000	0.71417	0.058000	0.19502	0.092000	0.18411	5.896000	0.69822	0.888000	0.36160	0.402000	0.26972	.		0.627	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1		-3.816728	-13	-13	38	38	NM_001636	Intron	3	6.306405	6.306405	47	0.06	1	0	0.004672	1	0.00494682	3	47	0.06	A	1508133	C	A	1508133	5	1	62	1	0	0	0	0	0	0	1	0	14513	521	18	5	309	5	SLC25A6	23	1508133	Splice_Site	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		1508133	153762427	15	1183											
UBR4	23352	broad.mit.edu	37	1	19492233	19492233	+	Silent	SNP	G	G	A	rs143052374		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr1:19492233G>A	ENST00000375254.3	-	30	4155	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I	UBR4_ENST00000375217.2_Silent_p.I1376I|UBR4_ENST00000375267.2_Silent_p.I1376I|UBR4_ENST00000375226.2_Silent_p.I1376I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1376					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTCCTCCAGGATGGATTCAT	0.433																																						ENST00000375267.2											0			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4126-4128)atC>atT	ubiquitin protein ligase E3 component n-recognin 4	G		4,4402	9.9+/-24.2	0,4,2199	76	74	75		4128	4.8	1	1	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	UBR4	NM_020765.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		1376/5184	19492233	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23352			interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19492233G>A	AF348492	AF348492	CCDS189.1	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	"Ubiquitin protein ligase E3 component n-recognins"	30313	30313	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609890	609890	"zinc finger, UBR1 type 1"	ZUBR1	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	14702039, 10718198, 16055722	Standard	Standard	XM_005245802	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	uc001bbi.3	Q5T4S7	Q5T4S7	OTTHUMG00000002498	OTTHUMG00000002498	ENST00000375254.3:c.4128C>T	1.37:g.19492233G>A			UBR4_ENST00000375254.3_Silent_p.I1376I|UBR4_ENST00000375217.2_Silent_p.I1376I|UBR4_ENST00000375226.2_Silent_p.I1376I	p.I1376I			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	30	4131	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1376		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.4128C>T	CCDS189.1																																																																																									0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		46.316831	17	17	68	68	NM_020765		15	46.685447	46.685447	23	0.394737	0	0	0	1	0	15	23	0.394737	A	19492233	G	A	19492233	2	1	63	1	0	0	0	0	0	0	0	1	16901	1164	41	3		3	UBR4	1	19492233	Silent	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		19492233	229758388	1	1184											
NBEAL2	23218	broad.mit.edu	37	3	47041744	47041744	+	Silent	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr3:47041744G>A	ENST00000450053.3	+	27	4334	c.4155G>A	c.(4153-4155)caG>caA	p.Q1385Q	NBEAL2_ENST00000292309.5_Silent_p.Q1201Q|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1385					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGCCAGCCAGCCCGGCACTC	0.652																																						ENST00000450053.3											0			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4153-4155)caG>caA	neurobeachin-like 2						39	45	43					3																	47041744		2102	4212	6314	SO:0001819	synonymous_variant	23218					binding	g.chr3:47041744G>A	AB011112	AB011112	CCDS46817.1	CCDS46817.1	3p21.31	2014-09-17			2014-09-17			ENSG00000160796	ENSG00000160796	ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	"WD repeat domain containing"	31928	31928	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614169	614169								Standard	Standard	NM_015175	NM_015175		Approved	KIAA0540	uc003cqp.3	uc003cqp.3	Q6ZNJ1	Q6ZNJ1	OTTHUMG00000156497	OTTHUMG00000156497	ENST00000450053.3:c.4155G>A	3.37:g.47041744G>A			NBEAL2_ENST00000292309.5_Silent_p.Q1201Q|NBEAL2_ENST00000383740.2_5'UTR	p.Q1385Q	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4334	+		Acute lymphoblastic leukemia(5;0.0534)	1385		O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.4155G>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	5.485	0.274490	0.10403	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.48	1.15	0.20763	5.48	1.15	0.20763	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52056	-0.8626	4	.	.	.	.	9.8571	0.41092	0.3452:0.0:0.6548:0.0	.	.	.	.	N	673	.	.	S	+	2	0	0	NBEAL2	47016748	47016748	1.000000	0.71417	0.999000	0.59377	0.644000	0.38419	0.930000	0.28858	0.297000	0.22615	-0.258000	0.10820	AGC		0.652	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3		50.371641	27	27	78	78	XM_291064		17	50.487025	50.487025	13	0.566667	0	0	0	1	0	17	13	0.566667	A	47041744	G	A	47041744	2	1	63	1	0	0	0	0	0	0	0	1	10189	962	34	2		2	NBEAL2	3	47041744	Silent	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		47041744	150980686	2	1185											
GPR87	53836	broad.mit.edu	37	3	151012731	151012731	+	Missense_Mutation	SNP	A	A	C			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr3:151012731A>C	ENST00000260843.4	-	3	767	c.303T>G	c.(301-303)gaT>gaG	p.D101E	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	101					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAATCCTGCATCATGGACTA	0.383																																						ENST00000260843.4											0			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(301-303)gaT>gaG	G protein-coupled receptor 87						132	131	131					3																	151012731		2203	4300	6503	SO:0001583	missense	0				integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012731A>C	AF237763	AF237763	CCDS3157.1	CCDS3157.1	3q24	2012-08-21			2012-08-21			ENSG00000138271	ENSG00000138271	ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	"GPCR / Class A : Orphans"	4538	4538	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606379	606379		GPR95		GPR95		11273702	11273702	Standard	Standard	NM_023915	NM_023915		Approved		uc003eyt.2	uc003eyt.2	Q9BY21	Q9BY21	OTTHUMG00000159858	OTTHUMG00000159858	ENST00000260843.4:c.303T>G	3.37:g.151012731A>C	ENSP00000260843:p.Asp101Glu		MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	p.D101E	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	767	-			101		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.303T>G	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263596	0.59431	.	.	ENSG00000138271	ENST00000260843	T	0.38240	1.15	5.31	-8.55	0.00908	5.31	-8.55	0.00908	GPCR, rhodopsin-like superfamily (1);	0.131721	0.49916	D	0.000132	T	0.38054	0.1026	M	0.80508	2.5	0.09310	N	0.99999	P	0.49447	0.924	P	0.47864	0.559	T	0.47262	-0.9131	10	0.23302	T	0.38	-4.0025	13.9406	0.64052	0.2591:0.0:0.6434:0.0975	.	101	Q9BY21	GPR87_HUMAN	E	101	ENSP00000260843:D101E	ENSP00000260843:D101E	D	-	3	2	2	GPR87	152495421	152495421	0.003000	0.15002	0.008000	0.14137	0.843000	0.47879	-0.922000	0.04004	-1.751000	0.01326	-0.290000	0.09829	GAT		0.383	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1		63.218361	37	37	109	109			19	63.521761	63.521761	27	0.413043	0	0	0	1	0	19	27	0.413043	C	151012731	A	C	151012731	3	2	63	1	0	0	0	0	1	0	0	0	6716	214	8	5	777	5	GPR87	3	151012731	Missense_Mutation	SNP	A	TCGA-WC-A87U-01A-11D-A39W-08	103970987	151012731	47009699	3	1186											
SLC12A7	10723	broad.mit.edu	37	5	1060463	1060463	+	Missense_Mutation	SNP	C	C	A	rs143654475		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr5:1060463C>A	ENST00000264930.5	-	21	2886	c.2843G>T	c.(2842-2844)cGa>cTa	p.R948L	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	948					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGTACCTCTCGCTCCTGCTC	0.562																																						ENST00000264930.5											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2842-2844)cGa>cTa	solute carrier family 12 (potassium/chloride transporter), member 7						172	139	150					5																	1060463		2203	4300	6503	SO:0001583	missense	10723			potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1060463C>A	AF105365	AF105365	CCDS34129.1	CCDS34129.1	5p15	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504	ENSG00000113504	ENSG00000113504		"Solute carriers"	"Solute carriers"	10915	10915	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604879	604879						10347194	10347194	Standard	Standard	NM_006598	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	uc003jbu.3	Q9Y666	Q9Y666	OTTHUMG00000161931	OTTHUMG00000161931	ENST00000264930.5:c.2843G>T	5.37:g.1060463C>A	ENSP00000264930:p.Arg948Leu			p.R948L	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		21	2886	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		948		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2843G>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948571	0.53186	.	.	ENSG00000113504	ENST00000264930	T	0.46451	0.87	4.22	4.22	0.49857	4.22	4.22	0.49857	.	0.105103	0.64402	D	0.000004	T	0.47322	0.1439	M	0.78223	2.4	0.58432	D	0.999991	B	0.31910	0.346	B	0.33121	0.158	T	0.55451	-0.8139	10	0.54805	T	0.06	.	15.1183	0.72423	0.0:1.0:0.0:0.0	.	948	Q9Y666	S12A7_HUMAN	L	948	ENSP00000264930:R948L	ENSP00000264930:R948L	R	-	2	0	0	SLC12A7	1113463	1113463	0.998000	0.40836	0.818000	0.32626	0.054000	0.15201	6.830000	0.75319	1.911000	0.55334	0.467000	0.42956	CGA		0.562	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2		56.381986	34	34	124	124	NM_006598		20	56.902952	56.902952	31	0.392157	1	0	2.39556e-15	1	2.39556e-15	20	31	0.392157	A	1060463	C	A	1060463	3	1	63	1	0	0	0	0	1	0	0	0	14388	884	31	5	424	5	SLC12A7	5	1060463	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08		1060463	179854797	4	1187											
USP49	25862	broad.mit.edu	37	6	41766669	41766669	+	Splice_Site	SNP	T	T	G			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr6:41766669T>G	ENST00000394253.3	-	6	2000		c.e6-2		USP49_ENST00000373009.3_Splice_Site|USP49_ENST00000373010.1_Splice_Site|USP49_ENST00000373006.1_Splice_Site|USP49_ENST00000297229.2_Splice_Site			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49						histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGACCACCTAGAACATGGA	0.413																																						ENST00000394253.3											1	Unknown(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.e6-2	ubiquitin specific peptidase 49						71	64	67					6																	41766669		2203	4300	6503	SO:0001630	splice_region_variant	25862			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41766669T>G	AJ586139	AJ586139	CCDS4861.1, CCDS69111.1	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663	ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	"Ubiquitin-specific peptidases"	20078	20078	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"ubiquitin specific protease 49"		"ubiquitin specific protease 49"			14715245	14715245	Standard	Standard	NM_018561	NM_018561		Approved	MGC20741	uc003ori.3	uc003ori.3	Q70CQ1	Q70CQ1	OTTHUMG00000014688	OTTHUMG00000014688	ENST00000394253.3:c.1671-2A>C	6.37:g.41766669T>G			USP49_ENST00000373009.3_Splice_Site|USP49_ENST00000373010.1_Splice_Site|USP49_ENST00000297229.2_Splice_Site|USP49_ENST00000373006.1_Splice_Site				Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	2000	-	Ovarian(28;0.0919)|Colorectal(47;0.121)				Q5T3D9|Q5T3E0|Q96CK4	Splice_Site	SNP	ENST00000394253.3	37			.	.	.	.	.	.	.	.	.	.	T	23.5	4.424080	0.83667	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8428	0.78864	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	USP49	41874647	41874647	1.000000	0.71417	0.937000	0.37676	0.986000	0.74619	8.040000	0.89188	2.234000	0.73211	0.533000	0.62120	.		0.413	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3		-8.218775	-8	-8	69	69	NM_018561	Intron	6	7.055018	7.055018	75	0.074074	0	0	0	1	0	6	75	0.074074	G	41766669	T	G	41766669	5	3	63	1	0	0	0	0	0	0	1	0	17077	1536	53	5	257	5	USP49	6	41766669	Splice_Site	SNP	T	TCGA-WC-A87U-01A-11D-A39W-08		41766669	129348398	5	1188											
FKBP9	11328	broad.mit.edu	37	7	33028245	33028245	+	Silent	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:33028245G>A	ENST00000242209.4	+	6	1189	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Silent_p.G202G|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.G393G|FKBP9_ENST00000490776.2_Silent_p.G108G	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	340	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTCACCTGGGGTATGGAGAGG	0.512																																						ENST00000242209.4											0			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(1018-1020)ggG>ggA	FK506 binding protein 9, 63 kDa						114	98	103					7																	33028245		2203	4300	6503	SO:0001819	synonymous_variant	11328			protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33028245G>A	AF089745	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642	ENSG00000122642	ENSG00000122642		"EF-hand domain containing"	"EF-hand domain containing"	3725	3725	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"FK506-binding protein 9 (63 kD)"		"FK506-binding protein 9 (63 kD)"			12036304	12036304	Standard	Standard	NM_007270	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	uc003tdh.3	O95302	O95302	OTTHUMG00000097847	OTTHUMG00000097847	ENST00000242209.4:c.1020G>A	7.37:g.33028245G>A			FKBP9_ENST00000538443.1_Silent_p.G202G|FKBP9_ENST00000538336.1_Silent_p.G393G|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.G108G|FKBP9_ENST00000489038.1_3'UTR	p.G340G	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		6	1189	+			340	PPIase FKBP-type 3.	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	c.1020G>A	CCDS5439.1																																																																																									0.512	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1		36.695379	19	19	50	50	NM_007270		12	36.820022	36.820022	16	0.428571	0	0	0	1	0	12	16	0.428571	A	33028245	G	A	33028245	2	1	63	1	0	0	0	0	0	0	0	1	5915	1248	44	3		3	FKBP9	7	33028245	Silent	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		33028245	126110418	6	1189											
SLC26A5	375611	broad.mit.edu	37	7	103050935	103050935	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:103050935C>T	ENST00000306312.3	-	7	893	c.632G>A	c.(631-633)cGt>cAt	p.R211H	SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211H|SLC26A5_ENST00000354356.4_De_novo_Start_OutOfFrame	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	211					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGTAAACCCACGGACCAGAGG	0.413																																						ENST00000354356.4											0			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43							solute carrier family 26 (anion exchanger), member 5						70	69	69					7																	103050935		2203	4300	6503	SO:0001583	missense	375611			regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103050935C>T	AC005064	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615	ENSG00000170615	ENSG00000170615		"Solute carriers"	"Solute carriers"	9359	9359	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"deafness, neurosensory, autosomal recessive, 61"	"deafness, neurosensory, autosomal recessive, 61"	604943	604943	"prestin (motor protein)"	PRES	"prestin (motor protein)"	PRES		10821263	10821263	Standard	Standard	NM_206883	NM_206883		Approved	DFNB61	uc003vbz.3	uc003vbz.3	P58743	P58743	OTTHUMG00000149911	OTTHUMG00000149911	ENST00000306312.3:c.632G>A	7.37:g.103050935C>T	ENSP00000304783:p.Arg211His		SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211H|SLC26A5_ENST00000306312.3_Missense_Mutation_p.R211H				P58743	S26A5_HUMAN			0	798	-					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Translation_Start_Site	SNP	ENST00000306312.3	37		CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553733	0.86231	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.72	5.72	0.89469	5.72	5.72	0.89469	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.78637	2.42	0.80722	D	1	P;D;P;D;D	0.76494	0.909;0.999;0.733;0.996;0.997	P;D;P;P;P	0.66497	0.634;0.944;0.501;0.839;0.907	D	0.95899	0.8913	10	0.72032	D	0.01	.	19.885	0.96909	0.0:1.0:0.0:0.0	.	211;211;211;211;211	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	H	211;211;211;211;211;211;174;211;211	ENSP00000342396:R211H;ENSP00000349210:R211H;ENSP00000377336:R211H;ENSP00000304783:R211H;ENSP00000377331:R211H;ENSP00000389733:R211H;ENSP00000377330:R174H;ENSP00000377328:R211H;ENSP00000377324:R211H	ENSP00000304783:R211H	R	-	2	0	0	SLC26A5	102838171	102838171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.667000	0.68067	2.708000	0.92522	0.591000	0.81541	CGT		0.413	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1		35.525122	25	25	64	64	NM_198999		11	35.53447	35.53447	12	0.478261	0	0	0	1	0	11	12	0.478261	T	103050935	C	T	103050935	3	4	63	1	0	0	0	0	1	0	0	0	14520	536	19	1	1699	1	SLC26A5	7	103050935	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	70022690	103050935	56087728	7	1190											
PPP1R3A	5506	broad.mit.edu	37	7	113519490	113519490	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:113519490C>T	ENST00000284601.3	-	4	1725	c.1657G>A	c.(1657-1659)Gca>Aca	p.A553T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	553					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						CCAATCCCTGCCACACTTATT	0.418																																						ENST00000284601.3											0			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						c.(1657-1659)Gca>Aca	protein phosphatase 1, regulatory subunit 3A						103	96	98					7																	113519490		2203	4300	6503	SO:0001583	missense	5506			glycogen metabolic process	integral to membrane		g.chr7:113519490C>T	AF024578	AF024578	CCDS5759.1	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	9291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	7926294	Standard	Standard	NM_002711	NM_002711		Approved	GM	uc010ljy.1	uc010ljy.1	Q16821	Q16821	OTTHUMG00000156944	OTTHUMG00000156944	ENST00000284601.3:c.1657G>A	7.37:g.113519490C>T	ENSP00000284601:p.Ala553Thr			p.A553T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1725	-			553		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1657G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994753	0.35226	.	.	ENSG00000154415	ENST00000284601	T	0.16597	2.33	5.72	3.89	0.44902	5.72	3.89	0.44902	.	0.804958	0.11529	N	0.554903	T	0.09379	0.0231	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.21724	-1.0237	10	0.36615	T	0.2	-0.4916	4.5998	0.12348	0.167:0.5848:0.0:0.2482	.	553	Q16821	PPR3A_HUMAN	T	553	ENSP00000284601:A553T	ENSP00000284601:A553T	A	-	1	0	0	PPP1R3A	113306726	113306726	0.000000	0.05858	0.029000	0.17559	0.019000	0.09904	0.631000	0.24568	1.554000	0.49487	0.655000	0.94253	GCA		0.418	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1		53.534194	78	78	143	143	NM_002711		18	54.620908	54.620908	34	0.346154	0	0	0	1	0	18	34	0.346154	T	113519490	C	T	113519490	3	4	63	1	0	0	0	0	1	0	0	0	12371	739	26	2	1715	2	PPP1R3A	7	113519490	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	10468555	113519490	45619173	8	1191											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		117.132570	38	38	150	150	NM_002072		35	117.233656	117.233656	41	0.460526	0	0	0	1	0	35	41	0.460526	G	80409488	T	G	80409488	3	3	63	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-A87U-01A-11D-A39W-08		80409488	60803943	9	1192											
SLC2A8	29988	broad.mit.edu	37	9	130169508	130169508	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:130169508G>A	ENST00000373371.3	+	10	1503	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	SLC2A8_ENST00000373360.3_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A209T	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	472					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACAAATCACAGCCCATTTTGA	0.557																																						ENST00000373371.3											0			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1414-1416)Gcc>Acc	solute carrier family 2 (facilitated glucose transporter), member 8						75	72	73					9																	130169508		2203	4300	6503	SO:0001583	missense	29988				cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130169508G>A	AJ245937	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856	ENSG00000136856	ENSG00000136856		"Solute carriers"	"Solute carriers"	13812	13812	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605245	605245	"solute carrier family 2 (facilitated glucose transporter) member 8"		"solute carrier family 2 (facilitated glucose transporter) member 8"			10671487, 10821868	10671487, 10821868	Standard	Standard	NM_014580	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	uc004bqu.4	Q9NY64	Q9NY64	OTTHUMG00000020702	OTTHUMG00000020702	ENST00000373371.3:c.1414G>A	9.37:g.130169508G>A	ENSP00000362469:p.Ala472Thr		SLC2A8_ENST00000373360.3_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A209T	p.A472T	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			10	1503	+			472		Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	c.1414G>A	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085018	0.76642	.	.	ENSG00000136856	ENST00000373371;ENST00000373352	T;T	0.74106	-0.81;-0.81	5.24	4.34	0.51931	5.24	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74714	-0.3572	10	0.14656	T	0.56	.	12.1113	0.53840	0.0861:0.0:0.9139:0.0	.	472	Q9NY64	GTR8_HUMAN	T	472;209	ENSP00000362469:A472T;ENSP00000362450:A209T	ENSP00000362450:A209T	A	+	1	0	0	SLC2A8	129209329	129209329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.167000	0.94773	2.445000	0.82738	0.655000	0.94253	GCC		0.557	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1		73.395407	5	5	108	108	NM_014580		24	73.433822	73.433822	27	0.470588	0	0	0	1	0	24	27	0.470588	A	130169508	G	A	130169508	3	1	63	1	0	0	0	0	1	0	0	0	14551	971	34	2	1452	2	SLC2A8	9	130169508	Missense_Mutation	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08	49760020	130169508	11043923	10	1193											
SETX	23064	broad.mit.edu	37	9	135163946	135163946	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:135163946G>A	ENST00000224140.5	-	16	6381	c.6199C>T	c.(6199-6201)Cac>Tac	p.H2067Y	SETX_ENST00000393220.1_Missense_Mutation_p.H2067Y|SETX_ENST00000372169.2_Missense_Mutation_p.H2067Y	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2067					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTCATTCTGTGGTTTACTTGG	0.373																																						ENST00000372169.2											0			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6199-6201)Cac>Tac	senataxin						121	118	119					9																	135163946		2202	4300	6502	SO:0001583	missense	23064			cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135163946G>A	AB014525	AB014525	CCDS6947.1	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290	ENSG00000107290	ENSG00000107290				445	445	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608465	608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	9497266, 11022012	Standard	Standard	NM_015046	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	uc004cbk.3	Q7Z333	Q7Z333	OTTHUMG00000020834	OTTHUMG00000020834	ENST00000224140.5:c.6199C>T	9.37:g.135163946G>A	ENSP00000224140:p.His2067Tyr		SETX_ENST00000224140.5_Missense_Mutation_p.H2067Y|SETX_ENST00000393220.1_Missense_Mutation_p.H2067Y	p.H2067Y			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	16	6381	-		Myeloproliferative disorder(178;0.204)	2067		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6199C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156871	0.78114	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.35	4.44	0.53790	5.35	4.44	0.53790	.	0.000000	0.64402	D	0.000001	D	0.89086	0.6615	M	0.65975	2.015	0.37277	D	0.907687	D;D;D	0.89917	0.957;1.0;0.999	D;D;D	0.87578	0.966;0.998;0.994	D	0.90900	0.4768	10	0.72032	D	0.01	.	12.5512	0.56227	0.0816:0.0:0.9184:0.0	.	2067;2067;2067	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Y	2067;309;2067;2067	ENSP00000224140:H2067Y;ENSP00000409143:H309Y;ENSP00000361242:H2067Y;ENSP00000376913:H2067Y	ENSP00000224140:H2067Y	H	-	1	0	0	SETX	134153767	134153767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.193000	0.50997	2.671000	0.90904	0.650000	0.86243	CAC		0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3		55.651606	40	40	111	111	NM_015046		18	55.826979	55.826979	13	0.580645	0	0	0	1	0	18	13	0.580645	A	135163946	G	A	135163946	3	1	63	1	0	0	0	0	1	0	0	0	14141	1348	47	3	1878	3	SETX	9	135163946	Missense_Mutation	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08	4994438	135163946	6049485	11	1194											
E2F7	144455	ucsc.edu	37	12	77419664	77419664	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr12:77419664C>A	ENST00000322886.7	-	12	2474	c.2239G>T	c.(2239-2241)Gtc>Ttc	p.V747F	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	747					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GATGGTAAGACCATGCAAGGG	0.527																																																	0																	43	48	46					12																	77419664		2203	4300	6503	SO:0001583	missense	144455							BC016658	BC016658	CCDS9016.1	CCDS9016.1	12q21.1	2008-02-05			2008-02-05				ENSG00000165891		ENSG00000165891				23820	23820	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612046	612046						12893818	12893818	Standard	Standard	NM_203394	NM_203394		Approved		uc001sym.4	uc001sym.4	Q96AV8	Q96AV8	OTTHUMG00000169969	OTTHUMG00000169969	ENST00000322886.7:c.2239G>T	12.37:g.77419664C>A	ENSP00000323246:p.Val747Phe																	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37		CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645496	0.14451	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	T	0.16597	2.33	5.92	4.07	0.47477	5.92	4.07	0.47477	.	0.354113	0.29745	N	0.011308	T	0.11623	0.0283	L	0.33485	1.01	0.80722	D	1	B	0.24533	0.105	B	0.20384	0.029	T	0.11916	-1.0568	10	0.45353	T	0.12	-12.8649	5.1359	0.14934	0.1727:0.6522:0.0:0.1751	.	747	Q96AV8	E2F7_HUMAN	F	747;234	ENSP00000323246:V747F	ENSP00000323246:V747F	V	-	1	0	0	E2F7	75943795	75943795	0.997000	0.39634	0.992000	0.48379	0.079000	0.17450	0.434000	0.21494	0.810000	0.34279	-0.136000	0.14681	GTC		0.527	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1			19	19	55	55	XM_084871		4			15							4	15		A	77419664	C	A	77419664	3	1	63	1	0	0	0	0	1	0	0	0	4872	507	18	5	504	5	E2F7	12	77419664	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08		77419664	56432231	12	1195											
PLD2	5338	broad.mit.edu	37	17	4722777	4722777	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:4722777G>A	ENST00000263088.6	+	23	2493	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	PLD2_ENST00000572940.1_Missense_Mutation_p.A788T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	788	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CAGTGAGCTGGCCGTGCTGAT	0.607																																						ENST00000263088.6											0			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2362-2364)Gcc>Acc	phospholipase D2						100	74	83					17																	4722777		2203	4300	6503	SO:0001583	missense	5338			cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4722777G>A	AF035483	AF035483	CCDS11057.1, CCDS58507.1	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			2008-04-14			ENSG00000129219	ENSG00000129219	ENSG00000129219	ENSG00000129219	3.1.4.4			9068	9068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"choline phosphatase 2"	"choline phosphatase 2"	602384	602384						9858823, 9582313	9858823, 9582313	Standard	Standard	NM_002663	NM_002663		Approved		uc002fzc.3	uc002fzc.3	O14939	O14939	OTTHUMG00000090779	OTTHUMG00000090779	ENST00000263088.6:c.2362G>A	17.37:g.4722777G>A	ENSP00000263088:p.Ala788Thr		PLD2_ENST00000572940.1_Missense_Mutation_p.A788T	p.A788T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			23	2493	+			788	Catalytic.	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.2362G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336125	0.95758	.	.	ENSG00000129219	ENST00000263088	T	0.23552	1.9	4.41	4.41	0.53225	4.41	4.41	0.53225	.	0.060781	0.64402	D	0.000004	T	0.58764	0.2145	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69289	-0.5184	10	0.72032	D	0.01	-7.6039	14.5126	0.67797	0.0:0.0:1.0:0.0	.	788;788	O14939-2;O14939	.;PLD2_HUMAN	T	788	ENSP00000263088:A788T	ENSP00000263088:A788T	A	+	1	0	0	PLD2	4669743	4669743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.147000	0.94646	2.294000	0.77228	0.563000	0.77884	GCC		0.607	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3		22.126358	-6	-6	30	30	NM_002663		7	22.198981	22.198981	5	0.583333	0	0	0	1	0	7	5	0.583333	A	4722777	G	A	4722777	3	1	63	1	0	0	0	0	1	0	0	0	12046	1203	42	2	2448	2	PLD2	17	4722777	Missense_Mutation	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		4722777	76472433	13	1196											
DHRS7B	25979	broad.mit.edu	37	17	21092103	21092103	+	Silent	SNP	C	C	T	rs577733383		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:21092103C>T	ENST00000395511.3	+	6	1019	c.699C>T	c.(697-699)acC>acT	p.T233T	DHRS7B_ENST00000579303.1_Silent_p.T218T|DHRS7B_ENST00000581463.1_Silent_p.T53T	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	233						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TTGAGGTGACCGTCATCAGCC	0.537																																						ENST00000395511.3											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.(697-699)acC>acT	dehydrogenase/reductase (SDR family) member 7B						133	109	117					17																	21092103		2203	4300	6503	SO:0001819	synonymous_variant	25979				integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21092103C>T	BC004126	BC004126	CCDS11215.1	CCDS11215.1	17p12	2011-09-20			2011-09-20				ENSG00000109016		ENSG00000109016		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	24547	24547	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 1"	"short chain dehydrogenase/reductase family 32C, member 1"								10810093, 11230166, 19027726	10810093, 11230166, 19027726	Standard	Standard	NM_015510	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	uc002gyo.3	Q6IAN0	Q6IAN0			ENST00000395511.3:c.699C>T	17.37:g.21092103C>T			DHRS7B_ENST00000579303.1_Silent_p.T218T|DHRS7B_ENST00000581463.1_Silent_p.T53T	p.T233T	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			6	1019	+			233		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Silent	SNP	ENST00000395511.3	37	c.699C>T	CCDS11215.1																																																																																									0.537	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3		98.917696	28	28	138	138	NM_015510		31	99.165742	99.165742	40	0.43662	0	0	0	1	0	31	40	0.43662	T	21092103	C	T	21092103	2	4	63	1	0	0	0	0	0	0	0	1	4496	639	23	1		1	DHRS7B	17	21092103	Silent	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	16369326	21092103	60103107	14	1197											
CCDC45	90799	broad.mit.edu	37	17	62530713	62530713	+	Missense_Mutation	SNP	A	A	C	rs185494775		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:62530713A>C	ENST00000556440.2	+	17	2438	c.1928A>C	c.(1927-1929)aAg>aCg	p.K643T	CEP95_ENST00000553412.1_Missense_Mutation_p.K479T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	643						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CAAGACTTCAAGGACTGCATT	0.438																																						ENST00000556440.2											0			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(1927-1929)aAg>aCg	centrosomal protein 95kDa						74	73	74					17																	62530713		1935	4143	6078	SO:0001583	missense	90799				centrosome|spindle pole	protein binding	g.chr17:62530713A>C	AL832822	AL832822	CCDS45763.1	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890	ENSG00000258890	ENSG00000258890				25141	25141	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"coiled-coil domain containing 45"	CCDC45	"coiled-coil domain containing 45"	CCDC45		21399614	21399614	Standard	Standard	NM_138363	NM_138363		Approved	DKFZp667E1824	uc002jem.3	uc002jem.3	Q96GE4	Q96GE4	OTTHUMG00000179174	OTTHUMG00000179174	ENST00000556440.2:c.1928A>C	17.37:g.62530713A>C	ENSP00000450461:p.Lys643Thr		CEP95_ENST00000553412.1_Missense_Mutation_p.K479T	p.K643T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			17	2438	+			643		B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	c.1928A>C	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303703	0.60305	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.45276	0.97;0.9	5.75	4.65	0.58169	5.75	4.65	0.58169	.	0.194559	0.53938	D	0.000058	T	0.49287	0.1548	M	0.62723	1.935	0.34727	D	0.729379	D;D	0.55800	0.973;0.973	P;P	0.51657	0.559;0.676	T	0.64723	-0.6340	10	0.72032	D	0.01	-10.2392	9.4469	0.38703	0.8611:0.0:0.1389:0.0	.	643;643	A8K3H2;Q96GE4	.;CEP95_HUMAN	T	578;643;479	ENSP00000450461:K643T;ENSP00000450906:K479T	ENSP00000438458:K578T	K	+	2	0	0	CEP95	59961175	59961175	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	1.783000	0.38664	1.057000	0.40506	0.528000	0.53228	AAG		0.438	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2		23.393320	11	11	63	63	NM_138363		8	23.863304	23.863304	15	0.347826	0	0	0	1	0	8	15	0.347826	C	62530713	A	C	62530713	3	2	63	1	0	0	0	0	1	0	0	0	2816	72	3	5	1994	5	CCDC45	17	62530713	Missense_Mutation	SNP	A	TCGA-WC-A87U-01A-11D-A39W-08	41438610	62530713	18664497	15	1198											
ASXL3	80816	broad.mit.edu	37	18	31323330	31323330	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr18:31323330C>T	ENST00000269197.5	+	12	3518	c.3518C>T	c.(3517-3519)gCc>gTc	p.A1173V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1173					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						AACAAGTCTGCCCACCTCCGG	0.443																																						ENST00000269197.5											0			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(3517-3519)gCc>gTc	additional sex combs like 3 (Drosophila)						46	45	45					18																	31323330		1921	4137	6058	SO:0001583	missense	80816			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323330C>T	AB051500	AB051500	CCDS45847.1	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431		ENSG00000141431				29357	29357	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615115	615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	11214970	Standard	Standard	NM_030632	NM_030632		Approved		uc010dmg.1	uc010dmg.1	Q9C0F0	Q9C0F0			ENST00000269197.5:c.3518C>T	18.37:g.31323330C>T	ENSP00000269197:p.Ala1173Val			p.A1173V	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	3518	+			1173		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3518C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109348	0.20714	.	.	ENSG00000141431	ENST00000269197	T	0.51574	0.7	5.38	1.57	0.23409	5.38	1.57	0.23409	.	2.345140	0.01510	N	0.017865	T	0.35711	0.0941	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30937	-0.9961	10	0.41790	T	0.15	.	10.9295	0.47209	0.0:0.7583:0.0:0.2417	.	1173	Q9C0F0	ASXL3_HUMAN	V	1173	ENSP00000269197:A1173V	ENSP00000269197:A1173V	A	+	2	0	0	ASXL3	29577328	29577328	0.042000	0.20092	0.025000	0.17156	0.938000	0.57974	0.819000	0.27308	0.406000	0.25560	0.655000	0.94253	GCC		0.443	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		27.672531	25	25	52	52			9	27.716102	27.716102	11	0.45	0	0	0	1	0	9	11	0.45	T	31323330	C	T	31323330	3	4	63	1	0	0	0	0	1	0	0	0	1068	739	26	2	3564	2	ASXL3	18	31323330	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08		31323330	46753918	16	1199											
ARSD	414	broad.mit.edu	37	X	2825571	2825571	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chrX:2825571A>G	ENST00000381154.1	-	10	1598	c.1523T>C	c.(1522-1524)gTg>gCg	p.V508A	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	508					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGATGGGTCACGCCCTCCCC	0.677																																						ENST00000381154.1											0			large_intestine(3)|lung(3)	6						c.(1522-1524)gTg>gCg	arylsulfatase D						18	19	19					X																	2825571		2191	4288	6479	SO:0001583	missense	414				lysosome	arylsulfatase activity|metal ion binding	g.chrX:2825571A>G	X83572	X83572	CCDS35196.1	CCDS35196.1	Xp22.3	2013-02-14			2013-02-14			ENSG00000006756	ENSG00000006756	ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	"Arylsulfatase family"	717	717	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300002	300002						7720070	7720070	Standard	Standard	NM_001669	NM_001669		Approved		uc004cqy.3	uc004cqy.3	P51689	P51689	OTTHUMG00000021077	OTTHUMG00000021077	ENST00000381154.1:c.1523T>C	X.37:g.2825571A>G	ENSP00000370546:p.Val508Ala			p.V508A	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			10	1598	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	508		Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1523T>C	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	a	14.07	2.426690	0.43020	.	.	ENSG00000006756	ENST00000381154;ENST00000458014	D;D	0.94092	-3.35;-3.35	3.03	3.03	0.35002	3.03	3.03	0.35002	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000003	D	0.96024	0.8705	M	0.83012	2.62	0.47819	D	0.999526	D	0.76494	0.999	D	0.70016	0.967	D	0.95553	0.8622	10	0.66056	D	0.02	.	10.7922	0.46440	1.0:0.0:0.0:0.0	.	508	P51689	ARSD_HUMAN	A	508;110	ENSP00000370546:V508A;ENSP00000409180:V110A	ENSP00000370546:V508A	V	-	2	0	0	ARSD	2835571	2835571	0.999000	0.42202	0.015000	0.15790	0.007000	0.05969	7.544000	0.82117	0.951000	0.37770	0.424000	0.28305	GTG		0.677	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1		6.349936	-4	-4	10	10			2	6.349936	6.349936	2	0.5	0	0	0	1	0	2	2	0.5	G	2825571	A	G	2825571	3	3	63	1	0	0	0	0	1	0	0	0	989	159	6	4	262	4	ARSD	23	2825571	Missense_Mutation	SNP	A	TCGA-WC-A87U-01A-11D-A39W-08		2825571	152444989	17	1200											
EIF1AX	1964	broad.mit.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(43-45)gGt>gAt	eukaryotic translation initiation factor 1A, X-linked						164	152	156					X																	20156713		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156713C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.44G>A	X.37:g.20156713C>T	ENSP00000368927:p.Gly15Asp		EIF1AX_ENST00000379593.1_Intron	p.G15D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	247	-			15		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.44G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551056	0.65311	.	.	ENSG00000173674	ENST00000379607	T	0.45276	0.9	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.75953	0.3920	H	0.96175	3.78	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.85102	0.0958	9	0.87932	D	0	-6.0481	17.661	0.88193	0.0:1.0:0.0:0.0	.	15	P47813	IF1AX_HUMAN	D	15	ENSP00000368927:G15D	ENSP00000368927:G15D	G	-	2	0	0	EIF1AX	20066634	20066634	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		45.422944	-69	-69	119	119			12	45.422699	45.422699	0	1	0	0	0	1	0	12	0	1	T	20156713	C	T	20156713	3	4	63	1	0	0	0	0	1	0	0	0	4992	507	18	3	414	3	EIF1AX	23	20156713	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	17331142	20156713	135113847	18	1201											
FAM5C	339479	broad.mit.edu	37	1	190067401	190067401	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr1:190067401A>G	ENST00000367462.3	-	8	2279	c.2048T>C	c.(2047-2049)cTg>cCg	p.L683P	BRINP3_ENST00000534846.1_Missense_Mutation_p.L581P	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	683					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CTGCAAAATCAGGTCCCGAAT	0.458																																						ENST00000367462.3											0										c.(2047-2049)cTg>cCg	bone morphogenetic protein/retinoic acid inducible neural-specific 3						109	108	109					1																	190067401		2203	4300	6503	SO:0001583	missense	339479						g.chr1:190067401A>G	AB111893	AB111893	CCDS1373.1	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670	ENSG00000162670	ENSG00000162670				22393	22393	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"family with sequence similarity 5, member C"	FAM5C	"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	16018821, 15193423	Standard	Standard	NM_199051	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	uc001gse.1	Q76B58	Q76B58	OTTHUMG00000035533	OTTHUMG00000035533	ENST00000367462.3:c.2048T>C	1.37:g.190067401A>G	ENSP00000356432:p.Leu683Pro		BRINP3_ENST00000534846.1_Missense_Mutation_p.L581P	p.L683P	NM_199051.1	NP_950252.1					8	2279	-			683		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2048T>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521122	0.44866	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21734	2.24;1.99	5.62	4.48	0.54585	5.62	4.48	0.54585	.	0.082989	0.49916	D	0.000129	T	0.29321	0.0730	M	0.70275	2.135	0.80722	D	1	P;P	0.41848	0.763;0.651	P;B	0.44359	0.447;0.174	T	0.02721	-1.1119	10	0.49607	T	0.09	.	10.9682	0.47424	0.8428:0.1572:0.0:0.0	.	581;683	B7Z260;Q76B58	.;FAM5C_HUMAN	P	683;581	ENSP00000356432:L683P;ENSP00000438022:L581P	ENSP00000356432:L683P	L	-	2	0	0	FAM5C	188334024	188334024	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.237000	0.95368	0.932000	0.37266	0.528000	0.53228	CTG		0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1		-8.765922	-5	-5	93	93	NM_199051		4	7.044462	7.044462	71	0.053333	0	0	0	1	0	4	71	0.053333	G	190067401	A	G	190067401	3	3	64	1	0	0	0	0	1	0	0	0	5594	188	7	4	256	4	FAM5C	1	190067401	Missense_Mutation	SNP	A	TCGA-WC-A87W-01A-11D-A39W-08		190067401	59183220	1	1202											
SCN11A	11280	broad.mit.edu	37	3	38938527	38938527	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:38938527G>T	ENST00000302328.3	-	14	2410	c.2212C>A	c.(2212-2214)Ccg>Acg	p.P738T	SCN11A_ENST00000456224.3_Missense_Mutation_p.P738T|SCN11A_ENST00000450244.1_Missense_Mutation_p.P738T|SCN11A_ENST00000444237.2_Missense_Mutation_p.P738T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	738					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCCTGTCGGGTTACAGAGT	0.502																																						ENST00000450244.1											0			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2212-2214)Ccg>Acg	sodium channel, voltage-gated, type XI, alpha subunit						101	92	95					3																	38938527		2203	4300	6503	SO:0001583	missense	11280			response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938527G>T	AF126739	AF126739	CCDS33737.1	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356	ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	10583	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604385	604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	10444332, 16382098	Standard	Standard	NM_014139	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	uc021wvy.1	Q9UI33	Q9UI33	OTTHUMG00000048246	OTTHUMG00000048246	ENST00000302328.3:c.2212C>A	3.37:g.38938527G>T	ENSP00000307599:p.Pro738Thr		SCN11A_ENST00000456224.3_Missense_Mutation_p.P738T|SCN11A_ENST00000444237.2_Missense_Mutation_p.P738T|SCN11A_ENST00000302328.3_Missense_Mutation_p.P738T	p.P738T			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2410	-			738		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2212C>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	0.972	-0.699833	0.03279	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96136	-3.92;-3.92;-3.87;-3.74	0.225	0.225	0.15325	0.225	0.225	0.15325	Ion transport (1);	17.326200	0.00166	N	0.000001	D	0.95169	0.8434	M	0.86178	2.8	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.80167	-0.1495	10	0.56958	D	0.05	.	5.9124	0.19035	1.0E-4:0.0:0.9999:0.0	.	738	Q9UI33	SCNBA_HUMAN	T	738	ENSP00000307599:P738T;ENSP00000400945:P738T;ENSP00000416757:P738T;ENSP00000408028:P738T	ENSP00000307599:P738T	P	-	1	0	0	SCN11A	38913531	38913531	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-4.182000	0.00278	0.300000	0.22699	0.305000	0.20034	CCG		0.502	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		48.057952	3	3	48	48	NM_014139		17	48.95908	48.95908	31	0.354167	1	0	2.4624e-09	1	2.4624e-09	17	31	0.354167	T	38938527	G	T	38938527	3	4	64	1	0	0	0	0	1	0	0	0	13913	1232	43	5	3215	5	SCN11A	3	38938527	Missense_Mutation	SNP	G	TCGA-WC-A87W-01A-11D-A39W-08		38938527	159083903	2	1203											
NBEAL2	23218	broad.mit.edu	37	3	47033435	47033435	+	Splice_Site	SNP	A	A	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:47033435A>T	ENST00000450053.3	+	9	1210	c.1031A>T	c.(1030-1032)aAg>aTg	p.K344M	NBEAL2_ENST00000292309.5_Splice_Site_p.K344M|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	344					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGAACAGCAAGGTGGGTAGG	0.592																																						ENST00000450053.3											0			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1030-1032)aAg>aTg	neurobeachin-like 2						42	40	40					3																	47033435		2052	4202	6254	SO:0001630	splice_region_variant	23218					binding	g.chr3:47033435A>T	AB011112	AB011112	CCDS46817.1	CCDS46817.1	3p21.31	2014-09-17			2014-09-17			ENSG00000160796	ENSG00000160796	ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	"WD repeat domain containing"	31928	31928	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614169	614169								Standard	Standard	NM_015175	NM_015175		Approved	KIAA0540	uc003cqp.3	uc003cqp.3	Q6ZNJ1	Q6ZNJ1	OTTHUMG00000156497	OTTHUMG00000156497	ENST00000450053.3:c.1032+1A>T	3.37:g.47033435A>T			NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.K344M	p.K344M	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	9	1210	+		Acute lymphoblastic leukemia(5;0.0534)	344		O60288|Q6P994|Q6UX91|Q8NAC9	Splice_Site	SNP	ENST00000450053.3	37	c.1031A>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506466	0.85282	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.61980	0.06;0.06	4.13	4.13	0.48395	4.13	4.13	0.48395	Armadillo-type fold (1);	.	.	.	.	T	0.74816	0.3766	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.69479	0.964;0.733	T	0.78135	-0.2322	9	0.87932	D	0	.	12.4731	0.55797	1.0:0.0:0.0:0.0	.	337;344	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	M	344;344;337	ENSP00000292309:K344M;ENSP00000415034:K344M	ENSP00000292309:K344M	K	+	2	0	0	NBEAL2	47008439	47008439	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.894000	0.75655	1.723000	0.51488	0.379000	0.24179	AAG		0.592	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3		12.499512	-7	-7	13	13	XM_291064	Missense_Mutation	4	12.499512	12.499512	4	0.5	0	0	0	1	0	4	4	0.5	T	47033435	A	T	47033435	5	4	64	1	0	0	0	0	0	0	1	0	10189	86	3	5	1065	5	NBEAL2	3	47033435	Splice_Site	SNP	A	TCGA-WC-A87W-01A-11D-A39W-08	8094908	47033435	150988995	3	1204											
PTPRG	5793	broad.mit.edu	37	3	61548042	61548054	+	Splice_Site	DEL	CCCCGGTGAGTGC	CCCCGGTGAGTGC	-	rs201903648|rs2365955	byFrequency	TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:61548042_61548054delCCCCGGTGAGTGC	ENST00000474889.1	+	1	458_462	c.81_85delCCCCGGTGAGTGC	c.(79-87)ttccccggt>ttgt	p.FPG27fs	PTPRG_ENST00000495879.1_3'UTR|PTPRG_ENST00000295874.10_Splice_Site_p.FPG27fs	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	27					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCGTGTGCTTCCCCGGTGAGTGCCGGCCGCCGA	0.648																																						ENST00000474889.1											1	Unknown(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(79-87)ttccccggt>ttgt	protein tyrosine phosphatase, receptor type, G																																			SO:0001630	splice_region_variant	5793			transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61548042_61548054delCCCCGGTGAGTGC	L09247	L09247	CCDS2895.1	CCDS2895.1	3p21-p14	2013-02-11			2013-02-11			ENSG00000144724	ENSG00000144724	ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	9671	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176886	176886		PTPG		PTPG		1711217	1711217	Standard	Standard	NM_002841	NM_002841		Approved	RPTPG	uc003dlb.3	uc003dlb.3	P23470	P23470	OTTHUMG00000158660	OTTHUMG00000158660	ENST00000474889.1:c.85+1CCCCGGTGAGTGC>-	3.37:g.61548042_61548054delCCCCGGTGAGTGC			PTPRG_ENST00000295874.10_Splice_Site_p.FPG27fs|PTPRG_ENST00000495879.1_3'UTR	p.FPG27fs	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	1	458_462	+			27		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Splice_Site	DEL	ENST00000474889.1	37	c.81_85delCCCCGGTGAGTGC	CCDS2895.1																																																																																									0.648	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	.	.	-14	-14	179	179	NM_002841	Frame_Shift_Del	11			144	0.07						11	144	0.07	-	61548054	CCCCGGTGAGTGC	-	61548042	8	5	64	1	0	1	0	1	0	0	1	0	12802	854	30	0	83	0	PTPRG	3	61548042	Splice_Site	DEL	CCCCGGTGAGTGC	TCGA-WC-A87W-01A-11D-A39W-08	14514607	61548042	136474388	4	1205											
IGSF11	152404	broad.mit.edu	37	3	118824025	118824025	+	Silent	SNP	T	T	C			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr3:118824025T>C	ENST00000425327.2	-	2	283	c.15A>G	c.(13-15)gaA>gaG	p.E5E	IGSF11_ENST00000441144.2_Silent_p.E5E|IGSF11_ENST00000354673.2_Silent_p.E5E			Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	10					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGAGCAAAAGTTCCACCAGAG	0.358																																						ENST00000354673.2											0			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(13-15)gaA>gaG	immunoglobulin superfamily, member 11						110	106	107					3																	118824025		2203	4300	6503	SO:0001819	synonymous_variant	152404			cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118824025T>C	AB079879	AB079879	CCDS2983.1, CCDS46891.1	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			2013-01-11			ENSG00000144847	ENSG00000144847	ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	"Immunoglobulin superfamily / I-set domain containing"	16669	16669	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	"cancer/testis antigen 119"	608351	608351						12207903	12207903	Standard	Standard	XM_006713516	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	uc003ebw.3	Q5DX21	Q5DX21	OTTHUMG00000159387	OTTHUMG00000159387	ENST00000425327.2:c.15A>G	3.37:g.118824025T>C			IGSF11_ENST00000441144.2_Silent_p.E5E|IGSF11_ENST00000425327.2_Silent_p.E5E	p.E5E	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			3	395	-			0		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000425327.2	37	c.15A>G	CCDS2983.1																																																																																									0.358	IGSF11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355074.2		38.996391	-21	-21	36	36			12	39.029962	39.029962	14	0.461538	0	0	0	1	0	12	14	0.461538	C	118824025	T	C	118824025	2	2	64	1	0	0	0	0	0	0	0	1	7598	1722	60	4		4	IGSF11	3	118824025	Silent	SNP	T	TCGA-WC-A87W-01A-11D-A39W-08	57275983	118824025	79198405	5	1206											
KIAA1549	57670	broad.mit.edu	37	7	138552831	138552831	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr7:138552831C>T	ENST00000422774.1	-	15	4867	c.4819G>A	c.(4819-4821)Gtc>Atc	p.V1607I	KIAA1549_ENST00000242365.4_Missense_Mutation_p.V1557I|KIAA1549_ENST00000440172.1_Missense_Mutation_p.V1607I			Q9HCM3	K1549_HUMAN	KIAA1549	1607						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCCGTTGACCTGGTGTTTC	0.552			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1		Dom	yes		7	7q34	57670	KIAA1549		O	0			large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(4819-4821)Gtc>Atc	KIAA1549						50	58	56					7																	138552831		2057	4191	6248	SO:0001583	missense	57670				integral to membrane		g.chr7:138552831C>T			CCDS47723.1, CCDS47723.2, CCDS56513.1	CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			2009-10-09			ENSG00000122778	ENSG00000122778	ENSG00000122778	ENSG00000122778				22219	22219	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613344	613344								Standard	Standard	NM_020910	NM_020910		Approved		uc011kql.2	uc011kql.2	Q9HCM3	Q9HCM3	OTTHUMG00000157214	OTTHUMG00000157214	ENST00000422774.1:c.4819G>A	7.37:g.138552831C>T	ENSP00000416040:p.Val1607Ile		KIAA1549_ENST00000242365.4_Missense_Mutation_p.V1557I|KIAA1549_ENST00000422774.1_Missense_Mutation_p.V1607I	p.V1607I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			15	4867	-			1607		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.4819G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	6.767	0.510352	0.12883	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.21734	1.99;2.0;2.0	4.53	3.64	0.41730	4.53	3.64	0.41730	.	0.324362	0.32655	N	0.005815	T	0.04497	0.0123	N	0.00707	-1.245	0.26509	N	0.974629	B;B;B;B	0.29552	0.248;0.0;0.208;0.0	B;B;B;B	0.25884	0.064;0.001;0.038;0.001	T	0.37798	-0.9690	10	0.06625	T	0.88	.	8.2926	0.31967	0.0:0.8437:0.0:0.1563	.	1607;391;1607;391	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	I	1607;1557;1607	ENSP00000406661:V1607I;ENSP00000242365:V1557I;ENSP00000416040:V1607I	ENSP00000242365:V1557I	V	-	1	0	0	KIAA1549	138203371	138203371	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.542000	0.36137	2.493000	0.84123	0.655000	0.94253	GTC		0.552	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		23.193056	-11	-11	32	32			8	23.782943	23.782943	16	0.333333	0	0	0	1	0	8	16	0.333333	T	138552831	C	T	138552831	3	4	64	1	0	0	0	0	1	0	0	0	8244	507	18	3	1057	3	KIAA1549	7	138552831	Missense_Mutation	SNP	C	TCGA-WC-A87W-01A-11D-A39W-08		138552831	20585832	6	1207											
ITGA8	8516	broad.mit.edu	37	10	15701035	15701035	+	Missense_Mutation	SNP	G	G	A	rs148965352		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr10:15701035G>A	ENST00000378076.3	-	10	1264	c.911C>T	c.(910-912)aCg>aTg	p.T304M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	304				T -> Y (in Ref. 5; AAA93514). {ECO:0000305}.	brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CGTCATATCCGTAGAGTTAAT	0.318													G|||	1	0.000199681	0	0	5008	,	,		16733	0		0.001	False		,,,				2504	0					ENST00000378076.3											0			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(910-912)aCg>aTg	integrin, alpha 8	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	52	54	53		911	5.6	1	10	dbSNP_134	53	12,8584	9.1+/-34.3	0,12,4286	yes	missense	ITGA8	NM_003638.1	81	0,14,6487	AA,AG,GG		0.1396,0.0454,0.1077	probably-damaging	304/1064	15701035	14,12988	2203	4298	6501	SO:0001583	missense	8516			cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15701035G>A	L36531	L36531	CCDS31155.1	CCDS31155.1	10p13	2010-03-23			2010-03-23			ENSG00000077943	ENSG00000077943	ENSG00000077943	ENSG00000077943		"Integrins"	"Integrins"	6144	6144	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604063	604063						7768999	7768999	Standard	Standard	XM_005252633	XM_005252633		Approved		uc001ioc.1	uc001ioc.1	P53708	P53708	OTTHUMG00000017733	OTTHUMG00000017733	ENST00000378076.3:c.911C>T	10.37:g.15701035G>A	ENSP00000367316:p.Thr304Met			p.T304M	NM_003638.1	NP_003629	P53708	ITA8_HUMAN			10	1264	-			304		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.911C>T	CCDS31155.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.50	3.839816	0.71488	4.54E-4	0.001396	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.24350	1.86	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.139474	0.64402	D	0.000005	T	0.45756	0.1358	L	0.55834	1.745	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;P	0.67103	0.949;0.891	T	0.22626	-1.0211	10	0.49607	T	0.09	.	16.2993	0.82801	0.0:0.0:1.0:0.0	.	289;304	F5H818;P53708	.;ITA8_HUMAN	M	304;289	ENSP00000367316:T304M	ENSP00000367316:T304M	T	-	2	0	0	ITGA8	15741041	15741041	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.825000	0.75293	2.634000	0.89283	0.563000	0.77884	ACG		0.318	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1		-2.210950	10	10	89	89	NM_003638		3	6.547389	6.547389	42	0.066667	0	0	0	1	0	3	42	0.066667	A	15701035	G	A	15701035	3	1	64	1	0	0	0	0	1	0	0	0	7882	1145	40	1	2364	1	ITGA8	10	15701035	Missense_Mutation	SNP	G	TCGA-WC-A87W-01A-11D-A39W-08		15701035	119833712	7	1208											
ITPR2	3709	ucsc.edu	37	12	26596576	26596576	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr12:26596576C>T	ENST00000381340.3	-	46	6766	c.6350G>A	c.(6349-6351)cGc>cAc	p.R2117H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2117					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTTATTGTGGCGGGCCAACTA	0.423																																																	0																	129	119	122					12																	26596576		1877	4116	5993	SO:0001583	missense	3709							D26350	D26350	CCDS41764.1	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104	ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	"Ion channels / Inositol triphosphate receptors"	6181	6181	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	"cilia and flagella associated protein 48"	600144	600144	"inositol 1,4,5-triphosphate receptor, type 2"		"inositol 1,4,5-triphosphate receptor, type 2"			8081734	8081734	Standard	Standard	XM_006719064	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	uc001rhg.3	Q14571	Q14571	OTTHUMG00000169181	OTTHUMG00000169181	ENST00000381340.3:c.6350G>A	12.37:g.26596576C>T	ENSP00000370744:p.Arg2117His																	O94773	Missense_Mutation	SNP	ENST00000381340.3	37		CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290020	0.59976	.	.	ENSG00000123104	ENST00000381340	D	0.92048	-2.96	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93283	0.6662	10	0.40728	T	0.16	.	18.5753	0.91153	0.0:1.0:0.0:0.0	.	2117	Q14571	ITPR2_HUMAN	H	2117	ENSP00000370744:R2117H	ENSP00000370744:R2117H	R	-	2	0	0	ITPR2	26487843	26487843	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.342000	0.79310	2.692000	0.91855	0.655000	0.94253	CGC		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1			13	13	67	67	NM_002223		4			38							4	38		T	26596576	C	T	26596576	3	4	64	1	0	0	0	0	1	0	0	0	7921	768	27	1	1803	1	ITPR2	12	26596576	Missense_Mutation	SNP	C	TCGA-WC-A87W-01A-11D-A39W-08		26596576	107255319	8	1209											
TRPM7	54822	broad.mit.edu	37	15	50866914	50866914	+	Missense_Mutation	SNP	T	T	A			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr15:50866914T>A	ENST00000313478.7	-	35	5303	c.5022A>T	c.(5020-5022)gaA>gaT	p.E1674D	TRPM7_ENST00000560955.1_Missense_Mutation_p.E1673D|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1674	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTTGTTGAATTTCCTATAAAA	0.303																																						ENST00000313478.7											0			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(5020-5022)gaA>gaT	transient receptor potential cation channel, subfamily M, member 7						126	120	122					15																	50866914		1810	4071	5881	SO:0001583	missense	54822			cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50866914T>A	AF346629	AF346629	CCDS42035.1, CCDS73725.1	CCDS42035.1, CCDS73725.1	15q21	2011-12-14			2011-12-14				ENSG00000092439		ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	17994	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605692	605692						11161216, 11385574, 16382100	11161216, 11385574, 16382100	Standard	Standard	XM_005254486	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	uc001zyt.4	Q96QT4	Q96QT4			ENST00000313478.7:c.5022A>T	15.37:g.50866914T>A	ENSP00000320239:p.Glu1674Asp		TRPM7_ENST00000560955.1_Missense_Mutation_p.E1673D|TRPM7_ENST00000561443.1_5'UTR	p.E1674D	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	35	5303	-			1674	Alpha-type protein kinase.	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.5022A>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472146	0.84533	.	.	ENSG00000092439	ENST00000313478	T	0.06371	3.31	5.25	5.25	0.73442	5.25	5.25	0.73442	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	L	0.36672	1.1	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.00657	-1.1623	10	0.87932	D	0	-26.0928	15.3214	0.74124	0.0:0.0:0.0:1.0	.	1674	Q96QT4	TRPM7_HUMAN	D	1674	ENSP00000320239:E1674D	ENSP00000320239:E1674D	E	-	3	2	2	TRPM7	48654206	48654206	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.362000	0.52314	2.191000	0.70037	0.528000	0.53228	GAA		0.303	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1		64.602695	1	1	90	90	NM_017672		23	66.299791	66.299791	46	0.333333	0	0	0	1	0	23	46	0.333333	A	50866914	T	A	50866914	3	1	64	1	0	0	0	0	1	0	0	0	16588	1838	64	5	595	5	TRPM7	15	50866914	Missense_Mutation	SNP	T	TCGA-WC-A87W-01A-11D-A39W-08		50866914	51664478	9	1210											
PCGF2	7703	broad.mit.edu	37	17	36891521	36891521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr17:36891521delC	ENST00000580830.1	-	12	1691	c.990delG	c.(988-990)gggfs	p.G330fs	PCGF2_ENST00000585100.1_3'UTR|PCGF2_ENST00000579882.1_3'UTR|PCGF2_ENST00000578109.1_3'UTR|PCGF2_ENST00000360797.2_Frame_Shift_Del_p.G330fs|PCGF2_ENST00000581345.1_Frame_Shift_Del_p.G330fs			P35227	PCGF2_HUMAN	polycomb group ring finger 2	330	Pro/Ser-rich.				anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCATCTTGCGCCCCCTGCTGG	0.627											OREG0024367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000580830.1											0			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(988-990)gggfs	polycomb group ring finger 2						17	10	13					17																	36891521		2167	4257	6424	SO:0001589	frameshift_variant	7703			negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:36891521delC	D13969	D13969	CCDS32638.1	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	12929	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600346	600346	"ring finger protein 110"	ZNF144, RNF110	"ring finger protein 110"	ZNF144, RNF110		8325509	8325509	Standard	Standard	NM_007144	NM_007144		Approved	MEL-18	uc002hqp.1	uc002hqp.1	P35227	P35227			ENST00000580830.1:c.990delG	17.37:g.36891521delC	ENSP00000461961:p.Gly330fs	866	PCGF2_ENST00000581345.1_Frame_Shift_Del_p.G330fs|PCGF2_ENST00000585100.1_3'UTR|PCGF2_ENST00000360797.2_Frame_Shift_Del_p.G330fs|PCGF2_ENST00000579882.1_3'UTR|PCGF2_ENST00000578109.1_3'UTR	p.G330fs			P35227	PCGF2_HUMAN			12	1691	-	Breast(7;9.07e-22)		330	Pro/Ser-rich.	A6NGD8	Frame_Shift_Del	DEL	ENST00000580830.1	37	c.990delG	CCDS32638.1																																																																																									0.627	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442246.2	.	.	4	4	6	6	NM_007144		2			4	0.33						2	4	0.33	-	36891521	C	-	36891521	7	5	64	1	0	1	0	1	0	0	0	0	11575	726	26	0	48	0	PCGF2	17	36891521	Frame_Shift_Del	DEL	C	TCGA-WC-A87W-01A-11D-A39W-08		36891521	44303689	10	1211											
RNF213	57674	broad.mit.edu	37	17	78332109	78332109	+	Silent	SNP	C	C	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr17:78332109C>T	ENST00000582970.1	+	37	11027	c.10884C>T	c.(10882-10884)gtC>gtT	p.V3628V	RNF213_ENST00000336301.6_Silent_p.V1701V|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.V3677V|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3628					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAAGCGGGTCCAAGGTGCTG	0.572																																						ENST00000582970.1											0			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(10882-10884)gtC>gtT	ring finger protein 213						70	61	64					17																	78332109		2203	4300	6503	SO:0001819	synonymous_variant	57674						g.chr17:78332109C>T	AK074030	AK074030	CCDS58606.1	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	14539	14539	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613768	613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	10997877, 21048783, 21799892	Standard	Standard	NM_020954	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	uc021uen.2	Q63HN8	Q63HN8			ENST00000582970.1:c.10884C>T	17.37:g.78332109C>T			RNF213_ENST00000336301.6_Silent_p.V1701V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.V3677V	p.V3628V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		37	11027	+	all_neural(118;0.0538)		0		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.10884C>T	CCDS58606.1																																																																																									0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		33.488526	-19	-19	43	43	NM_020914		12	34.373886	34.373886	24	0.333333	0	0	0	1	0	12	24	0.333333	T	78332109	C	T	78332109	2	4	64	1	0	0	0	0	0	0	0	1	13477	842	30	3		3	RNF213	17	78332109	Silent	SNP	C	TCGA-WC-A87W-01A-11D-A39W-08	41440588	78332109	2863101	11	1212											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		71.362376	-3	-3	78	78	NM_002067		25	71.948661	71.948661	38	0.396825	0	0	0	1	0	25	38	0.396825	T	3118942	A	T	3118942	3	4	64	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A87W-01A-11D-A39W-08		3118942	56010041	12	1213											
PPP1R15A	23645	broad.mit.edu	37	19	49377681	49377682	+	Frame_Shift_Ins	INS	-	-	G			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr19:49377681_49377682insG	ENST00000200453.5	+	2	1460_1461	c.1191_1192insG	c.(1192-1194)gagfs	p.E398fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	398	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GAGAGGACACAGAGGAGGAGGA	0.53																																						ENST00000200453.5											0			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1192-1194)gagfs	protein phosphatase 1, regulatory subunit 15A																																			SO:0001589	frameshift_variant	23645			apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377681_49377682insG	U83981	U83981	CCDS12738.1	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074	ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	14375	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	"growth arrest and DNA-damage-inducible 34"	611048	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"		"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	9153226, 9413226	Standard	Standard	NM_014330	NM_014330		Approved	GADD34	uc002pky.4	uc002pky.4	O75807	O75807			ENST00000200453.5:c.1192dupG	19.37:g.49377682_49377682dupG	ENSP00000200453:p.Glu398fs			p.E398fs	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1460_1461	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	398	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.	B4DKQ3|Q6IA96|Q9NVU6	Frame_Shift_Ins	INS	ENST00000200453.5	37	c.1191_1192insG	CCDS12738.1																																																																																									0.53	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	.	.	6	6	130	130	NM_014330		38			54	0.41						38	54	0.41	G	49377682	-	G	49377681	7	5	64	1	0	1	1	0	0	0	0	0	12363	175	7	0	1193	0	PPP1R15A	19	49377681	Frame_Shift_Ins	INS	-	TCGA-WC-A87W-01A-11D-A39W-08	46258739	49377681	9751302	13	1214											
ProSAPiP1	9762	broad.mit.edu	37	20	3145615	3145615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chr20:3145615delC	ENST00000329152.3	-	3	2904	c.1507delG	c.(1507-1509)gccfs	p.A503fs	LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A457fs|LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A457fs			O60299	LZTS3_HUMAN		503						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											TCCAGGCTGGCCTGCTTGCTG	0.716																																						ENST00000329152.3											0										c.(1507-1509)gccfs							6	6	6					20																	3145615		2119	4145	6264	SO:0001589	frameshift_variant	0						g.chr20:3145615delC																																																	ENST00000329152.3:c.1507delG	20.37:g.3145615delC	ENSP00000332123:p.Ala503fs		LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A457fs|LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A457fs	p.A503fs							3	2904	-					A2A2Q7|D3DVX6|Q8IXX8	Frame_Shift_Del	DEL	ENST00000329152.3	37	c.1507delG	CCDS13049.1																																																																																									0.716	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2	.	.	-2	-2	6	6			2			4	0.33						2	4	0.33	-	3145615	C	-	3145615	7	5	64	1	0	1	0	1	0	0	0	0	12870	739	26	0	518	0	ProSAPiP1	20	3145615	Frame_Shift_Del	DEL	C	TCGA-WC-A87W-01A-11D-A39W-08		3145615	59879905	14	1215											
MAGED1	9500	broad.mit.edu	37	X	51640905	51640905	+	Silent	SNP	A	A	G			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	g.chrX:51640905A>G	ENST00000375722.1	+	7	1833	c.1581A>G	c.(1579-1581)caA>caG	p.Q527Q	MAGED1_ENST00000375772.3_Silent_p.Q527Q|MAGED1_ENST00000375695.2_Silent_p.Q583Q|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.Q527Q			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	527	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TTGGGATTCAACTGAAAGAAA	0.443										Multiple Myeloma(10;0.10)																												ENST00000375695.2											0			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(1747-1749)caA>caG	melanoma antigen family D, 1						52	46	48					X																	51640905		2203	4299	6502	SO:0001819	synonymous_variant	9500			apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51640905A>G	AF124440	AF124440	CCDS14337.1, CCDS35279.1	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			2008-08-01			ENSG00000179222	ENSG00000179222	ENSG00000179222	ENSG00000179222				6813	6813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300224	300224						10409427	10409427	Standard	Standard	NM_006986	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	uc004dpn.3	Q9Y5V3	Q9Y5V3	OTTHUMG00000021540	OTTHUMG00000021540	ENST00000375722.1:c.1581A>G	X.37:g.51640905A>G			MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Silent_p.Q527Q|MAGED1_ENST00000375772.3_Silent_p.Q527Q|MAGED1_ENST00000326587.7_Silent_p.Q527Q	p.Q583Q	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			8	1902	+	Ovarian(276;0.236)		527	MAGE.	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	c.1749A>G	CCDS14337.1																																																																																									0.443	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1		29.371404	-8	-8	23	23	NM_001005332		9	29.530145	29.530145	13	0.409091	0	0	0	1	0	9	13	0.409091	G	51640905	A	G	51640905	2	3	64	1	0	0	0	0	0	0	0	1	9183	40	2	4		4	MAGED1	23	51640905	Silent	SNP	A	TCGA-WC-A87W-01A-11D-A39W-08		51640905	103629655	15	1216											
NBPF3	84224	broad.mit.edu	37	1	21798124	21798124	+	Missense_Mutation	SNP	A	A	G	rs568222571		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr1:21798124A>G	ENST00000318249.5	+	5	859	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	NBPF3_ENST00000454000.2_Missense_Mutation_p.Q100R|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000318220.6_Missense_Mutation_p.Q114R	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	170						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGAAGTTACAGGAAGGGAGA	0.517													.|||	1	0.000199681	0	0	5008	,	,		20334	0		0	False		,,,				2504	0.001					ENST00000318220.6											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(340-342)cAg>cGg	neuroblastoma breakpoint family, member 3						119	130	126					1																	21798124		2203	4298	6501	SO:0001583	missense	84224				cytoplasm		g.chr1:21798124A>G	BC024011	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			2013-01-17			ENSG00000142794	ENSG00000142794	ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	"neuroblastoma breakpoint family"	25076	25076	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612992	612992						11230166, 16079250	11230166, 16079250	Standard	Standard	NM_032264	NM_032264		Approved	AE2	uc001ber.4	uc001ber.4	Q9H094	Q9H094	OTTHUMG00000002944	OTTHUMG00000002944	ENST00000318249.5:c.509A>G	1.37:g.21798124A>G	ENSP00000316782:p.Gln170Arg		NBPF3_ENST00000318249.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000454000.2_Missense_Mutation_p.Q100R	p.Q114R			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	8	1389	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	170		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.341A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.352898	0.00217	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.43688	0.94;4.79;4.76;4.71;4.79	1.23	-1.78	0.07957	1.23	-1.78	0.07957	.	.	.	.	.	T	0.10723	0.0262	N	0.00960	-1.095	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.24261	-1.0165	9	0.02654	T	1	.	5.6506	0.17614	0.6152:0.0:0.3848:0.0	.	100;170;170	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	R	100;114;170;114;170;114	ENSP00000415711:Q100R;ENSP00000316739:Q114R;ENSP00000316782:Q170R;ENSP00000340336:Q170R;ENSP00000391865:Q114R	ENSP00000316739:Q114R	Q	+	2	0	0	NBPF3	21670711	21670711	0.082000	0.21442	0.000000	0.03702	0.005000	0.04900	-1.244000	0.02902	-1.121000	0.02949	-1.559000	0.00887	CAG		0.517	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			-30.905533	-95	-95	176	176	NM_032264		6	10.712685	10.712685	170	0.034091	0	0	0	1	0	6	170	0.034091	G	21798124	A	G	21798124	3	3	65	1	0	0	0	0	1	0	0	0	10197	188	7	4	523	4	NBPF3	1	21798124	Missense_Mutation	SNP	A	TCGA-WC-A87Y-01A-11D-A39W-08		21798124	227452497	1	1217											
AHCTF1	25909	broad.mit.edu	37	1	247006072	247006072	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr1:247006072C>T	ENST00000391829.2	-	35	6655	c.6532G>A	c.(6532-6534)Gat>Aat	p.D2178N	AHCTF1_ENST00000366508.1_Missense_Mutation_p.D2213N|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D2187N|AHCTF1_ENST00000470300.1_Intron			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2178	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATTGTGCATCATCTTTCTAT	0.358																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1											0			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(6637-6639)Gat>Aat	AT hook containing transcription factor 1						210	193	198					1																	247006072		2203	4300	6503	SO:0001583	missense	25909			cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247006072C>T			CCDS1629.1, CCDS1629.2	CCDS1629.1, CCDS1629.2	1q44	2008-09-09			2008-09-09			ENSG00000153207	ENSG00000153207	ENSG00000153207	ENSG00000153207				24618	24618	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	"ELYS transcription factor like protein TMBS62"	610853	610853						11952839	11952839	Standard	Standard	NM_015446	NM_015446		Approved	ELYS	uc001ibv.2	uc001ibv.2	Q8WYP5	Q8WYP5	OTTHUMG00000040706	OTTHUMG00000040706	ENST00000391829.2:c.6532G>A	1.37:g.247006072C>T	ENSP00000375705:p.Asp2178Asn		AHCTF1_ENST00000391829.2_Missense_Mutation_p.D2178N|AHCTF1_ENST00000470300.1_Intron|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D2187N	p.D2213N			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		35	6773	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2178	Necessary for nuclear localization (By similarity).	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6637G>A		.	.	.	.	.	.	.	.	.	.	C	11.66	1.705405	0.30232	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.38560	1.13;1.14;1.14	5.06	3.16	0.36331	5.06	3.16	0.36331	.	0.275715	0.31233	N	0.008009	T	0.34424	0.0897	L	0.52364	1.645	0.35087	D	0.763997	B;B	0.20887	0.047;0.049	B;B	0.18263	0.021;0.018	T	0.35500	-0.9786	10	0.31617	T	0.26	-11.8773	9.7454	0.40444	0.0:0.8362:0.0:0.1638	.	2213;2178	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	N	2213;2187;2178	ENSP00000355464:D2213N;ENSP00000355465:D2187N;ENSP00000375705:D2178N	ENSP00000355465:D2187N	D	-	1	0	0	AHCTF1	245072695	245072695	0.697000	0.27767	0.975000	0.42487	0.300000	0.27592	0.040000	0.13905	0.624000	0.30286	0.591000	0.81541	GAT		0.358	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			63.839374	-42	-42	115	115	NM_015446		22	65.334675	65.334675	43	0.338462	0	0	0	1	0	22	43	0.338462	T	247006072	C	T	247006072	3	4	65	1	0	0	0	0	1	0	0	0	408	826	29	3	276	3	AHCTF1	1	247006072	Missense_Mutation	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08	225207948	247006072	2244549	2	1218											
SNTG2	54221	broad.mit.edu	37	2	1263147	1263147	+	Silent	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr2:1263147C>T	ENST00000308624.5	+	13	1140	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	SNTG2_ENST00000407292.1_Silent_p.S210S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	337	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCAGGTGAGCACATTCGATT	0.403																																						ENST00000308624.5											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1009-1011)agC>agT	syntrophin, gamma 2						116	109	111					2																	1263147		1880	4128	6008	SO:0001819	synonymous_variant	54221			central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1263147C>T	AJ003029	AJ003029	CCDS46220.1	CCDS46220.1	2p25	2008-05-23			2008-05-23			ENSG00000172554	ENSG00000172554	ENSG00000172554	ENSG00000172554				13741	13741	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608715	608715						10747910	10747910	Standard	Standard	NM_018968	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	uc002qwq.3	Q9NY99	Q9NY99	OTTHUMG00000151370	OTTHUMG00000151370	ENST00000308624.5:c.1011C>T	2.37:g.1263147C>T			SNTG2_ENST00000407292.1_Silent_p.S210S	p.S337S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	13	1140	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	337	PH.	Q05AH5	Silent	SNP	ENST00000308624.5	37	c.1011C>T	CCDS46220.1																																																																																									0.403	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1		17.774874	-4	-4	49	49	NM_018968		8	21.329515	21.329515	33	0.195122	0	0	0	1	0	8	33	0.195122	T	1263147	C	T	1263147	2	4	65	1	0	0	0	0	0	0	0	1	14875	709	25	2		2	SNTG2	2	1263147	Silent	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08		1263147	241936226	3	1219											
MAN2A1	4124	broad.mit.edu	37	5	109106204	109106204	+	Silent	SNP	C	C	G			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr5:109106204C>G	ENST00000261483.4	+	7	2210	c.1158C>G	c.(1156-1158)gtC>gtG	p.V386V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	386					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CCTGGGGAGTCCCCCCAGAAA	0.433																																						ENST00000261483.4											0			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1156-1158)gtC>gtG	mannosidase, alpha, class 2A, member 1						86	84	85					5																	109106204		2202	4300	6502	SO:0001819	synonymous_variant	4124			mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109106204C>G			CCDS34209.1	CCDS34209.1	5q21.3	2013-09-20			2013-09-20			ENSG00000112893	ENSG00000112893	ENSG00000112893	ENSG00000112893	3.2.1.114			6824	6824	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	"golgi integral membrane protein 7"	154582	154582		MANA2		MANA2		1757461, 15004235	1757461, 15004235	Standard	Standard	NM_002372	NM_002372		Approved	GOLIM7	uc003kou.1	uc003kou.1	Q16706	Q16706	OTTHUMG00000162834	OTTHUMG00000162834	ENST00000261483.4:c.1158C>G	5.37:g.109106204C>G				p.V386V	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	7	2210	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	386		Q16767	Silent	SNP	ENST00000261483.4	37	c.1158C>G	CCDS34209.1																																																																																									0.433	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		-9.630693	13	13	75	75			3	6.337902	6.337902	68	0.042254	0	0	0	1	0	3	68	0.042254	G	109106204	C	G	109106204	2	3	65	1	0	0	0	0	0	0	0	1	9214	842	30	5		5	MAN2A1	5	109106204	Silent	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08		109106204	71809056	4	1220											
PURA	5813	broad.mit.edu	37	5	139493896	139493898	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr5:139493896_139493898delGGC	ENST00000331327.3	+	1	189_191	c.130_132delGGC	c.(130-132)ggcdel	p.G49del	PURA_ENST00000505703.1_3'UTR	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	49	Gly-rich.				DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)	p.G44delG(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cggcggcagtggcggcggcggcg	0.778																																						ENST00000331327.3											1	Deletion - In frame(1)	central_nervous_system(1)	central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(130-132)ggcdel	purine-rich element binding protein A			16,814		2,12,401						2.8	1			3	100,2536		12,76,1230	no	coding	PURA	NM_005859.4		14,88,1631	A1A1,A1R,RR		3.7936,1.9277,3.3468				116,3350				SO:0001651	inframe_deletion	5813			DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139493896_139493898delGGC	BC036087	BC036087	CCDS4220.1	CCDS4220.1	5q31	2008-02-05			2008-02-05			ENSG00000185129	ENSG00000185129	ENSG00000185129	ENSG00000185129				9701	9701	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600473	600473						1448097	1448097	Standard	Standard	NM_005859	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	uc003lfa.3	Q00577	Q00577	OTTHUMG00000129242	OTTHUMG00000129242	ENST00000331327.3:c.130_132delGGC	5.37:g.139493905_139493907delGGC	ENSP00000332706:p.Gly49del		PURA_ENST00000505703.1_3'UTR	p.G49del	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	189_191	+			49	Gly-rich.		In_Frame_Del	DEL	ENST00000331327.3	37	c.130_132delGGC	CCDS4220.1																																																																																									0.778	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	.	.	3	3	9	9	NM_005859		4			3	0.57						4	3	0.57	-	139493898	GGC	-	139493896	7	5	65	1	0	1	0	1	0	0	0	0	12827	1348	47	0	132	0	PURA	5	139493896	In_Frame_Del	DEL	GGC	TCGA-WC-A87Y-01A-11D-A39W-08	30387692	139493896	41421364	5	1221											
UNC5B	219699	broad.mit.edu	37	10	73050857	73050857	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr10:73050857G>A	ENST00000335350.6	+	9	1701	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	429					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.A429T(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTTTAAGACGGCAAGGCCCAG	0.597																																						ENST00000335350.6											2	Substitution - Missense(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1285-1287)Gca>Aca	unc-5 homolog B (C. elegans)						165	158	160					10																	73050857		2203	4300	6503	SO:0001583	missense	219699			apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050857G>A	AB096256	AB096256	CCDS7309.1, CCDS58083.1	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731	ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	"Immunoglobulin superfamily / I-set domain containing"	12568	12568	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607870	607870	"unc5 (C.elegans homolog) b"		"unc5 (C.elegans homolog) b"					Standard	Standard	NM_170744	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	uc001jro.3	Q8IZJ1	Q8IZJ1	OTTHUMG00000018422	OTTHUMG00000018422	ENST00000335350.6:c.1285G>A	10.37:g.73050857G>A	ENSP00000334329:p.Ala429Thr		UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	p.A429T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			9	1701	+			429		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1285G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014355	0.07959	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.51574	0.78;0.7	5.39	2.49	0.30216	5.39	2.49	0.30216	.	0.365957	0.31495	N	0.007559	T	0.37758	0.1015	L	0.53249	1.67	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.25152	-1.0140	10	0.31617	T	0.26	-3.4221	6.4845	0.22081	0.1408:0.0:0.4509:0.4083	.	418;429	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	429;418	ENSP00000334329:A429T;ENSP00000362288:A418T	ENSP00000334329:A429T	A	+	1	0	0	UNC5B	72720863	72720863	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.081000	0.30791	0.253000	0.21552	-0.136000	0.14681	GCA		0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1		-37.461449	-9	-9	228	228	NM_170744		4	6.938716	6.938716	171	0.022857	0	0	0	1	0	4	171	0.022857	A	73050857	G	A	73050857	3	1	65	1	0	0	0	0	1	0	0	0	16989	1203	42	2	1319	2	UNC5B	10	73050857	Missense_Mutation	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08		73050857	62483890	6	1222											
PRRG4	79056	broad.mit.edu	37	11	32858271	32858271	+	Silent	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr11:32858271G>A	ENST00000257836.3	+	3	424	c.171G>A	c.(169-171)ctG>ctA	p.L57L		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	57	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					GATTTGATCTGGAGCTCTTCA	0.348																																						ENST00000257836.3											0			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7						c.(169-171)ctG>ctA	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)						59	61	61					11																	32858271		2202	4299	6501	SO:0001819	synonymous_variant	79056				extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	g.chr11:32858271G>A	AF326351	AF326351	CCDS7881.1	CCDS7881.1	11p13	2008-02-05			2008-02-05			ENSG00000135378	ENSG00000135378	ENSG00000135378	ENSG00000135378				30799	30799	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611690	611690						11171957	11171957	Standard	Standard	NM_024081	NM_024081		Approved	TMG4	uc001mtx.3	uc001mtx.3	Q9BZD6	Q9BZD6	OTTHUMG00000166219	OTTHUMG00000166219	ENST00000257836.3:c.171G>A	11.37:g.32858271G>A				p.L57L	NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN			3	424	+	Breast(20;0.206)		57	Gla.		Silent	SNP	ENST00000257836.3	37	c.171G>A	CCDS7881.1																																																																																									0.348	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1		43.008727	4	4	58	58	NM_024081		15	44.243236	44.243236	31	0.326087	0	0	0	1	0	15	31	0.326087	A	32858271	G	A	32858271	2	1	65	1	0	0	0	0	0	0	0	1	12608	1335	47	3		3	PRRG4	11	32858271	Silent	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08		32858271	102148245	7	1223											
ARL6IP4	23457	broad.mit.edu	37	12	123466190	123466190	+	5'UTR	DEL	C	C	-	rs190753885		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr12:123466190delC	ENST00000542678.1	-	0	6				RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000357866.4_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000543566.1_Frame_Shift_Del_p.S202fs|ARL6IP4_ENST00000453766.2_Frame_Shift_Del_p.S213fs|ARL6IP4_ENST00000454885.2_Frame_Shift_Del_p.S87fs|ARL6IP4_ENST00000315580.5_Frame_Shift_Del_p.S221fs|ARL6IP4_ENST00000412505.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000392435.2_Frame_Shift_Del_p.S202fs|ARL6IP4_ENST00000426960.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000439686.2_Frame_Shift_Del_p.S90fs			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		AGctcctcctcctcttcttcc	0.562																																					Ovarian(49;786 1333 9175 38236)	ENST00000315580.5											0										c.(601-603)tccfs	ADP-ribosylation-like factor 6 interacting protein 4						21	21	21					12																	123466190		2197	4290	6487	SO:0001623	5_prime_UTR_variant	51329			RNA splicing	nucleus		g.chr12:123466190delC	U66676	AB035384	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	CCDS31923.1, CCDS41856.1, CCDS45004.1, CCDS53843.1, CCDS61273.1, CCDS31923.2, CCDS41856.2, CCDS45004.2, CCDS53843.2	12q24	2012-03-14			2014-05-12	2014-05-12		ENSG00000150967	ENSG00000150967	ENSG00000182196	ENSG00000182196		"ATP binding cassette transporters / subfamily B"		50	18076	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product		"SRp25 nuclear protein", "splicing factor, arginine/serine-rich 20"	605453	607668			"ADP-ribosylation-like factor 6 interacting protein 4"			8894702	10708573, 11884129	Standard	Standard	NM_019625	NM_018694		Approved	EST122234	uc001udm.4	uc001ued.3	Q9NP78	Q66PJ3		OTTHUMG00000168779	ENST00000542678.1:c.-2833G>-	12.37:g.123466190delC			ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000357866.4_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000439686.2_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000412505.2_Frame_Shift_Del_p.S79fs|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000454885.2_Frame_Shift_Del_p.S87fs|ARL6IP4_ENST00000453766.2_Frame_Shift_Del_p.S213fs|ARL6IP4_ENST00000426960.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000392435.2_Frame_Shift_Del_p.S202fs|ARL6IP4_ENST00000543566.1_Frame_Shift_Del_p.S202fs	p.S221fs			Q66PJ3	AR6P4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	3	930	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		221	Ser-rich.	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Frame_Shift_Del	DEL	ENST00000542678.1	37	c.602delC	CCDS9241.1																																																																																									0.562	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	.	.	-3	-3	7	7	NM_019624		2			4	0.33						2	4	0.33	-	123466190	C	-	123466190	6	5	65	0	1	1	0	1	0	0	0	0	943	855	30	0		0	ARL6IP4	12	123466190	5'UTR	DEL	C	TCGA-WC-A87Y-01A-11D-A39W-08		123466190	10385705	8	1224											
KIAA0564	23078	broad.mit.edu	37	13	42461419	42461419	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr13:42461419G>A	ENST00000379310.3	-	6	798	c.730C>T	c.(730-732)Cca>Tca	p.P244S	VWA8_ENST00000281496.6_Missense_Mutation_p.P244S	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	244						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTTGGCACTGGCAAGCCCAAG	0.413																																						ENST00000379310.3											0										c.(730-732)Cca>Tca	von Willebrand factor A domain containing 8						69	73	72					13																	42461419		2203	4300	6503	SO:0001583	missense	23078						g.chr13:42461419G>A	AB011136	AB011136	CCDS31963.1, CCDS41881.1	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763	ENSG00000102763	ENSG00000102763				29071	29071	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"KIAA0564"	KIAA0564	"KIAA0564"	KIAA0564		9628581	9628581	Standard	Standard	NM_015058	NM_015058		Approved		uc001uyj.3	uc001uyj.3	A3KMH1	A3KMH1	OTTHUMG00000016799	OTTHUMG00000016799	ENST00000379310.3:c.730C>T	13.37:g.42461419G>A	ENSP00000368612:p.Pro244Ser		VWA8_ENST00000281496.6_Missense_Mutation_p.P244S	p.P244S	NM_015058.1	NP_055873.1					6	798	-					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.730C>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857441	0.91433	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.55760	0.5;0.5	5.11	5.11	0.69529	5.11	5.11	0.69529	ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000001	T	0.81178	0.4768	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86716	0.1939	10	0.87932	D	0	.	18.9359	0.92584	0.0:0.0:1.0:0.0	.	244	A3KMH1	K0564_HUMAN	S	148;244;244;244	ENSP00000368612:P244S;ENSP00000281496:P244S	ENSP00000251030:P148S	P	-	1	0	0	KIAA0564	41359419	41359419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.740000	0.98839	2.538000	0.85594	0.650000	0.86243	CCA		0.413	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		-5.119755	-6	-6	63	63	NM_015058		3	6.378299	6.378299	52	0.054545	0	0	0	1	0	3	52	0.054545	A	42461419	G	A	42461419	3	1	65	1	0	0	0	0	1	0	0	0	8185	1203	42	2	5151	2	KIAA0564	13	42461419	Missense_Mutation	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08		42461419	72708459	9	1225											
ANXA2	302	broad.mit.edu	37	15	60648185	60648185	+	Missense_Mutation	SNP	T	T	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:60648185T>A	ENST00000396024.3	-	8	620	c.461A>T	c.(460-462)gAt>gTt	p.D154V	ANXA2_ENST00000421017.2_Missense_Mutation_p.D154V|ANXA2_ENST00000451270.2_Missense_Mutation_p.D154V|ANXA2_ENST00000332680.4_Missense_Mutation_p.D172V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	154					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	CTTCTCCAGATCAGTCTTGTA	0.473																																						ENST00000396024.3											0			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(460-462)gAt>gTt	annexin A2						151	131	137					15																	60648185		2203	4300	6503	SO:0001583	missense	302			angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60648185T>A	D00017	D00017	CCDS10175.1, CCDS32256.1	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			2012-10-02			ENSG00000182718	ENSG00000182718	ENSG00000182718	ENSG00000182718		"Annexins"	"Annexins"	537	537	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"annexin II"	"annexin II"	151740	151740		ANX2, ANX2L4, CAL1H, LPC2D		ANX2, ANX2L4, CAL1H, LPC2D		7961821	7961821	Standard	Standard	NM_001136015	NM_001136015		Approved	LIP2	uc002agm.3	uc002agm.3	P07355	P07355	OTTHUMG00000132763	OTTHUMG00000132763	ENST00000396024.3:c.461A>T	15.37:g.60648185T>A	ENSP00000379342:p.Asp154Val		ANXA2_ENST00000451270.2_Missense_Mutation_p.D154V|ANXA2_ENST00000332680.4_Missense_Mutation_p.D172V|ANXA2_ENST00000421017.2_Missense_Mutation_p.D154V	p.D154V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN			8	620	-			154		Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	c.461A>T	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898927	0.72754	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270;ENST00000504475	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.78	5.78	0.91487	5.78	5.78	0.91487	Annexin repeat, conserved site (1);	0.059193	0.64402	U	0.000004	T	0.25494	0.0620	H	0.96015	3.755	0.80722	D	1	B;P	0.36683	0.442;0.565	B;P	0.47346	0.188;0.544	T	0.07770	-1.0755	10	0.72032	D	0.01	.	15.0972	0.72244	0.0:0.0:0.0:1.0	.	172;154	P07355-2;P07355	.;ANXA2_HUMAN	V	154;172;154;154;37	ENSP00000379342:D154V;ENSP00000346032:D172V;ENSP00000411352:D154V;ENSP00000387545:D154V	ENSP00000346032:D172V	D	-	2	0	0	ANXA2	58435477	58435477	1.000000	0.71417	0.728000	0.30774	0.633000	0.38033	6.898000	0.75676	2.200000	0.70718	0.460000	0.39030	GAT		0.473	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1		50.798713	-2	-2	49	49	NM_001002857		16	50.805303	50.805303	17	0.484848	0	0	0	1	0	16	17	0.484848	A	60648185	T	A	60648185	3	1	65	1	0	0	0	0	1	0	0	0	718	1435	50	5	586	5	ANXA2	15	60648185	Missense_Mutation	SNP	T	TCGA-WC-A87Y-01A-11D-A39W-08		60648185	41883207	10	1226											
ABHD2	11057	broad.mit.edu	37	15	89694924	89694924	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:89694924A>G	ENST00000352732.5	+	4	731	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	ABHD2_ENST00000565973.1_Missense_Mutation_p.I71V|ABHD2_ENST00000355100.3_Missense_Mutation_p.I71V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	71					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCCACCGTTGATCTGGGGGAA	0.453																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5											0			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(211-213)Atc>Gtc	abhydrolase domain containing 2						135	123	127					15																	89694924		2200	4299	6499	SO:0001583	missense	11057				integral to membrane	carboxylesterase activity	g.chr15:89694924A>G	X12433	X12433	CCDS10348.1	CCDS10348.1	15q26.1	2006-10-06			2006-10-06			ENSG00000140526	ENSG00000140526	ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	"Abhydrolase domain containing"	18717	18717	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612196	612196								Standard	Standard	NM_152924	NM_152924		Approved	LABH2	uc002bnk.2	uc002bnk.2	P08910	P08910	OTTHUMG00000148684	OTTHUMG00000148684	ENST00000352732.5:c.211A>G	15.37:g.89694924A>G	ENSP00000268129:p.Ile71Val		ABHD2_ENST00000565973.1_Missense_Mutation_p.I71V|ABHD2_ENST00000355100.3_Missense_Mutation_p.I71V	p.I71V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			4	731	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		71		Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.211A>G	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870785	0.51695	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.13901	2.55;2.55	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.059876	0.64402	D	0.000002	T	0.12008	0.0292	L	0.29908	0.895	0.47778	D	0.999519	B	0.18310	0.027	B	0.19946	0.027	T	0.16158	-1.0412	10	0.15066	T	0.55	-0.1146	16.5655	0.84588	1.0:0.0:0.0:0.0	.	71	P08910	ABHD2_HUMAN	V	71	ENSP00000268129:I71V;ENSP00000347217:I71V	ENSP00000268129:I71V	I	+	1	0	0	ABHD2	87495928	87495928	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.166000	0.58203	2.302000	0.77476	0.533000	0.62120	ATC		0.453	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2		107.771224	-66	-66	89	89			36	109.943305	109.943305	68	0.346154	0	0	0	1	0	36	68	0.346154	G	89694924	A	G	89694924	3	3	65	1	0	0	0	0	1	0	0	0	82	333	12	4	217	4	ABHD2	15	89694924	Missense_Mutation	SNP	A	TCGA-WC-A87Y-01A-11D-A39W-08	29046739	89694924	12836468	11	1227											
RGS11	8786	broad.mit.edu	37	16	321227	321227	+	Silent	SNP	G	G	A	rs370941756		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:321227G>A	ENST00000397770.3	-	12	854	c.837C>T	c.(835-837)gaC>gaT	p.D279D	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.D258D|RGS11_ENST00000359740.5_Silent_p.D268D			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	279	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.D279E(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCAGTAGGCGTCATTGTCTG	0.672																																						ENST00000397770.3											1	Substitution - Missense(1)	lung(1)	endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(835-837)gaC>gaT	regulator of G-protein signaling 11	G	,	0,4404		0,0,2202	30	36	34		774,837	-8.2	0	16		34	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous	RGS11	NM_003834.1,NM_183337.1	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	258/447,279/468	321227	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	8786			G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321227G>A	AF035153	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344	ENSG00000076344	ENSG00000076344		"Regulators of G-protein signaling"	"Regulators of G-protein signaling"	9993	9993	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603895	603895	"regulator of G-protein signalling 11"		"regulator of G-protein signalling 11"			9789084	9789084	Standard	Standard	NM_001286486	NM_001286486		Approved		uc002cgj.1	uc002cgj.1	O94810	O94810	OTTHUMG00000064893	OTTHUMG00000064893	ENST00000397770.3:c.837C>T	16.37:g.321227G>A			ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.D268D|RGS11_ENST00000316163.5_Silent_p.D258D	p.D279D			O94810	RGS11_HUMAN			12	854	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	279	G protein gamma.	O75883|Q4TT71|Q4TT72	Silent	SNP	ENST00000397770.3	37	c.837C>T	CCDS42088.1																																																																																									0.672	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2		24.112139	-5	-5	23	23			8	24.281734	24.281734	12	0.4	0	0	0	1	0	8	12	0.4	A	321227	G	A	321227	2	1	65	1	0	0	0	0	0	0	0	1	13294	1136	40	1		1	RGS11	16	321227	Silent	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08		321227	90033526	12	1228											
PRR14	78994	broad.mit.edu	37	16	30666177	30666177	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:30666177G>A	ENST00000542965.2	+	7	1342	c.886G>A	c.(886-888)Gct>Act	p.A296T	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.A296T			Q9BWN1	PRR14_HUMAN	proline rich 14	296	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCAGTCTGGGGCTGCTGAGGG	0.637																																						ENST00000542965.2											0			breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(886-888)Gct>Act	proline rich 14						40	43	42					16																	30666177		2197	4299	6496	SO:0001583	missense	78994						g.chr16:30666177G>A	AK074783	AK074783	CCDS10687.1	CCDS10687.1	16p11.2	2008-02-05			2008-02-05			ENSG00000156858	ENSG00000156858	ENSG00000156858	ENSG00000156858				28458	28458	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_024031	NM_024031		Approved	MGC3121	uc002dyy.3	uc002dyy.3	Q9BWN1	Q9BWN1	OTTHUMG00000132414	OTTHUMG00000132414	ENST00000542965.2:c.886G>A	16.37:g.30666177G>A	ENSP00000441641:p.Ala296Thr		PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.A296T	p.A296T			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1342	+			296	Pro-rich.	Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.886G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675314	0.47781	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.46063	0.88;0.88	5.45	4.48	0.54585	5.45	4.48	0.54585	.	2.915910	0.01328	N	0.011165	T	0.52500	0.1738	L	0.57536	1.79	0.18873	N	0.999986	P	0.44816	0.844	P	0.46076	0.503	T	0.49000	-0.8984	10	0.52906	T	0.07	-5.3799	12.3215	0.54987	0.0852:0.0:0.9148:0.0	.	296	Q9BWN1	PRR14_HUMAN	T	269;296;296	ENSP00000300835:A296T;ENSP00000441641:A296T	ENSP00000287463:A269T	A	+	1	0	0	PRR14	30573678	30573678	0.784000	0.28713	0.358000	0.25811	0.997000	0.91878	1.092000	0.30927	2.716000	0.92895	0.643000	0.83706	GCT		0.637	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1		44.923342	-10	-10	35	35	NM_024031		15	45.140218	45.140218	21	0.416667	0	0	0	1	0	15	21	0.416667	A	30666177	G	A	30666177	3	1	65	1	0	0	0	0	1	0	0	0	12586	1203	42	2	912	2	PRR14	16	30666177	Missense_Mutation	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08	30344950	30666177	59688576	13	1229											
CHST4	10164	broad.mit.edu	37	16	71571118	71571118	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:71571118C>T	ENST00000338482.5	+	3	881	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	CHST4_ENST00000572450.1_Missense_Mutation_p.R180C|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.R180C			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	180					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.R180C(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAAGGAGGTGCGCTTCTTCAA	0.637																																						ENST00000338482.5											1	Substitution - Missense(1)	large_intestine(1)	cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(538-540)Cgc>Tgc	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4						87	87	87					16																	71571118		2198	4300	6498	SO:0001583	missense	10164			cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571118C>T	AF131235	AF131235	CCDS10902.1	CCDS10902.1	16q22.2	2008-02-05			2008-02-05			ENSG00000140835	ENSG00000140835	ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	"Sulfotransferases, membrane-bound"	1972	1972	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10330415	10330415	Standard	Standard	NM_001166395	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	uc002fao.3	Q8NCG5	Q8NCG5	OTTHUMG00000137592	OTTHUMG00000137592	ENST00000338482.5:c.538C>T	16.37:g.71571118C>T	ENSP00000341206:p.Arg180Cys		ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R180C|CHST4_ENST00000539698.3_Missense_Mutation_p.R180C	p.R180C			Q8NCG5	CHST4_HUMAN			3	881	+			180		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.538C>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410209	0.83340	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.84730	-1.89;-1.89	5.8	5.8	0.92144	5.8	5.8	0.92144	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94725	0.8298	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95673	0.8725	10	0.87932	D	0	-3.2798	17.5569	0.87894	0.0:1.0:0.0:0.0	.	180	Q8NCG5	CHST4_HUMAN	C	180	ENSP00000341206:R180C;ENSP00000441204:R180C	ENSP00000341206:R180C	R	+	1	0	0	CHST4	70128619	70128619	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.915000	0.56409	2.735000	0.93741	0.655000	0.94253	CGC		0.637	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4		16.385456	2	2	57	57	NM_005769		7	17.496374	17.496374	18	0.28	0	0	0	1	0	7	18	0.28	T	71571118	C	T	71571118	3	4	65	1	0	0	0	0	1	0	0	0	3406	768	27	1	540	1	CHST4	16	71571118	Missense_Mutation	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08	40904941	71571118	18783635	14	1230											
MYH4	4622	broad.mit.edu	37	17	10355524	10355524	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr17:10355524C>T	ENST00000255381.2	-	27	3582	c.3472G>A	c.(3472-3474)Ggt>Agt	p.G1158S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1158					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGGCCCCACCGGCTTCTTCC	0.612																																						ENST00000255381.2											0			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3472-3474)Ggt>Agt	myosin, heavy chain 4, skeletal muscle						82	91	88					17																	10355524		2203	4300	6503	SO:0001583	missense	4622			muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355524C>T			CCDS11154.1	CCDS11154.1	17p13.1	2013-09-19	2006-09-29		2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424	ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	"Myosins / Myosin superfamily : Class II"	7574	7574	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			160742	160742	"myosin, heavy polypeptide 4, skeletal muscle"		"myosin, heavy polypeptide 4, skeletal muscle"			8518795	8518795	Standard	Standard	NM_017533	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	uc002gmn.3	Q9Y623	Q9Y623	OTTHUMG00000130365	OTTHUMG00000130365	ENST00000255381.2:c.3472G>A	17.37:g.10355524C>T	ENSP00000255381:p.Gly1158Ser		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.G1158S	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			27	3582	-			1158			Missense_Mutation	SNP	ENST00000255381.2	37	c.3472G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771001	0.69992	.	.	ENSG00000141048	ENST00000255381	D	0.82167	-1.58	5.4	4.43	0.53597	5.4	4.43	0.53597	Myosin tail (1);	0.000000	0.37955	U	0.001862	D	0.87281	0.6138	M	0.74647	2.275	0.58432	D	0.999997	P	0.50443	0.935	P	0.52481	0.7	D	0.88485	0.3071	10	0.59425	D	0.04	.	14.4601	0.67442	0.0:0.9286:0.0:0.0714	.	1158	Q9Y623	MYH4_HUMAN	S	1158	ENSP00000255381:G1158S	ENSP00000255381:G1158S	G	-	1	0	0	MYH4	10296249	10296249	1.000000	0.71417	0.278000	0.24718	0.760000	0.43138	6.017000	0.70805	1.417000	0.47077	0.655000	0.94253	GGT		0.612	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		152.486460	-16	-16	138	138	NM_017533		51	155.184547	155.184547	93	0.354167	0	0	0	1	0	51	93	0.354167	T	10355524	C	T	10355524	3	4	65	1	0	0	0	0	1	0	0	0	10037	652	23	1	2403	1	MYH4	17	10355524	Missense_Mutation	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08		10355524	70839686	15	1231											
TNS4	84951	broad.mit.edu	37	17	38645057	38645057	+	Missense_Mutation	SNP	T	T	C	rs372464786		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr17:38645057T>C	ENST00000254051.6	-	3	762	c.604A>G	c.(604-606)Atc>Gtc	p.I202V		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	202	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCAGAGAAGATGAGGCTCTCA	0.652																																						ENST00000254051.6											0			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(604-606)Atc>Gtc	tensin 4	T	VAL/ILE	0,4390		0,0,2195	37	46	43		604	5.8	1	17		43	1,8577		0,1,4288	no	missense	TNS4	NM_032865.5	29	0,1,6483	CC,CT,TT		0.0117,0.0,0.0077	probably-damaging	202/716	38645057	1,12967	2195	4289	6484	SO:0001583	missense	84951			apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645057T>C	AF417488	AF417488	CCDS11368.1	CCDS11368.1	17q21.2	2013-02-14			2013-02-14			ENSG00000131746	ENSG00000131746	ENSG00000131746	ENSG00000131746		"SH2 domain containing"	"SH2 domain containing"	24352	24352	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"C terminal tensin like"	"C terminal tensin like"	608385	608385						12154022, 12711115	12154022, 12711115	Standard	Standard	NM_032865	NM_032865		Approved	CTEN	uc010cxb.3	uc010cxb.3	Q8IZW8	Q8IZW8	OTTHUMG00000133330	OTTHUMG00000133330	ENST00000254051.6:c.604A>G	17.37:g.38645057T>C	ENSP00000254051:p.Ile202Val			p.I202V	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	762	-		Breast(137;0.000496)	202	Ser-rich.	A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.604A>G	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501552	0.64298	0.0	1.17E-4	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19669	2.13	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.448288	0.16590	N	0.207787	T	0.20780	0.0500	L	0.34521	1.04	0.24227	N	0.995418	D	0.55605	0.972	P	0.49085	0.6	T	0.11542	-1.0583	10	0.20519	T	0.43	-30.3227	9.592	0.39552	0.0:0.0793:0.0:0.9207	.	202	Q8IZW8	TENS4_HUMAN	V	202	ENSP00000254051:I202V	ENSP00000254051:I202V	I	-	1	0	0	TNS4	35898583	35898583	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.385000	0.44371	2.203000	0.70933	0.460000	0.39030	ATC		0.652	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3		66.800435	-15	-15	80	80	NM_032865		23	69.020443	69.020443	50	0.315068	0	0	0	1	0	23	50	0.315068	C	38645057	T	C	38645057	3	2	65	1	0	0	0	0	1	0	0	0	16342	1464	51	4	1587	4	TNS4	17	38645057	Missense_Mutation	SNP	T	TCGA-WC-A87Y-01A-11D-A39W-08	28289533	38645057	42550153	16	1232											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		38.800578	-10	-10	71	71	NM_002067		15	41.691458	41.691458	42	0.263158	0	0	0	1	0	15	42	0.263158	T	3118942	A	T	3118942	3	4	65	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A87Y-01A-11D-A39W-08		3118942	56010041	17	1233											
UBA1	7317	broad.mit.edu	37	X	47060312	47060312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chrX:47060312delC	ENST00000335972.6	+	6	683	c.500delC	c.(499-501)accfs	p.T167fs	UBA1_ENST00000377351.4_Frame_Shift_Del_p.T167fs	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	167	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCACCAACACCCCCCTGGAG	0.622																																						ENST00000335972.6											0			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(499-501)accfs	ubiquitin-like modifier activating enzyme 1						58	44	49					X																	47060312		2201	4295	6496	SO:0001589	frameshift_variant	7317			cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47060312delC	AF258566	AF258566	CCDS14275.1	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	"Ubiquitin-like modifier activating enzymes"	12469	12469	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	1845793	Standard	Standard	NM_153280	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	uc004dhj.4	P22314	P22314	OTTHUMG00000021436	OTTHUMG00000021436	ENST00000335972.6:c.500delC	X.37:g.47060312delC	ENSP00000338413:p.Thr167fs		UBA1_ENST00000377351.4_Frame_Shift_Del_p.T167fs	p.T167fs	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			6	683	+			167	2 approximate repeats.	Q5JRR8|Q96E13	Frame_Shift_Del	DEL	ENST00000335972.6	37	c.500delC	CCDS14275.1																																																																																									0.622	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	.	.	0	0	10	10	NM_003334		2			4	0.33						2	4	0.33	-	47060312	C	-	47060312	7	5	65	1	0	1	0	1	0	0	0	0	16824	507	18	0	518	0	UBA1	23	47060312	Frame_Shift_Del	DEL	C	TCGA-WC-A87Y-01A-11D-A39W-08		47060312	108210248	18	1234											
POLR1B	84172	broad.mit.edu	37	2	113332606	113332606	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr2:113332606C>T	ENST00000263331.5	+	15	3288	c.2708C>T	c.(2707-2709)cCt>cTt	p.P903L	POLR1B_ENST00000409894.3_Missense_Mutation_p.P720L|POLR1B_ENST00000541869.1_Missense_Mutation_p.P941L|POLR1B_ENST00000417433.2_Missense_Mutation_p.P847L|POLR1B_ENST00000537335.1_Missense_Mutation_p.P692L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	903					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GAGGACATGCCTTTTACTGAG	0.502																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5											0			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2707-2709)cCt>cTt	polymerase (RNA) I polypeptide B, 128kDa						139	135	137					2																	113332606		2203	4300	6503	SO:0001583	missense	84172			termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113332606C>T	AK001678	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			2013-01-21			ENSG00000125630	ENSG00000125630	ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	"RNA polymerase subunits"	20454	20454	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602000	602000								Standard	Standard	NM_001137604	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	uc002thw.2	Q9H9Y6	Q9H9Y6	OTTHUMG00000131314	OTTHUMG00000131314	ENST00000263331.5:c.2708C>T	2.37:g.113332606C>T	ENSP00000263331:p.Pro903Leu		POLR1B_ENST00000417433.2_Missense_Mutation_p.P847L|POLR1B_ENST00000541869.1_Missense_Mutation_p.P941L|POLR1B_ENST00000409894.3_Missense_Mutation_p.P720L|POLR1B_ENST00000537335.1_Missense_Mutation_p.P692L	p.P903L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3288	+			903		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.2708C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948577	0.92593	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000458012;ENST00000536096	D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.91	5.91	0.95273	5.91	5.91	0.95273	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	H	0.95884	3.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.98218	1.0476	10	0.72032	D	0.01	-19.2794	19.07	0.93130	0.0:1.0:0.0:0.0	.	941;720;847;903	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	L	903;941;720;692;847;288;262	ENSP00000263331:P903L;ENSP00000444136:P941L;ENSP00000387143:P720L;ENSP00000437914:P692L;ENSP00000405358:P847L;ENSP00000394408:P288L	ENSP00000263331:P903L	P	+	2	0	0	POLR1B	113049077	113049077	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	7.438000	0.80431	2.793000	0.96121	0.655000	0.94253	CCT		0.502	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1		96.377266	-9	-9	101	101	NM_019014		32	97.816508	97.816508	56	0.363636	0	0	0	1	0	32	56	0.363636	T	113332606	C	T	113332606	3	4	66	1	0	0	0	0	1	0	0	0	12210	681	24	3	2766	3	POLR1B	2	113332606	Missense_Mutation	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		113332606	129866767	1	1235											
SPHKAP	80309	broad.mit.edu	37	2	228883588	228883588	+	Missense_Mutation	SNP	T	T	A	rs368321165		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr2:228883588T>A	ENST00000392056.3	-	7	2028	c.1982A>T	c.(1981-1983)aAt>aTt	p.N661I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.N661I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	661						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTGACGACATTTTCTGAGCA	0.443																																						ENST00000392056.3											0			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1981-1983)aAt>aTt	SPHK1 interactor, AKAP domain containing						180	165	170					2																	228883588		2203	4300	6503	SO:0001583	missense	80309				cytoplasm	protein binding	g.chr2:228883588T>A			CCDS33389.1, CCDS46537.1	CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			2010-08-20			ENSG00000153820	ENSG00000153820	ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	"A-kinase anchor proteins"	30619	30619	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	"sphingosine kinase type 1-interacting protein"	611646	611646						12080051, 11214970	12080051, 11214970	Standard	Standard	NM_030623	NM_030623		Approved	SKIP	uc002vpq.2	uc002vpq.2	Q2M3C7	Q2M3C7	OTTHUMG00000153584	OTTHUMG00000153584	ENST00000392056.3:c.1982A>T	2.37:g.228883588T>A	ENSP00000375909:p.Asn661Ile		SPHKAP_ENST00000344657.5_Missense_Mutation_p.N661I	p.N661I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2028	-		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)	661		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1982A>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.954257	0.53293	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.51071	0.72;0.72	5.54	0.14	0.14804	5.54	0.14	0.14804	.	0.616477	0.18172	N	0.149421	T	0.52500	0.1738	M	0.63843	1.955	0.09310	N	1	P;D	0.54397	0.766;0.966	B;P	0.56823	0.174;0.807	T	0.43540	-0.9385	10	0.59425	D	0.04	.	5.6187	0.17446	0.1157:0.2735:0.0:0.6108	.	661;661	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	661	ENSP00000375909:N661I;ENSP00000339886:N661I	ENSP00000339886:N661I	N	-	2	0	0	SPHKAP	228591832	228591832	0.913000	0.31002	0.031000	0.17742	0.988000	0.76386	1.595000	0.36708	-0.124000	0.11724	0.533000	0.62120	AAT		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		241.323817	5	5	171	171	NM_030623		76	241.323817	241.323817	76	0.5	0	0	0	1	0	76	76	0.5	A	228883588	T	A	228883588	3	1	66	1	0	0	0	0	1	0	0	0	15047	1493	52	5	3144	5	SPHKAP	2	228883588	Missense_Mutation	SNP	T	TCGA-WC-A880-01A-11D-A39W-08	115550982	228883588	14315785	2	1236											
PLSCR5	389158	broad.mit.edu	37	3	146309609	146309609	+	Silent	SNP	G	G	C			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr3:146309609G>C	ENST00000443512.1	-	5	1516	c.513C>G	c.(511-513)ccC>ccG	p.P171P	PLSCR5_ENST00000482567.1_Silent_p.P159P|PLSCR5_ENST00000492200.1_Silent_p.P171P|PLSCR5-AS1_ENST00000473817.1_RNA	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	171										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TAGGCAGAAAGGGGTCCCACT	0.378																																						ENST00000443512.1											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(511-513)ccC>ccG	phospholipid scramblase family, member 5						65	61	62					3																	146309609		1840	4097	5937	SO:0001819	synonymous_variant	389158						g.chr3:146309609G>C	AY436642	AY436642	CCDS46931.1	CCDS46931.1	3q24	2004-06-28			2004-06-28			ENSG00000231213	ENSG00000231213	ENSG00000231213	ENSG00000231213				19952	19952	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001085420	NM_001085420		Approved		uc010hvc.3	uc010hvc.3	A0PG75	A0PG75	OTTHUMG00000159437	OTTHUMG00000159437	ENST00000443512.1:c.513C>G	3.37:g.146309609G>C			PLSCR5_ENST00000492200.1_Silent_p.P171P|PLSCR5_ENST00000482567.1_Silent_p.P159P	p.P171P	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN			5	1516	-			171		B2RXK5	Silent	SNP	ENST00000443512.1	37	c.513C>G	CCDS46931.1																																																																																									0.378	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1		29.746800	-2	-2	14	14	XM_371670		10	29.964771	29.964771	15	0.4	0	0	0	1	0	10	15	0.4	C	146309609	G	C	146309609	2	2	66	1	0	0	0	0	0	0	0	1	12113	987	35	5		5	PLSCR5	3	146309609	Silent	SNP	G	TCGA-WC-A880-01A-11D-A39W-08		146309609	51712821	3	1237											
MUC4	4585	broad.mit.edu	37	3	195484122	195484122	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr3:195484122C>T	ENST00000346145.4	-	17	2395	c.2356G>A	c.(2356-2358)Ggc>Agc	p.G786S	MUC4_ENST00000475231.1_Missense_Mutation_p.G4970S|MUC4_ENST00000349607.4_Missense_Mutation_p.G735S|MUC4_ENST00000463781.3_Missense_Mutation_p.G5022S	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1779					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATGCCAAGCCAATCTTGGCA	0.552																																						ENST00000463781.3											0			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(15064-15066)Ggc>Agc	mucin 4, cell surface associated						106	94	98					3																	195484122		2203	4300	6503	SO:0001583	missense	4585			cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195484122C>T	AJ276359	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	ENSG00000145113	ENSG00000145113		"Mucins"	"Mucins"	7514	7514	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			158372	158372	"mucin 4, tracheobronchial"		"mucin 4, tracheobronchial"			1673336	1673336	Standard	Standard	NM_004532	NM_004532		Approved		uc021xjp.1	uc021xjp.1	Q99102	Q99102	OTTHUMG00000151827	OTTHUMG00000151827	ENST00000346145.4:c.2356G>A	3.37:g.195484122C>T	ENSP00000304207:p.Gly786Ser		MUC4_ENST00000475231.1_Missense_Mutation_p.G4970S|MUC4_ENST00000349607.4_Missense_Mutation_p.G735S|MUC4_ENST00000346145.4_Missense_Mutation_p.G786S	p.G5022S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	18	15523	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1779		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.15064G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	9.460	1.092823	0.20471	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.41400	1.0;1.36;1.26;1.32	5.01	0.987	0.19790	5.01	0.987	0.19790	.	1.227080	0.05637	N	0.582679	T	0.20740	0.0499	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;P	0.39352	0.411;0.113;0.113;0.079;0.079;0.669	B;B;B;B;B;B	0.35039	0.194;0.044;0.044;0.031;0.031;0.19	T	0.06588	-1.0818	10	0.06236	T	0.91	-1.0229	6.4887	0.22103	0.0:0.5022:0.0:0.4978	.	4894;735;786;5022;4970;1727	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	S	735;786;5022;4970;1522	ENSP00000338109:G735S;ENSP00000304207:G786S;ENSP00000417498:G5022S;ENSP00000420243:G4970S	ENSP00000304207:G786S	G	-	1	0	0	MUC4	196969793	196969793	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.313000	0.08103	-0.127000	0.11661	0.556000	0.70494	GGC		0.552	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1		77.296999	-14	-14	68	68	NM_018406		24	77.33535	77.33535	27	0.470588	0	0	0	1	0	24	27	0.470588	T	195484122	C	T	195484122	3	4	66	1	0	0	0	0	1	0	0	0	9978	594	21	3	1206	3	MUC4	3	195484122	Missense_Mutation	SNP	C	TCGA-WC-A880-01A-11D-A39W-08	49174513	195484122	2538308	4	1238											
SCLT1	132320	ucsc.edu	37	4	129880901	129880901	+	Silent	SNP	A	A	G			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr4:129880901A>G	ENST00000281142.5	-	12	1404	c.901T>C	c.(901-903)Tta>Cta	p.L301L	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	301					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCGGTTCTTAATTGGTTGGCT	0.363																																																	0																	145	135	139					4																	129880901		2203	4300	6503	SO:0001819	synonymous_variant	132320							AK055217	AK055217	CCDS3740.1	CCDS3740.1	4q28.2	2008-05-02			2008-05-02			ENSG00000151466	ENSG00000151466	ENSG00000151466	ENSG00000151466				26406	26406	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611399	611399						15797711	15797711	Standard	Standard	XM_005262732	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	uc003igp.2	Q96NL6	Q96NL6	OTTHUMG00000133346	OTTHUMG00000133346	ENST00000281142.5:c.901T>C	4.37:g.129880901A>G																		A4QN04|Q0VAH2|Q6P2M4	Silent	SNP	ENST00000281142.5	37		CCDS3740.1																																																																																									0.363	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2			-13	-13	68	68	NM_144643		4			33							4	33		G	129880901	A	G	129880901	2	3	66	1	0	0	0	0	0	0	0	1	13906	98	4	4		4	SCLT1	4	129880901	Silent	SNP	A	TCGA-WC-A880-01A-11D-A39W-08		129880901	61273375	5	1239											
CALD1	800	broad.mit.edu	37	7	134620492	134620492	+	Silent	SNP	C	C	T			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr7:134620492C>T	ENST00000361675.2	+	6	1591	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D	CALD1_ENST00000393118.2_Silent_p.D219D|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Silent_p.D225D|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000422748.1_Silent_p.D225D|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Silent_p.D219D			Q05682	CALD1_HUMAN	caldesmon 1	454					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TCCAAGAAGACAAGCCTACCT	0.368																																						ENST00000361388.2											0			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(673-675)gaC>gaT	caldesmon 1						79	72	75					7																	134620492		2203	4300	6503	SO:0001819	synonymous_variant	800			cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134620492C>T	M64110	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			2007-04-23			ENSG00000122786	ENSG00000122786	ENSG00000122786	ENSG00000122786				1441	1441	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114213	114213						1885618	1885618	Standard	Standard	NM_004342	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	uc003vrz.3	Q05682	Q05682	OTTHUMG00000155407	OTTHUMG00000155407	ENST00000361675.2:c.1362C>T	7.37:g.134620492C>T			CALD1_ENST00000495522.1_Silent_p.D219D|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000422748.1_Silent_p.D225D|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361675.2_Silent_p.D454D|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000393118.2_Silent_p.D219D|CALD1_ENST00000361901.2_Intron	p.D225D	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN			6	1141	+			454		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	c.675C>T	CCDS5835.1																																																																																									0.368	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1		20.921556	5	5	20	20	NM_033138		7	21.037248	21.037248	10	0.411765	0	0	0	1	0	7	10	0.411765	T	134620492	C	T	134620492	2	4	66	1	0	0	0	0	0	0	0	1	2581	477	17	3		3	CALD1	7	134620492	Silent	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		134620492	24518171	6	1240											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		153.725937	-33	-33	79	79	NM_002072		47	153.728276	153.728276	46	0.505376	0	0	0	1	0	47	46	0.505376	A	80409488	T	A	80409488	3	1	66	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-A880-01A-11D-A39W-08		80409488	60803943	7	1241											
TRIM68	55128	broad.mit.edu	37	11	4626372	4626372	+	Missense_Mutation	SNP	G	G	C			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr11:4626372G>C	ENST00000300747.5	-	2	652	c.363C>G	c.(361-363)agC>agG	p.S121R		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	121					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGGGACTGGCTGCAGGCCT	0.552																																						ENST00000300747.5											0			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(361-363)agC>agG	tripartite motif containing 68						117	100	106					11																	4626372		2201	4298	6499	SO:0001583	missense	55128			protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626372G>C	AF360739	AF360739	CCDS31356.1	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	21161	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613184	613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	11597395	Standard	Standard	NM_018073	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	uc001lzf.2	Q6AZZ1	Q6AZZ1			ENST00000300747.5:c.363C>G	11.37:g.4626372G>C	ENSP00000300747:p.Ser121Arg			p.S121R	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	652	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	121		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.363C>G	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.371813	0.01225	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.41758	0.99;0.99	4.67	0.224	0.15297	4.67	0.224	0.15297	Zinc finger, B-box (3);	0.911108	0.09364	N	0.812418	T	0.18718	0.0449	N	0.12611	0.24	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.16289	0.01;0.015	T	0.26052	-1.0114	10	0.14656	T	0.56	.	1.7882	0.03046	0.1864:0.2892:0.3766:0.1477	.	121;121	E9PR29;Q6AZZ1	.;TRI68_HUMAN	R	121	ENSP00000300747:S121R;ENSP00000436112:S121R	ENSP00000300747:S121R	S	-	3	2	2	TRIM68	4582948	4582948	0.000000	0.05858	0.004000	0.12327	0.244000	0.25665	-0.114000	0.10757	-0.044000	0.13491	0.549000	0.68633	AGC		0.552	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1		74.479091	-28	-28	66	66	NM_018073		24	76.24879	76.24879	48	0.333333	0	0	0	1	0	24	48	0.333333	C	4626372	G	C	4626372	3	2	66	1	0	0	0	0	1	0	0	0	16538	1194	42	5	1118	5	TRIM68	11	4626372	Missense_Mutation	SNP	G	TCGA-WC-A880-01A-11D-A39W-08		4626372	130380144	8	1242											
CSPG4	1464	broad.mit.edu	37	15	75977618	75977618	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr15:75977618G>A	ENST00000308508.5	-	4	4306	c.4214C>T	c.(4213-4215)gCc>gTc	p.A1405V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1405	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.			A -> P (in Ref. 1; CAA65529). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTTCTGCAGGGCTCCATGCTG	0.667																																						ENST00000308508.5											0			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(4213-4215)gCc>gTc	chondroitin sulfate proteoglycan 4						32	36	34					15																	75977618		2196	4288	6484	SO:0001583	missense	1464			angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75977618G>A	X96753, AY359468	X96753, AY359468	CCDS10284.1	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546	ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	"Proteoglycans / Cell surface : Other"	2466	2466	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	"melanoma-associated chondroitin sulfate proteoglycan"	601172	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"		"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	8790396, 16407841	Standard	Standard	NM_001897	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	uc002baw.3	Q6UVK1	Q6UVK1	OTTHUMG00000142836	OTTHUMG00000142836	ENST00000308508.5:c.4214C>T	15.37:g.75977618G>A	ENSP00000312506:p.Ala1405Val			p.A1405V	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			4	4306	-			1405	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).	D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.4214C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	2.794	-0.250600	0.05867	.	.	ENSG00000173546	ENST00000308508	T	0.45668	0.89	4.76	2.74	0.32292	4.76	2.74	0.32292	.	0.805243	0.11285	N	0.579940	T	0.33352	0.0860	L	0.51422	1.61	0.32270	N	0.569036	B	0.13145	0.007	B	0.09377	0.004	T	0.35798	-0.9774	10	0.16896	T	0.51	.	7.9412	0.29959	0.0936:0.1614:0.745:0.0	.	1405	Q6UVK1	CSPG4_HUMAN	V	1405	ENSP00000312506:A1405V	ENSP00000312506:A1405V	A	-	2	0	0	CSPG4	73764673	73764673	0.213000	0.23551	0.950000	0.38849	0.069000	0.16628	0.432000	0.21461	1.133000	0.42147	0.505000	0.49811	GCC		0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1		-5.623958	-8	-8	45	45	NM_001897		3	6.430147	6.430147	54	0.052632	0	0	0	1	0	3	54	0.052632	A	75977618	G	A	75977618	3	1	66	1	0	0	0	0	1	0	0	0	3960	1203	42	2	2782	2	CSPG4	15	75977618	Missense_Mutation	SNP	G	TCGA-WC-A880-01A-11D-A39W-08		75977618	26553774	9	1243											
C17orf47	284083	broad.mit.edu	37	17	56620130	56620130	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr17:56620130A>G	ENST00000321691.3	-	1	1599	c.1418T>C	c.(1417-1419)cTg>cCg	p.L473P	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	473										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGAACTTCAGATCCTCACA	0.493																																						ENST00000321691.3											0			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1417-1419)cTg>cCg	chromosome 17 open reading frame 47						207	217	214					17																	56620130		2203	4300	6503	SO:0001583	missense	284083						g.chr17:56620130A>G			CCDS32691.1	CCDS32691.1	17q23.2	2012-10-11			2012-10-11			ENSG00000181013	ENSG00000181013	ENSG00000181013	ENSG00000181013				26844	26844	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001038704	NM_001038704		Approved	FLJ40121	uc002iwq.2	uc002iwq.2	Q8NEP4	Q8NEP4	OTTHUMG00000179244	OTTHUMG00000179244	ENST00000321691.3:c.1418T>C	17.37:g.56620130A>G	ENSP00000354874:p.Leu473Pro		RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.L473P	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN			1	1599	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		473		Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1418T>C	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	A	5.368	0.253205	0.10185	.	.	ENSG00000181013	ENST00000321691	T	0.40225	1.04	5.76	3.53	0.40419	5.76	3.53	0.40419	.	1.197710	0.06144	N	0.672897	T	0.28928	0.0718	N	0.17082	0.46	0.19575	N	0.999965	B	0.32382	0.368	B	0.32677	0.15	T	0.29088	-1.0023	10	0.48119	T	0.1	5.0836	6.0145	0.19594	0.7513:0.1648:0.0839:0.0	.	473	Q8NEP4	CQ047_HUMAN	P	473	ENSP00000354874:L473P	ENSP00000354874:L473P	L	-	2	0	0	C17orf47	53975129	53975129	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	0.883000	0.28200	0.443000	0.26582	-0.466000	0.05196	CTG		0.493	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1		-45.686738	-47	-47	212	212	NM_001038704		4	6.302427	6.302427	197	0.0199	0	0	0	1	0	4	197	0.0199	G	56620130	A	G	56620130	3	3	66	1	0	0	0	0	1	0	0	0	1858	188	7	4	302	4	C17orf47	17	56620130	Missense_Mutation	SNP	A	TCGA-WC-A880-01A-11D-A39W-08		56620130	24575080	10	1244											
NPAS1	4861	broad.mit.edu	37	19	47542770	47542770	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr19:47542770A>T	ENST00000602212.1	+	8	1130	c.910A>T	c.(910-912)Atg>Ttg	p.M304L	NPAS1_ENST00000602189.1_Missense_Mutation_p.M129L|NPAS1_ENST00000439365.2_Missense_Mutation_p.M128L|NPAS1_ENST00000449844.2_Missense_Mutation_p.M304L			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	304	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCATGGACACATGATCGTCTT	0.672																																						ENST00000602212.1											0			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						c.(910-912)Atg>Ttg	neuronal PAS domain protein 1						33	32	33					19																	47542770		2203	4296	6499	SO:0001583	missense	4861			central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr19:47542770A>T	U77968	U77968	CCDS12694.1	CCDS12694.1	19q13.2-q13.3	2013-05-21			2013-05-21				ENSG00000130751		ENSG00000130751		"Basic helix-loop-helix proteins"	"Basic helix-loop-helix proteins"	7894	7894	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"neuronal PAS1", "member of PAS superfamily 5"	"neuronal PAS1", "member of PAS superfamily 5"	603346	603346						9012850, 9079689	9012850, 9079689	Standard	Standard	NM_002517	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	uc002pfy.3	Q99742	Q99742			ENST00000602212.1:c.910A>T	19.37:g.47542770A>T	ENSP00000469142:p.Met304Leu		NPAS1_ENST00000449844.2_Missense_Mutation_p.M304L|NPAS1_ENST00000602189.1_Missense_Mutation_p.M129L|NPAS1_ENST00000439365.2_Missense_Mutation_p.M128L	p.M304L			Q99742	NPAS1_HUMAN		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)	8	1130	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	304	PAS 2.	B4DR69|Q99632|Q9BY83	Missense_Mutation	SNP	ENST00000602212.1	37	c.910A>T	CCDS12694.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580722	0.65992	.	.	ENSG00000130751	ENST00000449844;ENST00000439365	T;T	0.21734	1.99;1.99	4.56	4.56	0.56223	4.56	4.56	0.56223	PAS (1);	0.197400	0.41605	D	0.000853	T	0.22781	0.0550	M	0.68317	2.08	0.44985	D	0.998006	B;B	0.28055	0.033;0.199	B;B	0.23852	0.015;0.049	T	0.04440	-1.0951	10	0.52906	T	0.07	.	10.298	0.43635	1.0:0.0:0.0:0.0	.	128;304	B4DR69;Q99742	.;NPAS1_HUMAN	L	304;128	ENSP00000405290:M304L;ENSP00000398689:M128L	ENSP00000398689:M128L	M	+	1	0	0	NPAS1	52234610	52234610	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.989000	0.70587	1.703000	0.51240	0.459000	0.35465	ATG		0.672	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1		84.254559	-21	-21	32	32	NM_002517		26	84.424875	84.424875	20	0.565217	0	0	0	1	0	26	20	0.565217	T	47542770	A	T	47542770	3	4	66	1	0	0	0	0	1	0	0	0	10562	217	8	5	936	5	NPAS1	19	47542770	Missense_Mutation	SNP	A	TCGA-WC-A880-01A-11D-A39W-08		47542770	11586213	11	1245											
TMC2	117532	broad.mit.edu	37	20	2597933	2597933	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chr20:2597933C>T	ENST00000358864.1	+	16	2171	c.2156C>T	c.(2155-2157)cCc>cTc	p.P719L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	719					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCCTCCCACCCTCCTTTGAC	0.622																																						ENST00000358864.1											0			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2155-2157)cCc>cTc	transmembrane channel-like 2						103	73	84					20																	2597933		2203	4300	6503	SO:0001583	missense	117532				integral to membrane		g.chr20:2597933C>T	AF417580	AF417580	CCDS13029.2	CCDS13029.2	20p13	2010-08-05	2003-02-23		2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488	ENSG00000149488	ENSG00000149488				16527	16527	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606707	606707	"transmembrane, cochlear expressed, 2"	C20orf145	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	11850618, 12906855	Standard	Standard	XM_005260660	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	uc002wgf.1	Q8TDI7	Q8TDI7	OTTHUMG00000031698	OTTHUMG00000031698	ENST00000358864.1:c.2156C>T	20.37:g.2597933C>T	ENSP00000351732:p.Pro719Leu		TMC2_ENST00000496948.1_3'UTR	p.P719L	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			16	2171	+			719		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2156C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011478	0.93346	.	.	ENSG00000149488	ENST00000358864	T	0.74842	-0.88	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.049001	0.85682	N	0.000000	D	0.88074	0.6339	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89780	0.3960	10	0.87932	D	0	-21.2049	16.9454	0.86228	0.0:1.0:0.0:0.0	.	719	Q8TDI7	TMC2_HUMAN	L	719	ENSP00000351732:P719L	ENSP00000351732:P719L	P	+	2	0	0	TMC2	2545933	2545933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.666000	0.90696	0.650000	0.86243	CCC		0.622	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		37.204177	-5	-5	48	48			14	38.514641	38.514641	30	0.318182	0	0	0	1	0	14	30	0.318182	T	2597933	C	T	2597933	3	4	66	1	0	0	0	0	1	0	0	0	15982	623	22	3	2218	3	TMC2	20	2597933	Missense_Mutation	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		2597933	60427587	12	1246											
EIF1AX	1964	broad.mit.edu	37	X	20156740	20156740	+	Splice_Site	SNP	C	C	T			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	g.chrX:20156740C>T	ENST00000379607.5	-	2	220	c.17G>A	c.(16-18)gGt>gAt	p.G6D	EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	6					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ACCTCCTTTACCTGATGGTTT	0.299																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(16-18)gGt>gAt	eukaryotic translation initiation factor 1A, X-linked						130	120	123					X																	20156740		2203	4300	6503	SO:0001630	splice_region_variant	1964				cytosol	translation initiation factor activity	g.chrX:20156740C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.17-1G>A	X.37:g.20156740C>T			EIF1AX_ENST00000379593.1_Intron	p.G6D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	220	-			6		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	SNP	ENST00000379607.5	37	c.17G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689024	0.68271	.	.	ENSG00000173674	ENST00000379607	T	0.45668	0.89	4.84	4.84	0.62591	4.84	4.84	0.62591	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.73885	0.3644	H	0.95780	3.72	0.80722	D	1	D	0.55800	0.973	D	0.63703	0.917	D	0.83652	0.0156	9	0.87932	D	0	.	17.4345	0.87547	0.0:1.0:0.0:0.0	.	6	P47813	IF1AX_HUMAN	D	6	ENSP00000368927:G6D	ENSP00000368927:G6D	G	-	2	0	0	EIF1AX	20066661	20066661	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.237000	0.78164	2.129000	0.65627	0.600000	0.82982	GGT		0.299	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		94.077512	-79	-79	74	74		Missense_Mutation	27	98.716581	98.716581	2	0.931034	0	0	0	1	0	27	2	0.931034	T	20156740	C	T	20156740	5	4	66	1	0	0	0	0	0	0	1	0	4992	521	18	3	441	3	EIF1AX	23	20156740	Splice_Site	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		20156740	135113820	13	1247											
ABCA4	24	broad.mit.edu	37	1	94512515	94512515	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr1:94512515C>T	ENST00000370225.3	-	19	2964	c.2878G>A	c.(2878-2880)Gca>Aca	p.A960T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A886T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	960	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCAGGAATGCGGTGATCTGG	0.537																																						ENST00000370225.3											0			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2878-2880)Gca>Aca	ATP-binding cassette, sub-family A (ABC1), member 4						136	136	136					1																	94512515		2203	4300	6503	SO:0001583	missense	24			phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512515C>T	U88667	U88667	CCDS747.1	CCDS747.1	1p22	2013-01-23			2013-01-23			ENSG00000198691	ENSG00000198691	ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	"ATP binding cassette transporters / subfamily A"	34	34	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Stargardt disease"	"Stargardt disease"	601691	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	9490294	Standard	Standard	NM_000350	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	uc001dqh.3	P78363	P78363	OTTHUMG00000010622	OTTHUMG00000010622	ENST00000370225.3:c.2878G>A	1.37:g.94512515C>T	ENSP00000359245:p.Ala960Thr		ABCA4_ENST00000535735.1_Missense_Mutation_p.A886T	p.A960T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2964	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	960	ABC transporter 1.	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2878G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402280	0.83230	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.94758	-3.51;-3.22	5.48	5.48	0.80851	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.106561	0.64402	D	0.000004	D	0.95723	0.8609	L	0.60455	1.87	0.33502	D	0.59009	D;P	0.76494	0.999;0.923	P;B	0.62184	0.899;0.295	D	0.95837	0.8863	10	0.87932	D	0	.	19.3482	0.94373	0.0:1.0:0.0:0.0	.	886;960	F5H6E5;P78363	.;ABCA4_HUMAN	T	960;886	ENSP00000359245:A960T;ENSP00000437682:A886T	ENSP00000359245:A960T	A	-	1	0	0	ABCA4	94285103	94285103	0.443000	0.25641	0.232000	0.24009	0.964000	0.63967	0.969000	0.29370	2.572000	0.86782	0.655000	0.94253	GCA		0.537	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1		-21.907326	-13	-13	120	120	NM_000350		4	6.325751	6.325751	115	0.033613	0	0	0	1	0	4	115	0.033613	T	94512515	C	T	94512515	3	4	67	1	0	0	0	0	1	0	0	0	34	768	27	1	4071	1	ABCA4	1	94512515	Missense_Mutation	SNP	C	TCGA-WC-A881-01A-12D-A39W-08		94512515	154738106	1	1248											
CELSR2	1952	broad.mit.edu	37	1	109803788	109803788	+	Silent	SNP	G	G	A			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr1:109803788G>A	ENST00000271332.3	+	3	4144	c.4083G>A	c.(4081-4083)gaG>gaA	p.E1361E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1361	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGACTTCGAGAAGCCCTACT	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3											0			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4081-4083)gaG>gaA	cadherin, EGF LAG seven-pass G-type receptor 2						99	97	98					1																	109803788		2203	4300	6503	SO:0001819	synonymous_variant	1952			dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109803788G>A	D87469	D87469	CCDS796.1	CCDS796.1	1p13.3	2014-08-08	2013-02-18		2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	3231	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604265	604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	9693030, 10907856	Standard	Standard	NM_001408	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	uc001dxa.4	Q9HCU4	Q9HCU4	OTTHUMG00000012003	OTTHUMG00000012003	ENST00000271332.3:c.4083G>A	1.37:g.109803788G>A				p.E1361E	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	3	4144	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1361	EGF-like 3; calcium-binding.	Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.4083G>A	CCDS796.1																																																																																									0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		114.303901	-5	-5	91	91	NM_001408		37	114.326909	114.326909	40	0.480519	0	0	0	1	0	37	40	0.480519	A	109803788	G	A	109803788	2	1	67	1	0	0	0	0	0	0	0	1	3222	933	33	3		3	CELSR2	1	109803788	Silent	SNP	G	TCGA-WC-A881-01A-12D-A39W-08	15291273	109803788	139446833	2	1249											
ATAD2B	54454	broad.mit.edu	37	2	24046157	24046160	+	Frame_Shift_Del	DEL	GCAT	GCAT	-			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr2:24046157_24046160delGCAT	ENST00000238789.5	-	16	2442_2445	c.2099_2102delATGC	c.(2098-2103)catgctfs	p.HA700fs	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	700						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTAATTTCAGCATGAGGAAACAC	0.368																																						ENST00000238789.5											0			central_nervous_system(1)	1						c.(2098-2103)catgctfs	ATPase family, AAA domain containing 2B																																			SO:0001589	frameshift_variant	54454					ATP binding|nucleoside-triphosphatase activity	g.chr2:24046157_24046160delGCAT	AB033066	AB033066	CCDS46227.1	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	"ATPases / AAA-type"	29230	29230	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615347	615347								Standard	Standard	XM_005264372	XM_005264372		Approved	KIAA1240	uc002rek.4	uc002rek.4	Q9ULI0	Q9ULI0	OTTHUMG00000151902	OTTHUMG00000151902	ENST00000238789.5:c.2099_2102delATGC	2.37:g.24046157_24046160delGCAT	ENSP00000238789:p.His700fs		ATAD2B_ENST00000474583.1_5'UTR	p.HA700fs	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			16	2442_2445	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		700		B9ZVQ5|Q6ZNA6|Q8N9E7	Frame_Shift_Del	DEL	ENST00000238789.5	37	c.2099_2102delATGC	CCDS46227.1																																																																																									0.368	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	.	.	4	4	29	29	NM_017552		14			12	0.54						14	12	0.54	-	24046160	GCAT	-	24046157	7	5	67	1	0	1	0	1	0	0	0	0	1072	971	34	0	2326	0	ATAD2B	2	24046157	Frame_Shift_Del	DEL	GCAT	TCGA-WC-A881-01A-12D-A39W-08		24046157	219153216	3	1250											
SF3B1	23451	broad.mit.edu	37	2	198267372	198267372	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr2:198267372T>C	ENST00000335508.6	-	14	2076	c.1985A>G	c.(1984-1986)cAc>cGc	p.H662R	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	662					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AATACCAGTGTGTCTCGCTTG	0.428			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	0			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1984-1986)cAc>cGc	splicing factor 3b, subunit 1, 155kDa						122	121	121					2																	198267372		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267372T>C	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1985A>G	2.37:g.198267372T>C	ENSP00000335321:p.His662Arg			p.H662R	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2076	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1985A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614325	0.87359	.	.	ENSG00000115524	ENST00000335508	T	0.63417	-0.04	5.68	5.68	0.88126	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90385	0.4391	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	662	O75533	SF3B1_HUMAN	R	662	ENSP00000335321:H662R	ENSP00000335321:H662R	H	-	2	0	0	SF3B1	197975617	197975617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	CAC		0.428	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		91.374048	15	15	78	78			29	91.377834	91.377834	28	0.508772	0	0	0	1	0	29	28	0.508772	C	198267372	T	C	198267372	3	2	67	1	0	0	0	0	1	0	0	0	14149	1696	59	4	1977	4	SF3B1	2	198267372	Missense_Mutation	SNP	T	TCGA-WC-A881-01A-12D-A39W-08	174221215	198267372	44932001	4	1251											
TF	7018	broad.mit.edu	37	3	133473498	133473498	+	Missense_Mutation	SNP	G	G	A	rs371174384		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr3:133473498G>A	ENST00000402696.3	+	4	970	c.485G>A	c.(484-486)cGt>cAt	p.R162H	TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.R35H|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	162	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CCTGAGCCACGTAAACCTCTT	0.567																																						ENST00000402696.3											0			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(484-486)cGt>cAt	transferrin	G	HIS/ARG	0,4406		0,0,2203	138	138	138		485	-0.1	0	3		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	TF	NM_001063.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	162/699	133473498	1,13005	2203	4300	6503	SO:0001583	missense	7018			cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133473498G>A			CCDS3080.1	CCDS3080.1	3q21	2012-10-02			2012-10-02			ENSG00000091513	ENSG00000091513	ENSG00000091513	ENSG00000091513				11740	11740	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			190000	190000						6585826	6585826	Standard	Standard	NM_001063	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	uc003epv.2	P02787	P02787	OTTHUMG00000150356	OTTHUMG00000150356	ENST00000402696.3:c.485G>A	3.37:g.133473498G>A	ENSP00000385834:p.Arg162His		TF_ENST00000264998.3_Missense_Mutation_p.R35H|TF_ENST00000475382.1_3'UTR	p.R162H	NM_001063.3	NP_001054	P02787	TRFE_HUMAN			4	970	+			162	Transferrin-like 1.	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.485G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184348	0.57800	0.0	1.16E-4	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.34275	1.37;1.37;1.37	5.25	-0.0568	0.13803	5.25	-0.0568	0.13803	.	0.694749	0.15001	N	0.286124	T	0.35913	0.0948	M	0.81802	2.56	0.09310	N	0.999999	B	0.19583	0.037	B	0.17433	0.018	T	0.33854	-0.9852	10	0.45353	T	0.12	-1.2792	6.9194	0.24378	0.1599:0.1833:0.6568:0.0	.	162	P02787	TRFE_HUMAN	H	162;35;35	ENSP00000385834:R162H;ENSP00000419338:R35H;ENSP00000264998:R35H	ENSP00000264998:R35H	R	+	2	0	0	TF	134956188	134956188	0.002000	0.14202	0.049000	0.19019	0.950000	0.60333	0.239000	0.18023	0.092000	0.17331	0.561000	0.74099	CGT		0.567	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1		162.572708	-12	-12	165	165	NM_001063		53	162.590468	162.590468	56	0.486239	0	0	0	1	0	53	56	0.486239	A	133473498	G	A	133473498	3	1	67	1	0	0	0	0	1	0	0	0	15782	1145	40	1	499	1	TF	3	133473498	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		133473498	64548932	5	1252											
SLIT2	9353	broad.mit.edu	37	4	20255451	20255451	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr4:20255451G>T	ENST00000504154.1	+	1	265	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	SLIT2_ENST00000273739.5_Missense_Mutation_p.G5C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G5C|SLIT2_ENST00000503823.1_Missense_Mutation_p.G5C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	5					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCGCGGCGTTGGCTGGCAGAT	0.667																																						ENST00000504154.1											0			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(13-15)Ggc>Tgc	slit homolog 2 (Drosophila)						90	72	78					4																	20255451		2203	4299	6502	SO:0001583	missense	9353			apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20255451G>T	AF055585	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147	ENSG00000145147	ENSG00000145147				11086	11086	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603746	603746	"slit (Drosophila) homolog 2"	SLIL3	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	9813312, 18269211	Standard	Standard	XM_005248211	XM_005248211		Approved	Slit-2	uc003gpr.1	uc003gpr.1	O94813	O94813	OTTHUMG00000128551	OTTHUMG00000128551	ENST00000504154.1:c.13G>T	4.37:g.20255451G>T	ENSP00000422591:p.Gly5Cys		SLIT2_ENST00000503823.1_Missense_Mutation_p.G5C|SLIT2_ENST00000273739.5_Missense_Mutation_p.G5C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G5C	p.G5C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			1	265	+			5		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.13G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893381	0.72524	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81247	-1.46;-1.47;-1.38;-1.43	3.99	3.14	0.36123	3.99	3.14	0.36123	.	0.390725	0.24889	N	0.034796	T	0.81148	0.4762	L	0.36672	1.1	0.28435	N	0.917068	D;D	0.63046	0.992;0.986	P;P	0.61003	0.882;0.766	T	0.74213	-0.3738	10	0.87932	D	0	.	9.4262	0.38581	0.1069:0.0:0.8931:0.0	.	5;5	O94813-3;O94813	.;SLIT2_HUMAN	C	5	ENSP00000427548:G5C;ENSP00000422591:G5C;ENSP00000273739:G5C;ENSP00000422261:G5C	ENSP00000273739:G5C	G	+	1	0	0	SLIT2	19864549	19864549	1.000000	0.71417	0.838000	0.33150	0.816000	0.46133	4.448000	0.60027	1.023000	0.39654	0.313000	0.20887	GGC		0.667	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		102.039550	2	2	76	76			34	102.223008	102.223008	42	0.447368	1	0	8.16277e-20	1	8.53381e-20	34	42	0.447368	T	20255451	G	T	20255451	3	4	67	1	0	0	0	0	1	0	0	0	14740	1348	47	5	15	5	SLIT2	4	20255451	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		20255451	170898825	6	1253											
FOXC1	2296	broad.mit.edu	37	6	1612302	1612302	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:1612302G>A	ENST00000380874.2	+	1	1622	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	541					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TCTCTGTACCGCACGTCCGGA	0.512																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2											0			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(1621-1623)cGc>cAc	forkhead box C1						87	76	80					6																	1612302		2203	4300	6503	SO:0001583	missense	2296			anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1612302G>A	AF048693	AF048693	CCDS4473.1	CCDS4473.1	6p25	2008-04-10			2008-04-10			ENSG00000054598	ENSG00000054598	ENSG00000054598	ENSG00000054598		"Forkhead boxes"	"Forkhead boxes"	3800	3800	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601090	601090		FKHL7, IRID1		FKHL7, IRID1		7957066, 9620769	7957066, 9620769	Standard	Standard	NM_001453	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	uc003mtp.3	Q12948	Q12948	OTTHUMG00000016182	OTTHUMG00000016182	ENST00000380874.2:c.1622G>A	6.37:g.1612302G>A	ENSP00000370256:p.Arg541His			p.R541H	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1622	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	541		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.1622G>A	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293132	0.80914	.	.	ENSG00000054598	ENST00000380874	D	0.83335	-1.71	3.74	3.74	0.42951	3.74	3.74	0.42951	.	0.000000	0.64402	U	0.000004	T	0.81278	0.4789	L	0.41492	1.28	0.58432	D	0.999998	D	0.71674	0.998	P	0.57324	0.818	D	0.84583	0.0662	10	0.87932	D	0	.	15.3353	0.74247	0.0:0.0:1.0:0.0	.	541	Q12948	FOXC1_HUMAN	H	541	ENSP00000370256:R541H	ENSP00000370256:R541H	R	+	2	0	0	FOXC1	1557301	1557301	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.107000	0.71517	1.941000	0.56285	0.448000	0.29417	CGC		0.512	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1		-4.619956	-18	-18	50	50			3	6.602376	6.602376	51	0.055556	0	0	0	1	0	3	51	0.055556	A	1612302	G	A	1612302	3	1	67	1	0	0	0	0	1	0	0	0	5994	1087	38	1	1624	1	FOXC1	6	1612302	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		1612302	169502765	7	1254											
C6orf27	80737	broad.mit.edu	37	6	31736929	31736929	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:31736929G>A	ENST00000375688.4	-	10	1569	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R457C|VWA7_ENST00000375686.3_Missense_Mutation_p.R457C			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	457	VWFA.					extracellular region (GO:0005576)											AAGATCTCACGCCGAGCTCGA	0.537																																						ENST00000375686.3											0										c.(1369-1371)Cgt>Tgt	von Willebrand factor A domain containing 7						158	110	128					6																	31736929		1511	2709	4220	SO:0001583	missense	80737				extracellular region		g.chr6:31736929G>A			CCDS4721.2	CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396	ENSG00000204396	ENSG00000204396				13939	13939	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609693	609693	"chromosome 6 open reading frame 27"	C6orf27	"chromosome 6 open reading frame 27"	C6orf27				Standard	Standard	NM_025258	NM_025258		Approved	G7c, NG37	uc011dog.2	uc011dog.2	Q9Y334	Q9Y334	OTTHUMG00000031132	OTTHUMG00000031132	ENST00000375688.4:c.1369C>T	6.37:g.31736929G>A	ENSP00000364840:p.Arg457Cys		VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R457C|VWA7_ENST00000375688.4_Missense_Mutation_p.R457C	p.R457C	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			10	1606	-			457		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1369C>T	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016370	0.35606	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.37235	2.4;2.2;1.21	5.65	3.69	0.42338	5.65	3.69	0.42338	von Willebrand factor, type A (1);	0.053832	0.64402	N	0.000002	T	0.44561	0.1299	M	0.76574	2.34	0.33305	D	0.565278	D	0.89917	1.0	D	0.87578	0.998	T	0.51371	-0.8714	10	0.72032	D	0.01	-4.633	7.9599	0.30066	0.0873:0.0:0.6873:0.2254	.	457	Q9Y334	G7C_HUMAN	C	457	ENSP00000364840:R457C;ENSP00000364838:R457C;ENSP00000390554:R457C	ENSP00000364838:R457C	R	-	1	0	0	C6orf27	31844908	31844908	0.991000	0.36638	0.865000	0.33974	0.094000	0.18550	2.377000	0.44300	1.399000	0.46721	-0.379000	0.06801	CGT		0.537	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2		33.083530	12	12	67	67	NM_025258		12	34.969895	34.969895	31	0.27907	0	0	0	1	0	12	31	0.27907	A	31736929	G	A	31736929	3	1	67	1	0	0	0	0	1	0	0	0	2362	1087	38	1	1337	1	C6orf27	6	31736929	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08	30124627	31736929	139378138	8	1255											
PPP2R5D	5528	broad.mit.edu	37	6	42978205	42978205	+	Splice_Site	SNP	G	G	C			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:42978205G>C	ENST00000485511.1	+	13	1558		c.e13-1		PPP2R5D_ENST00000461010.1_Splice_Site|PPP2R5D_ENST00000394110.3_Splice_Site|PPP2R5D_ENST00000472118.1_Splice_Site	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta						carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTGGTGGCAGGACAATCCAT	0.463																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1											0			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.e13-1	protein phosphatase 2, regulatory subunit B', delta						102	96	98					6																	42978205		2203	4300	6503	SO:0001630	splice_region_variant	5528			nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42978205G>C	L76702	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640	ENSG00000112640	ENSG00000112640		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9312	9312	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601646	601646	"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"		"protein phosphatase 2, regulatory subunit B (B56), delta isoform", "protein phosphatase 2, regulatory subunit B', delta isoform"			7592815	7592815	Standard	Standard	NM_006245	NM_006245		Approved	B56D	uc003oth.4	uc003oth.4	Q14738	Q14738	OTTHUMG00000014716	OTTHUMG00000014716	ENST00000485511.1:c.1380-1G>C	6.37:g.42978205G>C			PPP2R5D_ENST00000394110.3_Splice_Site|PPP2R5D_ENST00000461010.1_Splice_Site|PPP2R5D_ENST00000472118.1_Splice_Site		NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		13	1558	+					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Splice_Site	SNP	ENST00000485511.1	37		CCDS4878.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378693	0.82682	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010;ENST00000470467;ENST00000486843	.	.	.	4.86	4.86	0.63082	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1922	0.89810	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	PPP2R5D	43086183	43086183	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.657000	0.98554	2.525000	0.85131	0.655000	0.94253	.		0.463	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3		46.430792	-18	-18	59	59	NM_006245	Intron	18	49.994638	49.994638	51	0.26087	0	0	0	1	0	18	51	0.26087	C	42978205	G	C	42978205	5	2	67	1	0	0	0	0	0	0	1	0	12395	1014	35	5	1429	5	PPP2R5D	6	42978205	Splice_Site	SNP	G	TCGA-WC-A881-01A-12D-A39W-08	11241276	42978205	128136862	9	1256											
C11orf80	79703	broad.mit.edu	37	11	66568126	66568126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr11:66568126delC	ENST00000360962.4	+	7	739	c.732delC	c.(730-732)ttcfs	p.F244fs	C11orf80_ENST00000540737.1_Frame_Shift_Del_p.F78fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.F25fs|C11orf80_ENST00000527634.1_Frame_Shift_Del_p.F25fs	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	244										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GATTTCATTTCAGTGTAAAGG	0.358																																						ENST00000360962.4											0			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(730-732)ttcfs	chromosome 11 open reading frame 80						102	90	93					11																	66568126		1820	4073	5893	SO:0001589	frameshift_variant	79703						g.chr11:66568126delC					11q13.2	2012-05-30			2012-05-30			ENSG00000173715	ENSG00000173715	ENSG00000173715	ENSG00000173715				26197	26197	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										18160775	18160775	Standard	Standard	NM_024650	NM_024650		Approved	FLJ22531	uc021qmd.1	uc021qmd.1	Q8N6T0	Q8N6T0	OTTHUMG00000167164	OTTHUMG00000167164	ENST00000360962.4:c.732delC	11.37:g.66568126delC	ENSP00000354227:p.Phe244fs		C11orf80_ENST00000527634.1_Frame_Shift_Del_p.F25fs|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000540737.1_Frame_Shift_Del_p.F78fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.F25fs	p.F244fs	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN			7	739	+			89		Q9H677	Frame_Shift_Del	DEL	ENST00000360962.4	37	c.732delC	CCDS53664.1																																																																																									0.358	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		.	.	-8	-8	5	5	NM_024650		2			4	0.33						2	4	0.33	-	66568126	C	-	66568126	7	5	67	1	0	1	0	1	0	0	0	0	1664	825	29	0	758	0	C11orf80	11	66568126	Frame_Shift_Del	DEL	C	TCGA-WC-A881-01A-12D-A39W-08		66568126	68438390	10	1257											
TRIM29	23650	broad.mit.edu	37	11	119996547	119996547	+	Silent	SNP	G	G	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr11:119996547G>T	ENST00000341846.5	-	4	1606	c.1185C>A	c.(1183-1185)acC>acA	p.T395T	TRIM29_ENST00000541857.1_Silent_p.T128T|TRIM29_ENST00000524816.3_5'Flank|TRIM29_ENST00000529044.1_Silent_p.T134T|TRIM29_ENST00000528870.1_5'Flank	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	395					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGACATGATAGGTGGGCAGGG	0.522																																						ENST00000341846.5											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(1183-1185)acC>acA	tripartite motif containing 29						68	62	64					11																	119996547		2199	4295	6494	SO:0001819	synonymous_variant	23650			transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119996547G>T	AF230388	AF230388	CCDS8428.1	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699	ENSG00000137699	ENSG00000137699		"Tripartite motif containing / Tripartite motif containing"	"Tripartite motif containing / Tripartite motif containing"	17274	17274	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	"tripartite motif protein TRIM29", "ataxia-telangiectasia group D-associated protein"	610658	610658	"tripartite motif-containing 29"		"tripartite motif-containing 29"			11331580	11331580	Standard	Standard	NM_012101	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	uc001pwz.3	Q14134	Q14134	OTTHUMG00000140377	OTTHUMG00000140377	ENST00000341846.5:c.1185C>A	11.37:g.119996547G>T			TRIM29_ENST00000541857.1_Silent_p.T128T|TRIM29_ENST00000529044.1_Silent_p.T134T	p.T395T	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	4	1606	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	395		Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.1185C>A	CCDS8428.1																																																																																									0.522	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2		70.541587	3	3	59	59	NM_012101		22	70.627444	70.627444	18	0.55	1	0	4.26978e-12	1	4.26978e-12	22	18	0.55	T	119996547	G	T	119996547	2	4	67	1	0	0	0	0	0	0	0	1	16500	987	35	5		5	TRIM29	11	119996547	Silent	SNP	G	TCGA-WC-A881-01A-12D-A39W-08	53428421	119996547	15009969	11	1258											
DCUN1D2	55208	broad.mit.edu	37	13	114115432	114115432	+	Silent	SNP	C	C	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr13:114115432C>T	ENST00000478244.1	-	5	822	c.540G>A	c.(538-540)gcG>gcA	p.A180A	DCUN1D2_ENST00000332592.3_Silent_p.A47A	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	180	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			ATTTCCAATACGCAACAGCCA	0.383																																						ENST00000332592.3											0			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7						c.(139-141)gcG>gcA	DCN1, defective in cullin neddylation 1, domain containing 2						100	101	101					13																	114115432		2202	4300	6502	SO:0001819	synonymous_variant	55208						g.chr13:114115432C>T	AK001566	AK001566	CCDS32013.1	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401	ENSG00000150401	ENSG00000150401				20328	20328	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 13 open reading frame 17", "DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"	C13orf17	"chromosome 13 open reading frame 17", "DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"	C13orf17		15988528	15988528	Standard	Standard	XM_005268320	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	uc001vtr.1	Q6PH85	Q6PH85	OTTHUMG00000017390	OTTHUMG00000017390	ENST00000478244.1:c.540G>A	13.37:g.114115432C>T			DCUN1D2_ENST00000478244.1_Silent_p.A180A	p.A47A			Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		3	175	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	180		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Silent	SNP	ENST00000478244.1	37	c.141G>A	CCDS32013.1																																																																																									0.383	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4		43.046442	5	5	56	56	NM_018185		14	43.109638	43.109638	17	0.451613	0	0	0	1	0	14	17	0.451613	T	114115432	C	T	114115432	2	4	67	1	0	0	0	0	0	0	0	1	4314	523	19	1		1	DCUN1D2	13	114115432	Silent	SNP	C	TCGA-WC-A881-01A-12D-A39W-08		114115432	1054446	12	1259											
TRPM7	54822	ucsc.edu	37	15	50950010	50950010	+	Silent	SNP	A	A	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr15:50950010A>T	ENST00000313478.7	-	3	371	c.90T>A	c.(88-90)ctT>ctA	p.L30L	TRPM7_ENST00000560955.1_Silent_p.L30L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	30					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GACATCCTGGAAGGCATCTAT	0.254																																																	0																	53	48	50					15																	50950010		1790	4064	5854	SO:0001819	synonymous_variant	54822							AF346629	AF346629	CCDS42035.1, CCDS73725.1	CCDS42035.1, CCDS73725.1	15q21	2011-12-14			2011-12-14				ENSG00000092439		ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	17994	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605692	605692						11161216, 11385574, 16382100	11161216, 11385574, 16382100	Standard	Standard	XM_005254486	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	uc001zyt.4	Q96QT4	Q96QT4			ENST00000313478.7:c.90T>A	15.37:g.50950010A>T																		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	ENST00000313478.7	37		CCDS42035.1																																																																																									0.254	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1			-27	-27	39	39	NM_017672		4			31							4	31		T	50950010	A	T	50950010	2	4	67	1	0	0	0	0	0	0	0	1	16588	233	9	5		5	TRPM7	15	50950010	Silent	SNP	A	TCGA-WC-A881-01A-12D-A39W-08		50950010	51581382	13	1260											
PPL	5493	broad.mit.edu	37	16	4935851	4935851	+	Missense_Mutation	SNP	C	C	G	rs562326612		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr16:4935851C>G	ENST00000345988.2	-	22	2894	c.2805G>C	c.(2803-2805)aaG>aaC	p.K935N	PPL_ENST00000590782.2_Missense_Mutation_p.K933N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	935					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGAGCACCTCCTTCCTCACCA	0.612																																						ENST00000345988.2											0			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(2803-2805)aaG>aaC	periplakin						95	101	99					16																	4935851		2197	4300	6497	SO:0001583	missense	5493			keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935851C>G	AF013717	AF013717	CCDS10526.1	CCDS10526.1	16p13.3	2008-02-05			2008-02-05			ENSG00000118898	ENSG00000118898	ENSG00000118898	ENSG00000118898				9273	9273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602871	602871						9570964, 9521878	9570964, 9521878	Standard	Standard	NM_002705	NM_002705		Approved		uc002cyd.1	uc002cyd.1	O60437	O60437	OTTHUMG00000129528	OTTHUMG00000129528	ENST00000345988.2:c.2805G>C	16.37:g.4935851C>G	ENSP00000340510:p.Lys935Asn		PPL_ENST00000590782.2_Missense_Mutation_p.K933N	p.K935N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN			22	2894	-			935		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2805G>C	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131558	0.37630	.	.	ENSG00000118898	ENST00000345988	T	0.60424	0.19	5.2	2.87	0.33458	5.2	2.87	0.33458	.	0.114864	0.64402	D	0.000020	T	0.58148	0.2102	M	0.71581	2.175	0.46185	D	0.998919	P	0.46706	0.883	B	0.44224	0.444	T	0.62992	-0.6736	10	0.46703	T	0.11	.	12.2294	0.54478	0.0:0.7816:0.0:0.2184	.	935	O60437	PEPL_HUMAN	N	935	ENSP00000340510:K935N	ENSP00000340510:K935N	K	-	3	2	2	PPL	4875852	4875852	1.000000	0.71417	0.991000	0.47740	0.484000	0.33280	2.000000	0.40816	1.199000	0.43173	0.555000	0.69702	AAG		0.612	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		124.051940	-27	-27	124	124	NM_002705		38	124.10009	124.10009	34	0.527778	0	0	0	1	0	38	34	0.527778	G	4935851	C	G	4935851	3	3	67	1	0	0	0	0	1	0	0	0	12334	680	24	5	2469	5	PPL	16	4935851	Missense_Mutation	SNP	C	TCGA-WC-A881-01A-12D-A39W-08		4935851	85418902	14	1261											
CDR2L	30850	broad.mit.edu	37	17	72997556	72997556	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr17:72997556A>G	ENST00000337231.5	+	3	725	c.313A>G	c.(313-315)Agt>Ggt	p.S105G		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	105												all_lung(278;0.226)					GGTGCTGGAGAGTAAGGCTGC	0.667																																						ENST00000337231.5											0										c.(313-315)Agt>Ggt	cerebellar degeneration-related protein 2-like						34	25	28					17																	72997556		2200	4291	6491	SO:0001583	missense	30850						g.chr17:72997556A>G			CCDS11710.2	CCDS11710.2	17q25.1	2006-03-28			2006-03-28			ENSG00000109089	ENSG00000109089	ENSG00000109089	ENSG00000109089				29999	29999	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"paraneoplastic antigen"	"paraneoplastic antigen"										Standard	Standard	NM_014603	NM_014603		Approved	HUMPPA	uc002jml.4	uc002jml.4	Q86X02	Q86X02	OTTHUMG00000150435	OTTHUMG00000150435	ENST00000337231.5:c.313A>G	17.37:g.72997556A>G	ENSP00000336587:p.Ser105Gly			p.S105G	NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN			3	725	+	all_lung(278;0.226)		105		B4DFA7|Q15175	Missense_Mutation	SNP	ENST00000337231.5	37	c.313A>G	CCDS11710.2	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724429	0.89298	.	.	ENSG00000109089	ENST00000337231	T	0.49432	0.78	5.08	5.08	0.68730	5.08	5.08	0.68730	.	0.039313	0.85682	D	0.000000	T	0.56062	0.1960	M	0.81942	2.565	0.45979	D	0.998799	P	0.50443	0.935	P	0.45639	0.488	T	0.62544	-0.6832	10	0.42905	T	0.14	-8.4286	15.1448	0.72641	1.0:0.0:0.0:0.0	.	105	Q86X02	CDR2L_HUMAN	G	105	ENSP00000336587:S105G	ENSP00000336587:S105G	S	+	1	0	0	CDR2L	70509151	70509151	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.526000	0.81920	2.032000	0.59987	0.477000	0.44152	AGT		0.667	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1		7.016368	7	7	16	16	NM_014603		3	7.240599	7.240599	6	0.333333	0	0	0	1	0	3	6	0.333333	G	72997556	A	G	72997556	3	3	67	1	0	0	0	0	1	0	0	0	3173	304	11	4	323	4	CDR2L	17	72997556	Missense_Mutation	SNP	A	TCGA-WC-A881-01A-12D-A39W-08		72997556	8197654	15	1262											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		63.300677	-3	-3	78	78	NM_002067		20	63.306255	63.306255	19	0.512821	0	0	0	1	0	20	19	0.512821	T	3118942	A	T	3118942	3	4	67	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A881-01A-12D-A39W-08		3118942	56010041	16	1263											
CLEC4M	10332	broad.mit.edu	37	19	7833752	7833752	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr19:7833752C>T	ENST00000327325.5	+	7	1196	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	360	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGTGGAGAACCCAACAATAG	0.512																																						ENST00000327325.5											0			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1078-1080)Ccc>Tcc	C-type lectin domain family 4, member M						165	152	157					19																	7833752		2203	4300	6503	SO:0001583	missense	10332			cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7833752C>T	AB015629	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		ENSG00000104938		"C-type lectin domain containing", "CD molecules"	"C-type lectin domain containing", "CD molecules"	13523	13523	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605872	605872	"CD299 antigen"	CD209L, CD299	"CD299 antigen"	CD209L, CD299		10072769	10072769	Standard	Standard	NM_001144904	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	uc010dvt.3	Q9H2X3	Q9H2X3			ENST00000327325.5:c.1078C>T	19.37:g.7833752C>T	ENSP00000316228:p.Pro360Ser		CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I	p.P360S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN			7	1196	+			360	C-type lectin.	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.1078C>T	CCDS12187.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.36|14.36	2.511621|2.511621	0.44660|0.44660	.|.	.|.	ENSG00000104938|ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059|ENST00000357361	T;T;T;T;T|T	0.70631|0.03358	-0.5;-0.5;-0.5;-0.5;-0.5|3.96	2.46|2.46	2.46|2.46	0.29980|0.29980	2.46|2.46	2.46|2.46	0.29980|0.29980	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	.|.	.|.	.|.	.|.	T|T	0.03915|0.03915	0.0110|0.0110	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D|B;B	0.89917|0.23735	0.996;0.999;1.0;1.0;1.0;0.999|0.09;0.062	D;D;D;D;D;D|B;B	0.97110|0.23716	0.968;0.991;1.0;1.0;0.997;0.991|0.048;0.03	T|T	0.33111|0.33111	-0.9881|-0.9881	8|8	0.87932|0.87932	D|D	0|0	.|.	8.5871|8.5871	0.33664|0.33664	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309;293;360;348;337;224|294;230	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7|Q9H2X3-9;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.|.;.	S|I	360;348;338;309;293|322	ENSP00000316228:P360S;ENSP00000377680:P348S;ENSP00000248228:P338S;ENSP00000335228:P309S;ENSP00000351954:P293S|ENSP00000349924:T322I	ENSP00000248228:P338S|ENSP00000349924:T322I	P|T	+|+	1|2	0|0	0|0	CLEC4M|CLEC4M	7739752|7739752	7739752|7739752	0.699000|0.699000	0.27786|0.27786	0.209000|0.209000	0.23619|0.23619	0.004000|0.004000	0.04260|0.04260	2.972000|2.972000	0.49256|0.49256	1.700000|1.700000	0.51204|0.51204	0.306000|0.306000	0.20318|0.20318	CCC|ACC		0.512	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1		57.548611	4	4	96	96	NM_014257		18	57.554492	57.554492	19	0.486486	0	0	0	1	0	18	19	0.486486	T	7833752	C	T	7833752	3	4	67	1	0	0	0	0	1	0	0	0	3518	507	18	3	1125	3	CLEC4M	19	7833752	Missense_Mutation	SNP	C	TCGA-WC-A881-01A-12D-A39W-08	4714810	7833752	51295231	17	1264											
ALDH9A1	223	broad.mit.edu	37	1	165664619	165664619	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:165664619G>A	ENST00000354775.4	-	2	501	c.197C>T	c.(196-198)aCt>aTt	p.T66I	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	42					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACATGTGAAAGTAGCTATCAC	0.348																																					Ovarian(179;1583 2014 18106 33801 42447)	ENST00000354775.4											0			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(196-198)aCt>aTt	aldehyde dehydrogenase 9 family, member A1						92	92	92					1																	165664619		2203	4300	6503	SO:0001583	missense	223			carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165664619G>A	U34252	U34252	CCDS1250.2	CCDS1250.2	1q22-q23	2008-02-05			2008-02-05			ENSG00000143149	ENSG00000143149	ENSG00000143149	ENSG00000143149		"Aldehyde dehydrogenases"	"Aldehyde dehydrogenases"	412	412	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602733	602733		ALDH7, ALDH4, ALDH9		ALDH7, ALDH4, ALDH9		8112751, 8786138	8112751, 8786138	Standard	Standard	NM_000696	NM_000696		Approved	E3	uc001gdh.1	uc001gdh.1	P49189	P49189	OTTHUMG00000034677	OTTHUMG00000034677	ENST00000354775.4:c.197C>T	1.37:g.165664619G>A	ENSP00000346827:p.Thr66Ile		ALDH9A1_ENST00000538148.1_5'UTR|ALDH9A1_ENST00000461664.1_5'UTR	p.T66I	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN			2	501	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		42		B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	c.197C>T	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118569	0.37436	.	.	ENSG00000143149	ENST00000354775	T	0.77358	-1.09	5.44	3.46	0.39613	5.44	3.46	0.39613	.	0.387023	0.31963	N	0.006792	T	0.60077	0.2241	L	0.59912	1.85	0.35257	D	0.779200	B;B	0.33964	0.307;0.434	B;B	0.36766	0.178;0.232	T	0.60156	-0.7318	9	0.40728	T	0.16	.	8.7029	0.34336	0.0845:0.1529:0.7626:0.0	.	56;66	B4DX14;B9EKV4	.;.	I	66	ENSP00000346827:T66I	ENSP00000346827:T66I	T	-	2	0	0	ALDH9A1	163931243	163931243	1.000000	0.71417	0.983000	0.44433	0.787000	0.44495	1.991000	0.40727	1.295000	0.44724	-0.140000	0.14226	ACT		0.348	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1		-8.332935	-14	-14	93	93			3	6.514201	6.514201	64	0.044776	0	0	0	1	0	3	64	0.044776	A	165664619	G	A	165664619	3	1	68	1	0	0	0	0	1	0	0	0	506	1029	36	3	1399	3	ALDH9A1	1	165664619	Missense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08		165664619	83586002	1	1265											
F5	2153	broad.mit.edu	37	1	169519912	169519912	+	Silent	SNP	A	A	C			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr1:169519912A>C	ENST00000367797.3	-	9	1563	c.1362T>G	c.(1360-1362)ccT>ccG	p.P454P	F5_ENST00000367796.3_Silent_p.P454P|F5_ENST00000546081.1_Silent_p.P317P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	454	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CATCTTCATAAGGCGAGAAGG	0.393																																						ENST00000367796.3											0			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1360-1362)ccT>ccG	coagulation factor V (proaccelerin, labile factor)						99	97	97					1																	169519912		2203	4300	6503	SO:0001819	synonymous_variant	2153			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519912A>C	M14335	M14335	CCDS1281.1	CCDS1281.1	1q23	2012-10-02			2012-10-02			ENSG00000198734	ENSG00000198734	ENSG00000198734	ENSG00000198734				3542	3542	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612309	612309								Standard	Standard	NM_000130	NM_000130		Approved		uc001ggg.1	uc001ggg.1	P12259	P12259	OTTHUMG00000034595	OTTHUMG00000034595	ENST00000367797.3:c.1362T>G	1.37:g.169519912A>C			F5_ENST00000546081.1_Silent_p.P317P|F5_ENST00000367797.3_Silent_p.P454P	p.P454P			P12259	FA5_HUMAN			9	1563	-	all_hematologic(923;0.208)		454	F5/8 type A 2.|Plastocyanin-like 3.	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.1362T>G	CCDS1281.1																																																																																									0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		-5.725384	3	3	84	84	NM_000130		3	6.606547	6.606547	55	0.051724	0	0	0	1	0	3	55	0.051724	C	169519912	A	C	169519912	2	2	68	1	0	0	0	0	0	0	0	1	5348	59	3	5		5	F5	1	169519912	Silent	SNP	A	TCGA-WC-A882-01A-11D-A39W-08	3855293	169519912	79730709	2	1266											
ERBB4	2066	broad.mit.edu	37	2	212484000	212484000	+	Splice_Site	SNP	C	C	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr2:212484000C>A	ENST00000342788.4	-	19	2513	c.2203G>T	c.(2203-2205)Ggt>Tgt	p.G735C	ERBB4_ENST00000436443.1_Splice_Site_p.G735C|ERBB4_ENST00000402597.1_Splice_Site_p.G725C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACCCAAATACCCTTTGGGGAA	0.338										TSP Lung(8;0.080)																												ENST00000342788.4											0			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2203-2205)Ggt>Tgt	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						73	73	73					2																	212484000		2203	4300	6503	SO:0001630	splice_region_variant	2066			cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212484000C>A	L07868	L07868	CCDS2394.1, CCDS42811.1	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568	ENSG00000178568	ENSG00000178568				3432	3432	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600543	600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"		"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	7700649, 17018285	Standard	Standard	NM_001042599	NM_001042599		Approved	ALS19	uc002veg.1	uc002veg.1	Q15303	Q15303	OTTHUMG00000133012	OTTHUMG00000133012	ENST00000342788.4:c.2203-1G>T	2.37:g.212484000C>A			ERBB4_ENST00000436443.1_Splice_Site_p.G735C|ERBB4_ENST00000402597.1_Splice_Site_p.G725C	p.G735C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	19	2513	-		Renal(323;0.06)|Lung NSC(271;0.197)	735	Protein kinase.	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Splice_Site	SNP	ENST00000342788.4	37	c.2203G>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.260008|5.260008	0.95368|0.95368	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	D;D;D|D	0.86694|0.90676	-2.16;-2.16;-2.16|-2.71	4.91|4.91	4.91|4.91	0.64330|0.64330	4.91|4.91	4.91|4.91	0.64330|0.64330	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|D	0.95389|0.95389	0.8503|0.8503	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0|.	D|D	0.96085|0.96085	0.9057|0.9057	10|7	0.87932|0.87932	D|D	0|0	.|.	18.0478|18.0478	0.89338|0.89338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	725;725;735;735|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	C|N	735;735;725|724	ENSP00000342235:G735C;ENSP00000403204:G735C;ENSP00000385565:G725C|ENSP00000260943:K724N	ENSP00000342235:G735C|ENSP00000260943:K724N	G|K	-|-	1|3	0|2	0|2	ERBB4|ERBB4	212192245|212192245	212192245|212192245	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.568000|0.568000	0.35870|0.35870	7.426000|7.426000	0.80270|0.80270	2.436000|2.436000	0.82500|0.82500	0.655000|0.655000	0.94253|0.94253	GGT|AAG		0.338	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1		24.498962	1	1	46	46	NM_001042599	Missense_Mutation	11	27.543429	27.543429	36	0.234043	1	0	0.000673444	1	0.000705513	11	36	0.234043	A	212484000	C	A	212484000	5	1	68	1	0	0	0	0	0	0	1	0	5209	637	22	5	1763	5	ERBB4	2	212484000	Splice_Site	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		212484000	30715373	3	1267											
SNTN	132203	broad.mit.edu	37	3	63638463	63638463	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr3:63638463A>T	ENST00000343837.3	+	1	120	c.100A>T	c.(100-102)Atg>Ttg	p.M34L	SNTN_ENST00000496807.1_Missense_Mutation_p.M30L	NM_001080537.1	NP_001074006.1	A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	34						cilium (GO:0005929)	calcium ion binding (GO:0005509)			endometrium(2)|ovary(1)	3						ACCTAGGAAAATGCCCAAAAG	0.448																																						ENST00000496807.1											0			endometrium(2)|ovary(1)	3						c.(88-90)Atg>Ttg	sentan, cilia apical structure protein						95	77	83					3																	63638463		2203	4300	6503	SO:0001583	missense	132203				cilium	calcium ion binding	g.chr3:63638463A>T	AK126350	AK126350	CCDS33779.1	CCDS33779.1	3p14.2	2009-03-10	2009-03-10		2009-03-10	2009-03-10		ENSG00000188817	ENSG00000188817	ENSG00000188817	ENSG00000188817				33706	33706	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"S100A-like protein"	"S100A-like protein"								18829862	18829862	Standard	Standard	NM_001080537	NM_001080537		Approved	FLJ44379, S100AL	uc003dlr.3	uc003dlr.3	A6NMZ2	A6NMZ2	OTTHUMG00000158766	OTTHUMG00000158766	ENST00000343837.3:c.100A>T	3.37:g.63638463A>T	ENSP00000341442:p.Met34Leu		SNTN_ENST00000343837.3_Missense_Mutation_p.M34L	p.M30L			A6NMZ2	SNTAN_HUMAN			1	90	+			34		B7FF65	Missense_Mutation	SNP	ENST00000343837.3	37	c.88A>T	CCDS33779.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126273	0.37533	.	.	ENSG00000188817	ENST00000343837;ENST00000469440;ENST00000496807	T	0.43294	0.95	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.68317	2.08	0.33196	D	0.551526	P	0.51147	0.942	D	0.67231	0.95	T	0.69978	-0.4998	10	0.44086	T	0.13	-15.0832	11.8253	0.52263	1.0:0.0:0.0:0.0	.	34	A6NMZ2	SNTAN_HUMAN	L	34;34;30	ENSP00000341442:M34L	ENSP00000341442:M34L	M	+	1	0	0	SNTN	63613503	63613503	0.999000	0.42202	0.994000	0.49952	0.564000	0.35744	4.461000	0.60115	2.113000	0.64589	0.482000	0.46254	ATG		0.448	SNTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352094.1		37.864714	-34	-34	46	46	NM_001080537		13	38.476117	38.476117	23	0.361111	0	0	0	1	0	13	23	0.361111	T	63638463	A	T	63638463	3	4	68	1	0	0	0	0	1	0	0	0	14876	101	4	5	102	5	SNTN	3	63638463	Missense_Mutation	SNP	A	TCGA-WC-A882-01A-11D-A39W-08		63638463	134383967	4	1268											
ZBTB11	27107	broad.mit.edu	37	3	101378836	101378836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr3:101378836G>A	ENST00000312938.4	-	6	2417	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	613					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(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATGTGCTCGCAAAGAGGCA	0.378																																						ENST00000312938.4											0			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1837-1839)Cga>Tga	zinc finger and BTB domain containing 11						113	105	108					3																	101378836		2203	4300	6503	SO:0001587	stop_gained	27107			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101378836G>A	U69274	U69274	CCDS2943.1	CCDS2943.1	3q12.3	2013-01-09			2013-01-09			ENSG00000066422	ENSG00000066422	ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	16740	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_014415	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	uc003dve.4	O95625	O95625	OTTHUMG00000159133	OTTHUMG00000159133	ENST00000312938.4:c.1837C>T	3.37:g.101378836G>A	ENSP00000326200:p.Arg613*			p.R613*	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			6	2417	-			613		Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	c.1837C>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	45	11.599487	0.99581	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.7	2.86	0.33363	5.7	2.86	0.33363	.	0.072564	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2099	14.9393	0.70980	0.0:0.0:0.6079:0.3921	.	.	.	.	X	613	.	ENSP00000326200:R613X	R	-	1	2	2	ZBTB11	102861526	102861526	1.000000	0.71417	0.985000	0.45067	0.969000	0.65631	3.952000	0.56691	0.307000	0.22880	0.484000	0.47621	CGA		0.378	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2		-4.922114	-10	-10	76	76	NM_014415		3	6.577676	6.577676	52	0.054545	0	0	0	1	0	3	52	0.054545	A	101378836	G	A	101378836	4	1	68	1	0	0	0	0	0	1	0	0	17521	1095	38	1	1348	1	ZBTB11	3	101378836	Nonsense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08	37740373	101378836	96643594	5	1269											
ZNF518B	85460	broad.mit.edu	37	4	10444852	10444852	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr4:10444852C>T	ENST00000326756.3	-	3	3539	c.3101G>A	c.(3100-3102)tGt>tAt	p.C1034Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	1034					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTAAATACACACTGTGAAGA	0.393																																						ENST00000326756.3											0			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(3100-3102)tGt>tAt	zinc finger protein 518B						114	106	109					4																	10444852		2203	4300	6503	SO:0001583	missense	85460			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10444852C>T	AB051516	AB051516	CCDS33960.1	CCDS33960.1	4p16.1	2007-12-07			2007-12-07				ENSG00000178163		ENSG00000178163		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	29365	29365	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11214970	11214970	Standard	Standard	XM_005248193	XM_005248193		Approved	KIAA1729	uc003gmn.3	uc003gmn.3	Q9C0D4	Q9C0D4			ENST00000326756.3:c.3101G>A	4.37:g.10444852C>T	ENSP00000317614:p.Cys1034Tyr			p.C1034Y	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3539	-			1034		Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.3101G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224291	0.58668	.	.	ENSG00000178163	ENST00000326756	T	0.01685	4.69	6.06	6.06	0.98353	6.06	6.06	0.98353	.	0.250043	0.36303	N	0.002673	T	0.04724	0.0128	L	0.43152	1.355	0.29957	N	0.819761	D	0.64830	0.994	P	0.52672	0.706	T	0.02632	-1.1131	10	0.87932	D	0	-15.7531	15.1281	0.72497	0.0:0.8593:0.1407:0.0	.	1034	Q9C0D4	Z518B_HUMAN	Y	1034	ENSP00000317614:C1034Y	ENSP00000317614:C1034Y	C	-	2	0	0	ZNF518B	10053950	10053950	0.915000	0.31059	0.992000	0.48379	0.704000	0.40688	2.137000	0.42130	2.882000	0.98803	0.655000	0.94253	TGT		0.393	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1		50.228912	12	12	91	91	NM_053042		18	52.087051	52.087051	40	0.310345	0	0	0	1	0	18	40	0.310345	T	10444852	C	T	10444852	3	4	68	1	0	0	0	0	1	0	0	0	17960	478	17	3	127	3	ZNF518B	4	10444852	Missense_Mutation	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		10444852	180709424	6	1270											
PCDHGB4	8641	broad.mit.edu	37	5	140769318	140769318	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr5:140769318G>A	ENST00000519479.1	+	1	1867	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGGCGAAGTGCGCAC	0.697																																						ENST00000519479.1											0			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1867-1869)Gaa>Aaa							32	38	36					5																	140769318		2135	4249	6384	SO:0001583	missense	0						g.chr5:140769318G>A	AF152520	AF152520	CCDS54928.1, CCDS75337.1	CCDS54928.1, CCDS75337.1	5q31	2010-01-26			2010-01-26				ENSG00000253953		ENSG00000253953		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8711	8711	other	protocadherin	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	"fibroblast cadherin FIB2", "cadherin 20"	603058	603058						10380929	10380929	Standard	Standard	NM_003736	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4			Q9UN71	Q9UN71			ENST00000519479.1:c.1867G>A	5.37:g.140769318G>A	ENSP00000428288:p.Glu623Lys		PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.E623K	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1867	+					O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1867G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.953749	0.73902	.	.	ENSG00000253953	ENST00000519479	T	0.53206	0.63	5.05	5.05	0.67936	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77246	0.4102	M	0.92459	3.31	0.31670	N	0.644471	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.83019	-0.0168	9	0.87932	D	0	.	18.4161	0.90571	0.0:0.0:1.0:0.0	.	623;623	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	K	623	ENSP00000428288:E623K	ENSP00000428288:E623K	E	+	1	0	0	PCDHGB4	140749502	140749502	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	9.500000	0.97977	2.503000	0.84419	0.563000	0.77884	GAA		0.697	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1		61.228755	-1	-1	65	65	NM_003736		22	62.729195	62.729195	43	0.338462	0	0	0	1	0	22	43	0.338462	A	140769318	G	A	140769318	3	1	68	1	0	0	0	0	1	0	0	0	11565	1059	37	1	1869	1	PCDHGB4	5	140769318	Missense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08		140769318	40145942	7	1271											
LAMA2	3908	broad.mit.edu	37	6	129663539	129663539	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr6:129663539T>C	ENST00000421865.2	+	30	4412	c.4363T>C	c.(4363-4365)Tac>Cac	p.Y1455H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1455	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCTCTTGGATACTATGGAAT	0.373																																						ENST00000421865.2											0			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(4363-4365)Tac>Cac	laminin, alpha 2						164	151	156					6																	129663539		2203	4300	6503	SO:0001583	missense	3908			cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129663539T>C	Z26653	Z26653	CCDS5138.1	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569	ENSG00000196569	ENSG00000196569		"Laminins"	"Laminins"	6482	6482	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	"merosin", "congenital muscular dystrophy"	156225	156225		LAMM		LAMM		2185464, 8294519	2185464, 8294519	Standard	Standard	NM_000426	NM_000426		Approved		uc003qbn.3	uc003qbn.3	P24043	P24043	OTTHUMG00000015545	OTTHUMG00000015545	ENST00000421865.2:c.4363T>C	6.37:g.129663539T>C	ENSP00000400365:p.Tyr1455His			p.Y1455H	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	30	4412	+			1455	Laminin EGF-like 15.	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4363T>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489778	0.84962	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.71817	-0.6	5.57	5.57	0.84162	5.57	5.57	0.84162	EGF-like, laminin (4);	0.064450	0.64402	D	0.000007	T	0.78698	0.4324	M	0.71581	2.175	0.45464	D	0.998434	D;D	0.71674	0.998;0.993	D;D	0.68483	0.958;0.942	T	0.80681	-0.1274	10	0.54805	T	0.06	.	15.0157	0.71581	0.0:0.0:0.0:1.0	.	1455;1455	A6NF00;P24043	.;LAMA2_HUMAN	H	1455	ENSP00000400365:Y1455H	ENSP00000346769:Y1455H	Y	+	1	0	0	LAMA2	129705232	129705232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.920000	0.75799	2.248000	0.74166	0.533000	0.62120	TAC		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		61.718279	10	10	109	109			22	65.046403	65.046403	56	0.282051	0	0	0	1	0	22	56	0.282051	C	129663539	T	C	129663539	3	2	68	1	0	0	0	0	1	0	0	0	8606	1406	49	4	4481	4	LAMA2	6	129663539	Missense_Mutation	SNP	T	TCGA-WC-A882-01A-11D-A39W-08		129663539	41451528	8	1272											
ZNF511	118472	broad.mit.edu	37	10	135123360	135123360	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr10:135123360C>T	ENST00000359035.3	+	3	311	c.308C>T	c.(307-309)aCg>aTg	p.T103M	ZNF511_ENST00000368554.4_Missense_Mutation_p.T38M|TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000361518.5_Missense_Mutation_p.T103M|ZNF511_ENST00000463816.2_Intron			Q8NB15	ZN511_HUMAN	zinc finger protein 511	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CACTACCACACGCTGCACGGA	0.622																																						ENST00000359035.3											0			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(307-309)aCg>aTg	zinc finger protein 511						121	87	99					10																	135123360		2203	4300	6503	SO:0001583	missense	118472			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135123360C>T	AK091711	AK091711	CCDS7677.1	CCDS7677.1	10q26.3	2010-04-12			2010-04-12			ENSG00000198546	ENSG00000198546	ENSG00000198546	ENSG00000198546		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	28445	28445	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_145806	NM_145806		Approved	MGC30006	uc001lmj.1	uc001lmj.1	Q8NB15	Q8NB15	OTTHUMG00000019317	OTTHUMG00000019317	ENST00000359035.3:c.308C>T	10.37:g.135123360C>T	ENSP00000351929:p.Thr103Met		ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Missense_Mutation_p.T103M|ZNF511_ENST00000368554.4_Missense_Mutation_p.T38M	p.T103M			Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	3	311	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	103		A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.308C>T		.	.	.	.	.	.	.	.	.	.	C	14.86	2.661848	0.47572	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D;D;D	0.88741	-2.42;-2.42;-2.42	5.2	3.22	0.36961	5.2	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.362109	0.32106	N	0.006566	T	0.77877	0.4196	L	0.37897	1.145	0.25754	N	0.98502	P;B;P	0.40660	0.726;0.331;0.466	B;B;B	0.27380	0.079;0.023;0.071	T	0.67457	-0.5666	10	0.35671	T	0.21	-20.4314	8.0905	0.30797	0.0:0.7754:0.0:0.2246	.	103;38;103	Q8NB15;E1U340;Q8NB15-2	ZN511_HUMAN;.;.	M	103;103;38	ENSP00000355251:T103M;ENSP00000351929:T103M;ENSP00000357542:T38M	ENSP00000351929:T103M	T	+	2	0	0	ZNF511	134973350	134973350	0.788000	0.28762	0.978000	0.43139	0.928000	0.56348	2.397000	0.44477	0.586000	0.29626	0.650000	0.86243	ACG		0.622	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1		58.116918	-17	-17	57	57	NM_145806		19	58.493216	58.493216	28	0.404255	0	0	0	1	0	19	28	0.404255	T	135123360	C	T	135123360	3	4	68	1	0	0	0	0	1	0	0	0	17952	536	19	1	318	1	ZNF511	10	135123360	Missense_Mutation	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		135123360	411387	9	1273											
MAPKAPK5	8550	broad.mit.edu	37	12	112330858	112330858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr12:112330858delC	ENST00000551404.2	+	14	1523	c.1415delC	c.(1414-1416)tccfs	p.S472fs	MAPKAPK5_ENST00000550735.2_Frame_Shift_Del_p.S470fs			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	472					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						TCCCACGAATCCCAATAATGA	0.303																																						ENST00000550735.2											0			endometrium(1)|lung(11)|ovary(1)	13						c.(1408-1410)tccfs	mitogen-activated protein kinase-activated protein kinase 5						71	69	70					12																	112330858		1853	4096	5949	SO:0001589	frameshift_variant	8550			signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112330858delC	AF032437	AF032437	CCDS44975.1, CCDS44976.1	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			2012-05-30			ENSG00000089022	ENSG00000089022	ENSG00000089022	ENSG00000089022				6889	6889	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606723	606723						9628874	9628874	Standard	Standard	NM_003668	NM_003668		Approved	PRAK	uc001tta.4	uc001tta.4	Q8IW41	Q8IW41	OTTHUMG00000169605	OTTHUMG00000169605	ENST00000551404.2:c.1415delC	12.37:g.112330858delC	ENSP00000449381:p.Ser472fs		MAPKAPK5_ENST00000551404.2_Frame_Shift_Del_p.S472fs	p.S470fs	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			14	2165	+			472		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Frame_Shift_Del	DEL	ENST00000551404.2	37	c.1409delC	CCDS44975.1																																																																																									0.303	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	.	.	-4	-4	4	4	NM_139078		2			4	0.33						2	4	0.33	-	112330858	C	-	112330858	7	5	68	1	0	1	0	1	0	0	0	0	9291	855	30	0	1469	0	MAPKAPK5	12	112330858	Frame_Shift_Del	DEL	C	TCGA-WC-A882-01A-11D-A39W-08		112330858	21521037	10	1274											
SHF	90525	broad.mit.edu	37	15	45464122	45464122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr15:45464122G>A	ENST00000560471.1	-	6	1240	c.1237C>T	c.(1237-1239)Caa>Taa	p.Q413*	SHF_ENST00000458022.2_Silent_p.R164R|SHF_ENST00000560734.1_Intron|SHF_ENST00000318390.6_Silent_p.R358R|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000561091.1_5'Flank|SHF_ENST00000560540.1_Nonsense_Mutation_p.Q366*|SHF_ENST00000290894.8_Silent_p.R348R					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TCTCACTGTTGCGCACCAGGT	0.582																																						ENST00000560471.1											0			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12						c.(1237-1239)Caa>Taa	Src homology 2 domain containing F						86	66	73					15																	45464122		2198	4298	6496	SO:0001587	stop_gained	90525						g.chr15:45464122G>A	BC007586	BC007586	CCDS10120.2, CCDS73721.1	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			2013-02-14			ENSG00000138606	ENSG00000138606	ENSG00000138606	ENSG00000138606		"SH2 domain containing"	"SH2 domain containing"	25116	25116	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11095946	11095946	Standard	Standard	NM_138356	NM_138356		Approved		uc001zuy.3	uc001zuy.3	Q7M4L6	Q7M4L6	OTTHUMG00000131353	OTTHUMG00000131353	ENST00000560471.1:c.1237C>T	15.37:g.45464122G>A	ENSP00000453260:p.Gln413*		SHF_ENST00000290894.8_Silent_p.R348R|SHF_ENST00000560540.1_Nonsense_Mutation_p.Q366*|SHF_ENST00000318390.6_Silent_p.R358R|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000458022.2_Silent_p.R164R|SHF_ENST00000560734.1_Intron	p.Q413*			B3KTY1	B3KTY1_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	6	1240	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	0			Nonsense_Mutation	SNP	ENST00000560471.1	37	c.1237C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.067341	0.76301	.	.	ENSG00000138606	ENST00000361989	.	.	.	4.94	1.49	0.22878	4.94	1.49	0.22878	.	.	.	.	.	T	0.70133	0.3189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72043	-0.4409	5	0.87932	D	0	-15.0264	11.1936	0.48700	0.0:0.0:0.3183:0.6817	.	.	.	.	V	348	.	ENSP00000355004:A348V	A	-	2	0	0	SHF	43251414	43251414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.853000	0.27777	0.430000	0.26230	0.655000	0.94253	GCA		0.582	SHF-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000416345.1		42.948425	-12	-12	42	42	NM_138356		14	42.948425	42.948425	14	0.5	0	0	0	1	0	14	14	0.5	A	45464122	G	A	45464122	4	1	68	1	0	0	0	0	0	1	0	0	14277	1306	46	2	235	2	SHF	15	45464122	Nonsense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08		45464122	57067270	11	1275											
PKD1L2	114780	ucsc.edu	37	16	81209336	81209336	+	RNA	SNP	G	G	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr16:81209336G>T	ENST00000527937.1	-	0	338				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGTTCAGGGCCACAGTGTA	0.542																																																	0																	82	83	83					16																	81209336		2024	4177	6201			114780							AY164483	AY164483	CCDS61998.1, CCDS61999.1	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			2014-09-11			ENSG00000166473	ENSG00000166473	ENSG00000166473	ENSG00000166473				21715	21715	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607894	607894						12782129	12782129	Standard	Standard	NM_052892	NM_052892		Approved	KIAA1879	uc002fgf.1	uc002fgf.1	Q7Z442	Q7Z442	OTTHUMG00000166126	OTTHUMG00000166126		16.37:g.81209336G>T																		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000527937.1	37			.	.	.	.	.	.	.	.	.	.	G	9.018	0.984184	0.18889	.	.	ENSG00000166473	ENST00000526632	.	.	.	4.78	-0.0422	0.13864	4.78	-0.0422	0.13864	.	.	.	.	.	T	0.41926	0.1180	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24905	-1.0147	4	.	.	.	-15.7461	1.76	0.02990	0.277:0.1404:0.4394:0.1433	.	.	.	.	T	347	.	.	P	-	1	0	0	PKD1L2	79766837	79766837	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	0.738000	0.26158	0.127000	0.18452	-0.396000	0.06452	CCC		0.542	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			-21	-21	33	33			4			33							4	33		T	81209336	G	T	81209336	1	4	68	0	1	0	0	0	0	0	0	0	11965	1190	42	5		5	PKD1L2	16	81209336	RNA	SNP	G	TCGA-WC-A882-01A-11D-A39W-08		81209336	9145417	12	1276											
SFRS2	6427	broad.mit.edu	37	17	74732943	74732969	+	In_Frame_Del	DEL	GTGGTGTGAGTCCGGGGGGCGGCCGTA	GTGGTGTGAGTCCGGGGGGCGGCCGTA	-			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr17:74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	ENST00000392485.2	-	1	446_472	c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	c.(274-300)tacggccgccccccggactcacaccacdel	p.YGRPPDSHH92del	MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSHH92del|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSHH92del|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	92	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.P95H(75)|p.P95L(48)|p.P95R(29)|p.P95_R102del(21)|p.?(6)|p.P95?(4)|p.P95_D97del(2)|p.P95A(1)|p.G93>DR(1)|p.P95T(1)|p.R94_P95insR(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CCCGGCGGCTGTGGTGTGAGTCCGGGGGGCGGCCGTAGCGCGCCATT	0.736			Mis		"MDS, CLL"																																	ENST00000392485.2		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	189	Substitution - Missense(158)|Deletion - In frame(23)|Unknown(6)|Complex - insertion inframe(1)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(189)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(274-300)tacggccgccccccggactcacaccacdel	serine/arginine-rich splicing factor 2																																			SO:0001651	inframe_deletion	6427			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	M90104	M90104	CCDS11749.1	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	10783	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"SR splicing factor 2"	"SR splicing factor 2"	600813	600813	"splicing factor, arginine/serine-rich 2"	SFRS2	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	8530103, 20516191	Standard	Standard	NM_003016	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	uc002jsv.3	Q01130	Q01130			ENST00000392485.2:c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	17.37:g.74732943_74732969delGTGGTGTGAGTCCGGGGGGCGGCCGTA	ENSP00000376276:p.Tyr92_His100del		MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_In_Frame_Del_p.YGRPPDSHH92del|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000359995.5_In_Frame_Del_p.YGRPPDSHH92del	p.YGRPPDSHH92del	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			1	446_472	-			92	RRM.	B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	CCDS11749.1																																																																																									0.736	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	.	.	-3	-3	31	31	NM_003016		7			28	0.2						7	28	0.2	-	74732969	GTGGTGTGAGTCCGGGGGGCGGCCGTA	-	74732943	7	5	68	1	0	1	0	1	0	0	0	0	14175	1368	48	0	373	0	SFRS2	17	74732943	In_Frame_Del	DEL	GTGGTGTGAGTCCGGGGGGCGGCCGTA	TCGA-WC-A882-01A-11D-A39W-08		74732943	6462267	13	1277											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		39.435348	-10	-10	71	71	NM_002067		14	39.743357	39.743357	21	0.4	0	0	0	1	0	14	21	0.4	T	3118942	A	T	3118942	3	4	68	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A882-01A-11D-A39W-08		3118942	56010041	14	1278											
PPP2R1A	5518	broad.mit.edu	37	19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr19:52715983G>A	ENST00000322088.6	+	5	606	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183Q(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGGTGCGGCGGGCCGCAGCC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6		Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	10	Substitution - Missense(10)	ovary(6)|endometrium(2)|prostate(1)|large_intestine(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(547-549)cGg>cAg	protein phosphatase 2, regulatory subunit A, alpha						75	60	65					19																	52715983		2203	4300	6503	SO:0001583	missense	5518			ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715983G>A			CCDS12849.1	CCDS12849.1	19q13	2010-06-18	2010-04-14		2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	9302	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"		"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"					Standard	Standard	NR_033500	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	uc002pyp.3	P30153	P30153	OTTHUMG00000137367	OTTHUMG00000137367	ENST00000322088.6:c.548G>A	19.37:g.52715983G>A	ENSP00000324804:p.Arg183Gln		PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	p.R183Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	606	+			183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.548G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603708	0.96626	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06294	3.32;3.32	4.5	4.5	0.54988	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.36690	0.0976	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.72982	0.979;0.859;0.859	T	0.55218	-0.8175	10	0.87932	D	0	-15.4468	15.1188	0.72426	0.0:0.0:1.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Q	173;103;183;128	ENSP00000324804:R183Q;ENSP00000415067:R128Q	ENSP00000324804:R183Q	R	+	2	0	0	PPP2R1A	57407795	57407795	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.489000	0.90461	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2		44.711454	7	7	61	61	NM_014225		15	45.944544	45.944544	31	0.326087	0	0	0	1	0	15	31	0.326087	A	52715983	G	A	52715983	3	1	68	1	0	0	0	0	1	0	0	0	12382	1116	39	1	566	1	PPP2R1A	19	52715983	Missense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08	49597041	52715983	6413000	15	1279											
C20orf118	140711	broad.mit.edu	37	20	35507473	35507473	+	Silent	SNP	C	C	T			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr20:35507473C>T	ENST00000217320.3	+	3	263	c.219C>T	c.(217-219)acC>acT	p.T73T	TLDC2_ENST00000602922.1_Silent_p.T73T	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	73								p.T73T(1)									CAAGAGTCACCGGCCATCCCT	0.632																																						ENST00000217320.3											1	Substitution - coding silent(1)	large_intestine(1)								c.(217-219)acC>acT	TBC/LysM-associated domain containing 2						123	96	105					20																	35507473		2203	4300	6503	SO:0001819	synonymous_variant	140711						g.chr20:35507473C>T	AL079335	AL079335	CCDS33465.1	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342	ENSG00000101342	ENSG00000101342				16112	16112	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"hypothetical protein LOC140711", "TLD domain containing 2"	"hypothetical protein LOC140711", "TLD domain containing 2"			"chromosome 20 open reading frame 118"	C20orf118	"chromosome 20 open reading frame 118"	C20orf118				Standard	Standard	NM_080628	NM_080628		Approved	dJ132F21.2	uc002xgg.1	uc002xgg.1	A0PJX2	A0PJX2	OTTHUMG00000032400	OTTHUMG00000032400	ENST00000217320.3:c.219C>T	20.37:g.35507473C>T			TLDC2_ENST00000602922.1_Silent_p.T73T	p.T73T	NM_080628.1	NP_542195.1					3	263	+					B3KVU8	Silent	SNP	ENST00000217320.3	37	c.219C>T	CCDS33465.1																																																																																									0.632	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2		-15.353407	-24	-24	93	93	NM_080628		3	6.308178	6.308178	88	0.032967	0	0	0	1	0	3	88	0.032967	T	35507473	C	T	35507473	2	4	68	1	0	0	0	0	0	0	0	1	2084	639	23	1		1	C20orf118	20	35507473	Silent	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		35507473	27518047	16	1280											
MYO18B	84700	broad.mit.edu	37	22	26422803	26422803	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	g.chr22:26422803C>A	ENST00000407587.2	+	43	7035	c.6866C>A	c.(6865-6867)aCa>aAa	p.T2289K	MYO18B_ENST00000335473.7_Missense_Mutation_p.T2288K|MYO18B_ENST00000536101.1_Missense_Mutation_p.T2288K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2288						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGGCCTCCACACTAAGGAGG	0.642																																						ENST00000335473.7											0			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6862-6864)aCa>aAa	myosin XVIIIB						17	21	20					22																	26422803		1890	4101	5991	SO:0001583	missense	84700				nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422803C>A	AJ310931	AJ310931	CCDS54507.1	CCDS54507.1	22q12.1	2011-09-27			2011-09-27			ENSG00000133454	ENSG00000133454	ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	"Myosins / Myosin superfamily : Class XVIII"	18150	18150	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607295	607295						12209013, 12547197	12209013, 12547197	Standard	Standard	NM_032608	NM_032608		Approved	BK125H2.1	uc003abz.1	uc003abz.1	Q8IUG5	Q8IUG5	OTTHUMG00000151129	OTTHUMG00000151129	ENST00000407587.2:c.6866C>A	22.37:g.26422803C>A	ENSP00000386096:p.Thr2289Lys		MYO18B_ENST00000407587.2_Missense_Mutation_p.T2289K|MYO18B_ENST00000536101.1_Missense_Mutation_p.T2288K	p.T2288K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7113	+			2288		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6863C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.21|15.21	2.765044|2.765044	0.49574|0.49574	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.87650	.|-2.26;-2.26;-2.28	4.67|4.67	4.67|4.67	0.58626|0.58626	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.49916	.|D	.|0.000122	D|D	0.84370|0.84370	0.5457|0.5457	L|L	0.54323|0.54323	1.7|1.7	0.25374|0.25374	N|N	0.988673|0.988673	.|B;B;B;B;B	.|0.33583	.|0.279;0.294;0.294;0.418;0.418	.|B;B;B;B;B	.|0.30855	.|0.052;0.057;0.057;0.121;0.121	T|T	0.80276|0.80276	-0.1450|-0.1450	5|10	.|0.72032	.|D	.|0.01	.|.	16.1157|16.1157	0.81304|0.81304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1801;2290;2288;2289;2288	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	N|K	238|2288;2288;2289	.|ENSP00000441229:T2288K;ENSP00000334563:T2288K;ENSP00000386096:T2289K	.|ENSP00000334563:T2288K	H|T	+|+	1|2	0|0	0|0	MYO18B|MYO18B	24752803|24752803	24752803|24752803	0.005000|0.005000	0.15991|0.15991	0.552000|0.552000	0.28243|0.28243	0.662000|0.662000	0.39071|0.39071	2.103000|2.103000	0.41806|0.41806	2.152000|2.152000	0.67230|0.67230	0.313000|0.313000	0.20887|0.20887	CAC|ACA		0.642	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		6.550001	7	7	13	13	NM_032608		2	6.550001	6.550001	2	0.5	1	0	1	1	1	2	2	0.5	A	26422803	C	A	26422803	3	1	68	1	0	0	0	0	1	0	0	0	10066	478	17	5	7029	5	MYO18B	22	26422803	Missense_Mutation	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		26422803	24881763	17	1281											
JAK1	3716	broad.mit.edu	37	1	65339052	65339052	+	Splice_Site	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr1:65339052C>T	ENST00000342505.4	-	5	732		c.e5+1			NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1						cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAACTTCCTACCTGAGCAAAC	0.502			Mis		ALL																																	ENST00000342505.4		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.e5+1	Janus kinase 1						87	91	90					1																	65339052		1946	4160	6106	SO:0001630	splice_region_variant	3716			interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65339052C>T	M64174	M64174	CCDS41346.1	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	ENSG00000162434	ENSG00000162434	2.7.10.1			6190	6190	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147795	147795		JAK1B		JAK1B		1848670, 7698020	1848670, 7698020	Standard	Standard	NM_002227	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	uc001dbu.1	P23458	P23458	OTTHUMG00000009310	OTTHUMG00000009310	ENST00000342505.4:c.483+1G>A	1.37:g.65339052C>T					NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	5	732	-					Q59GQ2|Q9UD26	Splice_Site	SNP	ENST00000342505.4	37		CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989213	0.74589	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.05	5.05	0.67936	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3102	0.94184	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	JAK1	65111640	65111640	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.271000	0.78506	2.734000	0.93682	0.650000	0.86243	.		0.502	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1		22.828089	4	4	62	62	NM_002227	Intron	7	23.185194	23.185194	3	0.7	0	0	0	1	0	7	3	0.7	T	65339052	C	T	65339052	5	4	69	1	0	0	0	0	0	0	1	0	7937	521	18	3	3064	3	JAK1	1	65339052	Splice_Site	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		65339052	183911569	1	1282											
PROX1	5629	broad.mit.edu	37	1	214169914	214169914	+	Silent	SNP	G	G	A			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr1:214169914G>A	ENST00000366958.4	+	2	644	c.36G>A	c.(34-36)cgG>cgA	p.R12R	PROX1_ENST00000261454.4_Silent_p.R12R|PROX1_ENST00000435016.1_Silent_p.R12R|PROX1_ENST00000498508.2_Silent_p.R12R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	12	Interaction with RORG. {ECO:0000250|UniProtKB:P48437}.				aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|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 genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCTTAAGCCGGCAAACCAAGA	0.498																																						ENST00000366958.4											0			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(34-36)cgG>cgA	prospero homeobox 1						103	88	93					1																	214169914		2203	4300	6503	SO:0001819	synonymous_variant	5629			aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214169914G>A	U44060	U44060	CCDS31021.1	CCDS31021.1	1q41	2011-06-20	2007-06-01		2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707	ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	"Homeoboxes / PROS class"	9459	9459	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601546	601546	"prospero-related homeobox 1"		"prospero-related homeobox 1"			8812486	8812486	Standard	Standard	NM_002763	NM_002763		Approved		uc001hkg.2	uc001hkg.2	Q92786	Q92786	OTTHUMG00000036946	OTTHUMG00000036946	ENST00000366958.4:c.36G>A	1.37:g.214169914G>A			PROX1_ENST00000498508.2_Silent_p.R12R|PROX1_ENST00000261454.4_Silent_p.R12R|PROX1_ENST00000435016.1_Silent_p.R12R	p.R12R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	644	+			12		A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.36G>A	CCDS31021.1																																																																																									0.498	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6		-6.226089	-4	-4	65	65	NM_002763		3	6.384125	6.384125	56	0.050847	0	0	0	1	0	3	56	0.050847	A	214169914	G	A	214169914	2	1	69	1	0	0	0	0	0	0	0	1	12560	1190	42	2		2	PROX1	1	214169914	Silent	SNP	G	TCGA-WC-A883-01A-12D-A39W-08	148830862	214169914	35080707	2	1283											
GLB1L	79411	broad.mit.edu	37	2	220107630	220107630	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr2:220107630A>G	ENST00000295759.7	-	4	563	c.250T>C	c.(250-252)Tgg>Cgg	p.W84R	GLB1L_ENST00000392089.2_Missense_Mutation_p.W84R|STK16_ENST00000396738.2_5'Flank|STK16_ENST00000409516.3_5'Flank|STK16_ENST00000409638.3_5'Flank|STK16_ENST00000409260.1_5'Flank|STK16_ENST00000409743.1_5'Flank|GLB1L_ENST00000497855.1_5'Flank|GLB1L_ENST00000356283.3_Missense_Mutation_p.W84R|GLB1L_ENST00000409640.1_Missense_Mutation_p.W84R			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	84					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTAGTTCCAGGGCACATAA	0.537																																						ENST00000295759.7											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(250-252)Tgg>Cgg	galactosidase, beta 1-like						57	64	61					2																	220107630		2203	4300	6503	SO:0001583	missense	79411			carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220107630A>G			CCDS2437.1, CCDS74657.1	CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			2008-02-05			ENSG00000163521	ENSG00000163521	ENSG00000163521	ENSG00000163521				28129	28129	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12975309	12975309	Standard	Standard	XM_005246850	XM_005246850		Approved	MGC10771	uc002vkm.3	uc002vkm.3	Q6UWU2	Q6UWU2	OTTHUMG00000133133	OTTHUMG00000133133	ENST00000295759.7:c.250T>C	2.37:g.220107630A>G	ENSP00000295759:p.Trp84Arg		GLB1L_ENST00000409640.1_Missense_Mutation_p.W84R|GLB1L_ENST00000356283.3_Missense_Mutation_p.W84R|GLB1L_ENST00000392089.2_Missense_Mutation_p.W84R	p.W84R			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	563	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	84		Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.250T>C	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.931311	0.92389	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427	D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29	6.17	6.17	0.99709	6.17	6.17	0.99709	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	H	0.98487	4.245	0.50171	D	0.999854	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96066	0.9042	10	0.87932	D	0	-9.9619	16.8222	0.85835	1.0:0.0:0.0:0.0	.	84;84	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	R	84	ENSP00000295759:W84R;ENSP00000386354:W84R;ENSP00000375939:W84R;ENSP00000348628:W84R;ENSP00000400738:W84R	ENSP00000295759:W84R	W	-	1	0	0	GLB1L	219815874	219815874	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	TGG		0.537	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2		-2.411768	43	43	88	88	NM_024506		3	6.888306	6.888306	44	0.06383	0	0	0	1	0	3	44	0.06383	G	220107630	A	G	220107630	3	3	69	1	0	0	0	0	1	0	0	0	6428	188	7	4	1770	4	GLB1L	2	220107630	Missense_Mutation	SNP	A	TCGA-WC-A883-01A-12D-A39W-08		220107630	23091743	3	1284											
NOP14	8602	broad.mit.edu	37	4	2951844	2951844	+	Missense_Mutation	SNP	C	C	T	rs145122268		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr4:2951844C>T	ENST00000314262.6	-	8	1147	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	NOP14_ENST00000502735.1_Missense_Mutation_p.G367R|NOP14_ENST00000398071.4_Missense_Mutation_p.G367R|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.G367R|NOP14-AS1_ENST00000515194.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	367					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)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GTGTCCTCCCCGCCTGAACTG	0.532																																						ENST00000416614.2											0			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						c.(1099-1101)Ggg>Agg	NOP14 nucleolar protein						292	286	288					4																	2951844		2203	4300	6503	SO:0001583	missense	8602			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)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2951844C>T	AB000467	AB000467	CCDS33945.1	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269	ENSG00000087269	ENSG00000087269				16821	16821	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	"NOP14 homolog (S. cerevisiae)"	611526	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	9734812, 11694595	Standard	Standard	XR_241655	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	uc003ggj.1	P78316	P78316	OTTHUMG00000159911	OTTHUMG00000159911	ENST00000314262.6:c.1099G>A	4.37:g.2951844C>T	ENSP00000315674:p.Gly367Arg		NOP14_ENST00000502735.1_Missense_Mutation_p.G367R|NOP14_ENST00000314262.6_Missense_Mutation_p.G367R|NOP14_ENST00000398071.4_Missense_Mutation_p.G367R|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA	p.G367R			P78316	NOP14_HUMAN			8	1164	-			367		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.1099G>A	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	5.098	0.203803	0.09704	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.19	-0.324	0.12706	5.19	-0.324	0.12706	.	2.457880	0.01324	N	0.011035	T	0.30603	0.0770	L	0.40543	1.245	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.002	T	0.44697	-0.9311	10	0.87932	D	0	-1.6283	11.8659	0.52493	0.0:0.6264:0.0:0.3736	.	160;367;367	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	R	367;367;367;367;266	ENSP00000405068:G367R;ENSP00000315674:G367R;ENSP00000427415:G367R;ENSP00000381146:G367R	ENSP00000315674:G367R	G	-	1	0	0	NOP14	2921642	2921642	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.015000	0.12634	-0.037000	0.13646	-1.865000	0.00557	GGG		0.532	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2		204.885945	8	8	224	224	NM_003703		64	205.368308	205.368308	82	0.438356	0	0	0	1	0	64	82	0.438356	T	2951844	C	T	2951844	3	4	69	1	0	0	0	0	1	0	0	0	10536	652	23	1	1518	1	NOP14	4	2951844	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		2951844	188202432	4	1285											
UBA6	55236	broad.mit.edu	37	4	68530982	68530982	+	Silent	SNP	A	A	G			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr4:68530982A>G	ENST00000322244.5	-	10	881	c.822T>C	c.(820-822)ggT>ggC	p.G274G	UBA6_ENST00000420827.2_Silent_p.G274G	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	274					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CTGTGGTGTCACCAATACTAA	0.299																																						ENST00000322244.5											0			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(820-822)ggT>ggC	ubiquitin-like modifier activating enzyme 6						75	82	79					4																	68530982		2203	4296	6499	SO:0001819	synonymous_variant	55236			protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68530982A>G	AK094164	AK094164	CCDS3516.1	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	"Ubiquitin-like modifier activating enzymes"	25581	25581	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	"UBA6, ubiquitin-activating enzyme E1"	611361	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	17580310	Standard	Standard	NM_018227	NM_018227		Approved	FLJ10808	uc003hdg.4	uc003hdg.4	A0AVT1	A0AVT1	OTTHUMG00000129299	OTTHUMG00000129299	ENST00000322244.5:c.822T>C	4.37:g.68530982A>G			UBA6_ENST00000420827.2_Silent_p.G274G	p.G274G	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			10	881	-					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.822T>C	CCDS3516.1																																																																																									0.299	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2		94.239376	0	0	131	131	NM_018227		30	94.550788	94.550788	40	0.428571	0	0	0	1	0	30	40	0.428571	G	68530982	A	G	68530982	2	3	69	1	0	0	0	0	0	0	0	1	16829	146	6	4		4	UBA6	4	68530982	Silent	SNP	A	TCGA-WC-A883-01A-12D-A39W-08	65579138	68530982	122623294	5	1286											
BCKDHB	594	broad.mit.edu	37	6	80816425	80816425	+	Silent	SNP	G	G	C			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr6:80816425G>C	ENST00000320393.6	+	1	62	c.15G>C	c.(13-15)gcG>gcC	p.A5A	BCKDHB_ENST00000369760.4_Silent_p.A5A|BCKDHB_ENST00000545529.1_Silent_p.A5A|BCKDHB_ENST00000356489.5_Silent_p.A5A	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	5					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CGGTTGTAGCGGCGGCTGCCG	0.726																																						ENST00000545529.1											0			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(13-15)gcG>gcC	branched chain keto acid dehydrogenase E1, beta polypeptide						4	6	5					6																	80816425		1963	3847	5810	SO:0001819	synonymous_variant	594			branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80816425G>C	M55575	M55575	CCDS4994.1	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123	ENSG00000083123	ENSG00000083123				987	987	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"maple syrup urine disease"	"maple syrup urine disease"	248611	248611								Standard	Standard	NM_183050	NM_183050		Approved		uc003pje.2	uc003pje.2	P21953	P21953	OTTHUMG00000016430	OTTHUMG00000016430	ENST00000320393.6:c.15G>C	6.37:g.80816425G>C			BCKDHB_ENST00000320393.6_Silent_p.A5A|BCKDHB_ENST00000356489.5_Silent_p.A5A|BCKDHB_ENST00000369760.4_Silent_p.A5A	p.A5A			P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	1	43	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	5		Q5T2J3|Q9BQL0	Silent	SNP	ENST00000320393.6	37	c.15G>C	CCDS4994.1																																																																																									0.726	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2		7.476777	5	5	8	8	NM_000056		2	7.253522	7.253522	0	1	0	0	0	1	0	2	0	1	C	80816425	G	C	80816425	2	2	69	1	0	0	0	0	0	0	0	1	1360	1103	39	5		5	BCKDHB	6	80816425	Silent	SNP	G	TCGA-WC-A883-01A-12D-A39W-08		80816425	90298642	6	1287											
CYC1	1537	broad.mit.edu	37	8	145151500	145151501	+	In_Frame_Ins	INS	-	-	ACTACT	rs562084132		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr8:145151500_145151501insACTACT	ENST00000318911.4	+	5	698_699	c.625_626insACTACT	c.(625-627)gac>gACTACTac	p.209_210insYY	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	209	Cytochrome c.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGTGGTGAGGACTACGTCTTC	0.604											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318911.4											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(625-627)gac>gACTACTac	cytochrome c-1																																			SO:0001652	inframe_insertion	1537			respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151500_145151501insACTACT	BC001006	BC001006	CCDS6415.1	CCDS6415.1	8q24	2011-07-04			2011-07-04			ENSG00000179091	ENSG00000179091	ENSG00000179091	ENSG00000179091		"Mitochondrial respiratory chain complex / Complex III"	"Mitochondrial respiratory chain complex / Complex III"	2579	2579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			123980	123980								Standard	Standard	NM_001916	NM_001916		Approved	UQCR4	uc003zaz.4	uc003zaz.4	P08574	P08574	OTTHUMG00000165242	OTTHUMG00000165242	Exception_encountered	8.37:g.145151500_145151501insACTACT	ENSP00000317159:p.Asp209_Tyr210insTyrTyr	1692		p.209_210insYY	NM_001916.3	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	698_699	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		209	Cytochrome c.	Q5U062|Q6FHS7	In_Frame_Ins	INS	ENST00000318911.4	37	c.625_626insACTACT	CCDS6415.1																																																																																									0.604	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	.	.	13	13	82	82	NM_001916		9			142	0.06						9	142	0.06	ACTACT	145151501	-	ACTACT	145151500	7	5	69	1	0	1	1	0	0	0	0	0	4135	1174	41	0	643	0	CYC1	8	145151500	In_Frame_Ins	INS	-	TCGA-WC-A883-01A-12D-A39W-08		145151500	1212522	7	1288											
ZNF251	90987	broad.mit.edu	37	8	145947729	145947729	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr8:145947729C>T	ENST00000292562.7	-	5	1591	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	439					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AAAGGCTTTGCCGCACTCATT	0.468																																						ENST00000292562.7											0			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(1315-1317)gGc>gAc	zinc finger protein 251						76	87	83					8																	145947729		2176	4285	6461	SO:0001583	missense	90987			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947729C>T	AK000435	AK000435	CCDS47944.1	CCDS47944.1	8q24.3	2013-01-08			2013-01-08			ENSG00000198169	ENSG00000198169	ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	13045	13045	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_138367	NM_138367		Approved		uc003zdv.4	uc003zdv.4	Q9BRH9	Q9BRH9	OTTHUMG00000165189	OTTHUMG00000165189	ENST00000292562.7:c.1316G>A	8.37:g.145947729C>T	ENSP00000292562:p.Gly439Asp		ZNF251_ENST00000524394.1_Intron	p.G439D	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1591	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		439		Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1316G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417212	0.62622	.	.	ENSG00000198169	ENST00000292562	T	0.01430	4.9	2.15	2.15	0.27550	2.15	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03390	0.0098	N	0.21097	0.63	0.34570	D	0.713292	D	0.89917	1.0	D	0.69824	0.966	T	0.56238	-0.8012	9	0.87932	D	0	-3.6415	12.0295	0.53390	0.0:1.0:0.0:0.0	.	439	Q9BRH9	ZN251_HUMAN	D	439	ENSP00000292562:G439D	ENSP00000292562:G439D	G	-	2	0	0	ZNF251	145918538	145918538	0.000000	0.05858	0.920000	0.36463	0.958000	0.62258	0.430000	0.21428	1.521000	0.48983	0.563000	0.77884	GGC		0.468	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1		-38.639192	-2	-2	98	98	NM_138367		4	6.613292	6.613292	174	0.022472	0	0	0	1	0	4	174	0.022472	T	145947729	C	T	145947729	3	4	69	1	0	0	0	0	1	0	0	0	17793	739	26	2	703	2	ZNF251	8	145947729	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08	796229	145947729	416293	8	1289											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		73.685294	1	1	113	113	NM_002072		24	74.378064	74.378064	38	0.387097	0	0	0	1	0	24	38	0.387097	G	80409488	T	G	80409488	3	3	69	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-A883-01A-12D-A39W-08		80409488	60803943	9	1290											
ZNF462	58499	broad.mit.edu	37	9	109691298	109691298	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr9:109691298G>A	ENST00000277225.5	+	3	5394	c.5105G>A	c.(5104-5106)tGt>tAt	p.C1702Y	ZNF462_ENST00000441147.2_Missense_Mutation_p.C547Y|ZNF462_ENST00000457913.1_Missense_Mutation_p.C1702Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1702					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGTGCCCTGTGTGCCTACACC	0.572																																						ENST00000277225.5											0			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5104-5106)tGt>tAt	zinc finger protein 462						108	92	97					9																	109691298		2203	4300	6503	SO:0001583	missense	58499			transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691298G>A	AB058706	AB058706	CCDS35096.1	CCDS35096.1	9q31.3	2008-02-05			2008-02-05			ENSG00000148143	ENSG00000148143	ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	21684	21684	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_021224	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	uc004bcz.3	Q96JM2	Q96JM2	OTTHUMG00000020438	OTTHUMG00000020438	ENST00000277225.5:c.5105G>A	9.37:g.109691298G>A	ENSP00000277225:p.Cys1702Tyr		ZNF462_ENST00000457913.1_Missense_Mutation_p.C1702Y|ZNF462_ENST00000441147.2_Missense_Mutation_p.C547Y	p.C1702Y			Q96JM2	ZN462_HUMAN			3	5394	+			1702		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5105G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455039	0.63290	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.26518	1.73;2.13;1.88;1.95	6.03	6.03	0.97812	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.30357	-0.9981	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1702;1702	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Y	1702;1702;585;547	ENSP00000277225:C1702Y;ENSP00000414570:C1702Y;ENSP00000363818:C585Y;ENSP00000397306:C547Y	ENSP00000277225:C1702Y	C	+	2	0	0	ZNF462	108731119	108731119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.861000	0.98227	0.655000	0.94253	TGT		0.572	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		24.066540	-4	-4	41	41	NM_021224		9	24.610125	24.610125	17	0.346154	0	0	0	1	0	9	17	0.346154	A	109691298	G	A	109691298	3	1	69	1	0	0	0	0	1	0	0	0	17923	1377	48	3	5111	3	ZNF462	9	109691298	Missense_Mutation	SNP	G	TCGA-WC-A883-01A-12D-A39W-08	29281810	109691298	31522133	10	1291											
USP15	9958	broad.mit.edu	37	12	62777866	62777866	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr12:62777866C>T	ENST00000280377.5	+	11	1314	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	USP15_ENST00000353364.3_Missense_Mutation_p.A390V|USP15_ENST00000393654.3_Missense_Mutation_p.A394V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	419	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGGTGGTTGCCGAAGAAGCC	0.348																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1255-1257)gCc>gTc	ubiquitin specific peptidase 15						104	102	103					12																	62777866		2202	4299	6501	SO:0001583	missense	9958			protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777866C>T	AB011101	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08		2006-07-18	2005-08-08							"Ubiquitin-specific peptidases"	"Ubiquitin-specific peptidases"	12613	12613	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604731	604731	"ubiquitin specific protease 15"		"ubiquitin specific protease 15"			12838346	12838346	Standard	Standard	NM_001252078	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	uc001src.2	Q9Y4E8	Q9Y4E8	OTTHUMG00000170186	OTTHUMG00000170186	ENST00000280377.5:c.1256C>T	12.37:g.62777866C>T	ENSP00000280377:p.Ala419Val		USP15_ENST00000393654.3_Missense_Mutation_p.A394V|USP15_ENST00000353364.3_Missense_Mutation_p.A390V	p.A419V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	11	1314	+			419		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1256C>T	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645750	0.87958	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.30448	4.07;4.07;1.53	5.16	5.16	0.70880	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.111049	0.64402	D	0.000008	T	0.61899	0.2384	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.65541	-0.6143	9	.	.	.	-14.3538	18.8461	0.92208	0.0:1.0:0.0:0.0	.	419;390	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	V	390;419;394	ENSP00000258123:A390V;ENSP00000280377:A419V;ENSP00000377264:A394V	.	A	+	2	0	0	USP15	61064133	61064133	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	7.651000	0.83577	2.690000	0.91761	0.655000	0.94253	GCC		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2		74.963953	5	5	75	75	NM_006313		25	75.204879	75.204879	33	0.431034	0	0	0	1	0	25	33	0.431034	T	62777866	C	T	62777866	3	4	69	1	0	0	0	0	1	0	0	0	17043	739	26	2	1207	2	USP15	12	62777866	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		62777866	71074029	11	1292											
ADCY4	196883	broad.mit.edu	37	14	24803705	24803705	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr14:24803705C>T	ENST00000310677.4	-	2	267	c.154G>A	c.(154-156)Ggc>Agc	p.G52S	ADCY4_ENST00000554068.2_Missense_Mutation_p.G52S|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000418030.2_Missense_Mutation_p.G52S|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	52					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTCACCCTGCCGCTGGCCCAG	0.637																																						ENST00000310677.4											0			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(154-156)Ggc>Agc	adenylate cyclase 4						4	5	5					14																	24803705		1978	3951	5929	SO:0001583	missense	196883			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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24803705C>T	AF497516	AF497516	CCDS9627.1	CCDS9627.1	14q11.2	2013-02-04			2013-02-04			ENSG00000129467	ENSG00000129467	ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	"Adenylate cyclases"	235	235	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600292	600292						7766992	7766992	Standard	Standard	NM_001198592	NM_001198592		Approved	AC4	uc001woy.3	uc001woy.3	Q8NFM4	Q8NFM4	OTTHUMG00000029347	OTTHUMG00000029347	ENST00000310677.4:c.154G>A	14.37:g.24803705C>T	ENSP00000312126:p.Gly52Ser		ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000418030.2_Missense_Mutation_p.G52S|ADCY4_ENST00000396747.3_5'UTR|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000554068.2_Missense_Mutation_p.G52S	p.G52S	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	2	267	-			52		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.154G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303339	0.81136	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.76316	-1.01;-1.01;-1.01	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.47455	D	0.000238	T	0.74329	0.3702	L	0.45137	1.4	0.80722	D	1	D;B	0.57571	0.98;0.043	P;B	0.48270	0.572;0.017	T	0.69217	-0.5203	10	0.10111	T	0.7	.	16.8266	0.85933	0.0:1.0:0.0:0.0	.	52;52	G3V258;Q8NFM4	.;ADCY4_HUMAN	S	52	ENSP00000312126:G52S;ENSP00000452250:G52S;ENSP00000393177:G52S	ENSP00000312126:G52S	G	-	1	0	0	ADCY4	23873545	23873545	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.722000	0.61958	2.838000	0.97847	0.655000	0.94253	GGC		0.637	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		12.412801	5	5	10	10			4	12.820693	12.820693	1	0.8	0	0	0	1	0	4	1	0.8	T	24803705	C	T	24803705	3	4	69	1	0	0	0	0	1	0	0	0	296	652	23	1	3179	1	ADCY4	14	24803705	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		24803705	82545835	12	1293											
PSG4	5672	broad.mit.edu	37	19	43708091	43708091	+	Missense_Mutation	SNP	T	T	A			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr19:43708091T>A	ENST00000405312.3	-	2	614	c.377A>T	c.(376-378)aAg>aTg	p.K126M	PSG4_ENST00000433626.2_Missense_Mutation_p.K126M|PSG4_ENST00000244295.9_Missense_Mutation_p.K126M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	126	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCGCGTCGCTTTATGATGTG	0.507																																						ENST00000405312.3											0			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(376-378)aAg>aTg	pregnancy specific beta-1-glycoprotein 4						257	261	260					19																	43708091		2139	4273	6412	SO:0001583	missense	5672			defense response|female pregnancy	extracellular region		g.chr19:43708091T>A			CCDS33039.1, CCDS46093.1, CCDS62695.1	CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			2013-01-29			ENSG00000243137	ENSG00000243137	ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	9521	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	"pregnancy-specific beta-1-glycoprotein 4"	176393	176393						2783133	2783133	Standard	Standard	NM_002780	NM_002780		Approved		uc002ovy.4	uc002ovy.4	Q00888	Q00888	OTTHUMG00000151544	OTTHUMG00000151544	ENST00000405312.3:c.377A>T	19.37:g.43708091T>A	ENSP00000384770:p.Lys126Met		PSG4_ENST00000244295.9_Missense_Mutation_p.K126M|PSG4_ENST00000433626.2_Missense_Mutation_p.K126M	p.K126M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			2	614	-		Prostate(69;0.00682)	126	Ig-like V-type.	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.377A>T	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	10.47	1.359904	0.24598	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.01599	4.74;4.74;4.74;4.74	1.65	0.528	0.17089	1.65	0.528	0.17089	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04003	0.0112	L	0.61218	1.895	0.09310	N	1	D;B;B	0.61080	0.989;0.452;0.006	P;B;B	0.52957	0.714;0.388;0.111	T	0.38929	-0.9638	9	0.66056	D	0.02	.	4.4499	0.11616	0.0:0.0:0.3501:0.6499	.	126;126;126	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	M	126;126;126;142	ENSP00000244295:K126M;ENSP00000384770:K126M;ENSP00000387864:K126M;ENSP00000388134:K142M	ENSP00000244295:K126M	K	-	2	0	0	PSG4	48399931	48399931	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.103000	0.10940	0.097000	0.17492	0.145000	0.16022	AAG		0.507	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1		221.084905	99	99	257	257	NM_213633		75	223.095233	223.095233	117	0.390625	0	0	0	1	0	75	117	0.390625	A	43708091	T	A	43708091	3	1	69	1	0	0	0	0	1	0	0	0	12657	1609	56	5	902	5	PSG4	19	43708091	Missense_Mutation	SNP	T	TCGA-WC-A883-01A-12D-A39W-08		43708091	15420892	13	1294											
MATN4	8785	broad.mit.edu	37	20	43926902	43926902	+	Missense_Mutation	SNP	C	C	T	rs150948243		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr20:43926902C>T	ENST00000372754.1	-	7	1465	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	MATN4_ENST00000372751.4_Missense_Mutation_p.R296H|MATN4_ENST00000372756.1_Missense_Mutation_p.R445H|MATN4_ENST00000537548.1_Missense_Mutation_p.R445H|MATN4_ENST00000360607.6_Missense_Mutation_p.R404H|MATN4_ENST00000342716.4_Missense_Mutation_p.R445H|MATN4_ENST00000353917.5_Missense_Mutation_p.R363H			O95460	MATN4_HUMAN	matrilin 4	486	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTTAAGGGCACGGGGCCGTGC	0.662													C|||	1	0.000199681	0	0.0014	5008	,	,		17522	0		0	False		,,,				2504	0					ENST00000537548.1											0			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1333-1335)cGt>cAt	matrilin 4	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	66	56	59		1334,1211,1088	5.5	0.9	20	dbSNP_134	59	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense,missense	MATN4	NM_003833.3,NM_030590.2,NM_030592.2	29,29,29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	445/582,404/541,363/500	43926902	4,13002	2203	4300	6503	SO:0001583	missense	8785				extracellular region	protein binding	g.chr20:43926902C>T	AJ007581	AJ007581	CCDS13348.1, CCDS46607.1	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			2008-07-07			ENSG00000124159	ENSG00000124159	ENSG00000124159	ENSG00000124159				6910	6910	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603897	603897						9827539, 9027493	9827539, 9027493	Standard	Standard	NM_003833	NM_003833		Approved		uc002xnn.2	uc002xnn.2	O95460	O95460	OTTHUMG00000033043	OTTHUMG00000033043	ENST00000372754.1:c.1457G>A	20.37:g.43926902C>T	ENSP00000361840:p.Arg486His		MATN4_ENST00000372751.4_Missense_Mutation_p.R296H|MATN4_ENST00000342716.4_Missense_Mutation_p.R445H|MATN4_ENST00000353917.5_Missense_Mutation_p.R363H|MATN4_ENST00000372754.1_Missense_Mutation_p.R486H|MATN4_ENST00000360607.6_Missense_Mutation_p.R404H|MATN4_ENST00000372756.1_Missense_Mutation_p.R445H	p.R445H			O95460	MATN4_HUMAN			8	1578	-		Myeloproliferative disorder(115;0.0122)	486	VWFA 2.	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1334G>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.150531	0.78001	0.0	4.65E-4	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.40144	N	0.001169	D	0.82323	0.5012	L	0.46947	1.48	0.23325	N	0.997903	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.67725	0.953;0.813;0.852	T	0.74293	-0.3712	10	0.42905	T	0.14	.	12.0539	0.53522	0.1837:0.8163:0.0:0.0	.	363;404;445	A6NNA4;O95460-4;O95460-2	.;.;.	H	296;486;445;363;404;445;445;486;296	ENSP00000361839:R296H;ENSP00000361840:R486H;ENSP00000361842:R445H;ENSP00000243983:R363H;ENSP00000353819:R404H;ENSP00000343164:R445H;ENSP00000440328:R445H;ENSP00000361837:R296H	ENSP00000255132:R486H	R	-	2	0	0	MATN4	43360316	43360316	0.723000	0.28027	0.944000	0.38274	0.924000	0.55760	2.027000	0.41078	2.559000	0.86315	0.644000	0.83932	CGT		0.662	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		118.318412	16	16	60	60			36	120.034175	120.034175	16	0.692308	0	0	0	1	0	36	16	0.692308	T	43926902	C	T	43926902	3	4	69	1	0	0	0	0	1	0	0	0	9336	536	19	1	427	1	MATN4	20	43926902	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		43926902	19098618	14	1295											
EMID1	129080	broad.mit.edu	37	22	29621189	29621189	+	Silent	SNP	G	G	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr22:29621189G>T	ENST00000404820.3	+	4	514	c.387G>T	c.(385-387)cgG>cgT	p.R129R	EMID1_ENST00000404755.3_Silent_p.R129R|EMID1_ENST00000334018.6_Silent_p.R129R|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	127						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TGGCGCTTCGGCCCACAGCCT	0.627																																						ENST00000334018.6											0			NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(385-387)cgG>cgT	EMI domain containing 1						99	92	94					22																	29621189		2203	4300	6503	SO:0001819	synonymous_variant	129080				collagen		g.chr22:29621189G>T	AJ416090	AJ416090	CCDS33630.1	CCDS33630.1	22q12.2	2009-08-04			2009-08-04			ENSG00000186998	ENSG00000186998	ENSG00000186998	ENSG00000186998		"EMI domain containing"	"EMI domain containing"	18036	18036	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926	608926						12221002	12221002	Standard	Standard	NM_001267895	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	uc003aem.4	Q96A84	Q96A84	OTTHUMG00000151013	OTTHUMG00000151013	ENST00000404820.3:c.387G>T	22.37:g.29621189G>T			EMID1_ENST00000404820.3_Silent_p.R129R|EMID1_ENST00000404755.3_Silent_p.R129R|EMID1_ENST00000484039.1_3'UTR	p.R129R	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			4	575	+			127		B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	ENST00000404820.3	37	c.387G>T																																																																																										0.627	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1		79.241591	22	22	77	77	NM_133455		26	79.473958	79.473958	34	0.433333	1	0	1.77063e-15	1	1.77063e-15	26	34	0.433333	T	29621189	G	T	29621189	2	4	69	1	0	0	0	0	0	0	0	1	5091	1190	42	5		5	EMID1	22	29621189	Silent	SNP	G	TCGA-WC-A883-01A-12D-A39W-08		29621189	21683377	15	1296											
DGKK	139189	broad.mit.edu	37	X	50213356	50213356	+	RNA	SNP	C	C	G			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chrX:50213356C>G	ENST00000376025.2	-	0	381							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggggccggctctgtggcaggt	0.667																																						ENST00000376025.2											0			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45							diacylglycerol kinase, kappa						54	68	64					X																	50213356		1825	4051	5876			139189			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213356C>G	AB183864	AB183864	CCDS75980.1	CCDS75980.1	Xp11.22	2006-02-08			2006-02-08				ENSG00000274588		ENSG00000274588				32395	32395	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300837	300837						16210324	16210324	Standard	Standard	NM_001013742	NM_001013742		Approved		uc010njr.2	uc010njr.2	Q5KSL6	Q5KSL6				X.37:g.50213356C>G							Q5KSL6	DGKK_HUMAN			0	381	-	Ovarian(276;0.236)				B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																											0.667	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1		243.951886	34	34	307	307	NM_001013742		78	244.115711	244.115711	89	0.467066	0	0	0	1	0	78	89	0.467066	G	50213356	C	G	50213356	1	3	69	0	1	0	0	0	0	0	0	0	4472	922	32	5		5	DGKK	23	50213356	RNA	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		50213356	105057204	16	1297											
UBR4	23352	broad.mit.edu	37	1	19488948	19488948	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr1:19488948G>A	ENST00000375254.3	-	35	4949	c.4922C>T	c.(4921-4923)gCg>gTg	p.A1641V	UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375267.2_Missense_Mutation_p.A1641V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1641					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCTTCCACCGCCAACTCCTC	0.502																																						ENST00000375267.2											0			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4921-4923)gCg>gTg	ubiquitin protein ligase E3 component n-recognin 4						133	123	126					1																	19488948		2203	4300	6503	SO:0001583	missense	23352			interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19488948G>A	AF348492	AF348492	CCDS189.1	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	"Ubiquitin protein ligase E3 component n-recognins"	30313	30313	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609890	609890	"zinc finger, UBR1 type 1"	ZUBR1	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	14702039, 10718198, 16055722	Standard	Standard	XM_005245802	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	uc001bbi.3	Q5T4S7	Q5T4S7	OTTHUMG00000002498	OTTHUMG00000002498	ENST00000375254.3:c.4922C>T	1.37:g.19488948G>A	ENSP00000364403:p.Ala1641Val		UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375254.3_Missense_Mutation_p.A1641V	p.A1641V			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	35	4925	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1641		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4922C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157780	0.78114	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.08	6.08	0.98989	6.08	6.08	0.98989	.	0.056777	0.64402	D	0.000001	T	0.41534	0.1163	N	0.12182	0.205	0.80722	D	1	P	0.43662	0.814	B	0.26693	0.072	T	0.42582	-0.9443	10	0.32370	T	0.25	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1641	Q5T4S7	UBR4_HUMAN	V	1641;1641;1641;1641;351;857	ENSP00000364403:A1641V;ENSP00000364416:A1641V;ENSP00000364365:A1641V;ENSP00000364374:A1641V	ENSP00000364365:A1641V	A	-	2	0	0	UBR4	19361535	19361535	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.583000	0.82559	2.894000	0.99253	0.591000	0.81541	GCG		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		-32.092830	-42	-42	128	128	NM_020765		4	6.744308	6.744308	152	0.025641	0	0	0	1	0	4	152	0.025641	A	19488948	G	A	19488948	3	1	70	1	0	0	0	0	1	0	0	0	16901	1087	38	1	10917	1	UBR4	1	19488948	Missense_Mutation	SNP	G	TCGA-WC-A884-01A-11D-A39W-08		19488948	229761673	1	1298											
PTCH2	8643	broad.mit.edu	37	1	45293304	45293304	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr1:45293304G>A	ENST00000372192.3	-	15	2271	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PTCH2_ENST00000447098.2_Missense_Mutation_p.T714M	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	714					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACCACATCCGTCAGGGCCAG	0.632									Basal Cell Nevus syndrome																													ENST00000447098.2											0			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2140-2142)aCg>aTg	patched 2						70	76	74					1																	45293304		2203	4300	6503	SO:0001583	missense	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293304G>A	AF091501	AF091501	CCDS516.1, CCDS53312.1	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425	ENSG00000117425	ENSG00000117425				9586	9586	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603673	603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"		"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	9811851, 9931336	Standard	Standard	NM_003738	NM_003738		Approved		uc010olf.2	uc010olf.2	Q9Y6C5	Q9Y6C5	OTTHUMG00000008490	OTTHUMG00000008490	ENST00000372192.3:c.2141C>T	1.37:g.45293304G>A	ENSP00000361266:p.Thr714Met		PTCH2_ENST00000372192.3_Missense_Mutation_p.T714M	p.T714M	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			15	2152	-	Acute lymphoblastic leukemia(166;0.155)		714		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.2141C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696360	0.68386	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.93076	-3.15;-3.16	4.6	4.6	0.57074	4.6	4.6	0.57074	.	0.000000	0.40818	N	0.001018	D	0.95236	0.8455	M	0.64080	1.96	0.58432	D	0.999999	P;D	0.76494	0.903;0.999	B;P	0.58970	0.355;0.849	D	0.95336	0.8434	10	0.52906	T	0.07	-12.2555	17.7904	0.88551	0.0:0.0:1.0:0.0	.	714;714	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	M	714	ENSP00000389703:T714M;ENSP00000361266:T714M	ENSP00000361266:T714M	T	-	2	0	0	PTCH2	45065891	45065891	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.152000	0.94680	2.276000	0.75962	0.557000	0.71058	ACG		0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4		86.561600	-12	-12	68	68	NM_003738		29	87.156302	87.156302	43	0.402778	0	0	0	1	0	29	43	0.402778	A	45293304	G	A	45293304	3	1	70	1	0	0	0	0	1	0	0	0	12731	1145	40	1	1522	1	PTCH2	1	45293304	Missense_Mutation	SNP	G	TCGA-WC-A884-01A-11D-A39W-08	25804356	45293304	203957317	2	1299											
ALCAM	214	broad.mit.edu	37	3	105253508	105253508	+	Splice_Site	SNP	G	G	C			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr3:105253508G>C	ENST00000306107.5	+	6	1049	c.549G>C	c.(547-549)gcG>gcC	p.A183A	ALCAM_ENST00000389927.4_5'UTR|ALCAM_ENST00000472644.2_Splice_Site_p.A183A|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Splice_Site_p.A132A	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	183	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTTCTTCAGCGGTGGTCATAA	0.403																																						ENST00000306107.5											0			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(547-549)gcG>gcC	activated leukocyte cell adhesion molecule						98	98	98					3																	105253508		2203	4300	6503	SO:0001630	splice_region_variant	214			cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105253508G>C	AK054632	AK054632	CCDS33810.1, CCDS58841.1	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017	ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	400	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601662	601662	"activated leucocyte cell adhesion molecule"		"activated leucocyte cell adhesion molecule"			7760007	7760007	Standard	Standard	NM_001627	NM_001627		Approved	CD166, MEMD	uc003dvx.3	uc003dvx.3	Q13740	Q13740	OTTHUMG00000159192	OTTHUMG00000159192	ENST00000306107.5:c.548-1G>C	3.37:g.105253508G>C			ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Splice_Site_p.A183A|ALCAM_ENST00000389927.4_5'UTR|ALCAM_ENST00000486979.2_Splice_Site_p.A132A	p.A183A	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			6	1049	+			183	Ig-like V-type 2.	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Splice_Site	SNP	ENST00000306107.5	37	c.549G>C	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640046	0.29157	.	.	ENSG00000170017	ENST00000465413	.	.	.	5.54	0.919	0.19392	5.54	0.919	0.19392	.	.	.	.	.	T	0.51787	0.1695	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39901	-0.9591	4	.	.	.	.	5.7564	0.18176	0.1724:0.0:0.279:0.5485	.	.	.	.	R	31	.	.	G	+	1	0	0	ALCAM	106736198	106736198	0.872000	0.30054	0.211000	0.23655	0.977000	0.68977	1.162000	0.31786	0.348000	0.23949	0.650000	0.86243	GGT		0.403	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1		-16.422228	-25	-25	75	75	NM_001627	Silent	4	6.893712	6.893712	98	0.039216	0	0	0	1	0	4	98	0.039216	C	105253508	G	C	105253508	5	2	70	1	0	0	0	0	0	0	1	0	487	1130	39	5	571	5	ALCAM	3	105253508	Splice_Site	SNP	G	TCGA-WC-A884-01A-11D-A39W-08		105253508	92768922	3	1300			1	6		2	2	33	N	G_C	1.757274e-05
ALCAM	214	broad.mit.edu	37	3	105253540	105253540	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr3:105253540C>A	ENST00000306107.5	+	6	1081	c.581C>A	c.(580-582)cCa>cAa	p.P194Q	ALCAM_ENST00000389927.4_Missense_Mutation_p.P3Q|ALCAM_ENST00000472644.2_Missense_Mutation_p.P194Q|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.P143Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	194	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAATGGACCCAGTGACTCAG	0.418																																						ENST00000306107.5											0			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(580-582)cCa>cAa	activated leukocyte cell adhesion molecule						137	134	135					3																	105253540		2203	4300	6503	SO:0001583	missense	214			cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105253540C>A	AK054632	AK054632	CCDS33810.1, CCDS58841.1	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017	ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	400	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601662	601662	"activated leucocyte cell adhesion molecule"		"activated leucocyte cell adhesion molecule"			7760007	7760007	Standard	Standard	NM_001627	NM_001627		Approved	CD166, MEMD	uc003dvx.3	uc003dvx.3	Q13740	Q13740	OTTHUMG00000159192	OTTHUMG00000159192	ENST00000306107.5:c.581C>A	3.37:g.105253540C>A	ENSP00000305988:p.Pro194Gln		ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.P194Q|ALCAM_ENST00000389927.4_Missense_Mutation_p.P3Q|ALCAM_ENST00000486979.2_Missense_Mutation_p.P143Q	p.P194Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			6	1081	+			194	Ig-like V-type 2.	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.581C>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330491	0.41297	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	T;T;T;T	0.77358	1.05;1.05;1.05;-1.09	5.84	4.96	0.65561	5.84	4.96	0.65561	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324116	0.37577	N	0.002021	T	0.72309	0.3444	M	0.64997	1.995	0.20074	N	0.999935	B;B;B	0.17268	0.021;0.003;0.003	B;B;B	0.13407	0.008;0.009;0.009	T	0.58792	-0.7574	10	0.23302	T	0.38	-4.2975	10.8305	0.46656	0.2436:0.6243:0.1321:0.0	.	3;194;194	Q6ZS95;B4DTU0;Q13740	.;.;CD166_HUMAN	Q	194;194;143;3	ENSP00000305988:P194Q;ENSP00000419236:P194Q;ENSP00000418213:P143Q;ENSP00000374577:P3Q	ENSP00000305988:P194Q	P	+	2	0	0	ALCAM	106736230	106736230	0.155000	0.22806	0.990000	0.47175	0.979000	0.70002	0.068000	0.14531	1.455000	0.47813	-0.188000	0.12872	CCA		0.418	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1		-31.641035	-16	-16	127	127	NM_001627		4	6.666349	6.666349	150	0.025974	1	0	2.56e-06	1	2.92571e-06	4	150	0.025974	A	105253540	C	A	105253540	3	1	70	1	0	0	0	0	1	0	0	0	487	594	21	5	603	5	ALCAM	3	105253540	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	32	105253540	92768890	4	1301			1	6		2	2	33	N	G_C	1.757274e-05
TRIM7	81786	broad.mit.edu	37	5	180622297	180622297	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr5:180622297delC	ENST00000274773.7	-	7	1466	c.1405delG	c.(1405-1407)gtgfs	p.V469fs	CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000393315.1_Frame_Shift_Del_p.V261fs|TRIM7_ENST00000422067.2_Frame_Shift_Del_p.V261fs|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Frame_Shift_Del_p.V261fs|TRIM7_ENST00000393319.3_Frame_Shift_Del_p.V287fs	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	469	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		ACGGCTCCCACCTCCAGGTCC	0.672																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1											0			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(781-783)gtgfs	tripartite motif containing 7						41	26	31					5																	180622297		2193	4297	6490	SO:0001589	frameshift_variant	81786				cytoplasm|nucleus	zinc ion binding	g.chr5:180622297delC	AF220032	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054	ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	16278	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	609315	"tripartite motif-containing 7"		"tripartite motif-containing 7"			11331580	11331580	Standard	Standard	NM_203294	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	uc003mmz.1	Q9C029	Q9C029	OTTHUMG00000130963	OTTHUMG00000130963	ENST00000274773.7:c.1405delG	5.37:g.180622297delC	ENSP00000274773:p.Val469fs		TRIM7_ENST00000422067.2_Frame_Shift_Del_p.V261fs|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Frame_Shift_Del_p.V287fs|TRIM7_ENST00000361809.3_Frame_Shift_Del_p.V261fs|TRIM7_ENST00000274773.7_Frame_Shift_Del_p.V469fs	p.V261fs	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1478	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	469		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Frame_Shift_Del	DEL	ENST00000274773.7	37	c.781delG	CCDS4462.1																																																																																									0.672	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	.	.	3	3	10	10	NM_203296		2			4	0.33						2	4	0.33	-	180622297	C	-	180622297	7	5	70	1	0	1	0	1	0	0	0	0	16540	507	18	0	134	0	TRIM7	5	180622297	Frame_Shift_Del	DEL	C	TCGA-WC-A884-01A-11D-A39W-08		180622297	292963	5	1302											
PHF3	23469	broad.mit.edu	37	6	64423006	64423006	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr6:64423006C>A	ENST00000262043.3	+	16	5862	c.5522C>A	c.(5521-5523)cCc>cAc	p.P1841H	PHF3_ENST00000393387.1_Missense_Mutation_p.P1841H			Q92576	PHF3_HUMAN	PHD finger protein 3	1841	Pro-rich.				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)			CCATTACTTCCCCCTCCAGGC	0.517																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3											0			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(5521-5523)cCc>cAc	PHD finger protein 3						134	141	139					6																	64423006		2203	4300	6503	SO:0001583	missense	23469			multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64423006C>A	AF091622	AF091622	CCDS4966.1	CCDS4966.1	6q12	2013-09-24			2013-09-24			ENSG00000118482	ENSG00000118482	ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	"Zinc fingers, PHD-type"	8921	8921	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607789	607789						11856869	11856869	Standard	Standard	XM_005248701	XM_005248701		Approved		uc003pep.1	uc003pep.1	Q92576	Q92576	OTTHUMG00000014952	OTTHUMG00000014952	ENST00000262043.3:c.5522C>A	6.37:g.64423006C>A	ENSP00000262043:p.Pro1841His		PHF3_ENST00000393387.1_Missense_Mutation_p.P1841H	p.P1841H			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5862	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1841	Pro-rich.	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.5522C>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421969	0.43020	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.47528	0.84;0.84	5.97	5.97	0.96955	5.97	5.97	0.96955	.	0.000000	0.39341	N	0.001398	T	0.47507	0.1449	L	0.27053	0.805	0.46376	D	0.999014	D	0.76494	0.999	D	0.63488	0.915	T	0.25710	-1.0124	9	.	.	.	-1.3917	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1841	Q92576	PHF3_HUMAN	H	1841	ENSP00000262043:P1841H;ENSP00000377048:P1841H	.	P	+	2	0	0	PHF3	64480965	64480965	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	4.411000	0.59781	2.836000	0.97738	0.655000	0.94253	CCC		0.517	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		-38.057229	-14	-14	139	139			4	6.345354	6.345354	171	0.022857	1	0	0.014758	1	0.0157419	4	171	0.022857	A	64423006	C	A	64423006	3	1	70	1	0	0	0	0	1	0	0	0	11836	623	22	5	5580	5	PHF3	6	64423006	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08		64423006	106692061	6	1303											
UNC13B	10497	broad.mit.edu	37	9	35380591	35380591	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr9:35380591G>A	ENST00000378495.3	+	17	2305	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	UNC13B_ENST00000378496.4_Missense_Mutation_p.E695K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E707K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	695					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AACCATCATTGAGGTTCGGAC	0.493																																						ENST00000378495.3											0			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2083-2085)Gag>Aag	unc-13 homolog B (C. elegans)						210	168	182					9																	35380591		2203	4300	6503	SO:0001583	missense	10497			excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35380591G>A	AF020202	AF020202	CCDS6579.1	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722	ENSG00000198722	ENSG00000198722				12566	12566	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605836	605836	"unc-13-like (C. elegans)"	UNC13	"unc-13-like (C. elegans)"	UNC13		9607201	9607201	Standard	Standard	NM_006377	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	uc003zwq.3	O14795	O14795	OTTHUMG00000019856	OTTHUMG00000019856	ENST00000378495.3:c.2083G>A	9.37:g.35380591G>A	ENSP00000367756:p.Glu695Lys		UNC13B_ENST00000396787.1_Missense_Mutation_p.E707K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E695K	p.E695K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		17	2305	+	all_epithelial(49;0.212)		695		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.2083G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420339	0.96111	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.70516	-0.49;-0.49;-0.49	5.4	5.4	0.78164	5.4	5.4	0.78164	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	M	0.84683	2.71	0.80722	D	1	P;P	0.48407	0.91;0.707	P;B	0.45577	0.486;0.255	D	0.83755	0.0211	10	0.87932	D	0	-18.5232	18.1339	0.89610	0.0:0.0:1.0:0.0	.	695;695	F8W8M9;O14795	.;UN13B_HUMAN	K	707;695;695;282	ENSP00000380006:E707K;ENSP00000367756:E695K;ENSP00000367757:E695K	ENSP00000367756:E695K	E	+	1	0	0	UNC13B	35370591	35370591	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	9.760000	0.98935	2.539000	0.85634	0.591000	0.81541	GAG		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1		-11.979436	-29	-29	76	76	NM_006377		4	8.007519	8.007519	86	0.044444	0	0	0	1	0	4	86	0.044444	A	35380591	G	A	35380591	3	1	70	1	0	0	0	0	1	0	0	0	16982	1291	45	3	2149	3	UNC13B	9	35380591	Missense_Mutation	SNP	G	TCGA-WC-A884-01A-11D-A39W-08		35380591	105832840	7	1304											
OR51I2	390064	broad.mit.edu	37	11	5475623	5475623	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:5475623C>T	ENST00000341449.2	+	1	986	c.905C>T	c.(904-906)gCc>gTc	p.A302V	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	302					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCGCCGAGCCATTTTCCGC	0.433																																						ENST00000341449.2											0			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(904-906)gCc>gTc	olfactory receptor, family 51, subfamily I, member 2						127	128	128					11																	5475623		2201	4297	6498	SO:0001583	missense	390064			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475623C>T	BK004381	BK004381	CCDS31383.1	CCDS31383.1	11p15.4	2012-08-09			2012-08-09			ENSG00000187918	ENSG00000187918	ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	15201	15201	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004754	NM_001004754		Approved		uc010qzf.2	uc010qzf.2	Q9H344	Q9H344	OTTHUMG00000066902	OTTHUMG00000066902	ENST00000341449.2:c.905C>T	11.37:g.5475623C>T	ENSP00000341987:p.Ala302Val		HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.A302V	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	986	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	302		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.905C>T	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335702	0.24253	.	.	ENSG00000187918	ENST00000341449	T	0.44881	0.91	5.3	3.33	0.38152	5.3	3.33	0.38152	.	0.403128	0.23506	N	0.047458	T	0.45677	0.1354	M	0.73753	2.245	0.09310	N	1	P	0.48694	0.914	B	0.44044	0.439	T	0.45512	-0.9256	10	0.54805	T	0.06	.	11.4583	0.50195	0.0:0.6204:0.3796:0.0	.	302	Q9H344	O51I2_HUMAN	V	302	ENSP00000341987:A302V	ENSP00000341987:A302V	A	+	2	0	0	OR51I2	5432199	5432199	0.022000	0.18835	0.947000	0.38551	0.074000	0.17049	0.880000	0.28159	1.450000	0.47717	0.563000	0.77884	GCC		0.433	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1		-22.276843	-48	-48	100	100	NM_001004754		4	7.628769	7.628769	121	0.032	0	0	0	1	0	4	121	0.032	T	5475623	C	T	5475623	3	4	70	1	0	0	0	0	1	0	0	0	11101	739	26	2	907	2	OR51I2	11	5475623	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08		5475623	129530893	8	1305											
TMEM179B	374395	broad.mit.edu	37	11	62557411	62557411	+	Silent	SNP	C	C	T	rs149169067		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:62557411C>T	ENST00000333449.4	+	5	557	c.552C>T	c.(550-552)gtC>gtT	p.V184V	NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	184						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGCTCCAGGTCGTGCAGTGGA	0.557																																						ENST00000333449.4											0			kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(550-552)gtC>gtT	transmembrane protein 179B	C		0,4402		0,0,2201	188	179	182		552	-3.4	0	11	dbSNP_134	182	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	TMEM179B	NM_199337.2		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		184/220	62557411	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	374395				integral to membrane		g.chr11:62557411C>T	BC051355	BC051355	CCDS8036.1	CCDS8036.1	11q12.3	2007-11-26			2007-11-26			ENSG00000185475	ENSG00000185475	ENSG00000185475	ENSG00000185475				33744	33744	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_199337	NM_199337		Approved		uc001nvd.4	uc001nvd.4	Q7Z7N9	Q7Z7N9	OTTHUMG00000167611	OTTHUMG00000167611	ENST00000333449.4:c.552C>T	11.37:g.62557411C>T			TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	p.V184V	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN			5	557	+			184			Silent	SNP	ENST00000333449.4	37	c.552C>T	CCDS8036.1																																																																																									0.557	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2		-13.005977	-28	-28	138	138	NM_199337		8	17.184293	17.184293	137	0.055172	0	0	0	1	0	8	137	0.055172	T	62557411	C	T	62557411	2	4	70	1	0	0	0	0	0	0	0	1	16094	871	31	1		1	TMEM179B	11	62557411	Silent	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	57081788	62557411	72449105	9	1306											
UPK2	7379	broad.mit.edu	37	11	118827106	118827106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:118827106delC	ENST00000264031.2	+	1	81	c.46delC	c.(46-48)ctgfs	p.L17fs	UPK2_ENST00000534788.1_Intron|RP11-158I9.7_ENST00000584831.1_RNA	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	17					epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GATCCTGATTCTGCTGGCTCT	0.647																																						ENST00000264031.2											0			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5						c.(46-48)ctgfs	uroplakin 2						86	73	77					11																	118827106		2200	4295	6495	SO:0001589	frameshift_variant	7379			cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane		g.chr11:118827106delC	Y13645	Y13645	CCDS8404.1	CCDS8404.1	11q23	2008-07-21			2008-07-21				ENSG00000110375		ENSG00000110375				12579	12579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"uroplakin II", "uroplakin-2"	"uroplakin II", "uroplakin-2"	611558	611558						9515818, 9846985	9515818, 9846985	Standard	Standard	NM_006760	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	uc001puh.3	O00526	O00526			ENST00000264031.2:c.46delC	11.37:g.118827106delC	ENSP00000264031:p.Leu17fs		UPK2_ENST00000534788.1_Intron	p.L17fs	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	81	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)	17		B0YJ92|O00457|Q53YV0	Frame_Shift_Del	DEL	ENST00000264031.2	37	c.46delC	CCDS8404.1																																																																																									0.647	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389311.1	.	.	-1	-1	67	67	NM_006760		9			93	0.09						9	93	0.09	-	118827106	C	-	118827106	7	5	70	1	0	1	0	1	0	0	0	0	17006	912	32	0	48	0	UPK2	11	118827106	Frame_Shift_Del	DEL	C	TCGA-WC-A884-01A-11D-A39W-08	56269695	118827106	16179410	10	1307											
BEST3	144453	broad.mit.edu	37	12	70087541	70087541	+	Missense_Mutation	SNP	C	C	T	rs117505973		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr12:70087541C>T	ENST00000330891.5	-	4	620	c.394G>A	c.(394-396)Gtc>Atc	p.V132I	BEST3_ENST00000551160.1_Missense_Mutation_p.V26I|BEST3_ENST00000553096.1_Missense_Mutation_p.V26I|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000266661.4_Missense_Mutation_p.V26I|BEST3_ENST00000331471.4_Missense_Mutation_p.V132I|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_Missense_Mutation_p.V26I	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	132					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAGATTGACGTAGCGCATC	0.532													C|||	1	0.000199681	0	0	5008	,	,		17781	0		0.001	False		,,,				2504	0					ENST00000330891.5											0			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(394-396)Gtc>Atc	bestrophin 3	C	ILE/VAL	0,4406		0,0,2203	143	115	124		394	5.9	0.2	12	dbSNP_132	124	1,8599	1.2+/-3.3	0,1,4299	no	missense	BEST3	NM_032735.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	132/669	70087541	1,13005	2203	4300	6503	SO:0001583	missense	144453				chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70087541C>T	AF440758	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	17105	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607337	607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	12032738	Standard	Standard	NM_032735	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	uc001svg.3	Q8N1M1	Q8N1M1	OTTHUMG00000149919	OTTHUMG00000149919	ENST00000330891.5:c.394G>A	12.37:g.70087541C>T	ENSP00000332413:p.Val132Ile		BEST3_ENST00000331471.4_Missense_Mutation_p.V132I|BEST3_ENST00000266661.4_Missense_Mutation_p.V26I|BEST3_ENST00000553096.1_Missense_Mutation_p.V26I|BEST3_ENST00000393365.1_Missense_Mutation_p.V26I|BEST3_ENST00000551160.1_Missense_Mutation_p.V26I|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000533674.1_5'UTR	p.V132I	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		4	620	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		132		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.394G>A	CCDS8992.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.37	1.619973	0.28801	0.0	1.16E-4	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000553096;ENST00000552295;ENST00000266661;ENST00000551160;ENST00000393365	D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.056855	0.64402	D	0.000001	D	0.96583	0.8885	N	0.26162	0.8	0.39901	D	0.973901	P;B	0.38535	0.635;0.019	B;B	0.37508	0.252;0.01	D	0.96348	0.9256	10	0.39692	T	0.17	-22.1823	20.2187	0.98312	0.0:1.0:0.0:0.0	.	132;132	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	I	132;132;26;26;26;26;26	ENSP00000329064:V132I;ENSP00000332413:V132I;ENSP00000449548:V26I;ENSP00000447689:V26I;ENSP00000266661:V26I;ENSP00000449377:V26I;ENSP00000377032:V26I	ENSP00000266661:V26I	V	-	1	0	0	BEST3	68373808	68373808	0.993000	0.37304	0.212000	0.23672	0.485000	0.33311	3.083000	0.50136	2.780000	0.95670	0.655000	0.94253	GTC		0.532	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		48.962138	14	14	63	63	NM_152439		19	51.96528	51.96528	49	0.279412	0	0	0	1	0	19	49	0.279412	T	70087541	C	T	70087541	3	4	70	1	0	0	0	0	1	0	0	0	1406	536	19	1	1640	1	BEST3	12	70087541	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08		70087541	63764354	11	1308											
CUX2	23316	broad.mit.edu	37	12	111748381	111748381	+	Missense_Mutation	SNP	C	C	T	rs200707164		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr12:111748381C>T	ENST00000261726.6	+	15	1949	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	599					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CAAGCCCTGGCGCAAGCTCAC	0.607																																						ENST00000261726.6											0			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1795-1797)Cgc>Tgc	cut-like homeobox 2						55	62	60					12																	111748381		2067	4205	6272	SO:0001583	missense	23316				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111748381C>T	AB006631	AB006631	CCDS41837.1	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	"Homeoboxes / CUT class"	19347	19347	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610648	610648	"cut-like 2 (Drosophila)"	CUTL2	"cut-like 2 (Drosophila)"	CUTL2				Standard	Standard	NM_015267	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	uc001tsa.2	O14529	O14529	OTTHUMG00000169546	OTTHUMG00000169546	ENST00000261726.6:c.1795C>T	12.37:g.111748381C>T	ENSP00000261726:p.Arg599Cys			p.R599C	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			15	1949	+			599		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.1795C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462233	0.63513	.	.	ENSG00000111249	ENST00000261726	T	0.48201	0.82	4.77	3.78	0.43462	4.77	3.78	0.43462	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.58418	-0.7640	10	0.72032	D	0.01	-20.2025	13.8411	0.63439	0.255:0.745:0.0:0.0	.	599	O14529	CUX2_HUMAN	C	599	ENSP00000261726:R599C	ENSP00000261726:R599C	R	+	1	0	0	CUX2	110232764	110232764	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.316000	0.51960	2.201000	0.70794	0.313000	0.20887	CGC		0.607	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1		17.582582	6	6	62	62	NM_015267		12	29.289076	29.289076	78	0.133333	0	0	0	1	0	12	78	0.133333	T	111748381	C	T	111748381	3	4	70	1	0	0	0	0	1	0	0	0	4065	768	27	1	1853	1	CUX2	12	111748381	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	41660840	111748381	22103514	12	1309											
RPL36AL	6166	broad.mit.edu	37	14	50085633	50085633	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr14:50085633T>C	ENST00000298289.6	-	2	349	c.190A>G	c.(190-192)Aag>Gag	p.K64E	RP11-649E7.5_ENST00000555043.1_RNA|MGAT2_ENST00000305386.2_5'Flank	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	64					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					ACAATCTTCTTTGTGGTCTTA	0.483																																						ENST00000298289.6											0										c.(190-192)Aag>Gag	ribosomal protein L36a-like						125	118	121					14																	50085633		2203	4300	6503	SO:0001583	missense	6166			translation	ribosome	structural constituent of ribosome	g.chr14:50085633T>C	BC000741	BC000741	CCDS9689.1	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502	ENSG00000165502	ENSG00000165502		"L ribosomal proteins"	"L ribosomal proteins"	10346	10346	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180469	180469	"ribosomal protein L36a"	RPL36A	"ribosomal protein L36a"	RPL36A		1577483	1577483	Standard	Standard	NM_001001	NM_001001		Approved		uc001wwq.2	uc001wwq.2	Q969Q0	Q969Q0	OTTHUMG00000152330	OTTHUMG00000152330	ENST00000298289.6:c.190A>G	14.37:g.50085633T>C	ENSP00000346012:p.Lys64Glu			p.K64E	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN			2	349	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		64		Q3B7A5	Missense_Mutation	SNP	ENST00000298289.6	37	c.190A>G	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458582	0.63401	.	.	ENSG00000165502	ENST00000298289	T	0.68624	-0.34	4.16	4.16	0.48862	4.16	4.16	0.48862	Ribosomal protein, zinc-binding domain (1);	0.000000	0.64402	U	0.000001	T	0.64659	0.2618	.	.	.	0.39434	D	0.96713	B	0.23442	0.085	B	0.35312	0.2	T	0.68723	-0.5333	9	0.72032	D	0.01	-19.8244	11.9374	0.52880	0.0:0.0:0.0:1.0	.	64	Q969Q0	RL36L_HUMAN	E	64	ENSP00000346012:K64E	ENSP00000346012:K64E	K	-	1	0	0	RPL36AL	49155383	49155383	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	7.442000	0.80503	2.142000	0.66516	0.472000	0.43445	AAG		0.483	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2		44.021707	-5	-5	151	151			25	64.698262	64.698262	146	0.146199	0	0	0	1	0	25	146	0.146199	C	50085633	T	C	50085633	3	2	70	1	0	0	0	0	1	0	0	0	13588	1850	64	4	134	4	RPL36AL	14	50085633	Missense_Mutation	SNP	T	TCGA-WC-A884-01A-11D-A39W-08		50085633	57263907	13	1310											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		69.827011	-19	-19	62	62	NM_002067		23	69.975965	69.975965	29	0.442308	0	0	0	1	0	23	29	0.442308	T	3118942	A	T	3118942	3	4	70	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A884-01A-11D-A39W-08		3118942	56010041	14	1311											
EIF1AX	1964	broad.mit.edu	37	X	20156735	20156735	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:20156735C>G	ENST00000379607.5	-	2	225	c.22G>C	c.(22-24)Gga>Cga	p.G8R	EIF1AX_ENST00000379593.1_Intron|snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGAT	0.308																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(22-24)Gga>Cga	eukaryotic translation initiation factor 1A, X-linked						135	126	129					X																	20156735		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156735C>G	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A	"eukaryotic translation initiation factor 1A, X chromosome"	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.22G>C	X.37:g.20156735C>G	ENSP00000368927:p.Gly8Arg		EIF1AX_ENST00000379593.1_Intron	p.G8R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	225	-			8		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.22G>C	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599550	0.66332	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79143	0.4396	H	0.96365	3.81	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.86825	0.2007	9	0.87932	D	0	-2.5166	17.661	0.88193	0.0:1.0:0.0:0.0	.	8	P47813	IF1AX_HUMAN	R	8	ENSP00000368927:G8R	ENSP00000368927:G8R	G	-	1	0	0	EIF1AX	20066656	20066656	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGA		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		112.326215	-23	-23	137	137			35	112.409528	112.409528	30	0.538462	0	0	0	1	0	35	30	0.538462	G	20156735	C	G	20156735	3	3	70	1	0	0	0	0	1	0	0	0	4992	690	24	5	436	5	EIF1AX	23	20156735	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08		20156735	135113825	15	1312											
FAM47A	158724	broad.mit.edu	37	X	34148577	34148577	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:34148577T>C	ENST00000346193.3	-	1	1870	c.1819A>G	c.(1819-1821)Aaa>Gaa	p.K607E		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	607										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCACGGAGTTTTTCCGATGTG	0.438																																						ENST00000346193.3											0			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1819-1821)Aaa>Gaa	family with sequence similarity 47, member A						80	74	76					X																	34148577		2126	4251	6377	SO:0001583	missense	158724						g.chrX:34148577T>C	BC026171	BC026171	CCDS43926.1	CCDS43926.1	Xp21.1	2004-08-09			2004-08-09			ENSG00000185448	ENSG00000185448	ENSG00000185448	ENSG00000185448				29962	29962	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"	"similar to hypothetical protein FLJ35782"								12477932	12477932	Standard	Standard	NM_203408	NM_203408		Approved	MGC27003	uc004ddg.3	uc004ddg.3	Q5JRC9	Q5JRC9	OTTHUMG00000021339	OTTHUMG00000021339	ENST00000346193.3:c.1819A>G	X.37:g.34148577T>C	ENSP00000345029:p.Lys607Glu			p.K607E	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1870	-			607		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1819A>G	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	t	10.13	1.266095	0.23136	.	.	ENSG00000185448	ENST00000346193	T	0.42131	0.98	1.8	-0.229	0.13094	1.8	-0.229	0.13094	.	.	.	.	.	T	0.35913	0.0948	M	0.68317	2.08	0.09310	N	1	P	0.45827	0.867	P	0.44394	0.448	T	0.26744	-1.0094	9	0.12103	T	0.63	.	4.075	0.09899	0.0:0.5191:0.0:0.4809	.	607	Q5JRC9	FA47A_HUMAN	E	607	ENSP00000345029:K607E	ENSP00000345029:K607E	K	-	1	0	0	FAM47A	34058498	34058498	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.463000	0.06696	-0.148000	0.11234	-0.495000	0.04643	AAA		0.438	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1		99.946592	-13	-13	70	70	NM_203408		30	99.977616	99.977616	33	0.47619	0	0	0	1	0	30	33	0.47619	C	34148577	T	C	34148577	3	2	70	1	0	0	0	0	1	0	0	0	5569	1850	64	4	560	4	FAM47A	23	34148577	Missense_Mutation	SNP	T	TCGA-WC-A884-01A-11D-A39W-08	13991842	34148577	121121983	16	1313											
LONRF3	79836	broad.mit.edu	37	X	118109321	118109321	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:118109321C>T	ENST00000371628.3	+	1	609	c.578C>T	c.(577-579)gCg>gTg	p.A193V	LONRF3_ENST00000422289.2_5'Flank|LONRF3_ENST00000304778.7_Missense_Mutation_p.A193V	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	193							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CGGCGCTGTGCGCTGTGCGGG	0.677																																						ENST00000304778.7											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(577-579)gCg>gTg	LON peptidase N-terminal domain and ring finger 3						20	15	17					X																	118109321		2173	4211	6384	SO:0001583	missense	79836			proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118109321C>T	AK026265	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	21152	21152	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"ring finger protein 127"	RNF127	"ring finger protein 127"	RNF127				Standard	Standard	XM_005262476	XM_005262476		Approved	FLJ22612	uc004eqw.3	uc004eqw.3	Q496Y0	Q496Y0	OTTHUMG00000022262	OTTHUMG00000022262	ENST00000371628.3:c.578C>T	X.37:g.118109321C>T	ENSP00000360690:p.Ala193Val		LONRF3_ENST00000371628.3_Missense_Mutation_p.A193V	p.A193V	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN			1	741	+			193		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.578C>T	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801957	0.31869	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.17054	2.3;2.3;2.3	4.18	3.31	0.37934	4.18	3.31	0.37934	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.373188	0.23949	N	0.042962	T	0.11110	0.0271	L	0.36672	1.1	0.51482	D	0.999924	B;B	0.25235	0.121;0.104	B;B	0.23150	0.008;0.044	T	0.18241	-1.0343	10	0.59425	D	0.04	-11.6896	2.5756	0.04806	0.2791:0.5216:0.0:0.1993	.	193;193	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	V	193	ENSP00000360691:A193V;ENSP00000307732:A193V;ENSP00000360690:A193V	ENSP00000307732:A193V	A	+	2	0	0	LONRF3	117993349	117993349	0.331000	0.24713	0.921000	0.36526	0.867000	0.49689	0.547000	0.23299	2.083000	0.62718	0.529000	0.55759	GCG		0.677	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2		0.997774	13	13	36	36	NM_024778		3	7.348335	7.348335	33	0.083333	0	0	0	1	0	3	33	0.083333	T	118109321	C	T	118109321	3	4	70	1	0	0	0	0	1	0	0	0	8896	768	27	1	580	1	LONRF3	23	118109321	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	83960744	118109321	37161239	17	1314											
LUZP1	7798	broad.mit.edu	37	1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	rs146031719	byFrequency	TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478																																						ENST00000302291.4											0			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2251-2253)Cgg>Tgg	leucine zipper protein 1	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135	143	140		2251,2251	3.4	1	1	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	751/1077,751/1077	23418504	2,13004	2203	4300	6503	SO:0001583	missense	7798				nucleus		g.chr1:23418504G>A	BC051733	BC051733	CCDS30628.1	CCDS30628.1	1p36	2008-02-05			2008-02-05			ENSG00000169641	ENSG00000169641	ENSG00000169641	ENSG00000169641				14985	14985	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601422	601422						8812416	8812416	Standard	Standard	NM_033631	NM_033631		Approved	LUZP	uc010odv.1	uc010odv.1	Q86V48	Q86V48	OTTHUMG00000003227	OTTHUMG00000003227	ENST00000302291.4:c.2251C>T	1.37:g.23418504G>A	ENSP00000303758:p.Arg751Trp		LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W	p.R751W			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3052	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	751		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2251C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461067	0.63513	2.27E-4	1.16E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19105	2.37;2.37;2.37;2.17	5.27	3.37	0.38596	5.27	3.37	0.38596	.	0.158849	0.29707	N	0.011415	T	0.19287	0.0463	L	0.57536	1.79	0.28033	N	0.93406	B;B	0.26876	0.083;0.162	B;B	0.21917	0.027;0.037	T	0.12604	-1.0541	10	0.51188	T	0.08	.	7.6254	0.28210	0.0802:0.0:0.6097:0.31	.	751;751	Q86V48-2;Q86V48	.;LUZP1_HUMAN	W	751	ENSP00000393460:R751W;ENSP00000363752:R751W;ENSP00000303758:R751W;ENSP00000313705:R751W	ENSP00000303758:R751W	R	-	1	2	2	LUZP1	23291091	23291091	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.382000	0.44345	1.211000	0.43351	0.485000	0.47835	CGG		0.478	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		-32.337774	3	3	189	189	NM_033631		4	7.117834	7.117834	154	0.025316	0	0	0	1	0	4	154	0.025316	A	23418504	G	A	23418504	3	1	71	1	0	0	0	0	1	0	0	0	9086	1086	38	1	987	1	LUZP1	1	23418504	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		23418504	225832117	1	1315											
RTCD1	8634	broad.mit.edu	37	1	100741270	100741270	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr1:100741270A>G	ENST00000370128.4	+	7	900	c.731A>G	c.(730-732)aAt>aGt	p.N244S	RTCA_ENST00000260563.4_Missense_Mutation_p.N257S	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	244					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										GGCAATGGAAATGGAATAATG	0.363																																						ENST00000370128.4											0										c.(730-732)aAt>aGt	RNA 3'-terminal phosphate cyclase						94	97	96					1																	100741270		2203	4300	6503	SO:0001583	missense	8634			RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	g.chr1:100741270A>G	Y11651	Y11651	CCDS768.1, CCDS44178.1	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	ENSG00000137996	ENSG00000137996	6.5.1.4			17981	17981	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611286	611286	"RTC domain containing 1", "RNA terminal phosphate cyclase domain 1"	RTCD1	"RTC domain containing 1", "RNA terminal phosphate cyclase domain 1"	RTCD1		9184239	9184239	Standard	Standard	NM_003729	NM_003729		Approved	RPC, RTC1	uc001dtd.3	uc001dtd.3	O00442	O00442	OTTHUMG00000010920	OTTHUMG00000010920	ENST00000370128.4:c.731A>G	1.37:g.100741270A>G	ENSP00000359146:p.Asn244Ser		RTCA_ENST00000260563.4_Missense_Mutation_p.N257S	p.N244S	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN			7	900	+			244		Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	c.731A>G	CCDS768.1	.	.	.	.	.	.	.	.	.	.	A	0.493	-0.874326	0.02550	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.23	0.354	0.16063	5.23	0.354	0.16063	-terminal phosphate cyclase, subset, insert domain (2);-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase domain (1);RNA 3&apos (5);-terminal phosphate cyclase (1);	0.190054	0.56097	N	0.000033	T	0.03827	0.0108	N	0.00256	-1.76	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29119	-1.0022	9	0.19590	T	0.45	-8.0717	7.6287	0.28226	0.3542:0.1466:0.4992:0.0	.	257;244	O00442-2;O00442	.;RTC1_HUMAN	S	244;257	.	ENSP00000260563:N257S	N	+	2	0	0	RTCD1	100513858	100513858	1.000000	0.71417	0.732000	0.30844	0.772000	0.43724	0.838000	0.27572	-0.181000	0.10619	-0.250000	0.11733	AAT		0.363	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2		127.649095	1	1	100	100			38	127.673728	127.673728	41	0.481013	0	0	0	1	0	38	41	0.481013	G	100741270	A	G	100741270	3	3	71	1	0	0	0	0	1	0	0	0	13718	101	4	4	800	4	RTCD1	1	100741270	Missense_Mutation	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	77322766	100741270	148509351	2	1316											
ESRRG	2104	broad.mit.edu	37	1	216692613	216692613	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr1:216692613T>C	ENST00000408911.3	-	6	1166	c.1013A>G	c.(1012-1014)aAa>aGa	p.K338R	ESRRG_ENST00000361525.3_Missense_Mutation_p.K315R|ESRRG_ENST00000463665.1_Missense_Mutation_p.K276R|ESRRG_ENST00000359162.2_Missense_Mutation_p.K315R|ESRRG_ENST00000366940.2_Missense_Mutation_p.K315R|ESRRG_ENST00000487276.1_Missense_Mutation_p.K315R|ESRRG_ENST00000391890.3_Missense_Mutation_p.K322R|ESRRG_ENST00000360012.3_Missense_Mutation_p.K315R|ESRRG_ENST00000493748.1_Missense_Mutation_p.K315R|ESRRG_ENST00000361395.2_Missense_Mutation_p.K315R|ESRRG_ENST00000366938.2_Missense_Mutation_p.K315R|ESRRG_ENST00000366937.1_Missense_Mutation_p.K350R|ESRRG_ENST00000493603.1_Missense_Mutation_p.K315R	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	338					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCCTGCTAATTTGGACTGGTC	0.403																																						ENST00000391890.3											0			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(964-966)aAa>aGa	estrogen-related receptor gamma						102	97	99					1																	216692613		2203	4300	6503	SO:0001583	missense	2104			positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216692613T>C	AF058291	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			2014-02-18			ENSG00000196482	ENSG00000196482	ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	"Nuclear hormone receptors"	3474	3474	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602969	602969						9676434, 10072763	9676434, 10072763	Standard	Standard	NM_001243505	NM_001243505		Approved	NR3B3	uc001hkw.2	uc001hkw.2	P62508	P62508	OTTHUMG00000037025	OTTHUMG00000037025	ENST00000408911.3:c.1013A>G	1.37:g.216692613T>C	ENSP00000386171:p.Lys338Arg		ESRRG_ENST00000360012.3_Missense_Mutation_p.K315R|ESRRG_ENST00000493603.1_Missense_Mutation_p.K315R|ESRRG_ENST00000366937.1_Missense_Mutation_p.K350R|ESRRG_ENST00000359162.2_Missense_Mutation_p.K315R|ESRRG_ENST00000361525.3_Missense_Mutation_p.K315R|ESRRG_ENST00000366940.2_Missense_Mutation_p.K315R|ESRRG_ENST00000487276.1_Missense_Mutation_p.K315R|ESRRG_ENST00000408911.3_Missense_Mutation_p.K338R|ESRRG_ENST00000463665.1_Missense_Mutation_p.K276R|ESRRG_ENST00000493748.1_Missense_Mutation_p.K315R|ESRRG_ENST00000366938.2_Missense_Mutation_p.K315R|ESRRG_ENST00000361395.2_Missense_Mutation_p.K315R	p.K322R	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	8	1482	-			338		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.965A>G	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	T	6.099	0.386571	0.11524	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.82	5.82	0.92795	5.82	5.82	0.92795	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	N	0.01640	-0.785	0.80722	D	1	B;B;B	0.11235	0.0;0.004;0.002	B;B;B	0.09377	0.002;0.004;0.004	D	0.84625	0.0686	10	0.10902	T	0.67	.	16.1814	0.81903	0.0:0.0:0.0:1.0	.	276;350;338	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	R	315;315;350;338;315;315;315;315;315;322;276;315;315;315;315	ENSP00000355225:K315R;ENSP00000355907:K315R;ENSP00000355904:K350R;ENSP00000386171:K338R;ENSP00000352077:K315R;ENSP00000354584:K315R;ENSP00000355905:K315R;ENSP00000353108:K315R;ENSP00000419594:K315R;ENSP00000375761:K322R;ENSP00000418629:K276R;ENSP00000419155:K315R;ENSP00000417374:K315R;ENSP00000419514:K315R	ENSP00000346386:K315R	K	-	2	0	0	ESRRG	214759236	214759236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.013000	0.88655	2.234000	0.73211	0.533000	0.62120	AAA		0.403	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2		122.335638	20	20	72	72	NM_206595		37	122.339072	122.339072	38	0.493333	0	0	0	1	0	37	38	0.493333	C	216692613	T	C	216692613	3	2	71	1	0	0	0	0	1	0	0	0	5262	1841	64	4	371	4	ESRRG	1	216692613	Missense_Mutation	SNP	T	TCGA-WC-A885-01A-11D-A39W-08	115951343	216692613	32558008	3	1317											
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95	92	93					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		61.284105	2	2	57	57			20	61.406337	61.406337	25	0.444444	0	0	0	1	0	20	25	0.444444	T	198267483	C	T	198267483	3	4	71	1	0	0	0	0	1	0	0	0	14149	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		198267483	44931890	4	1318											
HGFAC	3083	broad.mit.edu	37	4	3446075	3446075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr4:3446075delG	ENST00000382774.3	+	6	751	c.636delG	c.(634-636)gagfs	p.E212fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.E212fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	212	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGTACCTGGAGGGGGGCGACC	0.682																																						ENST00000382774.3											0			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(634-636)gagfs	HGF activator						12	15	14					4																	3446075		2170	4280	6450	SO:0001589	frameshift_variant	3083			proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3446075delG	D14012	D14012	CCDS3369.1, CCDS75098.1	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			2008-02-07			ENSG00000109758	ENSG00000109758	ENSG00000109758	ENSG00000109758	3.4.21.-			4894	4894	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604552	604552						7683665, 8226803	7683665, 8226803	Standard	Standard	XM_005247966	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	uc003ghc.3	Q04756	Q04756	OTTHUMG00000090281	OTTHUMG00000090281	ENST00000382774.3:c.636delG	4.37:g.3446075delG	ENSP00000372224:p.Glu212fs		HGFAC_ENST00000511533.1_Frame_Shift_Del_p.E212fs	p.E212fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	6	751	+			212	Fibronectin type-I.	Q14726|Q2M1W7|Q53X47	Frame_Shift_Del	DEL	ENST00000382774.3	37	c.636delG	CCDS3369.1																																																																																									0.682	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3	.	.	3	3	7	7			2			4	0.33						2	4	0.33	-	3446075	G	-	3446075	7	5	71	1	0	1	0	1	0	0	0	0	7086	991	35	0	658	0	HGFAC	4	3446075	Frame_Shift_Del	DEL	G	TCGA-WC-A885-01A-11D-A39W-08		3446075	187708201	5	1319											
FAM198B	51313	broad.mit.edu	37	4	159076823	159076823	+	Silent	SNP	A	A	G			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr4:159076823A>G	ENST00000296530.8	-	3	1686	c.1065T>C	c.(1063-1065)ggT>ggC	p.G355G	FAM198B_ENST00000393807.5_Silent_p.G363G|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000585682.1_Silent_p.G355G	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	355						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TTTCAGTACAACCCGATTCAG	0.418																																						ENST00000296530.8											0			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(1063-1065)ggT>ggC	family with sequence similarity 198, member B						115	93	101					4																	159076823		2203	4299	6502	SO:0001819	synonymous_variant	51313				Golgi membrane|integral to membrane		g.chr4:159076823A>G			CCDS3798.1, CCDS34087.1	CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125	ENSG00000164125	ENSG00000164125				25312	25312	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 4 open reading frame 18"	C4orf18	"chromosome 4 open reading frame 18"	C4orf18		12975309	12975309	Standard	Standard	NM_001031700	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	uc003ipr.4	Q6UWH4	Q6UWH4	OTTHUMG00000161537	OTTHUMG00000161537	ENST00000296530.8:c.1065T>C	4.37:g.159076823A>G			FAM198B_ENST00000585682.1_Silent_p.G355G|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Silent_p.G363G	p.G355G	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			3	1686	-			355		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	ENST00000296530.8	37	c.1065T>C	CCDS3798.1																																																																																									0.418	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1		83.169119	-2	-2	69	69	NM_001031700, NM_016613		25	83.409099	83.409099	33	0.431034	0	0	0	1	0	25	33	0.431034	G	159076823	A	G	159076823	2	3	71	1	0	0	0	0	0	0	0	1	5529	30	2	4		4	FAM198B	4	159076823	Silent	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	155630748	159076823	32077453	6	1320											
FASTKD3	79072	broad.mit.edu	37	5	7859575	7859575	+	Silent	SNP	T	T	C			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr5:7859575T>C	ENST00000264669.5	-	7	2098	c.1962A>G	c.(1960-1962)caA>caG	p.Q654Q	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	654					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAACAGTGTTTTGAGAAAACA	0.318																																						ENST00000264669.5											0			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1960-1962)caA>caG	FAST kinase domains 3						86	86	86					5																	7859575		2202	4298	6500	SO:0001819	synonymous_variant	79072			apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7859575T>C	AK026927	AK026927	CCDS3873.1	CCDS3873.1	5p15.31	2008-02-05			2008-02-05			ENSG00000124279	ENSG00000124279	ENSG00000124279	ENSG00000124279				28758	28758	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_024091	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	uc003jeb.3	Q14CZ7	Q14CZ7	OTTHUMG00000131029	OTTHUMG00000131029	ENST00000264669.5:c.1962A>G	5.37:g.7859575T>C			FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	p.Q654Q	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			7	2098	-			654		Q9BVD3	Silent	SNP	ENST00000264669.5	37	c.1962A>G	CCDS3873.1																																																																																									0.318	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1		50.491754	11	11	86	86	NM_024091		16	50.841651	50.841651	24	0.4	0	0	0	1	0	16	24	0.4	C	7859575	T	C	7859575	2	2	71	1	0	0	0	0	0	0	0	1	5687	1838	64	4		4	FASTKD3	5	7859575	Silent	SNP	T	TCGA-WC-A885-01A-11D-A39W-08		7859575	173055685	7	1321											
NIPBL	25836	broad.mit.edu	37	5	37064956	37064956	+	Nonsense_Mutation	SNP	C	C	T	rs398124474		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr5:37064956C>T	ENST00000282516.8	+	47	8876	c.8377C>T	c.(8377-8379)Cga>Tga	p.R2793*		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2793					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGACTTTACGATCCCTGTA	0.363																																						ENST00000282516.8											0			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(8377-8379)Cga>Tga	Nipped-B homolog (Drosophila)						55	58	57					5																	37064956		2203	4300	6503	SO:0001587	stop_gained	25836			brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064956C>T	AB019494	AB019494	CCDS3920.1, CCDS47198.1	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			2009-08-28			ENSG00000164190	ENSG00000164190	ENSG00000164190	ENSG00000164190				28862	28862	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	"sister chromatid cohesion 2 homolog (yeast)"	608667	608667						15146186, 15146185	15146186, 15146185	Standard	Standard	NM_133433	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	uc003jkl.4	Q6KC79	Q6KC79	OTTHUMG00000090795	OTTHUMG00000090795	ENST00000282516.8:c.8377C>T	5.37:g.37064956C>T	ENSP00000282516:p.Arg2793*			p.R2793*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		47	8876	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2793		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.8377C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	50	16.830041	0.99873	.	.	ENSG00000164190	ENST00000282516	.	.	.	5.84	4.96	0.65561	5.84	4.96	0.65561	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1816	16.0322	0.80585	0.1444:0.8556:0.0:0.0	.	.	.	.	X	2793	.	ENSP00000282516:R2793X	R	+	1	2	2	NIPBL	37100713	37100713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.728000	0.68531	1.425000	0.47237	-0.274000	0.10170	CGA		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		-5.820873	21	21	97	97	NM_015384		3	6.506929	6.506929	55	0.051724	0	0	0	1	0	3	55	0.051724	T	37064956	C	T	37064956	4	4	71	1	0	0	0	0	0	1	0	0	10428	528	19	1	8604	1	NIPBL	5	37064956	Nonsense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	29205381	37064956	143850304	8	1322											
ATXN1	6310	broad.mit.edu	37	6	16327258	16327258	+	Silent	SNP	G	G	C			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr6:16327258G>C	ENST00000244769.4	-	8	2220	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	ATXN1_ENST00000436367.1_Silent_p.L428L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	428					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGTGGGGTGAGAGCGCGTAGG	0.607																																						ENST00000244769.4											0			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(1282-1284)ctC>ctG	ataxin 1						135	142	140					6																	16327258		2203	4300	6503	SO:0001819	synonymous_variant	6310			cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327258G>C	X79204	X79204	CCDS34342.1	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788	ENSG00000124788	ENSG00000124788		"Ataxins"	"Ataxins"	10548	10548	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601556	601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	1582256	Standard	Standard	NM_000332	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	uc010jpi.3	P54253	P54253	OTTHUMG00000014303	OTTHUMG00000014303	ENST00000244769.4:c.1284C>G	6.37:g.16327258G>C			ATXN1_ENST00000436367.1_Silent_p.L428L	p.L428L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	2220	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	428		Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.1284C>G	CCDS34342.1																																																																																									0.607	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3		124.631784	-38	-38	163	163	NM_000332		47	136.022087	136.022087	145	0.244792	0	0	0	1	0	47	145	0.244792	C	16327258	G	C	16327258	2	2	71	1	0	0	0	0	0	0	0	1	1209	929	33	5		5	ATXN1	6	16327258	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		16327258	154787809	9	1323											
TRIM15	89870	broad.mit.edu	37	6	30135042	30135042	+	Silent	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr6:30135042G>A	ENST00000376694.4	+	2	940	c.471G>A	c.(469-471)gtG>gtA	p.V157V	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	157					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						AGCTTCAAGTGCTGCTGGTAC	0.502																																						ENST00000376694.4											0			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(469-471)gtG>gtA	tripartite motif containing 15						116	97	104					6																	30135042		1511	2709	4220	SO:0001819	synonymous_variant	89870			mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30135042G>A	AF220132, U34249	AF220132, U34249	CCDS4677.1	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610	ENSG00000204610	ENSG00000204610		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16284	16284	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178	"zinc finger protein 178", "tripartite motif-containing 15"	ZNF178		11331580, 8304341, 8812418	11331580, 8304341, 8812418	Standard	Standard	NM_033229	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	uc010jrx.3	Q9C019	Q9C019	OTTHUMG00000031031	OTTHUMG00000031031	ENST00000376694.4:c.471G>A	6.37:g.30135042G>A			TRIM15_ENST00000376688.1_Intron	p.V157V	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			2	940	+			157		A2BEC9|O95604|Q8IUX9|Q9C018	Silent	SNP	ENST00000376694.4	37	c.471G>A	CCDS4677.1																																																																																									0.502	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2		297.467262	-8	-8	74	74	NM_033229		91	301.892533	301.892533	40	0.694656	0	0	0	1	0	91	40	0.694656	A	30135042	G	A	30135042	2	1	71	1	0	0	0	0	0	0	0	1	16487	1306	46	2		2	TRIM15	6	30135042	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08	13807784	30135042	140980025	10	1324											
TRERF1	55809	broad.mit.edu	37	6	42196196	42196196	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr6:42196196C>T	ENST00000372922.4	-	18	4052	c.3490G>A	c.(3490-3492)Gac>Aac	p.D1164N	TRERF1_ENST00000372917.4_Missense_Mutation_p.D1093N|TRERF1_ENST00000354325.2_Missense_Mutation_p.D1081N|TRERF1_ENST00000541110.1_Missense_Mutation_p.D1184N|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1093N	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1164	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D1164N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACGACGTCGTCGTCGAGGATG	0.577																																						ENST00000541110.1											1	Substitution - Missense(1)	ovary(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3550-3552)Gac>Aac	transcriptional regulating factor 1						150	143	145					6																	42196196		2203	4300	6503	SO:0001583	missense	55809			cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196196C>T	AF297872	AF297872	CCDS4867.1, CCDS75455.1	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			2012-09-25			ENSG00000124496	ENSG00000124496	ENSG00000124496	ENSG00000124496				18273	18273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610322	610322	"breast cancer anti-estrogen resistance 2"	BCAR2	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	11349124	Standard	Standard	XM_005249223	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	uc003osd.2	Q96PN7	Q96PN7	OTTHUMG00000014698	OTTHUMG00000014698	ENST00000372922.4:c.3490G>A	6.37:g.42196196C>T	ENSP00000362013:p.Asp1164Asn		TRERF1_ENST00000372922.4_Missense_Mutation_p.D1164N|TRERF1_ENST00000340840.2_Missense_Mutation_p.D1093N|TRERF1_ENST00000354325.2_Missense_Mutation_p.D1081N|TRERF1_ENST00000372917.4_Missense_Mutation_p.D1093N	p.D1184N			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	4118	-	Colorectal(47;0.196)		1164	Interacts with CREBBP.	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.3550G>A	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803405	0.50315	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12879	2.82;2.64;2.84;2.64;2.64	5.78	4.89	0.63831	5.78	4.89	0.63831	.	0.529823	0.18083	N	0.152222	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B;B;B;B;P	0.51791	0.013;0.007;0.007;0.013;0.948	B;B;B;B;B	0.42771	0.003;0.001;0.001;0.003;0.397	T	0.28138	-1.0053	10	0.37606	T	0.19	-4.353	7.4591	0.27285	0.0:0.7183:0.1413:0.1405	.	1081;1184;1164;920;932	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	N	1184;1093;1164;1093;1081	ENSP00000439689:D1184N;ENSP00000362008:D1093N;ENSP00000362013:D1164N;ENSP00000339438:D1093N;ENSP00000346285:D1081N	ENSP00000339438:D1093N	D	-	1	0	0	TRERF1	42304174	42304174	0.038000	0.19896	0.003000	0.11579	0.602000	0.36980	2.109000	0.41863	1.411000	0.46957	0.563000	0.77884	GAC		0.577	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		136.137258	-5	-5	157	157	NM_033502		54	148.769953	148.769953	164	0.247706	0	0	0	1	0	54	164	0.247706	T	42196196	C	T	42196196	3	4	71	1	0	0	0	0	1	0	0	0	16472	884	31	1	116	1	TRERF1	6	42196196	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	12061154	42196196	128918871	11	1325											
AMZ1	155185	broad.mit.edu	37	7	2740257	2740257	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr7:2740257C>G	ENST00000312371.4	+	2	540	c.172C>G	c.(172-174)Ctg>Gtg	p.L58V	AMZ1_ENST00000407112.1_Missense_Mutation_p.L58V	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	58							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CTTCTGCACCCTGCTCATCCG	0.677																																						ENST00000312371.4											0			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(172-174)Ctg>Gtg	archaelysin family metallopeptidase 1						95	102	100					7																	2740257		2203	4300	6503	SO:0001583	missense	155185					metallopeptidase activity|zinc ion binding	g.chr7:2740257C>G	AB075830	AB075830	CCDS34589.1, CCDS64582.1	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			2008-01-17			ENSG00000174945	ENSG00000174945	ENSG00000174945	ENSG00000174945				22231	22231	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"archaemetzincin-1"	"archaemetzincin-1"	615168	615168						15972818	15972818	Standard	Standard	NM_133463	NM_133463		Approved	KIAA1950	uc003smr.1	uc003smr.1	Q400G9	Q400G9	OTTHUMG00000152111	OTTHUMG00000152111	ENST00000312371.4:c.172C>G	7.37:g.2740257C>G	ENSP00000308149:p.Leu58Val		AMZ1_ENST00000407112.1_Missense_Mutation_p.L58V	p.L58V	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	540	+		Ovarian(82;0.0779)	58		B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.172C>G	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464523	0.63513	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.16597	2.33;2.33	4.34	3.21	0.36854	4.34	3.21	0.36854	.	0.286891	0.24368	N	0.039133	T	0.27765	0.0683	M	0.65975	2.015	0.29654	N	0.843744	D;P	0.58268	0.982;0.939	P;B	0.54889	0.763;0.433	T	0.04767	-1.0928	10	0.34782	T	0.22	-16.3083	9.3477	0.38118	0.0:0.8156:0.0:0.1844	.	58;58	B3KRS0;Q400G9	.;AMZ1_HUMAN	V	58	ENSP00000308149:L58V;ENSP00000386020:L58V	ENSP00000308149:L58V	L	+	1	2	2	AMZ1	2706783	2706783	0.485000	0.25972	0.811000	0.32455	0.926000	0.56050	0.836000	0.27545	1.969000	0.57287	0.561000	0.74099	CTG		0.677	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1		159.147655	32	32	177	177	NM_133463		50	159.149811	159.149811	49	0.505051	0	0	0	1	0	50	49	0.505051	G	2740257	C	G	2740257	3	3	71	1	0	0	0	0	1	0	0	0	596	680	24	5	174	5	AMZ1	7	2740257	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		2740257	156398406	12	1326											
DNAJB6	10049	broad.mit.edu	37	7	157177640	157177656	+	Frame_Shift_Del	DEL	CAACTTCAAATCGATAT	CAACTTCAAATCGATAT	-	rs145897776		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr7:157177640_157177656delCAACTTCAAATCGATAT	ENST00000262177.4	+	7	763_779	c.558_574delCAACTTCAAATCGATAT	c.(556-576)ggcaacttcaaatcgatatcafs	p.NFKSIS187fs	DNAJB6_ENST00000429029.2_Frame_Shift_Del_p.NFKSIS187fs|DNAJB6_ENST00000452797.2_Frame_Shift_Del_p.NFKSIS138fs|DNAJB6_ENST00000443280.1_Intron	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	187	Interaction with KRT18.|Ser-rich.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.S190S(1)		central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGGCATGGGCAACTTCAAATCGATATCAACTTCAAC	0.396																																					Esophageal Squamous(46;195 967 1350 20350 43814)	ENST00000262177.4											1	Substitution - coding silent(1)	ovary(1)	central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5						c.(556-576)ggcaacttcaaatcgatatcafs	DnaJ (Hsp40) homolog, subfamily B, member 6																																			SO:0001589	frameshift_variant	10049			intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding	g.chr7:157177640_157177656delCAACTTCAAATCGATAT	AB014888	AB014888	CCDS5946.1, CCDS47755.1	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			2014-02-03			ENSG00000105993	ENSG00000105993	ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	"Heat shock proteins / DNAJ (HSP40)"	14888	14888	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611332	611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	10319584, 9915854, 22366786	Standard	Standard	NM_005494	NM_005494		Approved	MRJ	uc003wnk.3	uc003wnk.3	O75190	O75190	OTTHUMG00000157242	OTTHUMG00000157242	ENST00000262177.4:c.558_574delCAACTTCAAATCGATAT	7.37:g.157177640_157177656delCAACTTCAAATCGATAT	ENSP00000262177:p.Asn187fs		DNAJB6_ENST00000429029.2_Frame_Shift_Del_p.NFKSIS187fs|DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000452797.2_Frame_Shift_Del_p.NFKSIS138fs	p.NFKSIS187fs	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	7	763_779	+	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	187	Interaction with KRT18.	A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Frame_Shift_Del	DEL	ENST00000262177.4	37	c.558_574delCAACTTCAAATCGATAT	CCDS5946.1																																																																																									0.396	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2	.	.	45	45	159	159			15			77	0.16						15	77	0.16	-	157177656	CAACTTCAAATCGATAT	-	157177640	7	5	71	1	0	1	0	1	0	0	0	0	4624	697	25	0	580	0	DNAJB6	7	157177640	Frame_Shift_Del	DEL	CAACTTCAAATCGATAT	TCGA-WC-A885-01A-11D-A39W-08	154437383	157177640	1961023	13	1327											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		106.393341	2	2	114	114	NM_002072		32	106.586611	106.586611	40	0.444444	0	0	0	1	0	32	40	0.444444	G	80409488	T	G	80409488	3	3	71	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-A885-01A-11D-A39W-08		80409488	60803943	14	1328											
SLC28A3	64078	broad.mit.edu	37	9	86894188	86894188	+	Silent	SNP	C	C	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr9:86894188C>A	ENST00000376238.4	-	17	1990	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Silent_p.L578L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	647					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	ACCTGCTCAACAGACTTTGGC	0.348																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4											0			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1939-1941)ctG>ctT	solute carrier family 28 (concentrative nucleoside transporter), member 3						131	113	119					9																	86894188		2203	4300	6503	SO:0001819	synonymous_variant	64078			nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86894188C>A	AF305210	AF305210	CCDS6670.1	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506	ENSG00000197506	ENSG00000197506		"Solute carriers"	"Solute carriers"	16484	16484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608269	608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"		"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	11032837	Standard	Standard	NM_001199633	NM_001199633		Approved	CNT3	uc010mpz.3	uc010mpz.3	Q9HAS3	Q9HAS3	OTTHUMG00000020117	OTTHUMG00000020117	ENST00000376238.4:c.1941G>T	9.37:g.86894188C>A			RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Silent_p.L578L	p.L647L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			17	1990	-			647		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	c.1941G>T	CCDS6670.1																																																																																									0.348	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1		58.815122	23	23	96	96	NM_022127		19	59.270906	59.270906	29	0.395833	1	0	1.56452e-12	1	1.61342e-12	19	29	0.395833	A	86894188	C	A	86894188	2	1	71	1	0	0	0	0	0	0	0	1	14533	465	17	5		5	SLC28A3	9	86894188	Silent	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	6484700	86894188	54319243	15	1329											
FGFR2	2263	broad.mit.edu	37	10	123298226	123298226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr10:123298226G>A	ENST00000358487.5	-	6	900	c.628C>T	c.(628-630)Cga>Tga	p.R210*	FGFR2_ENST00000360144.3_Nonsense_Mutation_p.R121*|FGFR2_ENST00000357555.5_Nonsense_Mutation_p.R121*|FGFR2_ENST00000356226.4_Nonsense_Mutation_p.R95*|FGFR2_ENST00000346997.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369056.1_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369061.4_Nonsense_Mutation_p.R210*|FGFR2_ENST00000359354.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369059.1_Nonsense_Mutation_p.R95*|FGFR2_ENST00000351936.6_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369060.4_Nonsense_Mutation_p.R210*|FGFR2_ENST00000457416.2_Nonsense_Mutation_p.R210*	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	210	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TGCTGGTTTCGTACCTGAAAA	0.423		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(628-630)Cga>Tga	fibroblast growth factor receptor 2						136	119	124					10																	123298226		2203	4300	6503	SO:0001587	stop_gained	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123298226G>A	AK026508	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468	ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	3689	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	"Crouzon syndrome", "Pfeiffer syndrome"	176943	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS				Standard	Standard	NM_022970	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	uc021pzy.1	P21802	P21802	OTTHUMG00000019175	OTTHUMG00000019175	ENST00000358487.5:c.628C>T	10.37:g.123298226G>A	ENSP00000351276:p.Arg210*		FGFR2_ENST00000369060.4_Nonsense_Mutation_p.R210*|FGFR2_ENST00000356226.4_Nonsense_Mutation_p.R95*|FGFR2_ENST00000351936.6_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369056.1_Nonsense_Mutation_p.R210*|FGFR2_ENST00000346997.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Nonsense_Mutation_p.R210*|FGFR2_ENST00000359354.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000369059.1_Nonsense_Mutation_p.R95*|FGFR2_ENST00000357555.5_Nonsense_Mutation_p.R121*|FGFR2_ENST00000457416.2_Nonsense_Mutation_p.R210*|FGFR2_ENST00000360144.3_Nonsense_Mutation_p.R121*	p.R210*	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	6	900	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	210	Ig-like C2-type 2.	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Nonsense_Mutation	SNP	ENST00000358487.5	37	c.628C>T	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	42	9.173824	0.99089	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	121;210;210;210;95;210;95;210;210;210;121;210;210;121;210	.	ENSP00000337665:R121X	R	-	1	2	2	FGFR2	123288216	123288216	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.751000	0.85126	2.941000	0.99782	0.655000	0.94253	CGA		0.423	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1		96.550267	-7	-7	85	85	NM_022976, NM_000141		30	96.553776	96.553776	31	0.491803	0	0	0	1	0	30	31	0.491803	A	123298226	G	A	123298226	4	1	71	1	0	0	0	0	0	1	0	0	5866	1153	40	1	2145	1	FGFR2	10	123298226	Nonsense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		123298226	12236521	16	1330											
CHST15	51363	broad.mit.edu	37	10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	rs145631200		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453													G|||	1	0.000199681	8e-04	0	5008	,	,		20352	0		0	False		,,,				2504	0					ENST00000346248.5											0			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(217-219)Cgc>Tgc	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	85	75	79		217,217	4.8	1	10	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense	CHST15	NM_014863.2,NM_015892.3	180,180	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	73/507,73/562	125805512	3,13003	2203	4300	6503	SO:0001583	missense	51363			hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805512G>A	AB011170	AB011170	CCDS7638.1	CCDS7638.1	10q26	2009-07-09			2009-07-09			ENSG00000182022	ENSG00000182022	ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	"Sulfotransferases, membrane-bound"	18137	18137	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277	608277						9628581, 9754571, 11572857	9628581, 9754571, 11572857	Standard	Standard	NM_014863	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	uc001lhm.4	Q7LFX5	Q7LFX5	OTTHUMG00000019208	OTTHUMG00000019208	ENST00000346248.5:c.217C>T	10.37:g.125805512G>A	ENSP00000333947:p.Arg73Cys		CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	p.R73C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN			2	859	-			73		O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.217C>T	CCDS7638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.620	0.676663	0.14841	6.81E-4	0.0	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	5.67	4.77	0.60923	.	0.253960	0.41294	N	0.000904	T	0.20740	0.0499	N	0.04508	-0.205	0.31534	N	0.660833	B;B	0.25007	0.116;0.071	B;B	0.19391	0.025;0.011	T	0.13469	-1.0508	9	0.44086	T	0.13	-28.6264	9.5674	0.39407	0.1996:0.0:0.8004:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	73	.	ENSP00000333947:R73C	R	-	1	0	0	CHST15	125795502	125795502	0.905000	0.30787	0.951000	0.38953	0.262000	0.26303	1.908000	0.39907	1.415000	0.47037	-0.219000	0.12488	CGC		0.453	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1		-10.733289	-12	-12	92	92	NM_015892		3	6.364739	6.364739	72	0.04	0	0	0	1	0	3	72	0.04	A	125805512	G	A	125805512	3	1	71	1	0	0	0	0	1	0	0	0	3403	1087	38	1	1496	1	CHST15	10	125805512	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08	2507286	125805512	9729235	17	1331											
ALG9	79796	broad.mit.edu	37	11	111715342	111715342	+	Silent	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr11:111715342G>A	ENST00000531154.1	-	9	959	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Silent_p.L163L	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	334					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTCTGCAGCAGGTATTCCATA	0.403																																						ENST00000398006.2											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(487-489)Ctg>Ttg	ALG9, alpha-1,2-mannosyltransferase						118	108	111					11																	111715342		1877	4116	5993	SO:0001819	synonymous_variant	79796			dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111715342G>A			CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	15672	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	12030331, 15148656	Standard	Standard	NM_024740	NM_024740		Approved		uc021qql.1	uc021qql.1	Q9H6U8	Q9H6U8	OTTHUMG00000166819	OTTHUMG00000166819	ENST00000531154.1:c.487C>T	11.37:g.111715342G>A			ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Silent_p.L163L|ALG9_ENST00000527228.1_5'UTR	p.L163L	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	9	1395	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	334		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	ENST00000531154.1	37	c.487C>T	CCDS41714.1																																																																																									0.403	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1		257.574635	24	24	222	222	NM_024740		80	257.703494	257.703494	90	0.470588	0	0	0	1	0	80	90	0.470588	A	111715342	G	A	111715342	2	1	71	1	0	0	0	0	0	0	0	1	524	991	35	3		3	ALG9	11	111715342	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		111715342	23291174	18	1332											
SORL1	6653	broad.mit.edu	37	11	121429472	121429472	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr11:121429472A>T	ENST00000260197.7	+	20	2965	c.2836A>T	c.(2836-2838)Atc>Ttc	p.I946F		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	946					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CATAGAGCGGATCACGTTCAG	0.547																																						ENST00000260197.7											0			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(2836-2838)Atc>Ttc	sortilin-related receptor, L(DLR class) A repeats containing						204	158	174					11																	121429472		2203	4299	6502	SO:0001583	missense	6653			cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121429472A>T	Y08110	Y08110	CCDS8436.1	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642	ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	"Fibronectin type III domain containing"	11185	11185	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	"LDLR relative with 11 ligand-binding repeats"	602005	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	9157966, 8940146	Standard	Standard	NM_003105	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	uc001pxx.3	Q92673	Q92673	OTTHUMG00000166057	OTTHUMG00000166057	ENST00000260197.7:c.2836A>T	11.37:g.121429472A>T	ENSP00000260197:p.Ile946Phe			p.I946F	NM_003105.5	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	20	2965	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	946		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2836A>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535708	0.45176	.	.	ENSG00000137642	ENST00000260197	D	0.90844	-2.74	5.53	1.72	0.24424	5.53	1.72	0.24424	Six-bladed beta-propeller, TolB-like (1);	0.620996	0.17025	N	0.189966	D	0.90038	0.6889	M	0.86953	2.85	0.80722	D	1	B	0.23735	0.09	B	0.23574	0.047	D	0.85774	0.1357	10	0.59425	D	0.04	.	7.8776	0.29603	0.5602:0.0:0.4398:0.0	.	946	Q92673	SORL_HUMAN	F	946	ENSP00000260197:I946F	ENSP00000260197:I946F	I	+	1	0	0	SORL1	120934682	120934682	0.997000	0.39634	0.058000	0.19502	0.779000	0.44077	2.240000	0.43088	0.307000	0.22880	0.533000	0.62120	ATC		0.547	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2		65.268417	18	18	93	93	NM_003105		24	67.298587	67.298587	50	0.324324	0	0	0	1	0	24	50	0.324324	T	121429472	A	T	121429472	3	4	71	1	0	0	0	0	1	0	0	0	14934	333	12	5	2914	5	SORL1	11	121429472	Missense_Mutation	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	9714130	121429472	13577044	19	1333											
SLC6A13	6540	broad.mit.edu	37	12	333591	333591	+	Silent	SNP	G	G	A	rs145951312		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:333591G>A	ENST00000343164.4	-	10	1201	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Silent_p.V291V	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	383					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCAGGAGAACGACCATGAAGA	0.597																																						ENST00000343164.4											0			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1147-1149)gtC>gtT	solute carrier family 6 (neurotransmitter transporter), member 13	G	,	0,4406		0,0,2203	124	111	115		873,1149	-6.1	0.7	12	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SLC6A13	NM_001190997.2,NM_016615.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	291/511,383/603	333591	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6540			neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333591G>A	U76343	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379	ENSG00000010379	ENSG00000010379		"Solute carriers"	"Solute carriers"	11046	11046	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"GABA transporter 2"	"GABA transporter 2"	615097	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"		"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"					Standard	Standard	NM_001243392	NM_001243392		Approved	GAT2	uc001qic.2	uc001qic.2	Q9NSD5	Q9NSD5	OTTHUMG00000168053	OTTHUMG00000168053	ENST00000343164.4:c.1149C>T	12.37:g.333591G>A			SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Silent_p.V291V	p.V383V	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1201	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		383		B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.1149C>T	CCDS8502.1																																																																																									0.597	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1		62.596552	5	5	78	78	NM_016615		20	62.642051	62.642051	23	0.465116	0	0	0	1	0	20	23	0.465116	A	333591	G	A	333591	2	1	71	1	0	0	0	0	0	0	0	1	14676	1045	37	1		1	SLC6A13	12	333591	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		333591	133518304	20	1334											
BAZ2A	11176	broad.mit.edu	37	12	57003582	57003582	+	Missense_Mutation	SNP	A	A	C			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:57003582A>C	ENST00000551812.1	-	10	2229	c.2036T>G	c.(2035-2037)gTc>gGc	p.V679G	BAZ2A_ENST00000179765.5_Missense_Mutation_p.V647G|BAZ2A_ENST00000549884.1_Missense_Mutation_p.V677G|BAZ2A_ENST00000379441.3_Missense_Mutation_p.V649G	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	679	Lys-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTGATTTTGACCTTAGGTGG	0.512																																						ENST00000179765.5											0			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1939-1941)gTc>gGc	bromodomain adjacent to zinc finger domain, 2A						79	75	76					12																	57003582		1903	4120	6023	SO:0001583	missense	11176			chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57003582A>C	AB032254	AB032254	CCDS44924.1, CCDS73483.1	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28			2013-01-28				ENSG00000076108		ENSG00000076108		"Zinc fingers, PHD-type"	"Zinc fingers, PHD-type"	962	962	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	"TTF-I interacting peptide 5"	605682	605682						10662543, 11532953	10662543, 11532953	Standard	Standard	XM_005268596	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	uc001slq.1	Q9UIF9	Q9UIF9	OTTHUMG00000170332	OTTHUMG00000170332	ENST00000551812.1:c.2036T>G	12.37:g.57003582A>C	ENSP00000446880:p.Val679Gly		BAZ2A_ENST00000549884.1_Missense_Mutation_p.V677G|BAZ2A_ENST00000379441.3_Missense_Mutation_p.V649G|BAZ2A_ENST00000551812.1_Missense_Mutation_p.V679G	p.V647G			Q9UIF9	BAZ2A_HUMAN			11	2139	-			679		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.1940T>G	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.97|14.97	2.694188|2.694188	0.48202|0.48202	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000547650|ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.|T;T;T;T	.|0.30981	.|2.3;2.3;1.51;2.3	5.02|5.02	5.02|5.02	0.67125|0.67125	5.02|5.02	5.02|5.02	0.67125|0.67125	.|AT hook, DNA-binding motif (1);	.|0.520684	.|0.20307	.|N	.|0.094906	T|T	0.36303|0.36303	0.0962|0.0962	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999996|0.999996	.|P;P	.|0.46220	.|0.874;0.8	.|P;B	.|0.48227	.|0.571;0.368	T|T	0.17961|0.17961	-1.0352|-1.0352	5|10	.|0.87932	.|D	.|0	.|.	14.1547|14.1547	0.65410|0.65410	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|677;679	.|F8VU39;Q9UIF9	.|.;BAZ2A_HUMAN	A|G	105|649;647;679;677	.|ENSP00000368754:V649G;ENSP00000179765:V647G;ENSP00000446880:V679G;ENSP00000447941:V677G	.|ENSP00000179765:V647G	S|V	-|-	1|2	0|0	0|0	BAZ2A|BAZ2A	55289849|55289849	55289849|55289849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	3.441000|3.441000	0.52893|0.52893	2.243000|2.243000	0.73865|0.73865	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.512	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1		19.817705	16	16	46	46	NM_013449		7	20.334466	20.334466	14	0.333333	0	0	0	1	0	7	14	0.333333	C	57003582	A	C	57003582	3	2	71	1	0	0	0	0	1	0	0	0	1331	275	10	5	3761	5	BAZ2A	12	57003582	Missense_Mutation	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	56669991	57003582	76848313	21	1335											
SSH1	54434	broad.mit.edu	37	12	109182113	109182113	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:109182113C>T	ENST00000326495.5	-	15	2894	c.2801G>A	c.(2800-2802)cGg>cAg	p.R934Q	SSH1_ENST00000360239.3_Missense_Mutation_p.R622Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	934	Interaction with YWHAG.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGAGCTCCGGGTCAGGTT	0.597																																						ENST00000326495.5											0			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2800-2802)cGg>cAg	slingshot protein phosphatase 1						57	61	60					12																	109182113		2197	4295	6492	SO:0001583	missense	54434			actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182113C>T	BC062341	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05		2013-03-05	2013-03-05			ENSG00000084112		ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	30579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606778	606778	"slingshot homolog 1 (Drosophila)"		"slingshot homolog 1 (Drosophila)"			10718198, 11832213	10718198, 11832213	Standard	Standard	NM_018984	NM_018984		Approved	KIAA1298	uc001tnm.3	uc001tnm.3	Q8WYL5	Q8WYL5	OTTHUMG00000169371	OTTHUMG00000169371	ENST00000326495.5:c.2801G>A	12.37:g.109182113C>T	ENSP00000315713:p.Arg934Gln		SSH1_ENST00000360239.3_Missense_Mutation_p.R622Q	p.R934Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			15	2894	-			934	Interaction with YWHAG.	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.2801G>A	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065292	0.93898	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.16897	2.41;2.31	5.44	4.55	0.56014	5.44	4.55	0.56014	.	0.152283	0.64402	D	0.000011	T	0.40694	0.1127	M	0.70275	2.135	0.41014	D	0.98502	D;D	0.89917	0.999;1.0	P;D	0.83275	0.715;0.996	T	0.27739	-1.0065	10	0.45353	T	0.12	-29.3895	14.4201	0.67177	0.0:0.9284:0.0:0.0716	.	934;622	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	Q	622;934	ENSP00000353374:R622Q;ENSP00000315713:R934Q	ENSP00000315713:R934Q	R	-	2	0	0	SSH1	107706242	107706242	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.452000	0.80683	1.307000	0.44944	0.650000	0.86243	CGG		0.597	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1		101.826087	-9	-9	81	81	NM_018984		31	101.826087	101.826087	31	0.5	0	0	0	1	0	31	31	0.5	T	109182113	C	T	109182113	3	4	71	1	0	0	0	0	1	0	0	0	15183	652	23	1	352	1	SSH1	12	109182113	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	52178531	109182113	24669782	22	1336											
WDR66	144406	broad.mit.edu	37	12	122392079	122392079	+	Silent	SNP	A	A	G			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr12:122392079A>G	ENST00000288912.4	+	10	2228	c.1374A>G	c.(1372-1374)ttA>ttG	p.L458L	WDR66_ENST00000397454.2_Silent_p.L458L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	458							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACTTGAATTTAACACAAATAC	0.413																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1372-1374)ttA>ttG	WD repeat domain 66						98	94	95					12																	122392079		1897	4120	6017	SO:0001819	synonymous_variant	144406					calcium ion binding	g.chr12:122392079A>G	AL833930	AL833930	CCDS41853.1, CCDS53840.1	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			2014-07-31			ENSG00000158023	ENSG00000158023	ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	"WD repeat domain containing"	28506	28506	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										17967944	17967944	Standard	Standard	NM_001178003	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	uc009zxk.3	Q8TBY9	Q8TBY9	OTTHUMG00000168948	OTTHUMG00000168948	ENST00000288912.4:c.1374A>G	12.37:g.122392079A>G			WDR66_ENST00000397454.2_Silent_p.L458L	p.L458L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	10	2228	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		458		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.1374A>G	CCDS41853.1																																																																																									0.413	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1		176.800787	6	6	126	126	NM_144668		52	177.204359	177.204359	39	0.571429	0	0	0	1	0	52	39	0.571429	G	122392079	A	G	122392079	2	3	71	1	0	0	0	0	0	0	0	1	17314	359	13	4		4	WDR66	12	122392079	Silent	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	13209966	122392079	11459816	23	1337											
WDHD1	11169	broad.mit.edu	37	14	55424348	55424348	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr14:55424348C>T	ENST00000360586.3	-	22	2772	c.2707G>A	c.(2707-2709)Gtt>Att	p.V903I	WDHD1_ENST00000359167.4_Missense_Mutation_p.V421I|WDHD1_ENST00000421192.1_Missense_Mutation_p.V780I|WDHD1_ENST00000420358.2_Missense_Mutation_p.V780I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	903					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTAAAGGTAACTGCACCTTTC	0.303																																						ENST00000360586.3											0			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(2707-2709)Gtt>Att	WD repeat and HMG-box DNA binding protein 1						58	56	56					14																	55424348		2203	4300	6503	SO:0001583	missense	11169				cytoplasm|nucleoplasm	DNA binding	g.chr14:55424348C>T	AJ006266	AJ006266	CCDS9721.1, CCDS41955.1	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			2013-01-09			ENSG00000198554	ENSG00000198554	ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	"WD repeat domain containing"	23170	23170	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126	608126						9175701, 20028748	9175701, 20028748	Standard	Standard	NM_007086	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	uc001xbm.2	O75717	O75717	OTTHUMG00000140304	OTTHUMG00000140304	ENST00000360586.3:c.2707G>A	14.37:g.55424348C>T	ENSP00000353793:p.Val903Ile		WDHD1_ENST00000420358.2_Missense_Mutation_p.V780I|WDHD1_ENST00000421192.1_Missense_Mutation_p.V780I|WDHD1_ENST00000359167.4_Missense_Mutation_p.V421I	p.V903I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			22	2772	-			903		C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.2707G>A	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	6.382	0.438550	0.12104	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.62232	0.39;0.91;0.04	4.84	3.01	0.34805	4.84	3.01	0.34805	.	0.400816	0.24236	N	0.040319	T	0.43366	0.1244	L	0.28115	0.83	0.26354	N	0.977152	B;B	0.17667	0.023;0.007	B;B	0.16289	0.015;0.007	T	0.20571	-1.0271	10	0.25106	T	0.35	.	7.3723	0.26808	0.0:0.6629:0.0:0.3371	.	421;903	F8W7P7;O75717	.;WDHD1_HUMAN	I	903;421;780	ENSP00000353793:V903I;ENSP00000352085:V421I;ENSP00000391049:V780I	ENSP00000352085:V421I	V	-	1	0	0	WDHD1	54494098	54494098	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	2.000000	0.40816	1.048000	0.40298	-0.379000	0.06801	GTT		0.303	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2		49.555636	30	30	94	94	NM_007086		17	49.819076	49.819076	24	0.414634	0	0	0	1	0	17	24	0.414634	T	55424348	C	T	55424348	3	4	71	1	0	0	0	0	1	0	0	0	17268	565	20	3	702	3	WDHD1	14	55424348	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		55424348	51925192	24	1338											
SEMA6D	80031	broad.mit.edu	37	15	48058164	48058164	+	Missense_Mutation	SNP	G	G	A	rs189617082		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr15:48058164G>A	ENST00000316364.5	+	14	1965	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	SEMA6D_ENST00000536845.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R509H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R509H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R509H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R509H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	509	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGCATTATCCGCATCCCCCTC	0.443													G|||	1	0.000199681	0	0.0014	5008	,	,		21058	0		0	False		,,,				2504	0					ENST00000316364.5											0			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1525-1527)cGc>cAc	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	228	206	213		1526,1526,1526,1526,1526,1526	5.9	1	15		213	0,8594		0,0,4297	no	missense,missense,missense,missense,missense,missense	SEMA6D	NM_001198999.1,NM_020858.1,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	29,29,29,29,29,29	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	509/1012,509/1012,509/999,509/1018,509/1074,509/598	48058164	1,12989	2198	4297	6495	SO:0001583	missense	80031			axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058164G>A	AF389430	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18			2006-09-18				ENSG00000137872		ENSG00000137872		"Semaphorins"	"Semaphorins"	16770	16770	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609295	609295						12110693, 14977921	12110693, 14977921	Standard	Standard	NM_020858	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	uc001zvy.3	Q8NFY4	Q8NFY4			ENST00000316364.5:c.1526G>A	15.37:g.48058164G>A	ENSP00000324857:p.Arg509His		SEMA6D_ENST00000354744.4_Missense_Mutation_p.R509H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.R509H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R509H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R509H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R509H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R509H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R509H	p.R509H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	14	1965	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	509	Sema.	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1526G>A	CCDS32225.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.14	3.312884	0.60414	2.27E-4	0.0	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.88	5.88	0.94601	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	L	0.53671	1.685	0.80722	D	1	P;B;P;B;P	0.50710	0.867;0.006;0.938;0.016;0.692	B;B;B;B;B	0.43701	0.248;0.003;0.428;0.021;0.152	T	0.02837	-1.1104	10	0.48119	T	0.1	.	20.2284	0.98346	0.0:0.0:1.0:0.0	.	509;509;509;509;509	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	H	509	ENSP00000442040:R509H;ENSP00000446152:R509H;ENSP00000324857:R509H;ENSP00000374084:R509H;ENSP00000374083:R509H;ENSP00000346786:R509H;ENSP00000350770:R509H;ENSP00000374079:R509H;ENSP00000348276:R509H	ENSP00000324857:R509H	R	+	2	0	0	SEMA6D	45845456	45845456	1.000000	0.71417	0.995000	0.50966	0.851000	0.48451	6.736000	0.74811	2.785000	0.95823	0.650000	0.86243	CGC		0.443	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1		-14.786146	32	32	127	127	NM_024966		4	8.302435	8.302435	97	0.039604	0	0	0	1	0	4	97	0.039604	A	48058164	G	A	48058164	3	1	71	1	0	0	0	0	1	0	0	0	14042	1087	38	1	1580	1	SEMA6D	15	48058164	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		48058164	54473228	25	1339											
GNPTG	84572	broad.mit.edu	37	16	1402156	1402156	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr16:1402156delT	ENST00000204679.4	+	2	149	c.106delT	c.(106-108)tttfs	p.F36fs	TSR3_ENST00000007390.2_5'Flank	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	36					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCCCAACGCGTTTGGGTGAGC	0.726																																						ENST00000204679.4											0			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(106-108)tttfs	N-acetylglucosamine-1-phosphate transferase, gamma subunit						6	6	6					16																	1402156		2122	4153	6275	SO:0001589	frameshift_variant	84572				extracellular region|Golgi apparatus	protein binding	g.chr16:1402156delT	BC014592	BC014592	CCDS10436.1	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581	ENSG00000090581	ENSG00000090581				23026	23026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	"GlcNAc-phosphotransferase gamma-subunit"	607838	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	10712439	Standard	Standard	NM_032520	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	uc002clm.3	Q9UJJ9	Q9UJJ9	OTTHUMG00000047835	OTTHUMG00000047835	ENST00000204679.4:c.106delT	16.37:g.1402156delT	ENSP00000204679:p.Phe36fs			p.F36fs	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN			2	149	+		Hepatocellular(780;0.0893)	36		B2R556|Q6XYD7|Q96L13	Frame_Shift_Del	DEL	ENST00000204679.4	37	c.106delT	CCDS10436.1																																																																																									0.726	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	.	.	2	2	10	10	NM_032520		2			4	0.33						2	4	0.33	-	1402156	T	-	1402156	7	5	71	1	0	1	0	1	0	0	0	0	6546	1725	60	0	112	0	GNPTG	16	1402156	Frame_Shift_Del	DEL	T	TCGA-WC-A885-01A-11D-A39W-08		1402156	88952597	26	1340											
LAMA1	284217	broad.mit.edu	37	18	6985237	6985237	+	Splice_Site	SNP	T	T	A	rs573418350		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr18:6985237T>A	ENST00000389658.3	-	39	5752	c.5659A>T	c.(5659-5661)Agt>Tgt	p.S1887C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1887	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGTTCCTACCTGTACAGAACA	0.493																																						ENST00000389658.3											0			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(5659-5661)Agt>Tgt	laminin, alpha 1						181	149	160					18																	6985237		2203	4300	6503	SO:0001630	splice_region_variant	284217			axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6985237T>A	X58531	X58531	CCDS32787.1	CCDS32787.1	18p11.3	2013-03-01			2013-03-01			ENSG00000101680	ENSG00000101680	ENSG00000101680	ENSG00000101680		"Laminins"	"Laminins"	6481	6481	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			150320	150320		LAMA		LAMA		2591971	2591971	Standard	Standard	NM_005559	NM_005559		Approved		uc002knm.3	uc002knm.3	P25391	P25391	OTTHUMG00000133478	OTTHUMG00000133478	ENST00000389658.3:c.5660+1A>T	18.37:g.6985237T>A				p.S1887C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			39	5752	-		Colorectal(10;0.172)	1887	Domain II and I.		Splice_Site	SNP	ENST00000389658.3	37	c.5659A>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480247	0.44044	.	.	ENSG00000101680	ENST00000389658	T	0.20200	2.09	4.85	3.66	0.41972	4.85	3.66	0.41972	.	0.202178	0.48767	D	0.000178	T	0.35828	0.0945	L	0.56769	1.78	0.35060	D	0.761436	D	0.71674	0.998	P	0.60286	0.872	T	0.50634	-0.8805	10	0.62326	D	0.03	.	10.9662	0.47414	0.0:0.0:0.157:0.843	.	1887	P25391	LAMA1_HUMAN	C	1887	ENSP00000374309:S1887C	ENSP00000374309:S1887C	S	-	1	0	0	LAMA1	6975237	6975237	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	4.469000	0.60169	0.928000	0.37168	0.533000	0.62120	AGT		0.493	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		242.333831	49	49	284	284	NM_005559	Missense_Mutation	77	244.388304	244.388304	120	0.390863	0	0	0	1	0	77	120	0.390863	A	6985237	T	A	6985237	5	1	71	1	0	0	0	0	0	0	1	0	8605	1594	55	5	3668	5	LAMA1	18	6985237	Splice_Site	SNP	T	TCGA-WC-A885-01A-11D-A39W-08		6985237	71092011	27	1341											
MRPL4	51073	broad.mit.edu	37	19	10365278	10365278	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr19:10365278C>T	ENST00000253099.6	+	4	576	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	MRPL4_ENST00000307422.5_Missense_Mutation_p.H97Y|MRPL4_ENST00000588502.1_Missense_Mutation_p.H96Y|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000393733.2_Missense_Mutation_p.H97Y|MRPL4_ENST00000590669.1_Missense_Mutation_p.H97Y	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	97					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGACATACTGCACCAGGTTGC	0.537																																						ENST00000393733.2											0			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(289-291)Cac>Tac	mitochondrial ribosomal protein L4						225	208	214					19																	10365278		2203	4300	6503	SO:0001583	missense	51073			translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10365278C>T	AB049635	AB049635	CCDS12230.1, CCDS42499.1	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			2012-11-14			ENSG00000105364	ENSG00000105364	ENSG00000105364	ENSG00000105364		"Mitochondrial ribosomal proteins / large subunits"	"Mitochondrial ribosomal proteins / large subunits"	14276	14276	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611823	611823								Standard	Standard	NM_015956	NM_015956		Approved	CGI-28	uc002mnn.3	uc002mnn.3	Q9BYD3	Q9BYD3	OTTHUMG00000180400	OTTHUMG00000180400	ENST00000253099.6:c.289C>T	19.37:g.10365278C>T	ENSP00000253099:p.His97Tyr		MRPL4_ENST00000588502.1_Missense_Mutation_p.H96Y|MRPL4_ENST00000253099.6_Missense_Mutation_p.H97Y|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Missense_Mutation_p.H97Y|MRPL4_ENST00000307422.5_Missense_Mutation_p.H97Y	p.H97Y			Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	4	316	+		Renal(1328;0.0112)	97		A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	ENST00000253099.6	37	c.289C>T	CCDS12230.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205545	0.58234	.	.	ENSG00000105364	ENST00000253099;ENST00000307422;ENST00000393733	.	.	.	4.78	2.65	0.31530	4.78	2.65	0.31530	Ribosomal protein L4 domain (1);	0.053696	0.64402	D	0.000001	T	0.67998	0.2953	M	0.70275	2.135	0.51012	D	0.999909	D;D	0.62365	0.972;0.991	P;P	0.61722	0.828;0.893	T	0.66956	-0.5792	9	0.52906	T	0.07	-27.9053	9.1055	0.36696	0.0:0.8186:0.0:0.1814	.	97;97	Q9BYD3-2;Q9BYD3	.;RM04_HUMAN	Y	97	.	ENSP00000253099:H97Y	H	+	1	0	0	MRPL4	10226278	10226278	1.000000	0.71417	0.959000	0.39883	0.352000	0.29268	4.944000	0.63561	0.545000	0.28902	0.555000	0.69702	CAC		0.537	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1		182.447738	29	29	247	247			61	183.062543	183.062543	81	0.429577	0	0	0	1	0	61	81	0.429577	T	10365278	C	T	10365278	3	4	71	1	0	0	0	0	1	0	0	0	9803	710	25	2	303	2	MRPL4	19	10365278	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		10365278	48763705	28	1342											
FAM187B	148109	broad.mit.edu	37	19	35719115	35719115	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr19:35719115G>A	ENST00000324675.3	-	1	517	c.469C>T	c.(469-471)Ccg>Tcg	p.P157S		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	157						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CACTCGCCCGGCTCCTCACAG	0.607																																						ENST00000324675.3											0			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(469-471)Ccg>Tcg	family with sequence similarity 187, member B						66	66	66					19																	35719115		2203	4300	6503	SO:0001583	missense	148109				integral to membrane		g.chr19:35719115G>A	AK098526	AK098526	CCDS12448.1	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558	ENSG00000177558	ENSG00000177558				26366	26366	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"transmembrane protein 162"	TMEM162	"transmembrane protein 162"	TMEM162				Standard	Standard	NM_152481	NM_152481		Approved	FLJ25660	uc002nyk.1	uc002nyk.1	Q17R55	Q17R55	OTTHUMG00000164450	OTTHUMG00000164450	ENST00000324675.3:c.469C>T	19.37:g.35719115G>A	ENSP00000323355:p.Pro157Ser			p.P157S	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	517	-			157		Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.469C>T	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759151	0.49468	.	.	ENSG00000177558	ENST00000324675	T	0.22743	1.94	5.07	4.01	0.46588	5.07	4.01	0.46588	.	0.811537	0.10685	N	0.645876	T	0.36963	0.0986	L	0.45581	1.43	0.09310	N	1	D	0.67145	0.996	P	0.62813	0.907	T	0.14531	-1.0469	10	0.56958	D	0.05	-12.3117	11.7034	0.51583	0.0:0.1786:0.8214:0.0	.	157	Q17R55	F187B_HUMAN	S	157	ENSP00000323355:P157S	ENSP00000323355:P157S	P	-	1	0	0	FAM187B	40410955	40410955	0.335000	0.24748	0.001000	0.08648	0.010000	0.07245	3.102000	0.50291	1.214000	0.43395	0.655000	0.94253	CCG		0.607	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1		68.049015	21	21	87	87	NM_152481		22	68.049015	68.049015	22	0.5	0	0	0	1	0	22	22	0.5	A	35719115	G	A	35719115	3	1	71	1	0	0	0	0	1	0	0	0	5513	1203	42	2	648	2	FAM187B	19	35719115	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08	25353837	35719115	23409868	29	1343											
ZNF335	63925	broad.mit.edu	37	20	44579207	44579207	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr20:44579207G>A	ENST00000322927.2	-	21	3317	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W	ZNF335_ENST00000426788.1_Missense_Mutation_p.R918W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1073					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGGTGGGGCCGTAGGCTTGAG	0.582																																						ENST00000322927.2											0			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3217-3219)Cgg>Tgg	zinc finger protein 335						132	143	140					20																	44579207		2203	4300	6503	SO:0001583	missense	63925			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44579207G>A	AK026157	AK026157	CCDS13389.1	CCDS13389.1	20q13.12	2011-09-12			2011-09-12			ENSG00000198026	ENSG00000198026	ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	15807	15807	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	"NRC-interacting factor 1"	610827	610827						12215545, 19131338	12215545, 19131338	Standard	Standard	NM_022095	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	uc002xqw.3	Q9H4Z2	Q9H4Z2	OTTHUMG00000032637	OTTHUMG00000032637	ENST00000322927.2:c.3217C>T	20.37:g.44579207G>A	ENSP00000325326:p.Arg1073Trp		ZNF335_ENST00000426788.1_Missense_Mutation_p.R918W	p.R1073W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			21	3317	-		Myeloproliferative disorder(115;0.0122)	1073		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.3217C>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618895	0.66787	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.17854	2.25;2.25	4.82	3.85	0.44370	4.82	3.85	0.44370	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63829	-0.6548	10	0.87932	D	0	-33.4049	13.4975	0.61434	0.0:0.0:0.8375:0.1625	.	918;1073	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	W	1073;850;918	ENSP00000325326:R1073W;ENSP00000397098:R918W	ENSP00000243961:R850W	R	-	1	2	2	ZNF335	44012614	44012614	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.921000	0.63397	1.341000	0.45600	0.563000	0.77884	CGG		0.582	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1		-26.823814	30	30	221	221	NM_022095		4	6.32796	6.32796	132	0.029412	0	0	0	1	0	4	132	0.029412	A	44579207	G	A	44579207	3	1	71	1	0	0	0	0	1	0	0	0	17849	1144	40	1	843	1	ZNF335	20	44579207	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		44579207	18446313	30	1344											
COL18A1	80781	broad.mit.edu	37	21	46930115	46930115	+	Silent	SNP	G	G	A			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	g.chr21:46930115G>A	ENST00000359759.4	+	39	4899	c.4878G>A	c.(4876-4878)caG>caA	p.Q1626Q	COL18A1_ENST00000400337.2_Silent_p.Q1211Q|COL18A1_ENST00000355480.5_Silent_p.Q1391Q|SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000468508.1_5'Flank			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1626	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGCGCCTGCAGGACCTGTACA	0.726																																						ENST00000359759.4											0			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(4876-4878)caG>caA	collagen, type XVIII, alpha 1						8	11	10					21																	46930115		2006	4132	6138	SO:0001819	synonymous_variant	80781			cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46930115G>A			CCDS42971.1, CCDS42972.1	CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			2013-01-16			ENSG00000182871	ENSG00000182871	ENSG00000182871	ENSG00000182871		"Collagens"	"Collagens"	2195	2195	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"endostatin"	"endostatin"	120328	120328	"Knobloch syndrome, type 1"	KNO	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	8188291, 8776601, 10942434, 17546652	Standard	Standard	NM_130445	NM_130445		Approved	KS, KNO1	uc002zhi.3	uc002zhi.3	P39060	P39060	OTTHUMG00000090407	OTTHUMG00000090407	ENST00000359759.4:c.4878G>A	21.37:g.46930115G>A			COL18A1_ENST00000400337.2_Silent_p.Q1211Q|COL18A1_ENST00000355480.5_Silent_p.Q1391Q|SLC19A1_ENST00000567670.1_Intron	p.Q1626Q			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	39	4899	+			1626	Nonhelical region 11 (NC11).	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.4878G>A		.	.	.	.	.	.	.	.	.	.	G	9.305	1.053998	0.19907	.	.	ENSG00000182871	ENST00000423214	.	.	.	4.46	1.57	0.23409	4.46	1.57	0.23409	.	.	.	.	.	T	0.55721	0.1938	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48222	-0.9054	4	.	.	.	.	8.1174	0.30950	0.3609:0.0:0.6391:0.0	.	.	.	.	K	196	.	.	R	+	2	0	0	COL18A1	45754543	45754543	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	0.958000	0.29227	0.444000	0.26612	-0.137000	0.14449	AGG		0.726	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		12.701495	3	3	14	14			4	12.848921	12.848921	2	0.666667	0	0	0	1	0	4	2	0.666667	A	46930115	G	A	46930115	2	1	71	1	0	0	0	0	0	0	0	1	3675	991	35	3		3	COL18A1	21	46930115	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		46930115	1199780	31	1345											
CADM3	57863	broad.mit.edu	37	1	159162404	159162404	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr1:159162404C>T	ENST00000368125.4	+	3	423	c.266C>T	c.(265-267)aCg>aTg	p.T89M	CADM3_ENST00000368124.4_Missense_Mutation_p.T123M	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	89	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T123M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTTACCTCTACGCCCCACGAG	0.507																																						ENST00000368125.4											1	Substitution - Missense(1)	skin(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(265-267)aCg>aTg	cell adhesion molecule 3						143	119	127					1																	159162404		2203	4300	6503	SO:0001583	missense	57863			adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162404C>T	AY046418	AY046418	CCDS1182.1, CCDS44251.1	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	17601	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nectin-like 1"	"nectin-like 1"	609743	609743	"immunoglobulin superfamily, member 4B"	IGSF4B	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	11536053	Standard	Standard	NM_021189	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	uc001ftk.2	Q8N126	Q8N126	OTTHUMG00000037177	OTTHUMG00000037177	ENST00000368125.4:c.266C>T	1.37:g.159162404C>T	ENSP00000357107:p.Thr89Met		CADM3_ENST00000368124.4_Missense_Mutation_p.T123M	p.T89M	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			3	423	+	all_hematologic(112;0.0429)		89	Ig-like V-type.	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.266C>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402662	0.42613	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	D;D;D	0.84660	-1.88;-1.88;-1.88	5.22	5.22	0.72569	5.22	5.22	0.72569	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068114	0.56097	D	0.000036	D	0.87458	0.6182	L	0.61218	1.895	0.28871	N	0.894971	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.71656	0.89;0.974;0.905	T	0.83035	-0.0160	10	0.87932	D	0	.	11.9319	0.52851	0.0:0.8253:0.1747:0.0	.	89;89;123	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	M	123;89;89	ENSP00000357106:T123M;ENSP00000357107:T89M;ENSP00000387802:T89M	ENSP00000357106:T123M	T	+	2	0	0	CADM3	157429028	157429028	0.921000	0.31238	0.077000	0.20336	0.089000	0.18198	5.400000	0.66320	2.708000	0.92522	0.650000	0.86243	ACG		0.507	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1		20.913589	12	12	76	76	NM_021189		10	27.454489	27.454489	51	0.163934	0	0	0	1	0	10	51	0.163934	T	159162404	C	T	159162404	3	4	72	1	0	0	0	0	1	0	0	0	2568	536	19	1	382	1	CADM3	1	159162404	Missense_Mutation	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		159162404	90088217	1	1346											
DDR2	4921	broad.mit.edu	37	1	162737092	162737092	+	Silent	SNP	C	C	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr1:162737092C>T	ENST00000367922.3	+	12	1674	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	DDR2_ENST00000367921.3_Silent_p.L412L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	412					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCTTTATCCTCCTGGCCATCA	0.483																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.3											0			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(1234-1236)ctC>ctT	discoidin domain receptor tyrosine kinase 2						166	149	154					1																	162737092		2203	4300	6503	SO:0001819	synonymous_variant	4921			cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162737092C>T	AK095975	AK095975	CCDS1241.1	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	ENSG00000162733	ENSG00000162733	2.7.10.1			2731	2731	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			191311	191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	9659899	Standard	Standard	XM_005245221	XM_005245221		Approved	TKT	uc001gcg.3	uc001gcg.3	Q16832	Q16832	OTTHUMG00000034423	OTTHUMG00000034423	ENST00000367922.3:c.1236C>T	1.37:g.162737092C>T			DDR2_ENST00000367921.3_Silent_p.L412L	p.L412L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		12	1674	+	all_hematologic(112;0.115)				Q7Z730	Silent	SNP	ENST00000367922.3	37	c.1236C>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417808	0.25552	.	.	ENSG00000162733	ENST00000433757	.	.	.	5.79	-2.79	0.05841	5.79	-2.79	0.05841	.	.	.	.	.	T	0.19685	0.0473	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	T	0.23904	-1.0175	3	.	.	.	.	8.0521	0.30583	0.0:0.1749:0.5007:0.3243	.	.	.	.	S	5	.	.	P	+	1	0	0	DDR2	161003716	161003716	0.478000	0.25917	0.987000	0.45799	0.998000	0.95712	-0.415000	0.07106	-0.133000	0.11537	0.655000	0.94253	CCT		0.483	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2		53.331744	-21	-21	79	79	NM_006182		21	58.639751	58.639751	66	0.241379	0	0	0	1	0	21	66	0.241379	T	162737092	C	T	162737092	2	4	72	1	0	0	0	0	0	0	0	1	4337	842	30	3		3	DDR2	1	162737092	Silent	SNP	C	TCGA-WC-A888-01A-11D-A39W-08	3574688	162737092	86513529	2	1347											
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3											4	Substitution - Missense(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt	hydroxysteroid (17-beta) dehydrogenase 7						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478			cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	AF098786	CCDS1242.1	CCDS1242.1	1q23	2011-09-14			2011-09-14			ENSG00000132196	ENSG00000132196	ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	5215	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	"short chain dehydrogenase/reductase family 37C, member 1"	606756	606756						10544267, 10419022, 19027726	10544267, 10419022, 19027726	Standard	Standard	NM_016371	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	uc001gci.3	P56937	P56937	OTTHUMG00000034420	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn		HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173		Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	0	HSD17B7	161036227	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1		-7.666666	-24	-24	36	36	NM_016371		4	8.407219	8.407219	72	0.052632	0	0	0	1	0	4	72	0.052632	A	162769603	G	A	162769603	3	1	72	1	0	0	0	0	1	0	0	0	7388	1029	36	3	536	3	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08	32511	162769603	86481018	3	1348											
SPTBN1	6711	broad.mit.edu	37	2	54845327	54845327	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr2:54845327G>A	ENST00000356805.4	+	7	1041	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E241K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	254	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTTGGACCCCGAAGGTAGGGA	0.428																																						ENST00000333896.5											0			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(721-723)Gaa>Aaa	spectrin, beta, non-erythrocytic 1						61	59	60					2																	54845327		2203	4300	6503	SO:0001583	missense	0			actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54845327G>A			CCDS33198.1, CCDS33199.1	CCDS33198.1, CCDS33199.1	2p21	2013-01-10			2013-01-10			ENSG00000115306	ENSG00000115306	ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	11275	11275	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			182790	182790								Standard	Standard	NM_003128	NM_003128		Approved		uc002rxu.3	uc002rxu.3	Q01082	Q01082	OTTHUMG00000133746	OTTHUMG00000133746	ENST00000356805.4:c.760G>A	2.37:g.54845327G>A	ENSP00000349259:p.Glu254Lys		SPTBN1_ENST00000356805.4_Missense_Mutation_p.E254K	p.E241K	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		6	1106	+			254	Actin-binding.|CH 2.	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.721G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.957391	0.97145	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;D	0.97620	-0.31;-0.31;-4.46	5.56	5.56	0.83823	5.56	5.56	0.83823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.76575	0.988;0.827	D	0.99533	1.0961	10	0.87932	D	0	.	19.5255	0.95203	0.0:0.0:1.0:0.0	.	241;254	Q01082-3;Q01082	.;SPTB2_HUMAN	K	254;254;241	ENSP00000349259:E254K;ENSP00000374630:E254K;ENSP00000334156:E241K	ENSP00000334156:E241K	E	+	1	0	0	SPTBN1	54698831	54698831	1.000000	0.71417	0.983000	0.44433	0.930000	0.56654	9.807000	0.99171	2.624000	0.88883	0.650000	0.86243	GAA		0.428	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		1.262545	-4	-4	49	49			4	9.469446	9.469446	43	0.085106	0	0	0	1	0	4	43	0.085106	A	54845327	G	A	54845327	3	1	72	1	0	0	0	0	1	0	0	0	15118	1059	37	1	895	1	SPTBN1	2	54845327	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		54845327	188354046	4	1349											
SPAG16	79582	broad.mit.edu	37	2	214794781	214794781	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr2:214794781G>A	ENST00000331683.5	+	12	1407	c.1312G>A	c.(1312-1314)Gca>Aca	p.A438T	SPAG16_ENST00000374309.3_Missense_Mutation_p.A344T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	438					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACACAGCCGCGCAGTGTGGTC	0.443																																						ENST00000331683.5											0			endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1312-1314)Gca>Aca	sperm associated antigen 16						111	110	110					2																	214794781		2203	4300	6503	SO:0001583	missense	79582			cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214794781G>A	AF310672	AF310672	CCDS2396.1, CCDS46508.1	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			2013-05-21			ENSG00000144451	ENSG00000144451	ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	"WD repeat domain containing"	23225	23225	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612173	612173						12391165, 11867345	12391165, 11867345	Standard	Standard	NM_024532	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	uc002veq.4	Q8N0X2	Q8N0X2	OTTHUMG00000133015	OTTHUMG00000133015	ENST00000331683.5:c.1312G>A	2.37:g.214794781G>A	ENSP00000332592:p.Ala438Thr		SPAG16_ENST00000374309.3_Missense_Mutation_p.A344T	p.A438T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	12	1407	+		Renal(323;0.00461)	438		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1312G>A	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495707	0.64186	.	.	ENSG00000144451	ENST00000331683;ENST00000374309	T;T	0.59364	0.27;0.27	5.48	5.48	0.80851	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.350989	0.24737	N	0.036001	T	0.65729	0.2719	L	0.38953	1.18	0.53005	D	0.999965	D;D;P;D	0.76494	0.999;0.999;0.869;0.999	D;D;B;D	0.65773	0.938;0.923;0.418;0.938	T	0.58901	-0.7554	10	0.20519	T	0.43	.	17.8902	0.88870	0.0:0.0:1.0:0.0	.	344;289;378;438	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	T	438;344	ENSP00000332592:A438T;ENSP00000363428:A344T	ENSP00000332592:A438T	A	+	1	0	0	SPAG16	214503026	214503026	1.000000	0.71417	0.890000	0.34922	0.148000	0.21650	4.875000	0.63072	2.550000	0.86006	0.655000	0.94253	GCA		0.443	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2		7.749510	-6	-6	86	86	NM_024532		8	19.263683	19.263683	67	0.106667	0	0	0	1	0	8	67	0.106667	A	214794781	G	A	214794781	3	1	72	1	0	0	0	0	1	0	0	0	14978	1087	38	1	1374	1	SPAG16	2	214794781	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08	159949454	214794781	28404592	5	1350											
BAP1	8314	broad.mit.edu	37	3	52441252	52441252	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr3:52441252T>C	ENST00000460680.1	-	7	989	c.518A>G	c.(517-519)tAt>tGt	p.Y173C	BAP1_ENST00000296288.5_Missense_Mutation_p.Y173C	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E166fs*13(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GATAGGCACATAGCTGACAAA	0.582			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(517-519)tAt>tGt	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						80	78	79					3																	52441252		2203	4300	6503	SO:0001583	missense	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52441252T>C	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.518A>G	3:g.52441252T>C	ENSP00000417132:p.Tyr173Cys		BAP1_ENST00000296288.5_Missense_Mutation_p.Y173C	p.Y173C	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	7	989	-			0	Interaction with HIP2.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1		c.518A>G	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489191	0.84962	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.61859	0.07;0.07;0.07	6.05	6.05	0.98169	6.05	6.05	0.98169	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86417	0.1752	10	0.87932	D	0	-9.1034	16.6	0.84812	0.0:0.0:0.0:1.0	.	173	Q92560	BAP1_HUMAN	C	173;173;94	ENSP00000417132:Y173C;ENSP00000296288:Y173C;ENSP00000417776:Y94C	ENSP00000296288:Y173C	Y	-	2	0	0	BAP1	52416292	52416292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.005000	0.88553	2.323000	0.78572	0.533000	0.62120	TAT		0.582	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	1.023000e+01	1.158000e+01	-29	-29	39	39			4			21	0.182						4	21	0.182	C	52441252	T	C	52441252	3	2	72	1	0	0	0	0	1	0	0	0	1311	1406	49	4	1715	4	BAP1	3	52441252	Missense_Mutation	SNP	T	TCGA-WC-A888-01A-11D-A39W-08		52441252	145581178	6	1351											
FAM116A	201627	broad.mit.edu	37	3	57627390	57627390	+	Silent	SNP	A	A	G			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr3:57627390A>G	ENST00000311128.5	-	12	1192	c.1122T>C	c.(1120-1122)ctT>ctC	p.L374L	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	374					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CTGTAGGTTTAAGGTCTCCTA	0.363																																						ENST00000311128.5											0										c.(1120-1122)ctT>ctC	DENN/MADD domain containing 6A						138	129	132					3																	57627390		2203	4300	6503	SO:0001819	synonymous_variant	201627						g.chr3:57627390A>G	AK074156	AK074156	CCDS33773.1	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	"DENN/MADD domain containing"	26635	26635	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"family with sequence similarity 116, member A"	FAM116A	"family with sequence similarity 116, member A"	FAM116A		21330364	21330364	Standard	Standard	NM_152678	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	uc003dja.3	Q8IWF6	Q8IWF6	OTTHUMG00000158639	OTTHUMG00000158639	ENST00000311128.5:c.1122T>C	3.37:g.57627390A>G			RP11-755B10.2_ENST00000470427.1_RNA	p.L374L	NM_152678.2	NP_689891.1					12	1192	-					Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	ENST00000311128.5	37	c.1122T>C	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	A	8.747	0.920335	0.17982	.	.	ENSG00000174839	ENST00000477344	.	.	.	5.26	2.71	0.32032	5.26	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.1716	1.7721	0.03014	0.4697:0.2671:0.1344:0.1288	.	.	.	.	Q	143	.	.	X	-	1	0	0	FAM116A	57602430	57602430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.342000	0.33919	0.335000	0.23614	0.477000	0.44152	TAA		0.363	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1		37.351572	-30	-30	57	57	NM_152678		13	40.481135	40.481135	40	0.245283	0	0	0	1	0	13	40	0.245283	G	57627390	A	G	57627390	2	3	72	1	0	0	0	0	0	0	0	1	5407	349	13	4		4	FAM116A	3	57627390	Silent	SNP	A	TCGA-WC-A888-01A-11D-A39W-08	5186138	57627390	140395040	7	1352											
GPR78	27201	broad.mit.edu	37	4	8588969	8588969	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr4:8588969A>G	ENST00000382487.4	+	3	1388	c.971A>G	c.(970-972)gAc>gGc	p.D324G	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	324					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TCCACCCATGACAGCTCTCTG	0.647																																						ENST00000382487.4											0			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(970-972)gAc>gGc	G protein-coupled receptor 78						45	51	49					4																	8588969		2203	4299	6502	SO:0001583	missense	27201			activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588969A>G	AF411107	AF411107	CCDS3403.1	CCDS3403.1	4p16.1	2012-08-21			2012-08-21			ENSG00000155269	ENSG00000155269	ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	"GPCR / Class A : Orphans"	4528	4528	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606921	606921						11574155	11574155	Standard	Standard	NM_080819	NM_080819		Approved		uc003glk.4	uc003glk.4	Q96P69	Q96P69	OTTHUMG00000128483	OTTHUMG00000128483	ENST00000382487.4:c.971A>G	4.37:g.8588969A>G	ENSP00000371927:p.Asp324Gly		GPR78_ENST00000509216.1_3'UTR	p.D324G	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			3	1388	+			324		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.971A>G	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	A	2.982	-0.210017	0.06140	.	.	ENSG00000155269	ENST00000382487	T	0.61274	0.12	1.91	1.91	0.25777	1.91	1.91	0.25777	.	0.338236	0.24904	N	0.034671	T	0.30665	0.0772	N	0.08118	0	0.22292	N	0.999224	B	0.02656	0.0	B	0.01281	0.0	T	0.14227	-1.0480	10	0.22706	T	0.39	.	7.0915	0.25287	1.0:0.0:0.0:0.0	.	324	Q96P69	GPR78_HUMAN	G	324	ENSP00000371927:D324G	ENSP00000371927:D324G	D	+	2	0	0	GPR78	8639869	8639869	0.998000	0.40836	0.015000	0.15790	0.011000	0.07611	1.532000	0.36029	0.412000	0.25729	0.172000	0.16884	GAC		0.647	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		25.896248	-3	-3	64	64			11	30.295561	30.295561	43	0.203704	0	0	0	1	0	11	43	0.203704	G	8588969	A	G	8588969	3	3	72	1	0	0	0	0	1	0	0	0	6710	275	10	4	981	4	GPR78	4	8588969	Missense_Mutation	SNP	A	TCGA-WC-A888-01A-11D-A39W-08		8588969	182565307	8	1353											
ARAP3	64411	broad.mit.edu	37	5	141059986	141059986	+	Missense_Mutation	SNP	T	T	G			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr5:141059986T>G	ENST00000239440.4	-	2	133	c.68A>C	c.(67-69)gAc>gCc	p.D23A	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	23	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCGGAACGTGTCTGCATACTG	0.672																																						ENST00000239440.4											0			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(67-69)gAc>gCc	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3						43	42	42					5																	141059986		2203	4299	6502	SO:0001583	missense	64411			cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059986T>G	AJ310567	AJ310567	CCDS4266.1	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	24097	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606647	606647	"centaurin, delta 3"	CENTD3	"centaurin, delta 3"	CENTD3		11804589, 12015138	11804589, 12015138	Standard	Standard	XM_005268497	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	uc003llm.3	Q8WWN8	Q8WWN8	OTTHUMG00000129610	OTTHUMG00000129610	ENST00000239440.4:c.68A>C	5.37:g.141059986T>G	ENSP00000239440:p.Asp23Ala		ARAP3_ENST00000508305.1_5'UTR	p.D23A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			2	133	-			23	SAM.	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.68A>C	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.505405	0.64410	.	.	ENSG00000120318	ENST00000239440;ENST00000504448	D;D	0.86956	-2.19;-2.19	4.39	4.39	0.52855	4.39	4.39	0.52855	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.88869	0.6554	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85687	0.1304	10	0.02654	T	1	.	11.0754	0.48027	0.0:0.0:0.0:1.0	.	23	Q8WWN8	ARAP3_HUMAN	A	23	ENSP00000239440:D23A;ENSP00000421148:D23A	ENSP00000239440:D23A	D	-	2	0	0	ARAP3	141040170	141040170	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.432000	0.59922	1.842000	0.53543	0.379000	0.24179	GAC		0.672	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1		3.469072	-12	-12	55	55	NM_022481		4	10.117667	10.117667	37	0.097561	0	0	0	1	0	4	37	0.097561	G	141059986	T	G	141059986	3	3	72	1	0	0	0	0	1	0	0	0	840	1667	58	5	4694	5	ARAP3	5	141059986	Missense_Mutation	SNP	T	TCGA-WC-A888-01A-11D-A39W-08		141059986	39855274	9	1354											
OR9A4	130075	broad.mit.edu	37	7	141618729	141618729	+	Silent	SNP	C	C	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr7:141618729C>A	ENST00000548136.1	+	1	113	c.54C>A	c.(52-54)ggC>ggA	p.G18G	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GCTTCCCTGGCTCTGAAGAAC	0.373																																						ENST00000548136.1											0			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(52-54)ggC>ggA	olfactory receptor, family 9, subfamily A, member 4						240	245	243					7																	141618729		2131	4271	6402	SO:0001819	synonymous_variant	130075			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618729C>A			CCDS43661.1	CCDS43661.1	7q34	2012-10-03			2012-10-03			ENSG00000258083	ENSG00000258083	ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	15095	15095	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001001656	NM_001001656		Approved		uc003vwu.1	uc003vwu.1	Q8NGU2	Q8NGU2	OTTHUMG00000158370	OTTHUMG00000158370	ENST00000548136.1:c.54C>A	7.37:g.141618729C>A			MGAM_ENST00000497554.1_Intron	p.G18G	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	113	+	Melanoma(164;0.0171)		18		B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	c.54C>A	CCDS43661.1																																																																																									0.373	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3		2.536394	16	16	184	184	NM_001001656		11	24.507603	24.507603	116	0.086614	1	0	1.61879e-10	1	1.77296e-10	11	116	0.086614	A	141618729	C	A	141618729	2	1	72	1	0	0	0	0	0	0	0	1	11249	784	28	5		5	OR9A4	7	141618729	Silent	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		141618729	17519934	10	1355											
CACNA1B	774	broad.mit.edu	37	9	141016204	141016204	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr9:141016204C>T	ENST00000371372.1	+	47	6918	c.6773C>T	c.(6772-6774)cCt>cTt	p.P2258L	CACNA1B_ENST00000371355.4_Missense_Mutation_p.P2259L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P2257L|CACNA1B_ENST00000277549.5_Missense_Mutation_p.P1452L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P2256L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2196F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2258					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTCTGACCCTTACCTGGGG	0.667																																						ENST00000277549.5											0			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4354-4356)cCt>cTt	calcium channel, voltage-dependent, N type, alpha 1B subunit						35	40	38					9																	141016204		2001	4160	6161	SO:0001583	missense	774			membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141016204C>T	AB209467	AB209467	CCDS59522.1, CCDS59523.1	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408	ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	1389	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601012	601012		CACNL1A5		CACNL1A5		8825650, 16382099	8825650, 16382099	Standard	Standard	NM_000718	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	uc004cog.3	Q00975	Q00975	OTTHUMG00000021002	OTTHUMG00000021002	ENST00000371372.1:c.6773C>T	9.37:g.141016204C>T	ENSP00000360423:p.Pro2258Leu		CACNA1B_ENST00000371357.1_Missense_Mutation_p.P2257L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.P2258L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P2259L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2196F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P2256L	p.P1452L			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	47	6924	+	all_cancers(76;0.166)		2258		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4355C>T	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.507888|4.507888	0.85282|0.85282	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000277551|ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D|D;D;D;D;D	0.96587|0.99005	-4.06|-4.9;-5.32;-4.91;-4.89;-4.88	5.11|5.11	5.11|5.11	0.69529|0.69529	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.652243	.|0.14374	.|N	.|0.323603	D|D	0.99227|0.99227	0.9731|0.9731	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.71656	.|0.974;0.904	D|D	0.99878|0.99878	1.1107|1.1107	7|10	0.10111|0.87932	T|D	0.7|0	.|.	18.5267|18.5267	0.90975|0.90975	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2257;2256	.|B1AQK7;B1AQK6	.|.;.	F|L	2196|2258;1452;2256;2257;2259	ENSP00000277551:L2196F|ENSP00000360423:P2258L;ENSP00000277549:P1452L;ENSP00000360414:P2256L;ENSP00000360408:P2257L;ENSP00000360406:P2259L	ENSP00000277551:L2196F|ENSP00000277549:P1452L	L|P	+|+	1|2	0|0	0|0	CACNA1B|CACNA1B	140136025|140136025	140136025|140136025	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.813000|0.813000	0.45954|0.45954	7.213000|7.213000	0.77950|0.77950	2.381000|2.381000	0.81170|0.81170	0.555000|0.555000	0.69702|0.69702	CTT|CCT		0.667	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1		25.429891	9	9	64	64	NM_000718		10	27.529615	27.529615	29	0.25641	0	0	0	1	0	10	29	0.25641	T	141016204	C	T	141016204	3	4	72	1	0	0	0	0	1	0	0	0	2539	681	24	3	6955	3	CACNA1B	9	141016204	Missense_Mutation	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		141016204	197227	11	1356											
TTC18	118491	broad.mit.edu	37	10	75053041	75053041	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr10:75053041C>T	ENST00000310715.3	-	17	2080	c.1960G>A	c.(1960-1962)Gca>Aca	p.A654T	TTC18_ENST00000394865.1_Missense_Mutation_p.A654T|TTC18_ENST00000401621.2_Missense_Mutation_p.A654T|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.A123T	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		654						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TATGCTGCTGCCATCTCAAAG	0.348																																						ENST00000401621.2											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1960-1962)Gca>Aca	tetratricopeptide repeat domain 18						108	95	99					10																	75053041		2203	4300	6503	SO:0001583	missense	118491					binding	g.chr10:75053041C>T																																																	ENST00000310715.3:c.1960G>A	10.37:g.75053041C>T	ENSP00000310829:p.Ala654Thr		TTC18_ENST00000394865.1_Missense_Mutation_p.A654T|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.A123T|TTC18_ENST00000310715.3_Missense_Mutation_p.A654T|TTC18_ENST00000340329.3_Intron	p.A654T			Q5T0N1	TTC18_HUMAN			17	2080	-	Prostate(51;0.0119)		654		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.1960G>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767914	0.90020	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	D;D;T;D	0.94232	-3.38;-3.38;-0.66;-3.38	5.63	5.63	0.86233	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97782	1.0233	10	0.87932	D	0	-20.0741	17.1754	0.86840	0.0:1.0:0.0:0.0	.	654	Q5T0N1	TTC18_HUMAN	T	654;654;654;61;654	ENSP00000310829:A654T;ENSP00000384479:A654T;ENSP00000409527:A61T;ENSP00000378334:A654T	ENSP00000310829:A654T	A	-	1	0	0	TTC18	74723047	74723047	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.093000	0.71422	2.632000	0.89209	0.557000	0.71058	GCA		0.348	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			13.230382	-35	-35	39	39			6	16.368563	16.368563	27	0.181818	0	0	0	1	0	6	27	0.181818	T	75053041	C	T	75053041	3	4	72	1	0	0	0	0	1	0	0	0	16682	739	26	2	1453	2	TTC18	10	75053041	Missense_Mutation	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		75053041	60481706	12	1357											
OR5B21	219968	broad.mit.edu	37	11	58274720	58274720	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr11:58274720A>G	ENST00000360374.2	-	1	858	c.859T>C	c.(859-861)Tac>Cac	p.Y287H		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTAAGGCTGTATATCAAGGGA	0.418																																						ENST00000360374.2											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(859-861)Tac>Cac	olfactory receptor, family 5, subfamily B, member 21						145	142	143					11																	58274720		2201	4295	6496	SO:0001583	missense	219968			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58274720A>G			CCDS31552.1	CCDS31552.1	11q12.1	2012-08-09			2012-08-09			ENSG00000198283	ENSG00000198283	ENSG00000198283	ENSG00000198283		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	19616	19616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001005218	NM_001005218		Approved		uc010rki.2	uc010rki.2	A6NL26	A6NL26	OTTHUMG00000167519	OTTHUMG00000167519	ENST00000360374.2:c.859T>C	11.37:g.58274720A>G	ENSP00000353537:p.Tyr287His			p.Y287H	NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN			1	858	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	287			Missense_Mutation	SNP	ENST00000360374.2	37	c.859T>C	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036007	0.75617	.	.	ENSG00000198283	ENST00000360374	T	0.61859	0.07	4.84	4.84	0.62591	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	U	0.004646	D	0.84110	0.5400	H	0.98218	4.175	0.44388	D	0.997297	D	0.89917	1.0	D	0.97110	1.0	D	0.89643	0.3864	10	0.87932	D	0	-1.8995	13.392	0.60829	1.0:0.0:0.0:0.0	.	287	A6NL26	OR5BL_HUMAN	H	287	ENSP00000353537:Y287H	ENSP00000353537:Y287H	Y	-	1	0	0	OR5B21	58031296	58031296	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	8.918000	0.92759	2.024000	0.59613	0.533000	0.62120	TAC		0.418	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1		37.508965	-25	-25	171	171	NM_001005218		20	55.6484	55.6484	124	0.138889	0	0	0	1	0	20	124	0.138889	G	58274720	A	G	58274720	3	3	72	1	0	0	0	0	1	0	0	0	11151	449	16	4	72	4	OR5B21	11	58274720	Missense_Mutation	SNP	A	TCGA-WC-A888-01A-11D-A39W-08		58274720	76731796	13	1358											
ANGEL1	23357	broad.mit.edu	37	14	77273137	77273137	+	Silent	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr14:77273137G>A	ENST00000251089.2	-	5	1114	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	ANGEL1_ENST00000554941.1_5'Flank|ANGEL1_ENST00000557179.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTTGTAGCAGACAGCACAGC	0.512																																						ENST00000251089.2											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(1000-1002)gtC>gtT	angel homolog 1 (Drosophila)						169	180	177					14																	77273137		2203	4300	6503	SO:0001819	synonymous_variant	23357						g.chr14:77273137G>A	AF111169	AF111169	CCDS9852.1	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523	ENSG00000013523	ENSG00000013523				19961	19961	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						KIAA0759		KIAA0759		11943475	11943475	Standard	Standard	NM_015305	NM_015305		Approved	Ccr4e	uc001xsv.3	uc001xsv.3	Q9UNK9	Q9UNK9	OTTHUMG00000171494	OTTHUMG00000171494	ENST00000251089.2:c.1002C>T	14.37:g.77273137G>A				p.V334V	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	5	1114	-			334		B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.1002C>T	CCDS9852.1																																																																																									0.512	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2		-33.350294	-5	-5	214	214	NM_015305		4	6.985138	6.985138	157	0.024845	0	0	0	1	0	4	157	0.024845	A	77273137	G	A	77273137	2	1	72	1	0	0	0	0	0	0	0	1	608	929	33	3		3	ANGEL1	14	77273137	Silent	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		77273137	30076403	14	1359											
SPAG5	10615	broad.mit.edu	37	17	26906802	26906802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr17:26906802G>A	ENST00000321765.5	-	17	3183	c.2851C>T	c.(2851-2853)Cga>Tga	p.R951*	ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	951					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GATGCTACTCGGGTGAAAGCA	0.502																																						ENST00000321765.5											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2851-2853)Cga>Tga	sperm associated antigen 5						149	153	152					17																	26906802		2203	4300	6503	SO:0001587	stop_gained	10615			cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26906802G>A	AF063308	AF063308	CCDS32594.1	CCDS32594.1	17q11.2	2008-07-18			2008-07-18			ENSG00000076382	ENSG00000076382	ENSG00000076382	ENSG00000076382				13452	13452	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562	615562						11549262	11549262	Standard	Standard	NM_006461	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	uc002hbq.3	Q96R06	Q96R06	OTTHUMG00000166586	OTTHUMG00000166586	ENST00000321765.5:c.2851C>T	17.37:g.26906802G>A	ENSP00000323300:p.Arg951*			p.R951*	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			17	3183	-	Lung NSC(42;0.00431)		951		O95213|Q9BWE8|Q9NT17|Q9UFE6	Nonsense_Mutation	SNP	ENST00000321765.5	37	c.2851C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	g	41	8.587239	0.98875	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.4	3.38	0.38709	5.4	3.38	0.38709	.	0.148155	0.30365	N	0.009799	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7226	10.8941	0.47012	0.0:0.0:0.6404:0.3596	.	.	.	.	X	951	.	ENSP00000323300:R951X	R	-	1	2	2	SPAG5	23930929	23930929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.605000	0.24179	0.813000	0.34350	0.645000	0.84053	CGA		0.502	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2		14.622097	-41	-41	140	140	NM_006461		12	31.26682	31.26682	98	0.109091	0	0	0	1	0	12	98	0.109091	A	26906802	G	A	26906802	4	1	72	1	0	0	0	0	0	1	0	0	14981	1124	39	1	762	1	SPAG5	17	26906802	Nonsense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		26906802	54288408	15	1360											
SFRS2	6427	broad.mit.edu	37	17	74732373	74732390	+	In_Frame_Del	DEL	GATCTGGAGACCGACGAG	GATCTGGAGACCGACGAG	-			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr17:74732373_74732390delGATCTGGAGACCGACGAG	ENST00000392485.2	-	2	691_708	c.519_536delCTCGTCGGTCTCCAGATC	c.(517-537)tcctcgtcggtctccagatct>tct	p.173_179SSSVSRS>S	MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_In_Frame_Del_p.161_167SSSVSRS>S|MFSD11_ENST00000590514.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_In_Frame_Del_p.173_179SSSVSRS>S|MFSD11_ENST00000355954.3_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	173	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.S179C(1)|p.S159C(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CCGCGAACGAGATCTGGAGACCGACGAGGACTTGGACT	0.615			Mis		"MDS, CLL"																																	ENST00000392485.2		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	2	Substitution - Missense(2)	lung(2)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(517-537)tcctcgtcggtctccagatct>tct	serine/arginine-rich splicing factor 2																																			SO:0001651	inframe_deletion	6427			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732373_74732390delGATCTGGAGACCGACGAG	M90104	M90104	CCDS11749.1	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	10783	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"SR splicing factor 2"	"SR splicing factor 2"	600813	600813	"splicing factor, arginine/serine-rich 2"	SFRS2	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	8530103, 20516191	Standard	Standard	NM_003016	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	uc002jsv.3	Q01130	Q01130			ENST00000392485.2:c.519_536delCTCGTCGGTCTCCAGATC	17.37:g.74732373_74732390delGATCTGGAGACCGACGAG	ENSP00000376276:p.Ser173_Arg178del		SRSF2_ENST00000508921.3_In_Frame_Del_p.161_167SSSVSRS>S|SRSF2_ENST00000359995.5_In_Frame_Del_p.173_179SSSVSRS>S|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR	p.173_179SSSVSRS>S	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	691_708	-			173	Arg/Ser-rich (RS domain).	B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	ENST00000392485.2	37	c.519_536delCTCGTCGGTCTCCAGATC	CCDS11749.1																																																																																									0.615	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	.	.	-19	-19	72	72	NM_003016		10			56	0.15						10	56	0.15	-	74732390	GATCTGGAGACCGACGAG	-	74732373	7	5	72	1	0	1	0	1	0	0	0	0	14175	942	33	0	133	0	SFRS2	17	74732373	In_Frame_Del	DEL	GATCTGGAGACCGACGAG	TCGA-WC-A888-01A-11D-A39W-08	47825571	74732373	6462837	16	1361											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		46.184060	-28	-28	53	53	NM_002067		16	47.36486	47.36486	32	0.333333	0	0	0	1	0	16	32	0.333333	T	3118942	A	T	3118942	3	4	72	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A888-01A-11D-A39W-08		3118942	56010041	17	1362											
OGFR	11054	broad.mit.edu	37	20	61444363	61444363	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr20:61444363delG	ENST00000290291.6	+	7	1421	c.1396delG	c.(1396-1398)gggfs	p.G466fs	OGFR_ENST00000370461.1_Frame_Shift_Del_p.G414fs	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	466					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					TGAGGGTGCTGGGGACAGTGC	0.697																																						ENST00000370461.1											0			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1240-1242)gggfs	opioid growth factor receptor						33	37	36					20																	61444363		2193	4292	6485	SO:0001589	frameshift_variant	11054			regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444363delG	AF109134	AF109134	CCDS13504.1	CCDS13504.1	20q13.3	2008-05-02			2008-05-02			ENSG00000060491	ENSG00000060491	ENSG00000060491	ENSG00000060491				15768	15768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606459	606459						10677613	10677613	Standard	Standard	NM_007346	NM_007346		Approved	7-60	uc002ydj.3	uc002ydj.3	Q9NZT2	Q9NZT2	OTTHUMG00000032937	OTTHUMG00000032937	ENST00000290291.6:c.1396delG	20.37:g.61444363delG	ENSP00000290291:p.Gly466fs		OGFR_ENST00000290291.6_Frame_Shift_Del_p.G466fs	p.G414fs			Q9NZT2	OGFR_HUMAN			5	3517	+	Breast(26;3.65e-08)		466		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Frame_Shift_Del	DEL	ENST00000290291.6	37	c.1240delG	CCDS13504.1																																																																																									0.697	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1	.	.	-1	-1	12	12			2			4	0.33						2	4	0.33	-	61444363	G	-	61444363	7	5	72	1	0	1	0	1	0	0	0	0	10843	1348	47	0	1422	0	OGFR	20	61444363	Frame_Shift_Del	DEL	G	TCGA-WC-A888-01A-11D-A39W-08		61444363	1581157	18	1363											
LIPI	149998	broad.mit.edu	37	21	15554114	15554114	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr21:15554114G>T	ENST00000536861.1	-	4	607	c.608C>A	c.(607-609)gCa>gAa	p.A203E	LIPI_ENST00000344577.2_Missense_Mutation_p.A224E			Q6XZB0	LIPI_HUMAN	lipase, member I	203					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CACAAACTTTGCATCCGTGTA	0.388																																						ENST00000344577.2											0			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(670-672)gCa>gAa	lipase, member I						103	96	98					21																	15554114		2203	4300	6503	SO:0001583	missense	149998			lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15554114G>T	BC028732	BC028732	CCDS13564.1	CCDS13564.1	21q11.2	2012-07-31			2012-07-31			ENSG00000188992	ENSG00000188992	ENSG00000188992	ENSG00000188992				18821	18821	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252	609252						12719377	12719377	Standard	Standard	XM_005260924	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	uc002yjm.3	Q6XZB0	Q6XZB0	OTTHUMG00000074258	OTTHUMG00000074258	ENST00000536861.1:c.608C>A	21.37:g.15554114G>T	ENSP00000440381:p.Ala203Glu		LIPI_ENST00000536861.1_Missense_Mutation_p.A203E	p.A224E	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	4	696	-			203		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.671C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.05|19.05	3.752436|3.752436	0.69533|0.69533	.|.	.|.	ENSG00000188992|ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211	D;D|.	0.95001|.	-3.58;-3.58|.	5.46|5.46	5.46|5.46	0.80206|0.80206	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91009|.	0.7172|.	H|H	0.98446|0.98446	4.235|4.235	0.52099|0.52099	D|D	0.999943|0.999943	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|.	0.94103|.	0.7364|.	10|.	0.87932|.	D|.	0|.	.|.	19.3027|19.3027	0.94149|0.94149	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	203;224|.	G1JSG6;Q6XZB0-2|.	.;.|.	E|X	224;203;98|82	ENSP00000343331:A224E;ENSP00000440381:A203E|.	ENSP00000343331:A224E|.	A|C	-|-	2|3	0|2	0|2	LIPI|LIPI	14475985|14475985	14475985|14475985	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.375000|0.375000	0.29983|0.29983	8.714000|8.714000	0.91412|0.91412	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.388	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			4.903207	0	0	52	52	NM_198996		6	14.240812	14.240812	53	0.101695	1	0	5.9392e-07	1	5.9392e-07	6	53	0.101695	T	15554114	G	T	15554114	3	4	72	1	0	0	0	0	1	0	0	0	8825	1319	46	5	802	5	LIPI	21	15554114	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		15554114	32575781	19	1364											
OSM	5008	broad.mit.edu	37	22	30661053	30661053	+	Missense_Mutation	SNP	G	G	T	rs149963275		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr22:30661053G>T	ENST00000215781.2	-	2	155	c.115C>A	c.(115-117)Ctt>Att	p.L39I	OSM_ENST00000403389.1_Missense_Mutation_p.L18I|OSM_ENST00000403463.1_Intron	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	39					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGCTGGCCAAGGAGCACGCGG	0.577																																						ENST00000215781.2											0			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11						c.(115-117)Ctt>Att	oncostatin M						146	134	138					22																	30661053		2203	4300	6503	SO:0001583	missense	5008			cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30661053G>T	AF129855	AF129855	CCDS13873.1	CCDS13873.1	22q12.2	2011-07-21			2011-07-21			ENSG00000099985	ENSG00000099985	ENSG00000099985	ENSG00000099985				8506	8506	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			165095	165095						1717982	1717982	Standard	Standard	NM_020530	NM_020530		Approved	MGC20461	uc003ahb.3	uc003ahb.3	P13725	P13725	OTTHUMG00000150913	OTTHUMG00000150913	ENST00000215781.2:c.115C>A	22.37:g.30661053G>T	ENSP00000215781:p.Leu39Ile		OSM_ENST00000403389.1_Missense_Mutation_p.L18I|OSM_ENST00000403463.1_Intron	p.L39I	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	Epithelial(10;0.206)		2	155	-			39		Q6FHP8|Q9UCP6	Missense_Mutation	SNP	ENST00000215781.2	37	c.115C>A	CCDS13873.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829116	0.71258	.	.	ENSG00000099985	ENST00000215781;ENST00000403389	T	0.61392	0.11	3.69	3.69	0.42338	3.69	3.69	0.42338	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.33364	N	0.004993	T	0.63593	0.2524	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.65372	-0.6184	10	0.62326	D	0.03	-21.8977	11.2324	0.48920	0.0:0.0:1.0:0.0	.	39	P13725	ONCM_HUMAN	I	39;18	ENSP00000215781:L39I	ENSP00000215781:L39I	L	-	1	0	0	OSM	28991053	28991053	0.980000	0.34600	0.642000	0.29436	0.098000	0.18820	1.876000	0.39588	2.372000	0.80975	0.561000	0.74099	CTT		0.577	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1		12.855980	0	0	147	147	NM_020530		11	26.173316	26.173316	82	0.11828	1	0	4.68919e-08	1	4.90233e-08	11	82	0.11828	T	30661053	G	T	30661053	3	4	72	1	0	0	0	0	1	0	0	0	11291	1000	35	5	651	5	OSM	22	30661053	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		30661053	20643513	20	1365											
SGSM3	27352	broad.mit.edu	37	22	40801734	40801734	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	g.chr22:40801734G>A	ENST00000248929.9	+	8	889	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	SGSM3_ENST00000454798.2_Missense_Mutation_p.A167T	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCTGCTCCCCGCCTCCTACTT	0.647																																						ENST00000248929.9											0			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(700-702)Gcc>Acc	small G protein signaling modulator 3						104	105	104					22																	40801734		2203	4300	6503	SO:0001583	missense	27352			cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40801734G>A	AL022238	AL022238	CCDS14002.1	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	"Small G protein signaling modulators"	25228	25228	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	"RUN and SH3 containing 3"	610440	610440	"RUN and TBC1 domain containing 3"	RUTBC3	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	11214971, 17509819	Standard	Standard	XM_005261572	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	uc003ayu.1	Q96HU1	Q96HU1	OTTHUMG00000151141	OTTHUMG00000151141	ENST00000248929.9:c.700G>A	22.37:g.40801734G>A	ENSP00000248929:p.Ala234Thr		SGSM3_ENST00000454798.2_Missense_Mutation_p.A167T	p.A234T	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			8	889	+			234	Rab-GAP TBC.		Missense_Mutation	SNP	ENST00000248929.9	37	c.700G>A	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716676	0.30413	.	.	ENSG00000100359	ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798	T;T;T	0.11277	2.79;2.79;2.79	4.78	4.78	0.61160	4.78	4.78	0.61160	Rab-GAP/TBC domain (4);	0.114380	0.64402	D	0.000013	T	0.16171	0.0389	L	0.55834	1.745	0.46356	D	0.999005	P;P;P;B;B	0.46952	0.746;0.746;0.887;0.16;0.16	B;B;B;B;B	0.43658	0.426;0.426;0.3;0.106;0.106	T	0.01940	-1.1243	10	0.39692	T	0.17	.	18.1887	0.89800	0.0:0.0:1.0:0.0	.	171;167;234;234;234	B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1	.;.;.;.;SGSM3_HUMAN	T	167;234;177;167	ENSP00000399249:A167T;ENSP00000248929:A234T;ENSP00000390998:A167T	ENSP00000248929:A234T	A	+	1	0	0	SGSM3	39131680	39131680	1.000000	0.71417	0.995000	0.50966	0.419000	0.31324	6.923000	0.75817	2.401000	0.81631	0.313000	0.20887	GCC		0.647	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2		-23.810351	-24	-24	131	131	NM_015705		4	6.707913	6.707913	123	0.031496	0	0	0	1	0	4	123	0.031496	A	40801734	G	A	40801734	3	1	72	1	0	0	0	0	1	0	0	0	14224	1087	38	1	726	1	SGSM3	22	40801734	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08	10140681	40801734	10502832	21	1366											
DR1	1810	broad.mit.edu	37	1	93812222	93812222	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr1:93812222A>G	ENST00000370272.4	+	1	778	c.20A>G	c.(19-21)aAc>aGc	p.N7S	RP4-717I23.3_ENST00000413606.1_RNA|DR1_ENST00000370267.1_Missense_Mutation_p.N7S|RP4-717I23.3_ENST00000451302.2_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	7					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		TCGTCTGGCAACGATGATGAT	0.502																																						ENST00000370272.4											0			endometrium(3)|large_intestine(1)	4						c.(19-21)aAc>aGc	down-regulator of transcription 1, TBP-binding (negative cofactor 2)						75	79	78					1																	93812222		2203	4300	6503	SO:0001583	missense	1810			histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity	g.chr1:93812222A>G	M97388	M97388	CCDS744.1	CCDS744.1	1p22.1	2008-02-05			2008-02-05			ENSG00000117505	ENSG00000117505	ENSG00000117505	ENSG00000117505				3017	3017	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601482	601482						1339312, 9040789	1339312, 9040789	Standard	Standard	NM_001938	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	uc001dpu.3	Q01658	Q01658	OTTHUMG00000010862	OTTHUMG00000010862	ENST00000370272.4:c.20A>G	1.37:g.93812222A>G	ENSP00000359295:p.Asn7Ser		DR1_ENST00000370267.1_Missense_Mutation_p.N7S	p.N7S	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)	1	778	+		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)				Missense_Mutation	SNP	ENST00000370272.4	37	c.20A>G	CCDS744.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811357	0.32053	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.29917	1.55;1.55	5.76	4.64	0.57946	5.76	4.64	0.57946	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.10809	0.05	0.53688	D	0.999975	B	0.29627	0.252	B	0.25405	0.06	T	0.17048	-1.0382	10	0.25751	T	0.34	-9.8939	11.6549	0.51313	0.9311:0.0:0.0689:0.0	.	7	Q01658	NC2B_HUMAN	S	7	ENSP00000359295:N7S;ENSP00000359290:N7S	ENSP00000359290:N7S	N	+	2	0	0	DR1	93584810	93584810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.053000	0.76641	1.014000	0.39417	-0.250000	0.11733	AAC		0.502	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029976.2		175.876995	-29	-29	113	113	NM_001938		53	175.876995	175.876995	53	0.5	0	0	0	1	0	53	53	0.5	G	93812222	A	G	93812222	3	3	73	1	0	0	0	0	1	0	0	0	4752	43	2	4	22	4	DR1	1	93812222	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		93812222	155438399	1	1367											
GPR25	2848	broad.mit.edu	37	1	200842836	200842836	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr1:200842836G>A	ENST00000304244.2	+	1	754	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	224					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TGCTACTGCCGCATCTCGCGC	0.687																																						ENST00000304244.2											0			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(670-672)cGc>cAc	G protein-coupled receptor 25						23	26	25					1																	200842836		2186	4282	6468	SO:0001583	missense	2848				integral to plasma membrane		g.chr1:200842836G>A	U91939	U91939	CCDS1405.1	CCDS1405.1	1q32.1	2012-08-21			2012-08-21			ENSG00000170128	ENSG00000170128	ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	"GPCR / Class A : Orphans"	4480	4480	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602174	602174						9020062	9020062	Standard	Standard	NM_005298	NM_005298		Approved		uc001gvn.2	uc001gvn.2	O00155	O00155	OTTHUMG00000035788	OTTHUMG00000035788	ENST00000304244.2:c.671G>A	1.37:g.200842836G>A	ENSP00000301917:p.Arg224His			p.R224H	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	754	+			224		A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	c.671G>A	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747107	0.69418	.	.	ENSG00000170128	ENST00000304244	T	0.39056	1.1	4.52	2.3	0.28687	4.52	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.281727	0.18942	U	0.126908	T	0.49218	0.1544	L	0.48260	1.515	0.29588	N	0.848649	D	0.69078	0.997	D	0.63488	0.915	T	0.41662	-0.9496	10	0.49607	T	0.09	-5.7237	7.491	0.27462	0.0:0.1191:0.4687:0.4122	.	224	O00155	GPR25_HUMAN	H	224	ENSP00000301917:R224H	ENSP00000301917:R224H	R	+	2	0	0	GPR25	199109459	199109459	0.000000	0.05858	0.925000	0.36789	0.986000	0.74619	-0.708000	0.05035	0.776000	0.33473	0.462000	0.41574	CGC		0.687	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1		-5.917591	-1	-1	42	42	NM_005298		3	6.407626	6.407626	55	0.051724	0	0	0	1	0	3	55	0.051724	A	200842836	G	A	200842836	3	1	73	1	0	0	0	0	1	0	0	0	6683	1087	38	1	673	1	GPR25	1	200842836	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08	107030614	200842836	48407785	2	1368											
BAP1	51533	broad.mit.edu	37	3	52442547	52442579	+	5'Flank	DEL	CACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	CACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	-	rs199608453		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr3:52442547_52442579delCACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_In_Frame_Del_p.RRSRRKVSTLV56del|BAP1_ENST00000296288.5_In_Frame_Del_p.RRSRRKVSTLV56del	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.S63C(2)|p.R60*(1)|p.L65fs*7(1)|p.S58fs*14(1)|p.R60Q(1)|p.S58fs*8(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATC	0.506																																						ENST00000460680.1											7	Substitution - Missense(3)|Deletion - Frameshift(3)|Substitution - Nonsense(1)	eye(2)|pleura(2)|large_intestine(1)|skin(1)|kidney(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(166-198)cgccggtcccggcgaaaggtctctaccttggtgdel	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001631	upstream_gene_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52442547_52442579delCACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"Zinc fingers, PHD-type"		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3:g.52442547_52442579delCACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	Exception_encountered		PHF7_ENST00000347025.2_5'Flank|PHF7_ENST00000327906.3_5'Flank|BAP1_ENST00000296288.5_In_Frame_Del_p.RRSRRKVSTLV56del	p.RRSRRKVSTLV56del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	4	637_669	-			0	Interaction with HIP2.	K4DI82	In_Frame_Del	DEL	ENST00000327906.3		c.166_198delCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGTG	CCDS2854.1																																																																																									0.506	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	5.320000e+00	3.920000e+01	4	4	17	17	NM_016483		10			0	1						10	0	1	-	52442579	CACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	-	52442547	6	5	73	0	1	1	0	1	0	0	0	0	1311	581	21	0		0	BAP1	3	52442547	5'Flank	DEL	CACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	TCGA-WC-A88A-01A-11D-A39W-08		52442547	145579883	3	1369											
ROBO2	6092	broad.mit.edu	37	3	77542506	77542506	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr3:77542506A>G	ENST00000461745.1	+	5	1679	c.779A>G	c.(778-780)aAg>aGg	p.K260R	ROBO2_ENST00000332191.8_Missense_Mutation_p.K260R|ROBO2_ENST00000487694.3_Missense_Mutation_p.K276R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	260	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGTGGAAAAAGGATGATGCA	0.408																																						ENST00000461745.1											0			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(778-780)aAg>aGg	roundabout, axon guidance receptor, homolog 2 (Drosophila)						111	104	106					3																	77542506		1916	4151	6067	SO:0001583	missense	6092			apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77542506A>G	AF040991	AF040991	CCDS43109.1, CCDS54609.1	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008	ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	10250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602431	602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"		"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	9458045	Standard	Standard	NM_002942	NM_002942		Approved	KIAA1568	uc003dpy.4	uc003dpy.4	Q9HCK4	Q9HCK4	OTTHUMG00000158935	OTTHUMG00000158935	ENST00000461745.1:c.779A>G	3.37:g.77542506A>G	ENSP00000417164:p.Lys260Arg		ROBO2_ENST00000332191.8_Missense_Mutation_p.K260R|ROBO2_ENST00000487694.3_Missense_Mutation_p.K276R	p.K260R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	5	1679	+			260	Ig-like C2-type 3.	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.779A>G	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423889	0.83667	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.74421	-0.84;-0.84;-0.84	5.88	5.88	0.94601	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45867	U	0.000330	T	0.67524	0.2902	N	0.21508	0.67	0.41624	D	0.988983	B;P;B	0.37636	0.444;0.603;0.444	B;B;B	0.43018	0.405;0.283;0.405	T	0.69895	-0.5021	9	0.25106	T	0.35	.	16.2851	0.82714	1.0:0.0:0.0:0.0	.	276;260;260	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	R	276;276;276;260;260	ENSP00000417335:K276R;ENSP00000417164:K260R;ENSP00000327536:K260R	ENSP00000327536:K260R	K	+	2	0	0	ROBO2	77625196	77625196	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.271000	0.95698	2.252000	0.74401	0.402000	0.26972	AAG		0.408	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		-3.719012	-30	-30	38	38	XM_031246		3	6.952415	6.952415	49	0.057692	0	0	0	1	0	3	49	0.057692	G	77542506	A	G	77542506	3	3	73	1	0	0	0	0	1	0	0	0	13514	72	3	4	799	4	ROBO2	3	77542506	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08	25099959	77542506	120479924	4	1370											
COQ2	27235	ucsc.edu	37	4	84193246	84193246	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr4:84193246C>A	ENST00000311469.4	-	4	771	c.772G>T	c.(772-774)Gcc>Tcc	p.A258S	COQ2_ENST00000439031.2_Missense_Mutation_p.A221S|COQ2_ENST00000311461.7_Missense_Mutation_p.A208S|COQ2_ENST00000514935.1_5'Flank	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	208					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				TCACCCAAGGCTAGTTGAGGC	0.358																																																	0																	60	56	57					4																	84193246		1835	4084	5919	SO:0001583	missense	27235									CCDS47090.1, CCDS47090.2	CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23		2013-05-23	2013-05-23						2.5.1.39			25223	25223	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"4-hydroxybenzoate polyprenyltransferase"	"4-hydroxybenzoate polyprenyltransferase"	609825	609825	"coenzyme Q2 homolog, prenyltransferase (yeast)"		"coenzyme Q2 homolog, prenyltransferase (yeast)"			15153069, 17332895	15153069, 17332895	Standard	Standard	NM_015697	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	uc003hog.3	Q96H96	Q96H96			ENST00000311469.4:c.772G>T	4.37:g.84193246C>A	ENSP00000310873:p.Ala258Ser																	O95331|Q1JQ78|Q684R2	Missense_Mutation	SNP	ENST00000311469.4	37		CCDS47090.2	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114113	0.37339	.	.	ENSG00000173085	ENST00000311469;ENST00000439031;ENST00000311461	D;D;D	0.92199	-2.99;-2.99;-2.99	6.03	5.19	0.71726	6.03	5.19	0.71726	.	0.232989	0.43747	D	0.000527	D	0.89846	0.6833	L	0.38175	1.15	0.31691	N	0.641841	B;B	0.33857	0.163;0.429	B;B	0.41510	0.334;0.359	D	0.91121	0.4930	10	0.72032	D	0.01	-15.5969	12.3835	0.55320	0.3051:0.6949:0.0:0.0	.	208;208	E2QRG7;Q96H96	.;COQ2_HUMAN	S	258;221;208	ENSP00000310873:A258S;ENSP00000409275:A221S;ENSP00000311835:A208S	ENSP00000311835:A208S	A	-	1	0	0	COQ2	84412270	84412270	1.000000	0.71417	0.560000	0.28344	0.242000	0.25591	1.962000	0.40442	1.543000	0.49345	0.655000	0.94253	GCC		0.358	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3			11	11	27	27	NM_015697		4			21							4	21		A	84193246	C	A	84193246	3	1	73	1	0	0	0	0	1	0	0	0	3745	797	28	5	509	5	COQ2	4	84193246	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		84193246	106961030	5	1371											
C1QTNF3	114899	ucsc.edu	37	5	34035760	34035760	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr5:34035760C>T	ENST00000231338.7	-	2	275	c.188G>A	c.(187-189)gGc>gAc	p.G63D	RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.G47D|C1QTNF3_ENST00000513065.1_5'Flank|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.G136D	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	63	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					ACCTGGAATGCCAGGAGGGCC	0.522																																																	0																	39	42	41					5																	34035760		2203	4299	6502	SO:0001583	missense	114899							AF329837		CCDS3904.1, CCDS34141.1		5p13	2009-05-20						ENSG00000082196	ENSG00000082196						14326		protein-coding gene	gene with protein product			"cartonectin"		612045							18421280		Standard		NM_030945			Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3		Q9BXJ4		OTTHUMG00000090735		ENST00000231338.7:c.188G>A	5.37:g.34035760C>T	ENSP00000231338:p.Gly63Asp																	Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Missense_Mutation	SNP	ENST00000231338.7	37		CCDS3904.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096217	0.94197	.	.	ENSG00000082196	ENST00000382065;ENST00000231338	D;D	0.99353	-4.45;-5.77	5.91	5.91	0.95273	5.91	5.91	0.95273	.	.	.	.	.	D	0.99632	0.9865	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98041	1.0382	9	0.87932	D	0	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	136;63	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	D	136;63	ENSP00000371497:G136D;ENSP00000231338:G63D	ENSP00000231338:G63D	G	-	2	0	0	C1QTNF3	34071517	34071517	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.256000	0.65468	2.802000	0.96397	0.655000	0.94253	GGC		0.522	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1			-7	-7	35	35	NM_030945		4			32							4	32		T	34035760	C	T	34035760	3	4	73	1	0	0	0	0	1	0	0	0	1964	739	26	2	572	2	C1QTNF3	5	34035760	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		34035760	146879500	6	1372											
ZSCAN16	80345	broad.mit.edu	37	6	28097340	28097340	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr6:28097340T>C	ENST00000340487.4	+	4	808	c.659T>C	c.(658-660)aTt>aCt	p.I220T	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	220					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)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAAGATATTATTGAAAATGAG	0.393																																						ENST00000340487.4											0			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(658-660)aTt>aCt	zinc finger and SCAN domain containing 16						105	113	111					6																	28097340		2203	4300	6503	SO:0001583	missense	80345			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28097340T>C	AK025844	AK025844	CCDS4644.1	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812	ENSG00000196812	ENSG00000196812		"-", "Zinc fingers, C2H2-type"	"-", "Zinc fingers, C2H2-type"	20813	20813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435	"zinc finger protein 392", "zinc finger protein 435"	ZNF392, ZNF435				Standard	Standard	NM_025231	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	uc003nkm.3	Q9H4T2	Q9H4T2	OTTHUMG00000014509	OTTHUMG00000014509	ENST00000340487.4:c.659T>C	6.37:g.28097340T>C	ENSP00000366527:p.Ile220Thr		ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	p.I220T	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN			4	808	+			220		Q9H6K2	Missense_Mutation	SNP	ENST00000340487.4	37	c.659T>C	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	T	5.519	0.280633	0.10458	.	.	ENSG00000196812	ENST00000340487	T	0.05139	3.49	4.47	-7.48	0.01360	4.47	-7.48	0.01360	.	3.303230	0.01195	N	0.007427	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44345	-0.9334	10	0.20046	T	0.44	.	2.683	0.05100	0.2441:0.4299:0.1243:0.2017	.	220	Q9H4T2	ZSC16_HUMAN	T	220	ENSP00000366527:I220T	ENSP00000366527:I220T	I	+	2	0	0	ZSCAN16	28205319	28205319	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.713000	0.00816	-1.112000	0.02984	0.443000	0.29094	ATT		0.393	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1		189.142633	-18	-18	43	43	NM_025231		55	189.821893	189.821893	38	0.591398	0	0	0	1	0	55	38	0.591398	C	28097340	T	C	28097340	3	2	73	1	0	0	0	0	1	0	0	0	18226	1493	52	4	669	4	ZSCAN16	6	28097340	Missense_Mutation	SNP	T	TCGA-WC-A88A-01A-11D-A39W-08		28097340	143017727	7	1373											
USP49	25862	broad.mit.edu	37	6	41773545	41773545	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr6:41773545G>A	ENST00000394253.3	-	3	1506	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	USP49_ENST00000373009.3_Missense_Mutation_p.R393C|USP49_ENST00000373010.1_Missense_Mutation_p.R393C|USP49_ENST00000297229.2_Missense_Mutation_p.R393C|USP49_ENST00000373006.1_Missense_Mutation_p.R393C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	393	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCGTAGCCGCGGAAGGCAGGG	0.612																																						ENST00000394253.3											0			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(1177-1179)Cgc>Tgc	ubiquitin specific peptidase 49						56	52	53					6																	41773545		2203	4300	6503	SO:0001583	missense	25862			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773545G>A	AJ586139	AJ586139	CCDS4861.1, CCDS69111.1	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663	ENSG00000164663	ENSG00000164663		"Ubiquitin-specific peptidases"	"Ubiquitin-specific peptidases"	20078	20078	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"ubiquitin specific protease 49"		"ubiquitin specific protease 49"			14715245	14715245	Standard	Standard	NM_018561	NM_018561		Approved	MGC20741	uc003ori.3	uc003ori.3	Q70CQ1	Q70CQ1	OTTHUMG00000014688	OTTHUMG00000014688	ENST00000394253.3:c.1177C>T	6.37:g.41773545G>A	ENSP00000377797:p.Arg393Cys		USP49_ENST00000373010.1_Missense_Mutation_p.R393C|USP49_ENST00000373009.3_Missense_Mutation_p.R393C|USP49_ENST00000297229.2_Missense_Mutation_p.R393C|USP49_ENST00000373006.1_Missense_Mutation_p.R393C	p.R393C			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1506	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		393		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1177C>T		.	.	.	.	.	.	.	.	.	.	G	21.9	4.219357	0.79464	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68398	-0.5419	10	0.87932	D	0	-11.4993	19.2213	0.93797	0.0:0.0:1.0:0.0	.	393	Q70CQ1-2	.	C	393	ENSP00000377797:R393C;ENSP00000362101:R393C;ENSP00000362100:R393C;ENSP00000362097:R393C;ENSP00000297229:R393C	ENSP00000297229:R393C	R	-	1	0	0	USP49	41881523	41881523	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.657000	0.67996	2.631000	0.89168	0.655000	0.94253	CGC		0.612	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3		-5.414067	9	9	44	44	NM_018561		3	6.354609	6.354609	53	0.053571	0	0	0	1	0	3	53	0.053571	A	41773545	G	A	41773545	3	1	73	1	0	0	0	0	1	0	0	0	17077	1116	39	1	761	1	USP49	6	41773545	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08	13676205	41773545	129341522	8	1374											
ADAM22	53616	broad.mit.edu	37	7	87792407	87792407	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr7:87792407G>A	ENST00000265727.7	+	23	2067	c.1988G>A	c.(1987-1989)tGc>tAc	p.C663Y	ADAM22_ENST00000398201.4_Missense_Mutation_p.C663Y|ADAM22_ENST00000398209.3_Missense_Mutation_p.C663Y|ADAM22_ENST00000398204.4_Missense_Mutation_p.C663Y|ADAM22_ENST00000315984.7_Missense_Mutation_p.C663Y			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	663	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAAATGATGTGCTTAGAACAC	0.428																																						ENST00000398204.4											0			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(1987-1989)tGc>tAc	ADAM metallopeptidase domain 22						183	165	171					7																	87792407		1871	4109	5980	SO:0001583	missense	53616			cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87792407G>A	AB009671	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277	ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	"ADAM metallopeptidase domain containing"	201	201	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	603709	"a disintegrin and metalloproteinase domain 22"		"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	9693107, 10524237	Standard	Standard	NM_021723	NM_021723		Approved	MDC2	uc003ujn.3	uc003ujn.3	Q9P0K1	Q9P0K1	OTTHUMG00000137417	OTTHUMG00000137417	ENST00000265727.7:c.1988G>A	7.37:g.87792407G>A	ENSP00000265727:p.Cys663Tyr		ADAM22_ENST00000398209.3_Missense_Mutation_p.C663Y|ADAM22_ENST00000265727.7_Missense_Mutation_p.C663Y|ADAM22_ENST00000398201.4_Missense_Mutation_p.C663Y|ADAM22_ENST00000315984.7_Missense_Mutation_p.C663Y	p.C663Y	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	2311	+	Esophageal squamous(14;0.00202)		663	Cys-rich.	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.1988G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699096	0.88830	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.72505	2.63;2.7;2.74;2.93;2.88;2.79;-0.66	5.84	5.84	0.93424	5.84	5.84	0.93424	ADAM, cysteine-rich (1);	0.000000	0.85682	D	0.000000	D	0.88474	0.6446	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.998;1.0	D	0.90463	0.4447	10	0.87932	D	0	.	18.9075	0.92469	0.0:0.0:1.0:0.0	.	715;663;663;663	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Y	663;663;663;663;663;630;21	ENSP00000381262:C663Y;ENSP00000381260:C663Y;ENSP00000265727:C663Y;ENSP00000315900:C663Y;ENSP00000381267:C663Y;ENSP00000381261:C630Y;ENSP00000396233:C21Y	ENSP00000265727:C663Y	C	+	2	0	0	ADAM22	87630343	87630343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.482000	0.97935	2.756000	0.94617	0.655000	0.94253	TGC		0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		-26.359306	-7	-7	69	69	NM_021723		5	8.70834	8.70834	143	0.033784	0	0	0	1	0	5	143	0.033784	A	87792407	G	A	87792407	3	1	73	1	0	0	0	0	1	0	0	0	244	1319	46	2	2078	2	ADAM22	7	87792407	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08		87792407	71346256	9	1375											
GAL3ST4	79690	broad.mit.edu	37	7	99758431	99758431	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr7:99758431C>T	ENST00000360039.4	-	4	973	c.581G>A	c.(580-582)gGc>gAc	p.G194D	GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.G194D|C7orf43_ENST00000316937.3_5'Flank|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.G132D	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	194					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTGTAGAAGCCTCGAGGATT	0.587																																						ENST00000360039.4											0			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(580-582)gGc>gAc	galactose-3-O-sulfotransferase 4						55	56	56					7																	99758431		2203	4300	6503	SO:0001583	missense	79690			cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758431C>T	AF316113	AF316113	CCDS5688.1	CCDS5688.1	7q22.1	2007-04-02			2007-04-02			ENSG00000197093	ENSG00000197093	ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	"Sulfotransferases, membrane-bound"	24145	24145	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608235	608235						11333265	11333265	Standard	Standard	NM_024637	NM_024637		Approved	FLJ12116	uc003utu.3	uc003utu.3	Q96RP7	Q96RP7	OTTHUMG00000154885	OTTHUMG00000154885	ENST00000360039.4:c.581G>A	7.37:g.99758431C>T	ENSP00000353142:p.Gly194Asp		GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A93T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.G194D|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.G132D	p.G194D	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	973	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		194		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.581G>A	CCDS5688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.792|7.792	0.711872|0.711872	0.15306|0.15306	.|.	.|.	ENSG00000197093|ENSG00000197093	ENST00000423751;ENST00000411994|ENST00000413800;ENST00000360039;ENST00000426974	.|D;D;D	.|0.99698	.|-6.44;-6.44;-6.44	4.82|4.82	3.95|3.95	0.45737|0.45737	4.82|4.82	3.95|3.95	0.45737|0.45737	.|.	.|0.684008	.|0.13797	.|U	.|0.362088	D|D	0.97832|0.97832	0.9288|0.9288	N|N	0.08118|0.08118	0|0	0.23023|0.23023	N|N	0.998412|0.998412	.|P;B	.|0.43701	.|0.815;0.055	.|P;B	.|0.46049	.|0.502;0.055	D|D	0.97380|0.97380	0.9982|0.9982	6|10	0.87932|0.15952	D|T	0|0.53	-4.4769|-4.4769	8.2281|8.2281	0.31582|0.31582	0.0:0.1732:0.6491:0.1777|0.0:0.1732:0.6491:0.1777	.|.	.|132;194	.|B4DWL8;Q96RP7	.|.;G3ST4_HUMAN	T|D	93|194;194;132	.|ENSP00000400451:G194D;ENSP00000353142:G194D;ENSP00000398304:G132D	ENSP00000414733:A93T|ENSP00000353142:G194D	A|G	-|-	1|2	0|0	0|0	GAL3ST4|GAL3ST4	99596367|99596367	99596367|99596367	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	0.141000|0.141000	0.16076|0.16076	1.276000|1.276000	0.44395|0.44395	-0.299000|-0.299000	0.09455|0.09455	GCT|GGC		0.587	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2		77.442588	-10	-10	53	53	NM_024637		29	79.710304	79.710304	59	0.329545	0	0	0	1	0	29	59	0.329545	T	99758431	C	T	99758431	3	4	73	1	0	0	0	0	1	0	0	0	6200	739	26	2	883	2	GAL3ST4	7	99758431	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08	11966024	99758431	59380232	10	1376											
SVEP1	79987	broad.mit.edu	37	9	113265410	113265410	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr9:113265410A>G	ENST00000401783.2	-	6	1727	c.1391T>C	c.(1390-1392)gTt>gCt	p.V464A	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.V441A|SVEP1_ENST00000374461.1_Missense_Mutation_p.V441A|SVEP1_ENST00000302728.8_Missense_Mutation_p.V464A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	464	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCACAGGCAACCAAACATGT	0.458																																						ENST00000401783.2											0			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1390-1392)gTt>gCt	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1						162	160	161					9																	113265410		1980	4156	6136	SO:0001583	missense	79987			cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113265410A>G	AK027870	AK027870			9q31-q32	2008-02-05	2005-03-15	2005-03-17	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124	ENSG00000165124	ENSG00000165124				15985	15985	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611691	611691	"chromosome 9 open reading frame 13"	C9orf13	"chromosome 9 open reading frame 13"	C9orf13				Standard	Standard	NM_153366	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	uc010mtz.3	Q4LDE5	Q4LDE5	OTTHUMG00000020482	OTTHUMG00000020482	ENST00000401783.2:c.1391T>C	9.37:g.113265410A>G	ENSP00000384917:p.Val464Ala		SVEP1_ENST00000374461.1_Missense_Mutation_p.V441A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.V464A|SVEP1_ENST00000374469.1_Missense_Mutation_p.V441A	p.V464A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			6	1727	-			464	Sushi 2.	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1391T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585590	0.28268	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.71	5.71	0.89125	5.71	5.71	0.89125	Complement control module (2);Sushi/SCR/CCP (3);	0.125819	0.53938	D	0.000060	T	0.58206	0.2106	M	0.73319	2.225	0.34205	D	0.673659	B;B;B	0.32409	0.37;0.053;0.319	B;B;B	0.30316	0.114;0.029;0.069	T	0.68006	-0.5523	10	0.31617	T	0.26	.	10.3411	0.43879	0.9271:0.0:0.0729:0.0	.	464;464;464	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	A	464;441;464;441	ENSP00000384917:V464A;ENSP00000363593:V441A;ENSP00000304118:V464A;ENSP00000363585:V441A	ENSP00000304118:V464A	V	-	2	0	0	SVEP1	112305231	112305231	1.000000	0.71417	0.583000	0.28640	0.202000	0.24057	3.282000	0.51693	2.171000	0.68590	0.533000	0.62120	GTT		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			138.948973	-28	-28	61	61			42	138.971328	138.971328	45	0.482759	0	0	0	1	0	42	45	0.482759	G	113265410	A	G	113265410	3	3	73	1	0	0	0	0	1	0	0	0	15417	43	2	4	9496	4	SVEP1	9	113265410	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		113265410	27948021	11	1377											
PSD	5662	broad.mit.edu	37	10	104176472	104176472	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr10:104176472C>A	ENST00000020673.5	-	2	850	c.324G>T	c.(322-324)aaG>aaT	p.K108N	PSD_ENST00000406432.1_Missense_Mutation_p.K108N|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	108	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCACACTGGCCTTCTCCACAA	0.662																																						ENST00000020673.5											0			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(322-324)aaG>aaT	pleckstrin and Sec7 domain containing						33	39	37					10																	104176472		2202	4299	6501	SO:0001583	missense	5662			regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176472C>A	X99688	X99688	CCDS31272.1, CCDS73187.1	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915	ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	9507	9507	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602327	602327	"pleckstrin and Sec7 domain protein"		"pleckstrin and Sec7 domain protein"			9417912	9417912	Standard	Standard	NM_002779	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	uc009xxd.2	A5PKW4	A5PKW4	OTTHUMG00000018954	OTTHUMG00000018954	ENST00000020673.5:c.324G>T	10.37:g.104176472C>A	ENSP00000020673:p.Lys108Asn		PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.K108N	p.K108N	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	850	-			108	Pro-rich.	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.324G>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695155	0.48202	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.26660	1.72;1.72	5.08	4.18	0.49190	5.08	4.18	0.49190	.	0.077607	0.49916	D	0.000139	T	0.27629	0.0679	N	0.08118	0	0.31762	N	0.63321	D	0.71674	0.998	D	0.78314	0.991	T	0.28839	-1.0031	10	0.59425	D	0.04	.	9.5954	0.39571	0.0:0.8383:0.0:0.1617	.	108	A5PKW4	PSD1_HUMAN	N	108	ENSP00000020673:K108N;ENSP00000384830:K108N	ENSP00000020673:K108N	K	-	3	2	2	PSD	104166462	104166462	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.467000	0.45093	1.153000	0.42468	-0.258000	0.10820	AAG		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2		-5.122257	-17	-17	55	55			3	6.37811	6.37811	52	0.054545	1	0	2.56e-06	1	2.88e-06	3	52	0.054545	A	104176472	C	A	104176472	3	1	73	1	0	0	0	0	1	0	0	0	12646	680	24	5	2814	5	PSD	10	104176472	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		104176472	31358275	12	1378											
PRDM11	56981	broad.mit.edu	37	11	45204514	45204514	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr11:45204514C>G	ENST00000530656.1	+	4	428	c.428C>G	c.(427-429)gCg>gGg	p.A143G	PRDM11_ENST00000424263.2_Missense_Mutation_p.A109G|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000263765.4_Missense_Mutation_p.A143G			Q9NQV5	PRD11_HUMAN	PR domain containing 11	143							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGACCGGGCGGCGCTCACC	0.602																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4											0			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(427-429)gCg>gGg	PR domain containing 11						71	70	70					11																	45204514		2203	4299	6502	SO:0001583	missense	56981						g.chr11:45204514C>G	AF275818	AF275818	CCDS58130.1, CCDS73277.1	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			2008-07-21			ENSG00000019485	ENSG00000019485	ENSG00000019485	ENSG00000019485				13996	13996	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"PR-domain containing protein 11"	"PR-domain containing protein 11"										Standard	Standard	NM_001256695	NM_001256695		Approved	PFM8	uc031qab.1	uc031qab.1	Q9NQV5	Q9NQV5	OTTHUMG00000166478	OTTHUMG00000166478	ENST00000530656.1:c.428C>G	11.37:g.45204514C>G	ENSP00000435976:p.Ala143Gly		PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.A109G|PRDM11_ENST00000530656.1_Missense_Mutation_p.A143G	p.A143G			Q9NQV5	PRD11_HUMAN			5	677	+			143		Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.428C>G		.	.	.	.	.	.	.	.	.	.	C	25.6	4.658334	0.88154	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000009	T	0.75554	0.3865	M	0.82716	2.605	0.53005	D	0.999969	D	0.76494	0.999	D	0.73708	0.981	T	0.80044	-0.1547	10	0.87932	D	0	-26.7203	18.5796	0.91166	0.0:1.0:0.0:0.0	.	143	Q9NQV5	PRD11_HUMAN	G	143;143;109;109	ENSP00000263765:A143G;ENSP00000435976:A143G;ENSP00000431898:A109G;ENSP00000394314:A109G	ENSP00000263765:A143G	A	+	2	0	0	PRDM11	45161090	45161090	1.000000	0.71417	0.979000	0.43373	0.858000	0.48976	6.883000	0.75595	2.388000	0.81334	0.484000	0.47621	GCG		0.602	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1		83.821024	-23	-23	30	30	NM_020229		27	83.912931	83.912931	32	0.457627	0	0	0	1	0	27	32	0.457627	G	45204514	C	G	45204514	3	3	73	1	0	0	0	0	1	0	0	0	12452	768	27	5	442	5	PRDM11	11	45204514	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		45204514	89802002	13	1379											
SCARB1	949	broad.mit.edu	37	12	125298848	125298848	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr12:125298848C>T	ENST00000415380.2	-	4	655	c.530G>A	c.(529-531)gGt>gAt	p.G177D	SCARB1_ENST00000544327.1_Missense_Mutation_p.G123D|SCARB1_ENST00000376788.1_Missense_Mutation_p.G77D|SCARB1_ENST00000546215.1_Missense_Mutation_p.G177D|SCARB1_ENST00000541205.1_Missense_Mutation_p.G136D|SCARB1_ENST00000261693.6_Missense_Mutation_p.G177D|SCARB1_ENST00000540495.1_Missense_Mutation_p.G140D|SCARB1_ENST00000339570.5_Missense_Mutation_p.G177D|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	177					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CATGATCTCACCCACAGTGCG	0.522																																						ENST00000339570.5											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(529-531)gGt>gAt	scavenger receptor class B, member 1						159	133	142					12																	125298848		2203	4300	6503	SO:0001583	missense	949			adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125298848C>T	Z22555	Z22555	CCDS9259.1, CCDS45008.1	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060	ENSG00000073060	ENSG00000073060				1664	1664	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601040	601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	7689561	Standard	Standard	NM_001082959	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	uc001ugm.4	Q8WTV0	Q8WTV0	OTTHUMG00000168544	OTTHUMG00000168544	ENST00000415380.2:c.530G>A	12.37:g.125298848C>T	ENSP00000414979:p.Gly177Asp		SCARB1_ENST00000546215.1_Missense_Mutation_p.G177D|SCARB1_ENST00000415380.2_Missense_Mutation_p.G177D|SCARB1_ENST00000261693.6_Missense_Mutation_p.G177D|SCARB1_ENST00000376788.1_Missense_Mutation_p.G77D|SCARB1_ENST00000540495.1_Missense_Mutation_p.G140D|SCARB1_ENST00000541205.1_Missense_Mutation_p.G136D|SCARB1_ENST00000544327.1_Missense_Mutation_p.G123D|SCARB1_ENST00000535005.1_5'UTR	p.G177D	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	4	726	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		177		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.530G>A		.	.	.	.	.	.	.	.	.	.	C	2.713	-0.268399	0.05716	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.25	2.32	0.28847	5.25	2.32	0.28847	.	0.326617	0.36932	N	0.002321	T	0.62684	0.2448	L	0.53249	1.67	0.26757	N	0.970079	B;B;B;B;B;B	0.30563	0.089;0.026;0.285;0.285;0.146;0.088	B;B;B;B;B;B	0.38880	0.132;0.093;0.284;0.284;0.128;0.052	T	0.50004	-0.8878	10	0.09084	T	0.74	-16.9015	7.61	0.28124	0.0:0.4624:0.3998:0.1378	.	136;177;177;177;177;177	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	D	177;177;177;77;177;136;123;140	ENSP00000343795:G177D;ENSP00000414979:G177D;ENSP00000261693:G177D;ENSP00000365984:G77D;ENSP00000442862:G177D;ENSP00000446107:G136D;ENSP00000444851:G123D;ENSP00000443286:G140D	ENSP00000261693:G177D	G	-	2	0	0	SCARB1	123864801	123864801	0.025000	0.19082	0.009000	0.14445	0.035000	0.12851	1.869000	0.39519	0.189000	0.20188	-0.304000	0.09214	GGT		0.522	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1		-2.674349	-18	-18	34	34	NM_005505		5	10.303759	10.303759	64	0.072464	0	0	0	1	0	5	64	0.072464	T	125298848	C	T	125298848	3	4	73	1	0	0	0	0	1	0	0	0	13881	507	18	3	1159	3	SCARB1	12	125298848	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		125298848	8553047	14	1380											
NOC4L	79050	broad.mit.edu	37	12	132633397	132633397	+	Missense_Mutation	SNP	G	G	T	rs529616528	byFrequency	TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr12:132633397G>T	ENST00000330579.1	+	9	899	c.858G>T	c.(856-858)caG>caT	p.Q286H	NOC4L_ENST00000535343.1_3'UTR|NOC4L_ENST00000538784.1_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	286					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AGCTGGCGCAGCCCACGCTCA	0.692																																						ENST00000330579.1											0			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(856-858)caG>caT	nucleolar complex associated 4 homolog (S. cerevisiae)						29	25	26					12																	132633397		2191	4288	6479	SO:0001583	missense	79050			rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132633397G>T			CCDS9277.1	CCDS9277.1	12q24.33	2011-08-12			2011-08-12			ENSG00000184967	ENSG00000184967	ENSG00000184967	ENSG00000184967				28461	28461	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612819	612819						12446671	12446671	Standard	Standard	NM_024078	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	uc001ujz.1	Q9BVI4	Q9BVI4	OTTHUMG00000168260	OTTHUMG00000168260	ENST00000330579.1:c.858G>T	12.37:g.132633397G>T	ENSP00000328854:p.Gln286His		NOC4L_ENST00000535343.1_3'UTR	p.Q286H	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	9	899	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		286		Q8N2S5|Q96I14	Missense_Mutation	SNP	ENST00000330579.1	37	c.858G>T	CCDS9277.1	.	.	.	.	.	.	.	.	.	.	g	9.673	1.147215	0.21288	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.34275	1.37;1.37	5.44	-0.424	0.12321	5.44	-0.424	0.12321	.	0.341523	0.32218	N	0.006404	T	0.32224	0.0822	M	0.71581	2.175	0.80722	D	1	B	0.25441	0.126	B	0.27380	0.079	T	0.08513	-1.0718	10	0.59425	D	0.04	-32.1374	5.6594	0.17660	0.4295:0.1315:0.439:0.0	.	286	Q9BVI4	NOC4L_HUMAN	H	286;253	ENSP00000328854:Q286H;ENSP00000438255:Q253H	ENSP00000328854:Q286H	Q	+	3	2	2	NOC4L	131199350	131199350	0.997000	0.39634	0.985000	0.45067	0.006000	0.05464	0.427000	0.21379	-0.116000	0.11893	-0.330000	0.08379	CAG		0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1		8.123757	6	6	26	26	NM_024078		3	8.47962	8.47962	7	0.3	1	0	2.56e-06	1	2.88e-06	3	7	0.3	T	132633397	G	T	132633397	3	4	73	1	0	0	0	0	1	0	0	0	10515	962	34	5	892	5	NOC4L	12	132633397	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08	7334549	132633397	1218498	15	1381											
PLCB2	5330	broad.mit.edu	37	15	40591139	40591139	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:40591139G>A	ENST00000260402.3	-	9	959	c.710C>T	c.(709-711)aCg>aTg	p.T237M	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.T237M|PLCB2_ENST00000456256.2_Missense_Mutation_p.T237M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	237					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GTGCTCCTTCGTCATGTAGGG	0.577																																						ENST00000260402.3											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(709-711)aCg>aTg	phospholipase C, beta 2						93	97	96					15																	40591139		2031	4183	6214	SO:0001583	missense	5330			activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40591139G>A			CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			2012-01-23			ENSG00000137841	ENSG00000137841	ENSG00000137841	ENSG00000137841	3.1.4.11			9055	9055	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604114	604114						1644792, 9925923	1644792, 9925923	Standard	Standard	XM_005254448	XM_005254448		Approved	FLJ38135	uc001zld.3	uc001zld.3	Q00722	Q00722	OTTHUMG00000172412	OTTHUMG00000172412	ENST00000260402.3:c.710C>T	15.37:g.40591139G>A	ENSP00000260402:p.Thr237Met		PLCB2_ENST00000456256.2_Missense_Mutation_p.T237M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T237M	p.T237M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	9	959	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	237		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.710C>T	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624573	0.66901	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.54279	0.58;0.58	3.96	3.96	0.45880	3.96	3.96	0.45880	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	M	0.80982	2.52	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.994	P;P;P	0.58172	0.824;0.777;0.834	T	0.77281	-0.2646	10	0.87932	D	0	.	16.5705	0.84611	0.0:0.0:1.0:0.0	.	237;237;237	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	M	237	ENSP00000260402:T237M;ENSP00000411991:T237M	ENSP00000260402:T237M	T	-	2	0	0	PLCB2	38378431	38378431	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.679000	0.84048	2.198000	0.70561	0.561000	0.74099	ACG		0.577	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		119.342937	-16	-16	90	90			38	119.47124	119.47124	45	0.457831	0	0	0	1	0	38	45	0.457831	A	40591139	G	A	40591139	3	1	73	1	0	0	0	0	1	0	0	0	12028	1145	40	1	2943	1	PLCB2	15	40591139	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08		40591139	61940253	16	1382											
CPEB1	64506	broad.mit.edu	37	15	83218265	83218265	+	Silent	SNP	T	T	C	rs368407272		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:83218265T>C	ENST00000562019.1	-	9	1675	c.1359A>G	c.(1357-1359)ctA>ctG	p.L453L	RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.Y183C|CPEB1_ENST00000568128.1_Silent_p.L448L|CPEB1_ENST00000450751.2_Silent_p.L373L|CPEB1_ENST00000563800.1_Silent_p.L475L|CPEB1_ENST00000398592.2_Silent_p.L222L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Silent_p.L373L|CPEB1_ENST00000261723.6_Silent_p.L451L|CPEB1_ENST00000423133.2_Silent_p.L373L|CPEB1_ENST00000398591.2_Silent_p.L378L|CPEB1_ENST00000564522.1_Silent_p.L373L			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	453	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTCCACCAAATAGGTCGTTCA	0.547													T|||	1	0.000199681	8e-04	0	5008	,	,		21542	0		0	False		,,,				2504	0					ENST00000562833.1											0										c.(547-549)tAt>tGt		T	,,,	0,4074		0,0,2037	83	82	83		1134,1119,1119,1344	-7.9	1	15		83	1,8359		0,1,4179	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CPEB1	NM_001079533.1,NM_001079534.1,NM_001079535.1,NM_030594.3	,,,	0,1,6216	CC,CT,TT		0.012,0.0,0.0080	,,,	378/492,373/487,373/487,448/562	83218265	1,12433	2037	4180	6217	SO:0001819	synonymous_variant	0						g.chr15:83218265T>C	AF329402		CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2		15q25.1	2008-02-05							ENSG00000214575						21744		protein-coding gene	gene with protein product					607342							11223249		Standard		NM_001079533			Approved	FLJ13203, CPEB	uc002biv.3		Q9BZB8				ENST00000562019.1:c.1359A>G	15.37:g.83218265T>C			CPEB1_ENST00000568128.1_Silent_p.L448L|CPEB1_ENST00000450751.2_Silent_p.L373L|CPEB1_ENST00000562019.1_Silent_p.L453L|CPEB1_ENST00000563800.1_Silent_p.L475L|CPEB1_ENST00000261723.6_Silent_p.L451L|CPEB1_ENST00000398591.2_Silent_p.L378L|CPEB1_ENST00000564522.1_Silent_p.L373L|CPEB1_ENST00000398592.2_Silent_p.L222L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000423133.2_Silent_p.L373L|CPEB1_ENST00000568757.1_Silent_p.L373L	p.Y183C							5	547	-					B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.548A>G																																																																																										0.547	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1		52.261299	-11	-11	44	44	NM_030594		17	53.392024	53.392024	33	0.34	0	0	0	1	0	17	33	0.34	C	83218265	T	C	83218265	2	2	73	1	0	0	0	0	0	0	0	1	3800	1393	49	4		4	CPEB1	15	83218265	Silent	SNP	T	TCGA-WC-A88A-01A-11D-A39W-08	42627126	83218265	19313127	17	1383											
BNC1	646	broad.mit.edu	37	15	83936923	83936923	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr15:83936923C>T	ENST00000345382.2	-	2	246	c.161G>A	c.(160-162)cGt>cAt	p.R54H	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R47H	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	54					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTCACACTGACGGTGGTTTAT	0.438																																						ENST00000345382.2											0			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(160-162)cGt>cAt	basonuclin 1						124	122	122					15																	83936923		2203	4300	6503	SO:0001583	missense	646			epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83936923C>T	L03427	L03427	CCDS10324.1, CCDS73771.1	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	1081	1081	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601930	601930	"basonuclin"	BNC	"basonuclin"	BNC		1332044	1332044	Standard	Standard	NM_001717	NM_001717		Approved	HsT19447	uc002bjt.1	uc002bjt.1	Q01954	Q01954	OTTHUMG00000147362	OTTHUMG00000147362	ENST00000345382.2:c.161G>A	15.37:g.83936923C>T	ENSP00000307041:p.Arg54His		BNC1_ENST00000569704.1_Missense_Mutation_p.R47H|RP11-382A20.4_ENST00000565495.1_RNA	p.R54H	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			2	246	-			54		Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.161G>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407197	0.96051	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.04809	3.55	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00161	-1.1972	10	0.87932	D	0	-21.1094	18.8361	0.92164	0.0:1.0:0.0:0.0	.	47;54	F5GY04;Q01954	.;BNC1_HUMAN	H	54;47	ENSP00000307041:R54H	ENSP00000307041:R54H	R	-	2	0	0	BNC1	81727927	81727927	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.380000	0.79704	2.670000	0.90874	0.591000	0.81541	CGT		0.438	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1		101.602007	5	5	69	69	NM_001717		32	101.605506	101.605506	31	0.507937	0	0	0	1	0	32	31	0.507937	T	83936923	C	T	83936923	3	4	73	1	0	0	0	0	1	0	0	0	1474	536	19	1	2839	1	BNC1	15	83936923	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08	718658	83936923	18594469	18	1384											
NUFIP2	57532	broad.mit.edu	37	17	27620994	27620994	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr17:27620994C>G	ENST00000225388.4	-	1	142	c.84G>C	c.(82-84)caG>caC	p.Q28H	NUFIP2_ENST00000579665.1_Missense_Mutation_p.Q28H	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	28	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ggtgcggctgctgctgctgct	0.587																																						ENST00000225388.4											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(82-84)caG>caC	nuclear fragile X mental retardation protein interacting protein 2						55	58	57					17																	27620994		2203	4299	6502	SO:0001583	missense	57532				nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620994C>G	AB037742	AB037742	CCDS32600.1	CCDS32600.1	17q11.1	2006-03-01			2006-03-01				ENSG00000108256		ENSG00000108256				17634	17634	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609356	609356						12837692, 16407062	12837692, 16407062	Standard	Standard	NM_020772	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	uc002hdy.4	Q7Z417	Q7Z417			ENST00000225388.4:c.84G>C	17.37:g.27620994C>G	ENSP00000225388:p.Gln28His		NUFIP2_ENST00000579665.1_Missense_Mutation_p.Q28H	p.Q28H	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	142	-			28	His-rich.	A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.84G>C	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859938	0.32884	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.34	2.22	0.28083	5.34	2.22	0.28083	.	0.498628	0.17130	N	0.185844	T	0.23532	0.0569	N	0.08118	0	0.33716	D	0.616401	P;P	0.41041	0.553;0.736	B;B	0.41088	0.347;0.146	T	0.35226	-0.9797	9	0.87932	D	0	1.8404	7.7976	0.29156	0.0:0.7268:0.0:0.2732	.	28;28	Q7Z417;A1L3A6	NUFP2_HUMAN;.	H	28	.	ENSP00000225388:Q28H	Q	-	3	2	2	NUFIP2	24645120	24645120	0.854000	0.29725	1.000000	0.80357	0.983000	0.72400	-0.127000	0.10547	0.628000	0.30357	0.467000	0.42956	CAG		0.587	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2		-3.718739	-20	-20	39	39	NM_020772		3	6.678647	6.678647	48	0.058824	0	0	0	1	0	3	48	0.058824	G	27620994	C	G	27620994	3	3	73	1	0	0	0	0	1	0	0	0	10749	796	28	5	2019	5	NUFIP2	17	27620994	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		27620994	53574216	19	1385											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		77.140489	-26	-26	55	55	NM_002067		26	77.372985	77.372985	34	0.433333	0	0	0	1	0	26	34	0.433333	T	3118942	A	T	3118942	3	4	73	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		3118942	56010041	20	1386											
MEGF8	1954	broad.mit.edu	37	19	42839498	42839498	+	Silent	SNP	C	C	A	rs368954010		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:42839498C>A	ENST00000251268.6	+	5	789	c.789C>A	c.(787-789)tcC>tcA	p.S263S	MEGF8_ENST00000334370.4_Silent_p.S263S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	263					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACAACTTCTCCGCCAACACCT	0.632																																						ENST00000334370.4											0			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(787-789)tcC>tcA	multiple EGF-like-domains 8						83	91	89					19																	42839498		2010	4162	6172	SO:0001819	synonymous_variant	1954				integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42839498C>A	AB011541	AB011541	CCDS12604.2, CCDS62693.1	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429	ENSG00000105429	ENSG00000105429				3233	3233	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	"HBV pre s2 binding protein 1"	604267	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	9693030	Standard	Standard	NM_001410	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	uc002otm.5	Q7Z7M0	Q7Z7M0	OTTHUMG00000150342	OTTHUMG00000150342	ENST00000251268.6:c.789C>A	19.37:g.42839498C>A			MEGF8_ENST00000251268.6_Silent_p.S263S	p.S263S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			5	1424	+		Prostate(69;0.00682)	263		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.789C>A																																																																																										0.632	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		-6.118857	-15	-15	72	72	NM_001410		3	6.484327	6.484327	56	0.050847	1	0	0.00909568	1	0.00909568	3	56	0.050847	A	42839498	C	A	42839498	2	1	73	1	0	0	0	0	0	0	0	1	9463	639	23	5		5	MEGF8	19	42839498	Silent	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08	39720556	42839498	16289485	21	1387											
ZNF234	10780	broad.mit.edu	37	19	44654608	44654608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr19:44654608delA	ENST00000426739.2	+	5	443	c.185delA	c.(184-186)gaafs	p.E62fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	62	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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TTAGAAAAGGAAAAAAAGCTT	0.368																																						ENST00000426739.2											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(184-186)gaafs	zinc finger protein 234						63	54	57					19																	44654608		1879	4112	5991	SO:0001589	frameshift_variant	10780			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44654608delA	X78927	X78927	CCDS46101.1	CCDS46101.1	19q13	2013-01-08			2013-01-08				ENSG00000263002		ENSG00000263002		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	13027	13027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604750	604750		ZNF269		ZNF269		7865130	7865130	Standard	Standard	NM_006630	NM_006630		Approved	HZF4	uc002oyl.4	uc002oyl.4	Q14588	Q14588			ENST00000426739.2:c.185delA	19.37:g.44654608delA	ENSP00000400878:p.Glu62fs		ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs	p.E62fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			5	443	+		Prostate(69;0.0435)	62	KRAB.	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Frame_Shift_Del	DEL	ENST00000426739.2	37	c.185delA	CCDS46101.1																																																																																									0.368	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2	.	.	-10	-10	4	4			2			4	0.33						2	4	0.33	-	44654608	A	-	44654608	7	5	73	1	0	1	0	1	0	0	0	0	17784	246	9	0	195	0	ZNF234	19	44654608	Frame_Shift_Del	DEL	A	TCGA-WC-A88A-01A-11D-A39W-08	1815110	44654608	14474375	22	1388											
PPARA	5465	broad.mit.edu	37	22	46615723	46615723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	g.chr22:46615723C>T	ENST00000396000.2	+	6	788	c.523C>T	c.(523-525)Cga>Tga	p.R175*	PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Nonsense_Mutation_p.R175*|PPARA_ENST00000407236.1_Nonsense_Mutation_p.R175*|PPARA_ENST00000262735.5_Nonsense_Mutation_p.R175*			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	175					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|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 negative regulation of transcription (GO:0001078)|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 repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TCGTTTTGGACGAATGCCAAG	0.498																																						ENST00000396000.2											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(523-525)Cga>Tga	peroxisome proliferator-activated receptor alpha						74	70	71					22																	46615723		2203	4300	6503	SO:0001587	stop_gained	5465			fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46615723C>T	L02932	L02932	CCDS33669.1	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951	ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	"Nuclear hormone receptors"	9232	9232	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			170998	170998	"peroxisome proliferative activated receptor, alpha"	PPAR	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	7684926, 10591208	Standard	Standard	XM_005261655	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	uc003bgx.1	Q07869	Q07869	OTTHUMG00000150443	OTTHUMG00000150443	ENST00000396000.2:c.523C>T	22.37:g.46615723C>T	ENSP00000379322:p.Arg175*		PPARA_ENST00000262735.5_Nonsense_Mutation_p.R175*|PPARA_ENST00000407236.1_Nonsense_Mutation_p.R175*|PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Nonsense_Mutation_p.R175*	p.R175*			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	6	788	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	175		B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Nonsense_Mutation	SNP	ENST00000396000.2	37	c.523C>T	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962509	0.92791	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126	.	.	.	5.51	2.0	0.26442	5.51	2.0	0.26442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8549	0.63519	0.527:0.4729:0.0:0.0	.	.	.	.	X	175	.	ENSP00000262735:R175X	R	+	1	2	2	PPARA	44994387	44994387	0.866000	0.29940	0.999000	0.59377	0.551000	0.35334	1.285000	0.33261	0.622000	0.30249	0.555000	0.69702	CGA		0.498	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3		21.016806	-13	-13	57	57	NM_001001928		10	26.461772	26.461772	46	0.178571	0	0	0	1	0	10	46	0.178571	T	46615723	C	T	46615723	4	4	73	1	0	0	0	0	0	1	0	0	12297	528	19	1	537	1	PPARA	22	46615723	Nonsense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		46615723	4688843	23	1389											
LUZP1	7798	broad.mit.edu	37	1	23418835	23418835	+	Silent	SNP	C	C	T	rs202187077		TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000374623.3_Silent_p.P640P|LUZP1_ENST00000314174.5_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468																																						ENST00000302291.4											2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1918-1920)ccG>ccA	leucine zipper protein 1						188	179	182					1																	23418835		2203	4300	6503	SO:0001819	synonymous_variant	7798				nucleus		g.chr1:23418835C>T	BC051733	BC051733	CCDS30628.1	CCDS30628.1	1p36	2008-02-05			2008-02-05			ENSG00000169641	ENSG00000169641	ENSG00000169641	ENSG00000169641				14985	14985	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601422	601422						8812416	8812416	Standard	Standard	NM_033631	NM_033631		Approved	LUZP	uc010odv.1	uc010odv.1	Q86V48	Q86V48	OTTHUMG00000003227	OTTHUMG00000003227	ENST00000302291.4:c.1920G>A	1.37:g.23418835C>T			LUZP1_ENST00000374623.3_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000314174.5_Silent_p.P640P	p.P640P			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	2721	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	640		Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.1920G>A	CCDS30628.1																																																																																									0.468	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		-18.997514	-72	-72	164	164	NM_033631		4	7.506798	7.506798	109	0.035398	0	0	0	1	0	4	109	0.035398	T	23418835	C	T	23418835	2	4	74	1	0	0	0	0	0	0	0	1	9086	755	27	1		1	LUZP1	1	23418835	Silent	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		23418835	225831786	1	1390											
KIDINS220	57498	broad.mit.edu	37	2	8953441	8953441	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr2:8953441C>T	ENST00000256707.3	-	5	512	c.331G>A	c.(331-333)Gca>Aca	p.A111T	KIDINS220_ENST00000418530.1_Missense_Mutation_p.A69T|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A111T|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A111T|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A111T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	111					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTGTAACATGCCCACATAAGA	0.373																																						ENST00000256707.3											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(331-333)Gca>Aca	kinase D-interacting substrate, 220kDa						152	140	144					2																	8953441		1891	4132	6023	SO:0001583	missense	57498			activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8953441C>T	AK025528	AK025528	CCDS42650.1	CCDS42650.1	2p24	2013-01-10			2013-01-10			ENSG00000134313	ENSG00000134313	ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	29508	29508	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	"ankyrin repeat-rich membrane-spanning protein"	615759	615759						10998417, 10574462	10998417, 10574462	Standard	Standard	NM_020738	NM_020738		Approved	ARMS	uc002qzc.2	uc002qzc.2	Q9ULH0	Q9ULH0	OTTHUMG00000151658	OTTHUMG00000151658	ENST00000256707.3:c.331G>A	2.37:g.8953441C>T	ENSP00000256707:p.Ala111Thr		KIDINS220_ENST00000418530.1_Missense_Mutation_p.A69T|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A111T|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A111T|KIDINS220_ENST00000427284.1_Missense_Mutation_p.A111T	p.A111T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			5	512	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		111		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.331G>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208718	0.95069	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	D;D;D;D;D;D	0.86956	-2.19;-2.19;-1.56;-2.19;-2.19;-2.19	6.06	5.17	0.71159	6.06	5.17	0.71159	Ankyrin repeat-containing domain (3);	0.099710	0.64402	D	0.000002	D	0.95101	0.8413	M	0.93150	3.385	0.80722	D	1	P;D;D	0.76494	0.565;0.995;0.999	B;D;D	0.74023	0.341;0.97;0.982	D	0.96291	0.9214	10	0.87932	D	0	.	16.1848	0.81942	0.1344:0.8656:0.0:0.0	.	111;69;111	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	T	111;111;69;111;111;111	ENSP00000256707:A111T;ENSP00000411849:A111T;ENSP00000414923:A69T;ENSP00000418974:A111T;ENSP00000419964:A111T;ENSP00000319947:A111T	ENSP00000256707:A111T	A	-	1	0	0	KIDINS220	8870892	8870892	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	5.525000	0.67110	1.530000	0.49136	0.650000	0.86243	GCA		0.373	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2		-43.968834	-36	-36	110	110	NM_020738		4	7.121035	7.121035	194	0.020202	0	0	0	1	0	4	194	0.020202	T	8953441	C	T	8953441	3	4	74	1	0	0	0	0	1	0	0	0	8271	739	26	2	5088	2	KIDINS220	2	8953441	Missense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		8953441	234245932	2	1391											
SF3B1	23451	broad.mit.edu	37	2	198267360	198267360	+	Missense_Mutation	SNP	T	T	G	rs374250186		TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr2:198267360T>G	ENST00000335508.6	-	14	2088	c.1997A>C	c.(1996-1998)aAg>aCg	p.K666T	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	666					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K666R(7)|p.K666T(6)|p.K666M(6)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGTACAATCTTAATACCAGT	0.413			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	19	Substitution - Missense(19)	haematopoietic_and_lymphoid_tissue(18)|NS(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1996-1998)aAg>aCg	splicing factor 3b, subunit 1, 155kDa						116	116	116					2																	198267360		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267360T>G	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1997A>C	2.37:g.198267360T>G	ENSP00000335321:p.Lys666Thr			p.K666T	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2088	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1997A>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736206	0.89482	.	.	ENSG00000115524	ENST00000335508	T	0.65549	-0.16	5.68	5.68	0.88126	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89754	0.3942	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	666	O75533	SF3B1_HUMAN	T	666	ENSP00000335321:K666T	ENSP00000335321:K666T	K	-	2	0	0	SF3B1	197975605	197975605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	AAG		0.413	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		88.893370	-21	-21	48	48			28	88.908523	88.908523	30	0.482759	0	0	0	1	0	28	30	0.482759	G	198267360	T	G	198267360	3	3	74	1	0	0	0	0	1	0	0	0	14149	1609	56	5	1965	5	SF3B1	2	198267360	Missense_Mutation	SNP	T	TCGA-WC-AA9A-01A-11D-A39W-08	189313919	198267360	44932013	3	1392											
BAP1	8314	broad.mit.edu	37	3	52441217	52441217	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr3:52441217C>G	ENST00000460680.1	-	7	1024	c.553G>C	c.(553-555)Ggg>Cgg	p.G185R	BAP1_ENST00000296288.5_Missense_Mutation_p.G185R	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACCTTCAGCCCATCCAGCTCA	0.592			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(553-555)Ggg>Cgg	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						67	65	66					3																	52441217		2203	4300	6503	SO:0001583	missense	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52441217C>G	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.553G>C	3.37:g.52441217C>G	ENSP00000417132:p.Gly185Arg		BAP1_ENST00000296288.5_Missense_Mutation_p.G185R	p.G185R	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	7	1024	-			185		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.553G>C	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265133	0.95399	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	D;D;D	0.83250	-1.7;-1.7;-1.7	6.05	6.05	0.98169	6.05	6.05	0.98169	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.000000	0.85682	D	0.000000	D	0.94837	0.8332	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95573	0.8640	10	0.87932	D	0	-6.6922	20.6086	0.99469	0.0:1.0:0.0:0.0	.	185	Q92560	BAP1_HUMAN	R	185;185;106	ENSP00000417132:G185R;ENSP00000296288:G185R;ENSP00000417776:G106R	ENSP00000296288:G185R	G	-	1	0	0	BAP1	52416257	52416257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.880000	0.98712	0.655000	0.94253	GGG		0.592	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		74.335962	-33	-33	41	41			20	74.335961	74.335961	0	1	0	0	0	1	0	20	0	1	G	52441217	C	G	52441217	3	3	74	1	0	0	0	0	1	0	0	0	1311	594	21	5	1680	5	BAP1	3	52441217	Missense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		52441217	145581213	4	1393											
FBXL17	64839	broad.mit.edu	37	5	107216757	107216757	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr5:107216757C>A	ENST00000542267.1	-	8	2352	c.1946G>T	c.(1945-1947)gGg>gTg	p.G649V	FBXL17_ENST00000359660.5_Missense_Mutation_p.G251V|FBXL17_ENST00000496714.1_Missense_Mutation_p.G251V	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	649										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TCTCATCAGCCCCAAATATCT	0.413																																						ENST00000542267.1											0			endometrium(1)|large_intestine(4)|lung(1)	6						c.(1945-1947)gGg>gTg	F-box and leucine-rich repeat protein 17						193	171	179					5																	107216757		2202	4300	6502	SO:0001583	missense	64839						g.chr5:107216757C>A	AL133602	AL133602	CCDS54886.1	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	"F-boxes / Leucine-rich repeats"	13615	13615	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609083	609083	"F-box only protein 13"	FBXO13	"F-box only protein 13"	FBXO13				Standard	Standard	NM_001163315	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	uc011cvc.2	Q9UF56	Q9UF56	OTTHUMG00000159785	OTTHUMG00000159785	ENST00000542267.1:c.1946G>T	5.37:g.107216757C>A	ENSP00000437464:p.Gly649Val		FBXL17_ENST00000359660.5_Missense_Mutation_p.G251V|FBXL17_ENST00000496714.1_Missense_Mutation_p.G251V	p.G649V	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	8	2352	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	649		A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1946G>T	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339445	0.81911	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02421	4.3;4.3;4.3	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.13970	0.0338	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.00041	-1.2232	10	0.59425	D	0.04	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	649;251	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	V	251;649;251	ENSP00000352683:G251V;ENSP00000437464:G649V;ENSP00000418111:G251V	ENSP00000352683:G251V	G	-	2	0	0	FBXL17	107244656	107244656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.459000	0.80802	2.824000	0.97209	0.655000	0.94253	GGG		0.413	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			133.269028	-9	-9	121	121			44	135.144598	135.144598	76	0.366667	1	0	4.10826e-27	1	4.31367e-27	44	76	0.366667	A	107216757	C	A	107216757	3	1	74	1	0	0	0	0	1	0	0	0	5713	623	22	5	167	5	FBXL17	5	107216757	Missense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		107216757	73698503	5	1394											
APC	324	broad.mit.edu	37	5	112179702	112179702	+	Missense_Mutation	SNP	A	A	C			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr5:112179702A>C	ENST00000457016.1	+	16	8791	c.8411A>C	c.(8410-8412)cAg>cCg	p.Q2804P	APC_ENST00000508376.2_Missense_Mutation_p.Q2804P|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.Q2804P			P25054	APC_HUMAN	adenomatous polyposis coli	2804	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGGCCATCTCAGATCCCAACT	0.488		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(8410-8412)cAg>cCg	adenomatous polyposis coli						87	90	89					5																	112179702		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112179702A>C	M74088	M74088	CCDS4107.1	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982	ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	583	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	"protein phosphatase 1, regulatory subunit 46"	611731	611731	"adenomatosis polyposis coli"		"adenomatosis polyposis coli"			1651563	1651563	Standard	Standard	NM_001127511	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	uc003kpy.4	P25054	P25054	OTTHUMG00000128806	OTTHUMG00000128806	ENST00000457016.1:c.8411A>C	5.37:g.112179702A>C	ENSP00000413133:p.Gln2804Pro		APC_ENST00000508376.2_Missense_Mutation_p.Q2804P|APC_ENST00000257430.4_Missense_Mutation_p.Q2804P|CTC-554D6.1_ENST00000520401.1_Intron	p.Q2804P			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	8791	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2804	Ser-rich.	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.8411A>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876930	0.33162	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.81247	-1.47;-1.47;-1.47	5.92	5.92	0.95590	5.92	5.92	0.95590	EB-1 binding (1);	0.059812	0.64402	D	0.000001	D	0.83788	0.5330	L	0.29908	0.895	0.58432	D	0.999995	D;D	0.71674	0.998;0.998	D;D	0.75020	0.943;0.985	T	0.82770	-0.0293	9	.	.	.	-8.164	16.3662	0.83325	1.0:0.0:0.0:0.0	.	2806;2804	Q4LE70;P25054	.;APC_HUMAN	P	2804	ENSP00000413133:Q2804P;ENSP00000257430:Q2804P;ENSP00000427089:Q2804P	.	Q	+	2	0	0	APC	112207601	112207601	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	5.085000	0.64468	2.274000	0.75844	0.533000	0.62120	CAG		0.488	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		140.078230	-22	-22	52	52	NM_000038		45	140.247565	140.247565	37	0.54878	0	0	0	1	0	45	37	0.54878	C	112179702	A	C	112179702	3	2	74	1	0	0	0	0	1	0	0	0	763	188	7	5	8469	5	APC	5	112179702	Missense_Mutation	SNP	A	TCGA-WC-AA9A-01A-11D-A39W-08	4962945	112179702	68735558	6	1395											
EHMT2	10919	broad.mit.edu	37	6	31852696	31852696	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr6:31852696G>A	ENST00000375537.4	-	19	2447	c.2441C>T	c.(2440-2442)aCt>aTt	p.T814I	EHMT2_ENST00000395728.3_Missense_Mutation_p.T871I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.T837I|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375530.4_Missense_Mutation_p.T780I	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	814					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CACGTTGTCAGTGAGGGTGAC	0.632																																						ENST00000395728.3											0			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(2611-2613)aCt>aTt	euchromatic histone-lysine N-methyltransferase 2						62	51	55					6																	31852696		2203	4300	6503	SO:0001583	missense	10919			DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31852696G>A	AF134726	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	14129	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604599	604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	8457211, 11316813	Standard	Standard	XM_005274833	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	uc003nxz.1	Q96KQ7	Q96KQ7	OTTHUMG00000031180	OTTHUMG00000031180	ENST00000375537.4:c.2441C>T	6.37:g.31852696G>A	ENSP00000364687:p.Thr814Ile		EHMT2_ENST00000375528.4_Missense_Mutation_p.T837I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.T780I|EHMT2_ENST00000375537.4_Missense_Mutation_p.T814I	p.T871I			Q96KQ7	EHMT2_HUMAN			18	2611	-			814		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.2612C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457173	0.43634	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.44	4.44	0.53790	4.44	4.44	0.53790	Ankyrin repeat-containing domain (3);	0.488062	0.20352	N	0.094021	T	0.35595	0.0937	L	0.31157	0.91	0.32015	N	0.601567	B;B;B;B	0.30236	0.274;0.232;0.274;0.274	B;B;B;B	0.34346	0.18;0.113;0.18;0.18	T	0.29792	-1.0000	10	0.37606	T	0.19	.	11.5827	0.50900	0.0:0.0:0.8214:0.1786	.	837;780;814;628	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	I	871;837;780;814;628	ENSP00000379078:T871I;ENSP00000364678:T837I;ENSP00000364680:T780I;ENSP00000364687:T814I	ENSP00000364678:T837I	T	-	2	0	0	EHMT2	31960675	31960675	0.000000	0.05858	0.984000	0.44739	0.954000	0.61252	0.427000	0.21379	2.466000	0.83321	0.650000	0.86243	ACT		0.632	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5		-1.610168	-14	-14	69	69	NM_006709		3	6.608511	6.608511	40	0.069767	0	0	0	1	0	3	40	0.069767	A	31852696	G	A	31852696	3	1	74	1	0	0	0	0	1	0	0	0	4984	1029	36	3	1231	3	EHMT2	6	31852696	Missense_Mutation	SNP	G	TCGA-WC-AA9A-01A-11D-A39W-08		31852696	139262371	7	1396											
DDX50	79009	broad.mit.edu	37	10	70661179	70661179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr10:70661179delG	ENST00000373585.3	+	1	146	c.39delG	c.(37-39)ctgfs	p.L13fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	13						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TTATGGAGCTGGAAGCACCCT	0.657																																						ENST00000373585.3											0			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(37-39)ctgfs	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50						24	22	23					10																	70661179		2196	4289	6485	SO:0001589	frameshift_variant	79009				nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70661179delG	AF334103	AF334103	CCDS7283.1	CCDS7283.1	10q22.2	2010-09-30			2010-09-30			ENSG00000107625	ENSG00000107625	ENSG00000107625	ENSG00000107625		"DEAD-boxes"	"DEAD-boxes"	17906	17906	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610373	610373						11891046	11891046	Standard	Standard	NM_024045	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	uc001jou.3	Q9BQ39	Q9BQ39	OTTHUMG00000018362	OTTHUMG00000018362	ENST00000373585.3:c.39delG	10.37:g.70661179delG	ENSP00000362687:p.Leu13fs			p.L13fs	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			1	146	+			13		Q5VX37|Q8WV76|Q9BWI8	Frame_Shift_Del	DEL	ENST00000373585.3	37	c.39delG	CCDS7283.1																																																																																									0.657	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	.	.	-7	-7	7	7	NM_024045		2			4	0.33						2	4	0.33	-	70661179	G	-	70661179	7	5	74	1	0	1	0	1	0	0	0	0	4368	1335	47	0	41	0	DDX50	10	70661179	Frame_Shift_Del	DEL	G	TCGA-WC-AA9A-01A-11D-A39W-08		70661179	64873568	8	1397											
FLRT1	28992	broad.mit.edu	37	11	63884416	63884416	+	Intron	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr11:63884416G>A	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.R226H	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCCTGCGGCGCCTGGTGCTG	0.657																																						ENST00000246841.3											0			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(676-678)cGc>cAc	fibronectin leucine rich transmembrane protein 1						35	33	34					11																	63884416		2201	4296	6497	SO:0001627	intron_variant	23769			cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884416G>A	AF202922	AF169675	CCDS8056.1	CCDS8057.1	11q13.1	2007-07-24	2007-06-11		2014-03-03			ENSG00000133315	ENSG00000133315					"Fibronectin type III domain containing"	29598	3760	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610400	604806						15691879	10644439, 24482476	Standard	Standard	NM_014067	NM_013280		Approved	LRP16	uc001nyh.3	uc001nyi.1	Q9BQ69	Q9NZU1	OTTHUMG00000167843		ENST00000255681.6:c.517+34294C>T	11.37:g.63884416G>A			MACROD1_ENST00000255681.6_Intron	p.R226H	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN			2	1720	+			198		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.677G>A	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786658	0.70337	.	.	ENSG00000126500	ENST00000246841	T	0.56776	0.44	5.56	4.64	0.57946	5.56	4.64	0.57946	.	0.344321	0.30575	N	0.009332	T	0.70422	0.3222	M	0.75085	2.285	0.49130	D	0.999758	D	0.89917	1.0	D	0.69479	0.964	T	0.72561	-0.4256	10	0.46703	T	0.11	-25.1721	14.6397	0.68714	0.0:0.0:0.8529:0.1471	.	198	Q9NZU1	FLRT1_HUMAN	H	226	ENSP00000246841:R226H	ENSP00000246841:R226H	R	+	2	0	0	FLRT1	63640992	63640992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.852000	0.86927	1.323000	0.45263	0.555000	0.69702	CGC		0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1		16.041685	-5	-5	25	25	NM_014067		6	16.906797	16.906797	15	0.285714	0	0	0	1	0	6	15	0.285714	A	63884416	G	A	63884416	1	1	74	0	1	0	0	0	0	0	0	0	5938	1087	38	1		1	FLRT1	11	63884416	Intron	SNP	G	TCGA-WC-AA9A-01A-11D-A39W-08		63884416	71122100	9	1398											
CNPY2	10330	broad.mit.edu	37	12	56705072	56705072	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr12:56705072G>A	ENST00000273308.4	-	4	871	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R111W|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	111	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						TCTCCATTCCGGCCCACTACA	0.522																																						ENST00000273308.4											0			large_intestine(2)|lung(2)	4						c.(331-333)Cgg>Tgg	canopy FGF signaling regulator 2						223	206	212					12																	56705072		2203	4300	6503	SO:0001583	missense	10330				endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705072G>A	AB015631	AB015631	CCDS8914.1	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727		ENSG00000257727				13529	13529	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605861	605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	10072769, 15905959	Standard	Standard	NM_001190991	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	uc001sku.2	Q9Y2B0	Q9Y2B0	OTTHUMG00000170330	OTTHUMG00000170330	ENST00000273308.4:c.331C>T	12.37:g.56705072G>A	ENSP00000273308:p.Arg111Trp		RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R111W|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	p.R111W	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	871	-			111	Saposin B-type.	B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.331C>T	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821989	0.90873	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.03	5.03	0.67393	5.03	5.03	0.67393	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.65150	-0.6238	10	0.37606	T	0.19	-12.0587	16.232	0.82352	0.0:0.0:1.0:0.0	.	111	Q9Y2B0	CNPY2_HUMAN	W	111;111;111;59	ENSP00000446743:R111W;ENSP00000273308:R111W;ENSP00000448809:R111W;ENSP00000446784:R59W	ENSP00000273308:R111W	R	-	1	2	2	RP11-977G19.10;CNPY2	54991339	54991339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.373000	0.66162	2.521000	0.84997	0.561000	0.74099	CGG		0.522	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1		308.891984	-75	-75	147	147	NM_014255		96	309.127241	309.127241	111	0.463768	0	0	0	1	0	96	111	0.463768	A	56705072	G	A	56705072	3	1	74	1	0	0	0	0	1	0	0	0	3628	1115	39	1	229	1	CNPY2	12	56705072	Missense_Mutation	SNP	G	TCGA-WC-AA9A-01A-11D-A39W-08		56705072	77146823	10	1399											
TPCN1	53373	broad.mit.edu	37	12	113723746	113723746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr12:113723746C>G	ENST00000335509.6	+	18	1820	c.1506C>G	c.(1504-1506)taC>taG	p.Y502*	TPCN1_ENST00000550785.1_Nonsense_Mutation_p.Y574*|TPCN1_ENST00000392569.4_Nonsense_Mutation_p.Y434*|TPCN1_ENST00000541517.1_Nonsense_Mutation_p.Y574*	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	502					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTGTGGAGTACTTGTCTTCCG	0.587																																						ENST00000550785.1											0			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1720-1722)taC>taG	two pore segment channel 1						160	135	143					12																	113723746		2203	4300	6503	SO:0001587	stop_gained	53373				endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113723746C>G	AB032995	AB032995	CCDS31908.1, CCDS44985.1	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			2011-07-05			ENSG00000186815	ENSG00000186815	ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	"Voltage-gated ion channels / Two-pore channels"	18182	18182	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609666	609666						10574461, 10753632, 16382101	10574461, 10753632, 16382101	Standard	Standard	XM_005253905	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	uc001tux.3	Q9ULQ1	Q9ULQ1	OTTHUMG00000169625	OTTHUMG00000169625	ENST00000335509.6:c.1506C>G	12.37:g.113723746C>G	ENSP00000335300:p.Tyr502*		TPCN1_ENST00000541517.1_Nonsense_Mutation_p.Y574*|TPCN1_ENST00000392569.4_Nonsense_Mutation_p.Y434*|TPCN1_ENST00000335509.6_Nonsense_Mutation_p.Y502*	p.Y574*	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			19	1891	+			502		A7E258|Q86XS9|Q8NC20	Nonsense_Mutation	SNP	ENST00000335509.6	37	c.1722C>G	CCDS31908.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.937682|5.937682	0.97122|0.97122	.|.	.|.	ENSG00000186815|ENSG00000186815	ENST00000546781|ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	.|.	.|.	.|.	4.76|4.76	2.5|2.5	0.30297|0.30297	4.76|4.76	2.5|2.5	0.30297|0.30297	.|.	.|0.067384	.|0.64402	.|D	.|0.000008	T|.	0.22666|.	0.0547|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33752|.	-0.9856|.	3|.	.|0.02654	.|T	.|1	-22.7386|-22.7386	9.8195|9.8195	0.40874|0.40874	0.0:0.7401:0.0:0.2599|0.0:0.7401:0.0:0.2599	.|.	.|.	.|.	.|.	V|X	171|502;574;574;434	.|.	.|ENSP00000335300:Y502X	L|Y	+|+	1|3	0|2	0|2	TPCN1|TPCN1	112208129|112208129	112208129|112208129	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.881000|0.881000	0.50899|0.50899	0.913000|0.913000	0.28611|0.28611	1.055000|1.055000	0.40461|0.40461	0.591000|0.591000	0.81541|0.81541	CTT|TAC		0.587	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3		136.042785	-34	-34	56	56	NM_017901		39	137.233524	137.233524	21	0.65	0	0	0	1	0	39	21	0.65	G	113723746	C	G	113723746	4	3	74	1	0	0	0	0	0	1	0	0	16392	576	20	5	1792	5	TPCN1	12	113723746	Nonsense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08	57018674	113723746	20128149	11	1400											
PRKCH	5583	broad.mit.edu	37	14	61997175	61997175	+	Silent	SNP	C	C	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr14:61997175C>A	ENST00000332981.5	+	12	2008	c.1623C>A	c.(1621-1623)ggC>ggA	p.G541G	PRKCH_ENST00000555082.1_Silent_p.G380G|RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.A46E	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GGGCAATGGGCGTGTTGCTCT	0.517																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000556347.1											0										c.(136-138)gCg>gAg							227	191	203					14																	61997175		2203	4300	6503	SO:0001819	synonymous_variant	0						g.chr14:61997175C>A	M55284		CCDS9752.1		14q23.1	2009-07-10						ENSG00000027075	ENSG00000027075			2.7.11.1			9403		protein-coding gene	gene with protein product					605437			PRKCL				1986216, 1545821		Standard		NM_006255			Approved	PKC-L, PKCL	uc001xfn.3		P24723		OTTHUMG00000152341		ENST00000332981.5:c.1623C>A	14.37:g.61997175C>A			PRKCH_ENST00000332981.5_Silent_p.G541G|PRKCH_ENST00000555082.1_Silent_p.G380G	p.A46E							2	137	+					B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.137C>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	8.251	0.808913	0.16537	.	.	ENSG00000258989	ENST00000556347	.	.	.	5.63	-6.63	0.01807	5.63	-6.63	0.01807	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43032	-0.9416	4	.	.	.	.	3.2251	0.06729	0.2075:0.2466:0.0728:0.4731	.	.	.	.	E	46	.	.	A	+	2	0	0	RP11-47I22.4	61066928	61066928	0.000000	0.05858	0.488000	0.27440	0.843000	0.47879	-5.643000	0.00107	-0.944000	0.03686	-0.145000	0.13849	GCG		0.517	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2		-37.321223	-24	-24	135	135	NM_006255		4	7.039049	7.039049	171	0.022857	1	0	1	1	1	4	171	0.022857	A	61997175	C	A	61997175	2	1	74	1	0	0	0	0	0	0	0	1	12513	755	27	5		5	PRKCH	14	61997175	Silent	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		61997175	45352365	12	1401											
PIK3R5	23533	broad.mit.edu	37	17	8789831	8789831	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr17:8789831G>A	ENST00000447110.1	-	13	2121	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A666V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A665V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	666	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGGTCTGGCGGCAAAGCGGCA	0.662																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1											0			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1996-1998)gCc>gTc	phosphoinositide-3-kinase, regulatory subunit 5						54	60	58					17																	8789831		2203	4300	6503	SO:0001583	missense	23533			platelet activation	cytosol|membrane|nucleus		g.chr17:8789831G>A	AF128881	AF128881	CCDS11147.1, CCDS73986.1	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506	ENSG00000141506	ENSG00000141506				30035	30035	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611317	611317						12507995	12507995	Standard	Standard	NM_014308	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	uc002glt.3	Q8WYR1	Q8WYR1	OTTHUMG00000108197	OTTHUMG00000108197	ENST00000447110.1:c.1997C>T	17.37:g.8789831G>A	ENSP00000392812:p.Ala666Val		PIK3R5_ENST00000584803.1_Missense_Mutation_p.A665V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A666V	p.A666V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			13	2121	-			666	Interaction with G beta gamma proteins (By similarity).	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1997C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744802	0.49151	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.81499	-1.5	4.78	3.73	0.42828	4.78	3.73	0.42828	.	0.115341	0.64402	D	0.000018	D	0.83714	0.5314	L	0.34521	1.04	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.85647	0.1280	10	0.72032	D	0.01	-17.27	14.0102	0.64490	0.0:0.1527:0.8473:0.0	.	666	Q8WYR1	PI3R5_HUMAN	V	666	ENSP00000392812:A666V	ENSP00000269300:A666V	A	-	2	0	0	PIK3R5	8730556	8730556	1.000000	0.71417	0.875000	0.34327	0.915000	0.54546	6.068000	0.71201	2.199000	0.70637	0.313000	0.20887	GCC		0.662	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2		-3.817266	-9	-9	39	39	NM_014308		3	6.306143	6.306143	47	0.06	0	0	0	1	0	3	47	0.06	A	8789831	G	A	8789831	3	1	74	1	0	0	0	0	1	0	0	0	11922	1203	42	2	673	2	PIK3R5	17	8789831	Missense_Mutation	SNP	G	TCGA-WC-AA9A-01A-11D-A39W-08		8789831	72405379	13	1402											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		42.813087	-25	-25	56	56	NM_002067		15	43.918574	43.918574	30	0.333333	0	0	0	1	0	15	30	0.333333	T	3118942	A	T	3118942	3	4	74	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-WC-AA9A-01A-11D-A39W-08		3118942	56010041	14	1403											
MAGEC3	139081	broad.mit.edu	37	X	140984758	140984758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	g.chrX:140984758delA	ENST00000298296.1	+	7	1214	c.1214delA	c.(1213-1215)cagfs	p.Q405fs	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000409007.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000443323.2_Frame_Shift_Del_p.Q27fs|MAGEC3_ENST00000536088.1_Frame_Shift_Del_p.Q107fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	405	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					atctctccccagggtcctccg	0.582																																						ENST00000298296.1											0			NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1213-1215)cagfs	melanoma antigen family C, 3						27	25	26					X																	140984758		2202	4292	6494	SO:0001589	frameshift_variant	139081						g.chrX:140984758delA	AF490508	AF490508	CCDS14676.1, CCDS14677.1	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			2009-03-25			ENSG00000165509	ENSG00000165509	ENSG00000165509	ENSG00000165509				23798	23798	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	"cancer/testis antigen family 7, member 2"	300469	300469						10861452	10861452	Standard	Standard	NM_138702	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	uc011mwp.2	Q8TD91	Q8TD91	OTTHUMG00000022570	OTTHUMG00000022570	ENST00000298296.1:c.1214delA	X.37:g.140984758delA	ENSP00000298296:p.Gln405fs		MAGEC3_ENST00000409007.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000536088.1_Frame_Shift_Del_p.Q107fs|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Frame_Shift_Del_p.Q27fs|MAGEC3_ENST00000544766.1_Frame_Shift_Del_p.Q107fs	p.Q405fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			7	1214	+	Acute lymphoblastic leukemia(192;6.56e-05)		405	Pro-rich.	Q3SYA7|Q5JZ43|Q9BZ80	Frame_Shift_Del	DEL	ENST00000298296.1	37	c.1214delA	CCDS14676.1																																																																																									0.582	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	.	.	-8	-8	7	7	NM_138702		2			4	0.33						2	4	0.33	-	140984758	A	-	140984758	7	5	74	1	0	1	0	1	0	0	0	0	9182	188	7	0	1469	0	MAGEC3	23	140984758	Frame_Shift_Del	DEL	A	TCGA-WC-AA9A-01A-11D-A39W-08		140984758	14285802	15	1404											
NBPF10	100132406	broad.mit.edu	37	1	145293547	145293547	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr1:145293547G>T	ENST00000369339.3	+	3	395	c.142G>T	c.(142-144)Gcc>Tcc	p.A48S	NBPF10_ENST00000342960.5_Missense_Mutation_p.A48S|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	319						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AACTCAACTGGCCGGCTTCCT	0.438																																						ENST00000342960.5											0			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(142-144)Gcc>Tcc	neuroblastoma breakpoint family, member 10																																			SO:0001583	missense	100132406						g.chr1:145293547G>T	BC021111	BC021111			1q21.1	2013-01-17			2013-01-17			ENSG00000163386	ENSG00000271425	ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	"neuroblastoma breakpoint family"	31992	31992	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614000	614000						16079250	16079250	Standard	Standard	NM_001039703	NM_001039703		Approved	AG1			Q6P3W6	Q6P3W6	OTTHUMG00000013757	OTTHUMG00000013757	ENST00000369339.3:c.142G>T	1.37:g.145293547G>T	ENSP00000358345:p.Ala48Ser		NBPF10_ENST00000369339.3_Missense_Mutation_p.A48S|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.A48S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	177	+	all_hematologic(923;0.032)		48		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.142G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.144|9.144	1.014467|1.014467	0.19277|0.19277	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.03801|.	3.8|.	1.0|1.0	-2.0|-2.0	0.07433|0.07433	1.0|1.0	-2.0|-2.0	0.07433|0.07433	.|.	.|.	.|.	.|.	.|.	T|T	0.23649|0.23649	0.0572|0.0572	M|M	0.71296|0.71296	2.17|2.17	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40887|0.40887	-0.9539|-0.9539	7|6	0.56958|0.87932	D|D	0.05|0	.|.	1.9372|1.9372	0.03339|0.03339	0.2412:0.0:0.4556:0.3032|0.2412:0.0:0.4556:0.3032	.|.	.|.	.|.	.|.	S|V	48|7	ENSP00000345684:A48S|.	ENSP00000345684:A48S|ENSP00000414194:G7V	A|G	+|+	1|2	0|0	0|0	NBPF10|NBPF10	144004904|144004904	144004904|144004904	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.898000|-0.898000	0.04105|0.04105	-0.699000|-0.699000	0.05077|0.05077	0.121000|0.121000	0.15741|0.15741	GCC|GGC		0.438	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3		69.346321	78	78	746	746	NM_001039703		54	129.235304	129.235304	380	0.124424	1	0	8.87156e-34	1	8.87156e-34	54	380	0.124424	T	145293547	G	T	145293547	3	4	75	1	0	0	0	0	1	0	0	0	10193	1203	42	5	144	5	NBPF10	1	145293547	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		145293547	103957074	1	1405											
SELE	6401	broad.mit.edu	37	1	169698468	169698468	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr1:169698468A>T	ENST00000333360.7	-	7	1088	c.949T>A	c.(949-951)Tgc>Agc	p.C317S	SELE_ENST00000367775.1_Missense_Mutation_p.C255S|SELE_ENST00000367777.1_Missense_Mutation_p.C317S|SELE_ENST00000367782.4_Missense_Mutation_p.C317S|SELE_ENST00000367781.4_Missense_Mutation_p.C317S|SELE_ENST00000367780.4_Missense_Mutation_p.C255S|SELE_ENST00000367779.4_Missense_Mutation_p.C317S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.C317S|SELE_ENST00000367774.1_Missense_Mutation_p.C317S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	317	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GAATGGCTGCACCTCACAGAG	0.522																																						ENST00000333360.7											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(949-951)Tgc>Agc	selectin E						61	54	57					1																	169698468		2203	4300	6503	SO:0001583	missense	6401			actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698468A>T	M30640	M30640	CCDS1283.1	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908	ENSG00000007908	ENSG00000007908		"CD molecules"	"CD molecules"	10718	10718	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			131210	131210	"endothelial adhesion molecule 1"	ELAM1, ELAM	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	1375831	Standard	Standard	NM_000450	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	uc001ggm.4	P16581	P16581	OTTHUMG00000034851	OTTHUMG00000034851	ENST00000333360.7:c.949T>A	1.37:g.169698468A>T	ENSP00000331736:p.Cys317Ser		SELE_ENST00000367779.4_Missense_Mutation_p.C317S|SELE_ENST00000367780.4_Missense_Mutation_p.C255S|SELE_ENST00000367781.4_Missense_Mutation_p.C317S|SELE_ENST00000367782.4_Missense_Mutation_p.C317S|SELE_ENST00000367775.1_Missense_Mutation_p.C255S|SELE_ENST00000367774.1_Missense_Mutation_p.C317S|SELE_ENST00000367776.1_Missense_Mutation_p.C317S|SELE_ENST00000367777.1_Missense_Mutation_p.C317S|C1orf112_ENST00000498289.1_Intron	p.C317S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			7	1088	-	all_hematologic(923;0.208)		317	Sushi 3.	A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.949T>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960662	0.53400	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.73258	1.89;1.89;1.89;-0.73;1.89;1.89;1.89;1.89;-0.73	5.13	5.13	0.70059	5.13	5.13	0.70059	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.45126	D	0.000386	T	0.81569	0.4850	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.85125	0.0971	10	0.72032	D	0.01	-7.1846	12.9225	0.58241	1.0:0.0:0.0:0.0	.	317	P16581	LYAM2_HUMAN	S	317;317;255;317;317;317;255;317;317	ENSP00000356755:C317S;ENSP00000356756:C317S;ENSP00000356754:C255S;ENSP00000356753:C317S;ENSP00000331736:C317S;ENSP00000356751:C317S;ENSP00000356749:C255S;ENSP00000356750:C317S;ENSP00000356748:C317S	ENSP00000331736:C317S	C	-	1	0	0	SELE	167965092	167965092	1.000000	0.71417	0.113000	0.21522	0.089000	0.18198	6.254000	0.72460	1.928000	0.55862	0.528000	0.53228	TGC		0.522	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1		25.867028	-2	-2	31	31	NM_000450		9	26.196903	26.196903	15	0.375	0	0	0	1	0	9	15	0.375	T	169698468	A	T	169698468	3	4	75	1	0	0	0	0	1	0	0	0	14013	159	6	5	911	5	SELE	1	169698468	Missense_Mutation	SNP	A	TCGA-WC-AA9E-01A-11D-A39W-08	24404921	169698468	79552153	2	1406											
DYSF	8291	broad.mit.edu	37	2	71797031	71797031	+	Silent	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:71797031G>A	ENST00000258104.3	+	27	3169	c.2892G>A	c.(2890-2892)caG>caA	p.Q964Q	DYSF_ENST00000413539.2_Silent_p.Q995Q|DYSF_ENST00000409651.1_Silent_p.Q996Q|DYSF_ENST00000409744.1_Silent_p.Q951Q|DYSF_ENST00000409762.1_Silent_p.Q981Q|DYSF_ENST00000410020.3_Silent_p.Q982Q|DYSF_ENST00000409582.3_Silent_p.Q981Q|DYSF_ENST00000429174.2_Silent_p.Q964Q|DYSF_ENST00000409366.1_Silent_p.Q965Q|DYSF_ENST00000394120.2_Silent_p.Q965Q|DYSF_ENST00000410041.1_Silent_p.Q982Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	964					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGGAGGCCAGTGGATCTACA	0.587																																						ENST00000258104.3											0			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(2890-2892)caG>caA	dysferlin						55	57	56					2																	71797031		2203	4300	6503	SO:0001819	synonymous_variant	8291				cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71797031G>A	AF075575	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636	ENSG00000135636	ENSG00000135636				3097	3097	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fer-1-like family member 1"	"fer-1-like family member 1"	603009	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	8320700	Standard	Standard	NM_003494	NM_003494		Approved	FER1L1	uc010fen.3	uc010fen.3	O75923	O75923	OTTHUMG00000129757	OTTHUMG00000129757	ENST00000258104.3:c.2892G>A	2.37:g.71797031G>A			DYSF_ENST00000409366.1_Silent_p.Q965Q|DYSF_ENST00000409762.1_Silent_p.Q981Q|DYSF_ENST00000394120.2_Silent_p.Q965Q|DYSF_ENST00000409651.1_Silent_p.Q996Q|DYSF_ENST00000409744.1_Silent_p.Q951Q|DYSF_ENST00000409582.3_Silent_p.Q981Q|DYSF_ENST00000413539.2_Silent_p.Q995Q|DYSF_ENST00000410041.1_Silent_p.Q982Q|DYSF_ENST00000410020.3_Silent_p.Q982Q|DYSF_ENST00000429174.2_Silent_p.Q964Q	p.Q964Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			27	3169	+			964		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.2892G>A	CCDS1918.1																																																																																									0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		-4.721883	-8	-8	75	75	NM_003494		5	8.718728	8.718728	65	0.071429	0	0	0	1	0	5	65	0.071429	A	71797031	G	A	71797031	2	1	75	1	0	0	0	0	0	0	0	1	4859	1020	36	3		3	DYSF	2	71797031	Silent	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		71797031	171402342	3	1407											
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95	92	93					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		69.346191	-11	-11	44	44			22	69.418623	69.418623	26	0.458333	0	0	0	1	0	22	26	0.458333	T	198267483	C	T	198267483	3	4	75	1	0	0	0	0	1	0	0	0	14149	536	19	1	2088	1	SF3B1	2	198267483	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	126470452	198267483	44931890	4	1408											
ABCA12	26154	broad.mit.edu	37	2	215865502	215865502	+	Missense_Mutation	SNP	G	G	C			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:215865502G>C	ENST00000272895.7	-	22	3325	c.3106C>G	c.(3106-3108)Caa>Gaa	p.Q1036E	ABCA12_ENST00000389661.4_Missense_Mutation_p.Q718E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1036					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTCCAGTTTGCAATTCAATG	0.428																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7											0			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(3106-3108)Caa>Gaa	ATP-binding cassette, sub-family A (ABC1), member 12						124	130	128					2																	215865502		2203	4300	6503	SO:0001583	missense	26154			cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215865502G>C	AF418105	AF418105	CCDS33372.1, CCDS33373.1	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			2012-03-14			ENSG00000144452	ENSG00000144452	ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	"ATP binding cassette transporters / subfamily A"	14637	14637	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607800	607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	11435397, 12915478, 8845852, 10094194	Standard	Standard	NM_015657	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	uc002vew.3	Q86UK0	Q86UK0	OTTHUMG00000154801	OTTHUMG00000154801	ENST00000272895.7:c.3106C>G	2.37:g.215865502G>C	ENSP00000272895:p.Gln1036Glu		ABCA12_ENST00000389661.4_Missense_Mutation_p.Q718E	p.Q1036E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	22	3325	-		Renal(323;0.127)	1036		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3106C>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972598	0.53614	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95518	-3.73;-3.73	5.73	4.85	0.62838	5.73	4.85	0.62838	.	0.087482	0.49916	D	0.000121	D	0.95762	0.8621	M	0.85197	2.74	0.80722	D	1	P;B	0.40431	0.717;0.237	B;B	0.40534	0.332;0.272	D	0.95485	0.8564	10	0.59425	D	0.04	.	16.2693	0.82607	0.0:0.0:0.8666:0.1333	.	1036;718	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	E	1036;718	ENSP00000272895:Q1036E;ENSP00000374312:Q718E	ENSP00000272895:Q1036E	Q	-	1	0	0	ABCA12	215573747	215573747	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.530000	0.73816	1.393000	0.46605	0.555000	0.69702	CAA		0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		166.742415	15	15	136	136	NM_173076		53	167.053934	167.053934	66	0.445378	0	0	0	1	0	53	66	0.445378	C	215865502	G	C	215865502	3	2	75	1	0	0	0	0	1	0	0	0	30	1328	46	5	4809	5	ABCA12	2	215865502	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08	17598019	215865502	27333871	5	1409											
TRAF3IP1	26146	broad.mit.edu	37	2	239237343	239237343	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr2:239237343C>T	ENST00000373327.4	+	4	593	c.371C>T	c.(370-372)gCg>gTg	p.A124V	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.A124V|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.A124V	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	124	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AGTGACGATGCGGTGCGGAGG	0.468																																						ENST00000373327.4											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23						c.(370-372)gCg>gTg	TNF receptor-associated factor 3 interacting protein 1						81	82	82					2																	239237343		2203	4300	6503	SO:0001583	missense	26146				cytoplasm|cytoskeleton	protein binding	g.chr2:239237343C>T	AF230877	AF230877	CCDS33415.1, CCDS46557.1	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			2014-02-21			ENSG00000204104	ENSG00000204104	ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	"Intraflagellar transport homologs"	17861	17861	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	"microtubule interacting protein that associates with TRAF3"	607380	607380						10791955, 12935900	10791955, 12935900	Standard	Standard	NM_015650	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	uc002vye.3	Q8TDR0	Q8TDR0	OTTHUMG00000152872	OTTHUMG00000152872	ENST00000373327.4:c.371C>T	2.37:g.239237343C>T	ENSP00000362424:p.Ala124Val		TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.A124V|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.A124V	p.A124V	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	4	593	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	124	Abolishes microtubules-binding when missing.	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.371C>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752655	0.69533	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.19394	2.15;2.15;2.15	4.65	4.65	0.58169	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57694	-0.7767	10	0.66056	D	0.02	-36.9431	17.9082	0.88926	0.0:1.0:0.0:0.0	.	124;124	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	V	124	ENSP00000375851:A124V;ENSP00000362424:A124V;ENSP00000375852:A124V	ENSP00000362424:A124V	A	+	2	0	0	TRAF3IP1	238902082	238902082	1.000000	0.71417	0.120000	0.21714	0.092000	0.18411	5.967000	0.70403	2.301000	0.77427	0.655000	0.94253	GCG		0.468	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1		-2.614611	8	8	57	57	NM_015650		3	6.688463	6.688463	44	0.06383	0	0	0	1	0	3	44	0.06383	T	239237343	C	T	239237343	3	4	75	1	0	0	0	0	1	0	0	0	16437	768	27	1	385	1	TRAF3IP1	2	239237343	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	23371841	239237343	3962030	6	1410											
CACNA1D	776	broad.mit.edu	37	3	53796064	53796064	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr3:53796064A>T	ENST00000350061.5	+	30	4337	c.3826A>T	c.(3826-3828)Atc>Ttc	p.I1276F	CACNA1D_ENST00000288139.4_Missense_Mutation_p.I1296F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1276F|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I183F	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1276					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGACTCCCTCATCGTAATCGG	0.552																																						ENST00000288139.4											0			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3886-3888)Atc>Ttc	calcium channel, voltage-dependent, L type, alpha 1D subunit						174	138	150					3																	53796064		2203	4300	6503	SO:0001583	missense	776			axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53796064A>T	AB209171	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			2012-03-07			ENSG00000157388	ENSG00000157388	ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	1391	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114206	114206		CCHL1A2, CACNL1A2		CCHL1A2, CACNL1A2		1664412	1664412	Standard	Standard	NM_000720	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	uc003dgu.5	Q01668	Q01668	OTTHUMG00000158278	OTTHUMG00000158278	ENST00000350061.5:c.3826A>T	3.37:g.53796064A>T	ENSP00000288133:p.Ile1276Phe		CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1276F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1276F|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I183F	p.I1296F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	31	4004	+					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3886A>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407489	0.83230	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000540742	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	5.59	5.59	0.84812	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	H	0.94771	3.58	0.80722	D	1	D;P;D;D	0.64830	0.994;0.818;0.99;0.974	D;P;D;D	0.69654	0.965;0.776;0.936;0.913	D	0.99253	1.0888	10	0.87932	D	0	.	11.1717	0.48575	0.9283:0.0:0.0717:0.0	.	1276;183;1276;1296	B0FYA3;F5H313;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	F	1276;1296;1276;183	ENSP00000288133:I1276F;ENSP00000288139:I1296F;ENSP00000409174:I1276F;ENSP00000438229:I183F	ENSP00000288139:I1296F	I	+	1	0	0	CACNA1D	53771104	53771104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.859000	0.69539	2.254000	0.74563	0.459000	0.35465	ATC		0.552	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		103.522898	-5	-5	113	113	NM_000720		37	108.47653	108.47653	90	0.291339	0	0	0	1	0	37	90	0.291339	T	53796064	A	T	53796064	3	4	75	1	0	0	0	0	1	0	0	0	2541	217	8	5	4116	5	CACNA1D	3	53796064	Missense_Mutation	SNP	A	TCGA-WC-AA9E-01A-11D-A39W-08		53796064	144226366	7	1411											
LPHN3	23284	broad.mit.edu	37	4	62599230	62599230	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr4:62599230G>A	ENST00000514591.1	+	7	1482	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	LPHN3_ENST00000506746.1_Missense_Mutation_p.V453M|LPHN3_ENST00000508946.1_Missense_Mutation_p.V385M|LPHN3_ENST00000514157.1_Missense_Mutation_p.V385M|LPHN3_ENST00000507164.1_Missense_Mutation_p.V453M|LPHN3_ENST00000507625.1_Missense_Mutation_p.V453M|LPHN3_ENST00000508693.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506700.1_Missense_Mutation_p.V385M|LPHN3_ENST00000512091.2_Missense_Mutation_p.V385M|LPHN3_ENST00000504896.1_Missense_Mutation_p.V385M|LPHN3_ENST00000511324.1_Missense_Mutation_p.V453M|LPHN3_ENST00000514996.1_Missense_Mutation_p.V385M|LPHN3_ENST00000506720.1_Missense_Mutation_p.V453M|LPHN3_ENST00000545650.1_Missense_Mutation_p.V385M|LPHN3_ENST00000509896.1_Missense_Mutation_p.V453M			Q9HAR2	LPHN3_HUMAN	latrophilin 3	385	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTATCACGTCGTGAAATATTC	0.393																																						ENST00000512091.2											0			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1153-1155)Gtg>Atg	latrophilin 3						52	47	48					4																	62599230		1838	4095	5933	SO:0001583	missense	23284			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599230G>A	AB018311	AB018311	CCDS54768.1	CCDS54768.1	4q13.1	2014-08-08			2014-08-08				ENSG00000150471		ENSG00000150471		"-", "GPCR / Class B : Orphans"	"-", "GPCR / Class B : Orphans"	20974	20974	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10994649	10994649	Standard	Standard	NM_015236	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	uc010ihh.3	Q9HAR2	Q9HAR2			ENST00000514591.1:c.1153G>A	4.37:g.62599230G>A	ENSP00000422533:p.Val385Met		LPHN3_ENST00000514591.1_Missense_Mutation_p.V385M|LPHN3_ENST00000508946.1_Missense_Mutation_p.V385M|LPHN3_ENST00000545650.1_Missense_Mutation_p.V385M|LPHN3_ENST00000504896.1_Missense_Mutation_p.V385M|LPHN3_ENST00000507625.1_Missense_Mutation_p.V453M|LPHN3_ENST00000509896.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506746.1_Missense_Mutation_p.V453M|LPHN3_ENST00000514157.1_Missense_Mutation_p.V385M|LPHN3_ENST00000506720.1_Missense_Mutation_p.V453M|LPHN3_ENST00000511324.1_Missense_Mutation_p.V453M|LPHN3_ENST00000507164.1_Missense_Mutation_p.V453M|LPHN3_ENST00000508693.1_Missense_Mutation_p.V453M|LPHN3_ENST00000506700.1_Missense_Mutation_p.V385M|LPHN3_ENST00000514996.1_Missense_Mutation_p.V385M	p.V385M			Q9HAR2	LPHN3_HUMAN			7	1900	+				Olfactomedin-like.	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1153G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904395	0.52333	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	5.31	5.31	0.75309	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93592	0.7954	L	0.55834	1.745	0.48040	D	0.999579	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.991	D	0.93887	0.7176	10	0.72032	D	0.01	.	13.6671	0.62403	0.0:0.1549:0.8451:0.0	.	385;453;385	E9PE04;E7EN28;Q9HAR2-2	.;.;.	M	385;385;453;453;385;385;385;385;385;453;453;453;385;385;385;453;453;385	ENSP00000423388:V385M;ENSP00000422533:V385M;ENSP00000423787:V453M;ENSP00000425033:V453M;ENSP00000424120:V385M;ENSP00000439831:V385M;ENSP00000421476:V453M;ENSP00000424030:V453M;ENSP00000421372:V453M;ENSP00000425201:V385M;ENSP00000423434:V385M;ENSP00000421627:V385M;ENSP00000420931:V453M;ENSP00000425884:V453M;ENSP00000424258:V385M	ENSP00000280009:V385M	V	+	1	0	0	LPHN3	62281825	62281825	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.513000	0.81739	2.471000	0.83476	0.557000	0.71058	GTG		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		25.162415	-8	-8	19	19			9	26.383624	26.383624	22	0.290323	0	0	0	1	0	9	22	0.290323	A	62599230	G	A	62599230	3	1	75	1	0	0	0	0	1	0	0	0	8917	1145	40	1	1171	1	LPHN3	4	62599230	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		62599230	128555046	8	1412											
OCLN	100506658	broad.mit.edu	37	5	68809848	68809848	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr5:68809848G>A	ENST00000355237.2	+	4	1239	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	OCLN_ENST00000380766.2_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Missense_Mutation_p.R17Q|OCLN_ENST00000396442.2_Missense_Mutation_p.R268Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	268	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTGAAAACTCGAAGAAAGATG	0.398																																						ENST00000355237.2											0			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(802-804)cGa>cAa	occludin						116	110	112					5																	68809848		2203	4300	6503	SO:0001583	missense	100506658			cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68809848G>A	U49184	U49184	CCDS4006.1, CCDS54864.1	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			2014-06-13			ENSG00000197822	ENSG00000197822	ENSG00000197822	ENSG00000197822				8104	8104	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876	602876						8601611	8601611	Standard	Standard	NM_002538	NM_002538		Approved	PPP1R115	uc003jwu.3	uc003jwu.3	Q16625	Q16625	OTTHUMG00000099356	OTTHUMG00000099356	ENST00000355237.2:c.803G>A	5.37:g.68809848G>A	ENSP00000347379:p.Arg268Gln		OCLN_ENST00000380766.2_Intron|OCLN_ENST00000538151.1_Missense_Mutation_p.R17Q|OCLN_ENST00000396442.2_Missense_Mutation_p.R268Q|OCLN_ENST00000542132.1_Intron	p.R268Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	1239	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	268	MARVEL.	B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.803G>A	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110377	0.94292	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000538151	T;T	0.60920	0.15;0.15	5.84	4.97	0.65823	5.84	4.97	0.65823	Marvel (1);	0.059384	0.64402	N	0.000001	T	0.77315	0.4112	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81212	-0.1035	10	0.87932	D	0	-23.569	13.9828	0.64315	0.0741:0.0:0.9259:0.0	.	268	Q16625	OCLN_HUMAN	Q	268;268;17	ENSP00000347379:R268Q;ENSP00000379719:R268Q	ENSP00000347379:R268Q	R	+	2	0	0	OCLN	68845604	68845604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.407000	0.97325	1.472000	0.48140	0.591000	0.81541	CGA		0.398	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1		61.189517	15	15	71	71	NM_002538		20	61.795845	61.795845	32	0.384615	0	0	0	1	0	20	32	0.384615	A	68809848	G	A	68809848	3	1	75	1	0	0	0	0	1	0	0	0	10820	1058	37	1	813	1	OCLN	5	68809848	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		68809848	112105412	9	1413											
MGAT4B	11282	broad.mit.edu	37	5	179226505	179226505	+	Splice_Site	SNP	C	C	T	rs112845536		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr5:179226505C>T	ENST00000292591.7	-	9	1392		c.e9+1		MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000521305.1_5'Flank|MGAT4B_ENST00000337755.5_Splice_Site	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTGCTCACCGCATCCTTC	0.577																																					GBM(13;414 434 4098 22176 23230)	ENST00000337755.5											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.e8+1	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						66	66	66					5																	179226505		2203	4300	6503	SO:0001630	splice_region_variant	11282			N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179226505C>T	AB000624	AB000624	CCDS4448.1, CCDS4449.1	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	ENSG00000161013	ENSG00000161013	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7048	7048	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604561	604561	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"		"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"			10372966	10372966	Standard	Standard	NM_014275	NM_014275		Approved	GnT-Ivb	uc003mks.3	uc003mks.3	Q9UQ53	Q9UQ53	OTTHUMG00000130912	OTTHUMG00000130912	ENST00000292591.7:c.1041+1G>A	5.37:g.179226505C>T			MGAT4B_ENST00000292591.7_Splice_Site		NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1973	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)			A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Splice_Site	SNP	ENST00000292591.7	37		CCDS4448.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.817544	0.50633	.	.	ENSG00000161013	ENST00000518778;ENST00000337755;ENST00000292591;ENST00000520969;ENST00000520875;ENST00000518867	.	.	.	3.88	3.88	0.44766	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0447	0.80711	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	MGAT4B	179159111	179159111	1.000000	0.71417	0.986000	0.45419	0.573000	0.36030	7.590000	0.82653	1.993000	0.58246	0.561000	0.74099	.		0.577	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3		42.412661	15	15	62	62	NM_014275	Intron	15	42.703289	42.703289	22	0.405405	0	0	0	1	0	15	22	0.405405	T	179226505	C	T	179226505	5	4	75	1	0	0	0	0	0	0	1	0	9546	521	18	3	632	3	MGAT4B	5	179226505	Splice_Site	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	110416657	179226505	1688755	10	1414											
LRFN2	57497	broad.mit.edu	37	6	40400440	40400440	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr6:40400440C>T	ENST00000338305.6	-	2	955	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	138						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTGCGATGCCGCCCAGCTG	0.597																																						ENST00000338305.6											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(412-414)gGc>gAc	leucine rich repeat and fibronectin type III domain containing 2						64	59	61					6																	40400440		2203	4300	6503	SO:0001583	missense	57497				cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400440C>T	AB033072	AB033072	CCDS34443.1	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	21226	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	612808	"KIAA1246"	KIAA1246, SALM1	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	16495444, 16828986	Standard	Standard	NM_020737	NM_020737		Approved	FIGLER2	uc003oph.1	uc003oph.1	Q9ULH4	Q9ULH4	OTTHUMG00000014662	OTTHUMG00000014662	ENST00000338305.6:c.413G>A	6.37:g.40400440C>T	ENSP00000345985:p.Gly138Asp			p.G138D	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	955	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		138		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.413G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	9.341	1.062997	0.19987	.	.	ENSG00000156564	ENST00000338305	T	0.02737	4.18	5.76	2.45	0.29901	5.76	2.45	0.29901	.	0.365256	0.34603	N	0.003827	T	0.00608	0.0020	N	0.13299	0.325	0.32623	N	0.523012	B	0.02656	0.0	B	0.04013	0.001	T	0.45071	-0.9286	10	0.11485	T	0.65	.	11.0243	0.47736	0.0:0.6776:0.245:0.0773	.	138	Q9ULH4	LRFN2_HUMAN	D	138	ENSP00000345985:G138D	ENSP00000345985:G138D	G	-	2	0	0	LRFN2	40508418	40508418	0.396000	0.25262	0.995000	0.50966	0.832000	0.47134	0.911000	0.28584	0.736000	0.32559	0.655000	0.94253	GGC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1		-8.517509	-21	-21	28	28	XM_166372		3	6.315429	6.315429	64	0.044776	0	0	0	1	0	3	64	0.044776	T	40400440	C	T	40400440	3	4	75	1	0	0	0	0	1	0	0	0	8938	739	26	2	1964	2	LRFN2	6	40400440	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		40400440	130714627	11	1415											
CSMD3	114788	broad.mit.edu	37	8	113585861	113585861	+	Missense_Mutation	SNP	G	G	C	rs143652338		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr8:113585861G>C	ENST00000297405.5	-	24	4155	c.3911C>G	c.(3910-3912)aCt>aGt	p.T1304S	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1264S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1200S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1304S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1304	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGTAGATGAGTCGTTTTATC	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5											0			breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3910-3912)aCt>aGt	CUB and Sushi multiple domains 3	G	SER/THR,SER/THR,SER/THR	0,4406		0,0,2203	98	97	98		3599,3911,3791	4.8	1	8	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	58,58,58	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign,benign	1200/3539,1304/3708,1264/3668	113585861	1,13005	2203	4300	6503	SO:0001583	missense	114788				integral to membrane|plasma membrane		g.chr8:113585861G>C	AY210419	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			2007-01-06			ENSG00000164796	ENSG00000164796	ENSG00000164796	ENSG00000164796				19291	19291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608399	608399								Standard	Standard	NM_052900	NM_052900		Approved		uc003ynu.3	uc003ynu.3	Q7Z407	Q7Z407	OTTHUMG00000157027	OTTHUMG00000157027	ENST00000297405.5:c.3911C>G	8.37:g.113585861G>C	ENSP00000297405:p.Thr1304Ser		CSMD3_ENST00000455883.2_Missense_Mutation_p.T1200S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1264S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1304S	p.T1304S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			24	4155	-			1304	CUB 7.	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3911C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928516	0.34002	0.0	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	4.85	4.85	0.62838	4.85	4.85	0.62838	CUB (5);	0.079522	0.53938	D	0.000058	T	0.06735	0.0172	N	0.00133	-2.03	0.38516	D	0.948603	B;B;B	0.21688	0.059;0.03;0.0	B;B;B	0.23018	0.042;0.043;0.002	T	0.36720	-0.9736	10	0.08837	T	0.75	.	18.1525	0.89678	0.0:0.0:1.0:0.0	.	1200;1304;1264	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1264;1304;644;1200;1304	ENSP00000345799:T1264S;ENSP00000297405:T1304S;ENSP00000341558:T644S;ENSP00000412263:T1200S;ENSP00000343124:T1304S	ENSP00000297405:T1304S	T	-	2	0	0	CSMD3	113655037	113655037	1.000000	0.71417	0.985000	0.45067	0.930000	0.56654	9.411000	0.97342	2.496000	0.84212	0.591000	0.81541	ACT		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		37.202915	13	13	90	90	NM_052900		20	55.113244	55.113244	123	0.13986	0	0	0	1	0	20	123	0.13986	C	113585861	G	C	113585861	3	2	75	1	0	0	0	0	1	0	0	0	3946	1029	36	5	7404	5	CSMD3	8	113585861	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		113585861	32778161	12	1416											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		118.938182	9	9	121	121	NM_002072		38	119.191543	119.191543	48	0.44186	0	0	0	1	0	38	48	0.44186	A	80409488	T	A	80409488	3	1	75	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-WC-AA9E-01A-11D-A39W-08		80409488	60803943	13	1417											
PANK1	53354	broad.mit.edu	37	10	91404916	91404916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr10:91404916delC	ENST00000307534.4	-	1	299	c.144delG	c.(142-144)gggfs	p.G48fs	RP11-80H5.6_ENST00000428166.1_lincRNA|PANK1_ENST00000342512.3_5'Flank|PANK1_ENST00000488482.1_5'Flank|PANK1_ENST00000371774.2_5'Flank|PANK1_ENST00000322191.6_5'Flank|RP11-80H5.2_ENST00000454174.1_RNA|RP11-80H5.2_ENST00000451733.1_RNA	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	48					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TCCCCGCGCACCCCCAGCCGG	0.786																																						ENST00000307534.4											0			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(142-144)gggfs	pantothenate kinase 1						3	4	4					10																	91404916		1257	2904	4161	SO:0001589	frameshift_variant	53354			coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91404916delC	AF355198	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782	ENSG00000152782	ENSG00000152782				8598	8598	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606160	606160	"pantothenate kinase"	PANK	"pantothenate kinase"	PANK		11809413	11809413	Standard	Standard	NM_148977	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	uc001kgp.2	Q8TE04	Q8TE04	OTTHUMG00000018718	OTTHUMG00000018718	ENST00000307534.4:c.144delG	10.37:g.91404916delC	ENSP00000302108:p.Gly48fs			p.G48fs	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			1	299	-			48		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Frame_Shift_Del	DEL	ENST00000307534.4	37	c.144delG	CCDS31244.1																																																																																									0.786	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		.	.	-4	-4	6	6			5			2	0.71						5	2	0.71	-	91404916	C	-	91404916	7	5	75	1	0	1	0	1	0	0	0	0	11416	494	18	0	1712	0	PANK1	10	91404916	Frame_Shift_Del	DEL	C	TCGA-WC-AA9E-01A-11D-A39W-08		91404916	44129831	14	1418											
ARHGEF17	9828	broad.mit.edu	37	11	73073583	73073583	+	Silent	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr11:73073583G>A	ENST00000263674.3	+	14	5150	c.4800G>A	c.(4798-4800)gcG>gcA	p.A1600A		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1600					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGACGCTCGCGGAGCCGGGGC	0.731																																						ENST00000263674.3											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4798-4800)gcG>gcA	Rho guanine nucleotide exchange factor (GEF) 17						10	16	14					11																	73073583		2161	4247	6408	SO:0001819	synonymous_variant	9828			actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73073583G>A	AF378754	AF378754	CCDS8221.1	CCDS8221.1	11q13.3	2011-11-16			2011-11-16			ENSG00000110237	ENSG00000110237	ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	"Rho guanine nucleotide exchange factors"	21726	21726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"								11559528, 12071859	11559528, 12071859	Standard	Standard	NM_014786	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	uc001otu.3	Q96PE2	Q96PE2	OTTHUMG00000167971	OTTHUMG00000167971	ENST00000263674.3:c.4800G>A	11.37:g.73073583G>A				p.A1600A	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			14	5150	+			1600		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.4800G>A	CCDS8221.1																																																																																									0.731	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		22.690451	-6	-6	24	24	NM_014786		8	23.54748	23.54748	18	0.307692	0	0	0	1	0	8	18	0.307692	A	73073583	G	A	73073583	2	1	75	1	0	0	0	0	0	0	0	1	900	1103	39	1		1	ARHGEF17	11	73073583	Silent	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		73073583	61932933	15	1419											
MCRS1	10445	broad.mit.edu	37	12	49959401	49959401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr12:49959401delC	ENST00000550165.1	-	5	465	c.199delG	c.(199-201)gcafs	p.A67fs	MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000357123.4_Frame_Shift_Del_p.A80fs|MCRS1_ENST00000343810.4_Frame_Shift_Del_p.A67fs|MCRS1_ENST00000547182.1_5'Flank			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	67	Ser-rich.				cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GAAGATTTTGCCAGGCTGCTC	0.562																																						ENST00000550165.1											0			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						c.(199-201)gcafs	microspherule protein 1						153	162	159					12																	49959401		2203	4300	6503	SO:0001589	frameshift_variant	10445			DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49959401delC	BC011794	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06			2011-07-06				ENSG00000187778		ENSG00000187778		"INO80 complex subunits"	"INO80 complex subunits"	6960	6960	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"INO80 complex subunit Q"	"INO80 complex subunit Q"	609504	609504						9765390, 9654073	9765390, 9654073	Standard	Standard	NM_006337	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	uc001rui.1	Q96EZ8	Q96EZ8			ENST00000550165.1:c.199delG	12.37:g.49959401delC	ENSP00000448056:p.Ala67fs		MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000357123.4_Frame_Shift_Del_p.A80fs|MCRS1_ENST00000343810.4_Frame_Shift_Del_p.A67fs	p.A67fs			Q96EZ8	MCRS1_HUMAN			5	465	-			67	Ser-rich.	O14742|O75497|Q6VN53|Q7Z372	Frame_Shift_Del	DEL	ENST00000550165.1	37	c.199delG	CCDS8787.1																																																																																									0.562	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	.	.	3	3	176	176	NM_006337		67			113	0.37						67	113	0.37	-	49959401	C	-	49959401	7	5	75	1	0	1	0	1	0	0	0	0	9399	739	26	0	1237	0	MCRS1	12	49959401	Frame_Shift_Del	DEL	C	TCGA-WC-AA9E-01A-11D-A39W-08		49959401	83892494	16	1420											
OR6C75	390323	broad.mit.edu	37	12	55759765	55759765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr12:55759765A>T	ENST00000343399.3	+	1	871	c.871A>T	c.(871-873)Aga>Tga	p.R291*		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATACACACTGAGAAATAAGCA	0.393																																						ENST00000343399.3											0			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(871-873)Aga>Tga	olfactory receptor, family 6, subfamily C, member 75						69	64	66					12																	55759765		2203	4300	6503	SO:0001587	stop_gained	390323			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759765A>T			CCDS31820.1	CCDS31820.1	12q13.2	2013-09-23			2013-09-23			ENSG00000187857	ENSG00000187857	ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	31304	31304	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001005497	NM_001005497		Approved		uc010spk.2	uc010spk.2	A6NL08	A6NL08	OTTHUMG00000169886	OTTHUMG00000169886	ENST00000343399.3:c.871A>T	12.37:g.55759765A>T	ENSP00000368987:p.Arg291*			p.R291*	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	871	+			291			Nonsense_Mutation	SNP	ENST00000343399.3	37	c.871A>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	a	13.23	2.174605	0.38413	.	.	ENSG00000187857	ENST00000343399	.	.	.	5.22	1.32	0.21799	5.22	1.32	0.21799	.	0.000000	0.47455	U	0.000236	.	.	.	.	.	.	0.48571	D	0.999672	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7292	0.62776	0.4857:0.5143:0.0:0.0	.	.	.	.	X	291	.	ENSP00000368987:R291X	R	+	1	2	2	OR6C75	54046032	54046032	0.996000	0.38824	0.059000	0.19551	0.298000	0.27526	2.792000	0.47837	0.069000	0.16605	0.515000	0.50301	AGA		0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		-8.732681	11	11	78	78			3	6.394842	6.394842	65	0.044118	0	0	0	1	0	3	65	0.044118	T	55759765	A	T	55759765	4	4	75	1	0	0	0	0	0	1	0	0	11199	296	11	5	873	5	OR6C75	12	55759765	Nonsense_Mutation	SNP	A	TCGA-WC-AA9E-01A-11D-A39W-08	5800364	55759765	78092130	17	1421											
CSNK1A1L	122011	broad.mit.edu	37	13	37678549	37678549	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr13:37678549C>T	ENST00000379800.3	-	1	1254	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GAAAAGAATGCGGAATAGCTG	0.488																																						ENST00000379800.3											0			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(844-846)cGc>cAc	casein kinase 1, alpha 1-like						167	153	158					13																	37678549		2203	4300	6503	SO:0001583	missense	122011			Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678549C>T	BC028723	BC028723	CCDS9363.1	CCDS9363.1	13q13.2	2008-02-05			2008-02-05			ENSG00000180138	ENSG00000180138	ENSG00000180138	ENSG00000180138				20289	20289	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_145203	NM_145203		Approved	MGC33182	uc001uwm.1	uc001uwm.1	Q8N752	Q8N752	OTTHUMG00000016748	OTTHUMG00000016748	ENST00000379800.3:c.845G>A	13.37:g.37678549C>T	ENSP00000369126:p.Arg282His			p.R282H	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	1254	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	282	Protein kinase.	Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.845G>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769340	0.49680	.	.	ENSG00000180138	ENST00000379800	T	0.10288	2.89	1.74	1.74	0.24563	1.74	1.74	0.24563	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	M	0.87682	2.9	0.50813	D	0.999897	P	0.35468	0.503	B	0.24974	0.057	T	0.08006	-1.0743	10	0.62326	D	0.03	.	9.4321	0.38617	0.0:1.0:0.0:0.0	.	282	Q8N752	KC1AL_HUMAN	H	282	ENSP00000369126:R282H	ENSP00000369126:R282H	R	-	2	0	0	CSNK1A1L	36576549	36576549	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.054000	0.41335	0.871000	0.35750	0.561000	0.74099	CGC		0.488	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1		-6.229331	-2	-2	136	136	NM_145203		6	12.650106	12.650106	89	0.063158	0	0	0	1	0	6	89	0.063158	T	37678549	C	T	37678549	3	4	75	1	0	0	0	0	1	0	0	0	3951	768	27	1	172	1	CSNK1A1L	13	37678549	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		37678549	77491329	18	1422											
MBNL2	10150	broad.mit.edu	37	13	97986550	97986550	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr13:97986550C>G	ENST00000376673.3	+	3	976	c.195C>G	c.(193-195)aaC>aaG	p.N65K	MBNL2_ENST00000345429.6_Missense_Mutation_p.N65K|MBNL2_ENST00000397601.1_Missense_Mutation_p.N65K|MBNL2_ENST00000343600.4_Missense_Mutation_p.N65K|MBNL2_ENST00000445661.2_Missense_Mutation_p.N65K			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	65					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CGAGAGAGAACTGCAAGTATC	0.398																																						ENST00000345429.6											0			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(193-195)aaC>aaG	muscleblind-like splicing regulator 2						77	73	74					13																	97986550		2203	4300	6503	SO:0001583	missense	10150			mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97986550C>G	AF061261	AF061261	CCDS9483.1, CCDS9484.1	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793	ENSG00000139793	ENSG00000139793		"Zinc fingers, CCCH-type domain containing"	"Zinc fingers, CCCH-type domain containing"	16746	16746	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607327	607327	"muscleblind-like 2 (Drosophila)"		"muscleblind-like 2 (Drosophila)"			11929853	11929853	Standard	Standard	NM_207304	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	uc001vmz.4	Q5VZF2	Q5VZF2	OTTHUMG00000017239	OTTHUMG00000017239	ENST00000376673.3:c.195C>G	13.37:g.97986550C>G	ENSP00000365861:p.Asn65Lys		MBNL2_ENST00000445661.2_Missense_Mutation_p.N65K|MBNL2_ENST00000376673.3_Missense_Mutation_p.N65K|MBNL2_ENST00000343600.4_Missense_Mutation_p.N65K|MBNL2_ENST00000397601.1_Missense_Mutation_p.N65K	p.N65K	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		3	976	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		65		Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37	c.195C>G		.	.	.	.	.	.	.	.	.	.	C	13.84	2.357725	0.41801	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673;ENST00000445661	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.88	5.03	0.67393	5.88	5.03	0.67393	Zinc finger, CCCH-type (2);	0.089398	0.85682	D	0.000000	T	0.49372	0.1553	L	0.28649	0.875	0.41617	D	0.988941	D;B;B;P	0.61080	0.989;0.032;0.007;0.865	D;B;B;P	0.68483	0.958;0.057;0.035;0.799	T	0.39722	-0.9600	10	0.41790	T	0.15	.	12.711	0.57089	0.0:0.8707:0.0:0.1293	.	65;65;65;65	B4E3F7;Q5VZF2;A2A3S3;Q5VZF2-2	.;MBNL2_HUMAN;.;.	K	65	ENSP00000380726:N65K;ENSP00000344214:N65K;ENSP00000267287:N65K;ENSP00000365861:N65K;ENSP00000406842:N65K	ENSP00000344214:N65K	N	+	3	2	2	MBNL2	96784551	96784551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.191000	0.42640	2.805000	0.96524	0.551000	0.68910	AAC		0.398	MBNL2-202	KNOWN	basic	protein_coding	protein_coding			-3.318080	-2	-2	66	66	NM_144778		3	7.078099	7.078099	48	0.058824	0	0	0	1	0	3	48	0.058824	G	97986550	C	G	97986550	3	3	75	1	0	0	0	0	1	0	0	0	9354	564	20	5	201	5	MBNL2	13	97986550	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	60308001	97986550	17183328	19	1423											
SAP30BP	29115	broad.mit.edu	37	17	73695881	73695881	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr17:73695881T>C	ENST00000584667.1	+	5	583	c.326T>C	c.(325-327)gTt>gCt	p.V109A	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.V93A	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTGAAAGAGTTCGGAACATG	0.453																																						ENST00000584667.1											0			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17						c.(325-327)gTt>gCt	SAP30 binding protein						123	135	131					17																	73695881		2203	4300	6503	SO:0001583	missense	29115			apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73695881T>C	AY082382	AY082382	CCDS11726.1	CCDS11726.1	17q25.1	2006-01-05			2006-01-05				ENSG00000161526		ENSG00000161526				30785	30785	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610218	610218						15496587	15496587	Standard	Standard	NM_013260	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	uc002jpe.3	Q9UHR5	Q9UHR5			ENST00000584667.1:c.326T>C	17.37:g.73695881T>C	ENSP00000462116:p.Val109Ala		SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.V93A	p.V109A	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	583	+	all_cancers(13;6.42e-08)		109			Missense_Mutation	SNP	ENST00000584667.1	37	c.326T>C	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898561	0.72639	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.59436	1.845	0.80722	D	1	P;B	0.36837	0.571;0.435	B;B	0.39027	0.288;0.104	T	0.52056	-0.8626	9	0.08179	T	0.78	0.2873	15.7741	0.78198	0.0:0.0:0.0:1.0	.	93;109	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	A	109;109;93	.	ENSP00000293208:V93A	V	+	2	0	0	SAP30BP	71207476	71207476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.111000	0.64477	0.533000	0.62120	GTT		0.453	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1		-9.440121	-25	-25	139	139	NM_013260		9	20.644623	20.644623	140	0.060403	0	0	0	1	0	9	140	0.060403	C	73695881	T	C	73695881	3	2	75	1	0	0	0	0	1	0	0	0	13834	1725	60	4	344	4	SAP30BP	17	73695881	Missense_Mutation	SNP	T	TCGA-WC-AA9E-01A-11D-A39W-08		73695881	7499329	20	1424											
WDR7	23335	broad.mit.edu	37	18	54603067	54603067	+	Silent	SNP	T	T	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr18:54603067T>A	ENST00000254442.3	+	23	3973	c.3762T>A	c.(3760-3762)tcT>tcA	p.S1254S	WDR7_ENST00000357574.3_Silent_p.S1221S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1254					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGGCCCGCTCTGCGAGGCATG	0.527																																						ENST00000254442.3											0			NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3760-3762)tcT>tcA	WD repeat domain 7						84	87	86					18																	54603067		2203	4300	6503	SO:0001819	synonymous_variant	23335						g.chr18:54603067T>A	AB011113	AB011113	CCDS11962.1, CCDS11963.1	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			2013-01-09			ENSG00000091157	ENSG00000091157	ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	"WD repeat domain containing"	13490	13490	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613473	613473						10828621	10828621	Standard	Standard	XM_005266674	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	uc002lgk.1	Q9Y4E6	Q9Y4E6	OTTHUMG00000132721	OTTHUMG00000132721	ENST00000254442.3:c.3762T>A	18.37:g.54603067T>A			WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S1221S	p.S1254S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	23	3973	+			1254		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3762T>A	CCDS11962.1																																																																																									0.527	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		144.178970	-22	-22	103	103			45	144.243044	144.243044	40	0.529412	0	0	0	1	0	45	40	0.529412	A	54603067	T	A	54603067	2	1	75	1	0	0	0	0	0	0	0	1	17317	1567	55	5		5	WDR7	18	54603067	Silent	SNP	T	TCGA-WC-AA9E-01A-11D-A39W-08		54603067	23474181	21	1425											
ATP8B3	148229	ucsc.edu	37	19	1809699	1809699	+	Silent	SNP	G	G	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr19:1809699G>T	ENST00000310127.6	-	4	583	c.345C>A	c.(343-345)gcC>gcA	p.A115A	ATP8B3_ENST00000539485.1_Silent_p.A115A|ATP8B3_ENST00000526092.2_Silent_p.A62A|ATP8B3_ENST00000525591.1_Silent_p.A62A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	115					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGTTGTAGGCACGGTTGT	0.632																																																	0																	55	65	62					19																	1809699		1984	4153	6137	SO:0001819	synonymous_variant	148229							AA827939	AA827939	CCDS45901.1, CCDS54196.1	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270	ENSG00000130270	ENSG00000130270		"ATPases / P-type"	"ATPases / P-type"	13535	13535	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"		"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	11015572	Standard	Standard	NM_138813	NM_138813		Approved	ATPIK	uc002ltw.4	uc002ltw.4	O60423	O60423	OTTHUMG00000166189	OTTHUMG00000166189	ENST00000310127.6:c.345C>A	19.37:g.1809699G>T																		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37		CCDS45901.1	.	.	.	.	.	.	.	.	.	.	g	7.561	0.664698	0.14710	.	.	ENSG00000130270	ENST00000533993	.	.	.	4.44	2.08	0.27032	4.44	2.08	0.27032	.	.	.	.	.	T	0.36963	0.0986	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	T	0.35425	-0.9789	5	0.87932	D	0	.	3.8307	0.08873	0.2731:0.0:0.536:0.1909	.	.	.	.	H	78	.	ENSP00000444334:P78H	P	-	2	0	0	ATP8B3	1760699	1760699	0.331000	0.24713	0.008000	0.14137	0.005000	0.04900	0.548000	0.23314	0.864000	0.35578	0.561000	0.74099	CCT		0.632	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1			17	17	39	39	NM_138813		4			16							4	16		T	1809699	G	T	1809699	2	4	75	1	0	0	0	0	0	0	0	1	1196	987	35	5		5	ATP8B3	19	1809699	Silent	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		1809699	57319284	22	1426											
GNA11	2767	broad.mit.edu	37	19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	0			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(496-498)cGc>cAc	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						92	78	82					19																	3114962		2203	4299	6502	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3114962G>A	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.497G>A	19.37:g.3114962G>A	ENSP00000078429:p.Arg166His			p.R166H	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	4	739	+		Hepatocellular(1079;0.137)	166		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.497G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757625	0.69648	.	.	ENSG00000088256	ENST00000078429	D	0.91996	-2.95	3.62	3.62	0.41486	3.62	3.62	0.41486	G protein alpha subunit, helical insertion (2);	0.000000	0.64402	U	0.000002	D	0.97201	0.9085	H	0.96662	3.86	0.54753	D	0.999989	D	0.89917	1.0	D	0.73708	0.981	D	0.98413	1.0573	10	0.87932	D	0	.	14.2446	0.65981	0.0:0.0:1.0:0.0	.	166	P29992	GNA11_HUMAN	H	166	ENSP00000078429:R166H	ENSP00000078429:R166H	R	+	2	0	0	GNA11	3065962	3065962	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	9.626000	0.98410	1.752000	0.51891	0.556000	0.70494	CGC		0.677	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		-6.224328	-14	-14	95	95	NM_002067		3	6.661241	6.661241	57	0.05	0	0	0	1	0	3	57	0.05	A	3114962	G	A	3114962	3	1	75	1	0	0	0	0	1	0	0	0	6499	1087	38	1	511	1	GNA11	19	3114962	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08	1305263	3114962	56014021	23	1427											
ZNF304	57343	broad.mit.edu	37	19	57868113	57868113	+	Silent	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr19:57868113C>T	ENST00000282286.5	+	3	1049	c.876C>T	c.(874-876)caC>caT	p.H292H	ZNF304_ENST00000443917.2_Silent_p.H339H|ZNF304_ENST00000598744.1_Silent_p.H250H|ZNF304_ENST00000391705.3_Silent_p.H292H			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	292					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(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTCACTTGCACCACCTAAAAA	0.418																																						ENST00000391705.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(874-876)caC>caT	zinc finger protein 304						95	93	94					19																	57868113		2203	4300	6503	SO:0001819	synonymous_variant	57343			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868113C>T	AJ276316	AJ276316	CCDS12950.1, CCDS74462.1	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08			2013-01-08				ENSG00000131845		ENSG00000131845		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	13505	13505	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613840	613840								Standard	Standard	XM_005259090	XM_005259090		Approved		uc010ygw.2	uc010ygw.2	Q9HCX3	Q9HCX3			ENST00000282286.5:c.876C>T	19.37:g.57868113C>T			ZNF304_ENST00000598744.1_Silent_p.H250H|ZNF304_ENST00000443917.2_Silent_p.H339H|ZNF304_ENST00000282286.5_Silent_p.H292H	p.H292H	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1160	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	292			Silent	SNP	ENST00000282286.5	37	c.876C>T	CCDS12950.1																																																																																									0.418	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1		39.700664	6	6	78	78			15	42.100835	42.100835	39	0.277778	0	0	0	1	0	15	39	0.277778	T	57868113	C	T	57868113	2	4	75	1	0	0	0	0	0	0	0	1	17830	506	18	3		3	ZNF304	19	57868113	Silent	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	54753151	57868113	1260870	24	1428											
RTDR1	27156	broad.mit.edu	37	22	23406237	23406237	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chr22:23406237C>T	ENST00000216036.4	-	5	692	c.496G>A	c.(496-498)Gag>Aag	p.E166K		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		166	Poly-Glu.									breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCCTGGAACTCCTCCTCCTCC	0.577																																						ENST00000216036.4											0			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(496-498)Gag>Aag	rhabdoid tumor deletion region gene 1						102	90	94					22																	23406237		2203	4300	6503	SO:0001583	missense	27156					binding	g.chr22:23406237C>T																																																	ENST00000216036.4:c.496G>A	22.37:g.23406237C>T	ENSP00000216036:p.Glu166Lys			p.E166K	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	5	692	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		166	Poly-Glu.		Missense_Mutation	SNP	ENST00000216036.4	37	c.496G>A	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	4.868	0.161359	0.09287	.	.	ENSG00000100218	ENST00000216036	T	0.51325	0.71	.	.	.	.	.	.	Armadillo-like helical (1);Armadillo-type fold (1);	3.549510	0.00508	N	0.000176	T	0.38852	0.1056	L	0.43923	1.385	0.22562	N	0.998982	P	0.46395	0.877	B	0.43360	0.417	T	0.30909	-0.9962	8	0.07813	T	0.8	0.7507	.	.	.	.	166	Q9UHP6	RTDR1_HUMAN	K	166	ENSP00000216036:E166K	ENSP00000216036:E166K	E	-	1	0	0	RTDR1	21736237	21736237	0.011000	0.17503	0.077000	0.20336	0.028000	0.11728	-0.542000	0.06091	0.064000	0.16427	0.064000	0.15345	GAG		0.577	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1		46.690902	-7	-7	39	39			16	47.040996	47.040996	24	0.4	0	0	0	1	0	16	24	0.4	T	23406237	C	T	23406237	3	4	75	1	0	0	0	0	1	0	0	0	13719	864	30	3	562	3	RTDR1	22	23406237	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		23406237	27898329	25	1429											
GAB3	139716	broad.mit.edu	37	X	153908520	153908520	+	Silent	SNP	C	C	T			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	g.chrX:153908520C>T	ENST00000369575.3	-	9	1564	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.E512E	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	511					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGTTCGGTGCTCCTCCTAGG	0.517																																						ENST00000369575.3											0			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1531-1533)gaG>gaA	GRB2-associated binding protein 3						123	113	116					X																	153908520		2203	4300	6503	SO:0001819	synonymous_variant	139716						g.chrX:153908520C>T	AY057989	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			2013-01-10			ENSG00000160219	ENSG00000160219	ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	17515	17515	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482	300482						11739737	11739737	Standard	Standard	XM_005274648	XM_005274648		Approved		uc004fmk.1	uc004fmk.1	Q8WWW8	Q8WWW8	OTTHUMG00000024245	OTTHUMG00000024245	ENST00000369575.3:c.1533G>A	X.37:g.153908520C>T			GAB3_ENST00000424127.2_Silent_p.E512E|GAB3_ENST00000496390.1_5'UTR	p.E511E	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			9	1564	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		511		A6NHF8|E9PB44	Silent	SNP	ENST00000369575.3	37	c.1533G>A	CCDS14760.1																																																																																									0.517	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2		211.806147	-91	-91	48	48	NM_001081573		60	220.521757	220.521757	4	0.9375	0	0	0	1	0	60	4	0.9375	T	153908520	C	T	153908520	2	4	75	1	0	0	0	0	0	0	0	1	6150	796	28	2		2	GAB3	23	153908520	Silent	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		153908520	1362040	26	1430											
FSHR	2492	broad.mit.edu	37	2	49381416	49381416	+	Silent	SNP	A	A	G			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr2:49381416A>G	ENST00000406846.2	-	1	260	c.141T>C	c.(139-141)aaT>aaC	p.N47N	FSHR_ENST00000346173.3_Silent_p.N47N|FSHR_ENST00000304421.4_Silent_p.N47N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	47					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GTTCAATGGCATTCCTCGGGA	0.463									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2											0			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(139-141)aaT>aaC	follicle stimulating hormone receptor						70	69	69					2																	49381416		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49381416A>G			CCDS1843.1, CCDS1844.1, CCDS1844.2	CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			2014-09-17			ENSG00000170820	ENSG00000170820	ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	"GPCR / Class A : Gonadotropin and TSH receptors"	3969	3969	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			136435	136435		ODG1		ODG1		8230163, 8855829	8230163, 8855829	Standard	Standard	NM_000145	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	uc002rww.3	P23945	P23945	OTTHUMG00000129259	OTTHUMG00000129259	ENST00000406846.2:c.141T>C	2.37:g.49381416A>G			FSHR_ENST00000346173.3_Silent_p.N47N|FSHR_ENST00000304421.4_Silent_p.N47N	p.N47N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	260	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	47		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	c.141T>C	CCDS1843.1																																																																																									0.463	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		25.729183	-8	-8	36	36			10	28.003147	28.003147	30	0.25	0	0	0	1	0	10	30	0.25	G	49381416	A	G	49381416	2	3	76	1	0	0	0	0	0	0	0	1	6073	214	8	4		4	FSHR	2	49381416	Silent	SNP	A	TCGA-YZ-A980-01A-11D-A39W-08		49381416	193817957	1	1431											
EIF1B	10289	broad.mit.edu	37	3	40353009	40353010	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr3:40353009_40353010insT	ENST00000232905.3	+	3	502_503	c.244_245insT	c.(244-246)gttfs	p.V82fs	ENTPD3-AS1_ENST00000439293.1_RNA	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	82					regulation of translational initiation (GO:0006446)		poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATACGGAGAGGTTATTCAGCTT	0.361																																						ENST00000232905.3											0			central_nervous_system(1)|lung(3)	4						c.(244-246)gttfs	eukaryotic translation initiation factor 1B																																			SO:0001589	frameshift_variant	10289			regulation of translational initiation		protein binding|translation initiation factor activity	g.chr3:40353009_40353010insT	BC006996	BC006996	CCDS2690.1	CCDS2690.1	3p22.1	2006-02-03			2006-02-03			ENSG00000114784	ENSG00000114784	ENSG00000114784	ENSG00000114784				30792	30792	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										7904817	7904817	Standard	Standard	NM_005875	NM_005875		Approved	GC20	uc003ckc.3	uc003ckc.3	O60739	O60739	OTTHUMG00000131388	OTTHUMG00000131388	ENST00000232905.3:c.246dupT	3.37:g.40353011_40353011dupT	ENSP00000232905:p.Val82fs			p.V82fs	NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	502_503	+			82		Q9UQF8	Frame_Shift_Ins	INS	ENST00000232905.3	37	c.244_245insT	CCDS2690.1																																																																																									0.361	EIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254177.1	.	.	-11	-11	65	65	NM_005875		10			44	0.19						10	44	0.19	T	40353010	-	T	40353009	7	5	76	1	0	1	1	0	0	0	0	0	4994	1261	44	0	254	0	EIF1B	3	40353009	Frame_Shift_Ins	INS	-	TCGA-YZ-A980-01A-11D-A39W-08		40353009	157669421	2	1432											
BAP1	8314	broad.mit.edu	37	3	52439228	52439229	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr3:52439228_52439229delAG	ENST00000460680.1	-	11	1484_1485	c.1013_1014delCT	c.(1012-1014)cctfs	p.P339fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.P321fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V335fs*10(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGCTGCCTGGAGGCTTCACCAC	0.589			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	skin(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1012-1014)cctfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001589	frameshift_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52439228_52439229delAG	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1013_1014delCT	3:g.52439228_52439229delAG	ENSP00000417132:p.Pro339fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.P321fs	p.P339fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	11	1484_1485	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1		c.1013_1014delCT	CCDS2853.1																																																																																									0.589	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	3.912000e+01	5.691000e+01	-23	-23	154	154			24			61	0.29						24	61	0.29	-	52439229	AG	-	52439228	7	5	76	1	0	1	0	1	0	0	0	0	1311	291	11	0	1203	0	BAP1	3	52439228	Frame_Shift_Del	DEL	AG	TCGA-YZ-A980-01A-11D-A39W-08	12086219	52439228	145583202	3	1433	18	2									
BAP1	8314	broad.mit.edu	37	3	52439229	52439229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr3:52439229delG	ENST00000460680.1	-	11	1484	c.1013delC	c.(1012-1014)cctfs	p.P339fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.P321fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V335fs*10(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCTGCCTGGAGGCTTCACCAC	0.587			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	skin(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1012-1014)cctfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						113	120	117					3																	52439229		2203	4300	6503	SO:0001589	frameshift_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52439229delG	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1013delC	3.37:g.52439229delG	ENSP00000417132:p.Pro339fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.P321fs	p.P339fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	11	1484	-			339		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.1013delC	CCDS2853.1																																																																																									0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	-23	-23	154	154			25			63	0.28						25	63	0.28	-	52439229	G	-	52439229	7	5	76	1	0	1	0	1	0	0	0	0	1311	1000	35	0	1204	0	BAP1	3	52439229	Frame_Shift_Del	DEL	G	TCGA-YZ-A980-01A-11D-A39W-08	1	52439229	145583201	4	1434	18	2									
EIF2B5	8893	broad.mit.edu	37	3	183856019	183856019	+	Silent	SNP	C	C	T			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr3:183856019C>T	ENST00000273783.3	+	5	872	c.750C>T	c.(748-750)agC>agT	p.S250S	EIF2B5_ENST00000444495.1_Silent_p.S250S|RP11-778D9.12_ENST00000608135.1_RNA	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	250					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTCATATCAGCATCTGTTCTC	0.468																																						ENST00000273783.3											0			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(748-750)agC>agT	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa						161	147	152					3																	183856019		2203	4300	6503	SO:0001819	synonymous_variant	8893			astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183856019C>T	U23028	U23028	CCDS3252.1	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191	ENSG00000145191	ENSG00000145191				3261	3261	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603945	603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"		"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	8688466	Standard	Standard	NM_003907	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	uc003fmp.3	Q13144	Q13144	OTTHUMG00000156840	OTTHUMG00000156840	ENST00000273783.3:c.750C>T	3.37:g.183856019C>T			EIF2B5_ENST00000444495.1_Silent_p.S250S	p.S250S	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	872	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		250		Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.750C>T	CCDS3252.1																																																																																									0.468	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1		23.928331	-15	-15	77	77			10	26.379962	26.379962	31	0.243902	0	0	0	1	0	10	31	0.243902	T	183856019	C	T	183856019	2	4	76	1	0	0	0	0	0	0	0	1	5004	709	25	2		2	EIF2B5	3	183856019	Silent	SNP	C	TCGA-YZ-A980-01A-11D-A39W-08	131416790	183856019	14166411	5	1435											
TRIML1	339976	broad.mit.edu	37	4	189068325	189068325	+	Silent	SNP	G	G	A	rs376744139		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr4:189068325G>A	ENST00000332517.3	+	6	1346	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	402	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACGTCAGAGAGCCTGTGTGTA	0.493																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3											0			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1204-1206)gaG>gaA	tripartite motif family-like 1	G		0,4406		0,0,2203	152	136	141		1206	0	0.8	4		141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIML1	NM_178556.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		402/469	189068325	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	339976			multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068325G>A	AK093499	AK093499	CCDS3851.1	CCDS3851.1	4q35.2	2013-01-09			2013-01-09			ENSG00000184108	ENSG00000184108	ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	26698	26698	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_178556	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	uc003izm.1	Q8N9V2	Q8N9V2	OTTHUMG00000160237	OTTHUMG00000160237	ENST00000332517.3:c.1206G>A	4.37:g.189068325G>A			TRIML1_ENST00000507581.1_3'UTR	p.E402E	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1346	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	402	B30.2/SPRY.	Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1206G>A	CCDS3851.1																																																																																									0.493	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1		59.751651	-21	-21	119	119	NM_178556		24	64.688427	64.688427	69	0.258065	0	0	0	1	0	24	69	0.258065	A	189068325	G	A	189068325	2	1	76	1	0	0	0	0	0	0	0	1	16547	962	34	2		2	TRIML1	4	189068325	Silent	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		189068325	2085951	6	1436											
PPARD	5467	broad.mit.edu	37	6	35393805	35393805	+	Silent	SNP	C	C	G			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr6:35393805C>G	ENST00000311565.4	+	9	1624	c.1275C>G	c.(1273-1275)acC>acG	p.T425T	PPARD_ENST00000540939.1_Silent_p.T322T|PPARD_ENST00000448077.2_Silent_p.T386T|PPARD_ENST00000418635.2_Silent_p.T327T|PPARD_ENST00000360694.3_Silent_p.T425T	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	425	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AGACCGAAACCGAGACCTCGC	0.607																																						ENST00000311565.4											0			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1273-1275)acC>acG	peroxisome proliferator-activated receptor delta						100	84	89					6																	35393805		2203	4300	6503	SO:0001819	synonymous_variant	5467			apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35393805C>G	L07592	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033	ENSG00000112033	ENSG00000112033		"Nuclear hormone receptors"	"Nuclear hormone receptors"	9235	9235	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600409	600409	"peroxisome proliferative activated receptor, delta"		"peroxisome proliferative activated receptor, delta"			1333051	1333051	Standard	Standard	NM_177435	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	uc003okm.3	Q03181	Q03181	OTTHUMG00000014567	OTTHUMG00000014567	ENST00000311565.4:c.1275C>G	6.37:g.35393805C>G			PPARD_ENST00000540939.1_Silent_p.T322T|PPARD_ENST00000448077.2_Silent_p.T386T|PPARD_ENST00000360694.3_Silent_p.T425T|PPARD_ENST00000418635.2_Silent_p.T327T	p.T425T	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN			9	1624	+			425	Ligand-binding.	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	ENST00000311565.4	37	c.1275C>G	CCDS4803.1																																																																																									0.607	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1		10.356799	-25	-25	27	27	NM_006238		5	13.738804	13.738804	26	0.16129	0	0	0	1	0	5	26	0.16129	G	35393805	C	G	35393805	2	3	76	1	0	0	0	0	0	0	0	1	12298	639	23	5		5	PPARD	6	35393805	Silent	SNP	C	TCGA-YZ-A980-01A-11D-A39W-08		35393805	135721262	7	1437											
KIAA1967	57805	broad.mit.edu	37	8	22475962	22475963	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr8:22475962_22475963insA	ENST00000308511.4	+	17	2423_2424	c.2174_2175insA	c.(2173-2178)ttagagfs	p.E726fs	BIN3_ENST00000519335.1_5'Flank|CCAR2_ENST00000389279.3_Frame_Shift_Ins_p.E726fs|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Frame_Shift_Ins_p.E401fs			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	726	Interaction with NR1D1. {ECO:0000269|PubMed:23398316}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CGGCGAGACTTAGAGAGGATCC	0.564																																						ENST00000308511.4											0										c.(2173-2178)ttagagfs	cell cycle and apoptosis regulator 2																																			SO:0001589	frameshift_variant	57805						g.chr8:22475962_22475963insA	AL834351	AL834351	CCDS34863.1	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941		ENSG00000158941				23360	23360	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"deleted in breast cancer"	"deleted in breast cancer"	607359	607359	"KIAA1967"	KIAA1967	"KIAA1967"	KIAA1967		12370419	12370419	Standard	Standard	NM_021174	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	uc003xci.3	Q8N163	Q8N163			ENST00000308511.4:c.2175dupA	8.37:g.22475963_22475963dupA	ENSP00000310670:p.Glu726fs		CCAR2_ENST00000520861.1_Frame_Shift_Ins_p.E401fs|CCAR2_ENST00000389279.3_Frame_Shift_Ins_p.E726fs	p.E726fs							17	2423_2424	+			726		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Frame_Shift_Ins	INS	ENST00000308511.4	37	c.2174_2175insA	CCDS34863.1																																																																																									0.564	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	.	.	-20	-20	105	105	NM_021174		17			51	0.25						17	51	0.25	A	22475963	-	A	22475962	7	5	76	1	0	1	1	0	0	0	0	0	8265	1764	61	0	2236	0	KIAA1967	8	22475962	Frame_Shift_Ins	INS	-	TCGA-YZ-A980-01A-11D-A39W-08		22475962	123888060	8	1438											
OR1L1	26737	broad.mit.edu	37	9	125424359	125424359	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr9:125424359G>A	ENST00000373686.1	+	1	515	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OR1L1_ENST00000309623.1_Missense_Mutation_p.R122H			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCATTGACCGCTATGTGGCC	0.458																																						ENST00000373686.1											0			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(514-516)cGc>cAc	olfactory receptor, family 1, subfamily L, member 1						260	235	243					9																	125424359		2203	4300	6503	SO:0001583	missense	26737			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424359G>A			CCDS35127.1, CCDS35127.2	CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			2013-09-20			ENSG00000173679	ENSG00000173679	ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8213	8213	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						OR1L2		OR1L2				Standard	Standard	NM_001005236	NM_001005236		Approved	OR9-C	uc022bmz.1	uc022bmz.1	Q8NH94	Q8NH94	OTTHUMG00000020618	OTTHUMG00000020618	ENST00000373686.1:c.515G>A	9.37:g.125424359G>A	ENSP00000362790:p.Arg172His		OR1L1_ENST00000309623.1_Missense_Mutation_p.R122H	p.R172H			Q8NH94	OR1L1_HUMAN			1	515	+			172		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.515G>A		.	.	.	.	.	.	.	.	.	.	G	13.83	2.353302	0.41700	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.77489	-1.1;-1.1	3.11	2.2	0.27929	3.11	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.73273	0.3566	M	0.61703	1.905	0.27518	N	0.951488	B	0.21520	0.057	B	0.20184	0.028	T	0.66968	-0.5789	9	0.72032	D	0.01	.	9.2331	0.37450	0.1151:0.0:0.8849:0.0	.	172	Q8NH94	OR1L1_HUMAN	H	172;122	ENSP00000362790:R172H;ENSP00000310773:R122H	ENSP00000310773:R122H	R	+	2	0	0	OR1L1	124464180	124464180	0.996000	0.38824	0.317000	0.25265	0.010000	0.07245	7.528000	0.81941	0.623000	0.30267	0.313000	0.20887	CGC		0.458	OR1L1-201	KNOWN	basic	protein_coding	protein_coding			-21.064550	-24	-24	154	154			4	7.403119	7.403119	116	0.033333	0	0	0	1	0	4	116	0.033333	A	125424359	G	A	125424359	3	1	76	1	0	0	0	0	1	0	0	0	10963	1087	38	1	367	1	OR1L1	9	125424359	Missense_Mutation	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		125424359	15789072	9	1439											
PSAP	5660	broad.mit.edu	37	10	73588803	73588803	+	Missense_Mutation	SNP	T	T	C	rs374177795		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr10:73588803T>C	ENST00000394936.3	-	5	554	c.407A>G	c.(406-408)aAc>aGc	p.N136S	PSAP_ENST00000394934.1_Missense_Mutation_p.N136S			P07602	SAP_HUMAN	prosaposin	136	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CTCGCAGAGGTTGAGAGCAGA	0.552																																						ENST00000394936.3											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(406-408)aAc>aGc	prosaposin	T	SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	73	72	73		407,407,407	-1.8	1	10		73	0,8600		0,0,4300	no	missense,missense,missense	PSAP	NM_001042465.1,NM_001042466.1,NM_002778.2	46,46,46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign	136/528,136/527,136/525	73588803	1,13005	2203	4300	6503	SO:0001583	missense	5660			glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73588803T>C	BC004275	BC004275	CCDS7311.1	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746	ENSG00000197746	ENSG00000197746		"Endogenous ligands"	"Endogenous ligands"	9498	9498	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	176801	"sphingolipid activator protein-1"	SAP1, GLBA	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	2717620	Standard	Standard	NM_001042465	NM_001042465		Approved		uc001jsm.3	uc001jsm.3	P07602	P07602	OTTHUMG00000018429	OTTHUMG00000018429	ENST00000394936.3:c.407A>G	10.37:g.73588803T>C	ENSP00000378394:p.Asn136Ser		PSAP_ENST00000394934.1_Missense_Mutation_p.N136S	p.N136S			P07602	SAP_HUMAN			5	554	-			136	Saposin B-type 1.	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.407A>G	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	T	6.204	0.405741	0.11754	2.27E-4	0.0	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	T;T	0.74106	-0.81;-0.81	5.0	-1.83	0.07833	5.0	-1.83	0.07833	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.596935	0.18687	N	0.133984	T	0.44871	0.1314	N	0.03608	-0.345	0.23401	N	0.997756	B	0.09022	0.002	B	0.11329	0.006	T	0.34950	-0.9808	10	0.37606	T	0.19	-8.1092	7.1844	0.25791	0.0:0.4344:0.2114:0.3542	.	136	P07602	SAP_HUMAN	S	136;136;136;136;139;61	ENSP00000378394:N136S;ENSP00000378392:N136S	ENSP00000350063:N136S	N	-	2	0	0	PSAP	73258809	73258809	0.000000	0.05858	0.993000	0.49108	0.888000	0.51559	-0.356000	0.07661	0.018000	0.15052	-0.736000	0.03550	AAC		0.552	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1		26.325878	-40	-40	87	87	NM_002778		13	35.435608	35.435608	69	0.158537	0	0	0	1	0	13	69	0.158537	C	73588803	T	C	73588803	3	2	76	1	0	0	0	0	1	0	0	0	12643	1725	60	4	1223	4	PSAP	10	73588803	Missense_Mutation	SNP	T	TCGA-YZ-A980-01A-11D-A39W-08		73588803	61945944	10	1440											
PLAU	414236	broad.mit.edu	37	10	75673396	75673396	+	Intron	SNP	T	T	C			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr10:75673396T>C	ENST00000409178.1	-	3	268				PLAU_ENST00000446342.1_Missense_Mutation_p.I170T|PLAU_ENST00000372762.4_Missense_Mutation_p.I151T|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.I187T	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					TTCACCACCATCGAGAACCAG	0.547																																						ENST00000446342.1											0			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(508-510)aTc>aCc	plasminogen activator, urokinase						99	117	111					10																	75673396		2203	4300	6503	SO:0001627	intron_variant	5328			blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673396T>C		BC013575	CCDS53541.1	CCDS7339.1, CCDS44442.1	10q22.2	2012-05-24			2012-10-02			ENSG00000222047	ENSG00000222047	ENSG00000122861	ENSG00000122861				31008	9052	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				191840							2415429	Standard	Standard	NM_001001791	NM_002658		Approved	bA417O11.3	uc001jvz.2	uc001jwa.3	Q5SWW7	P00749	OTTHUMG00000018496	OTTHUMG00000018494	ENST00000409178.1:c.73-563A>G	10.37:g.75673396T>C			C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.I187T|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.I151T	p.I170T	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN			6	991	+	Prostate(51;0.0112)		187	Connecting peptide.	Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.509T>C	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.248166	0.39697	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.88509	-2.39;-2.39;-2.39	5.25	0.244	0.15507	5.25	0.244	0.15507	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.454666	0.26255	N	0.025427	D	0.83737	0.5319	L	0.52206	1.635	0.09310	N	1	B;B;B;B	0.20368	0.021;0.044;0.034;0.001	B;B;B;B	0.27380	0.079;0.049;0.064;0.002	T	0.73228	-0.4049	10	0.49607	T	0.09	.	8.0973	0.30835	0.0:0.2628:0.0:0.7372	.	170;151;187;187	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	T	170;187;151;151	ENSP00000388474:I170T;ENSP00000361850:I187T;ENSP00000361848:I151T	ENSP00000361847:I151T	I	+	2	0	0	PLAU	75343402	75343402	0.071000	0.21146	0.000000	0.03702	0.969000	0.65631	1.239000	0.32719	-0.135000	0.11495	0.528000	0.53228	ATC		0.547	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1		-10.791646	-27	-27	176	176	NM_001001791		9	6.945374	6.945374	93	0.088235	0	0	0	1	0	9	93	0.088235	C	75673396	T	C	75673396	1	2	76	0	1	0	0	0	0	0	0	0	12022	1435	50	4		4	PLAU	10	75673396	Intron	SNP	T	TCGA-YZ-A980-01A-11D-A39W-08	2084593	75673396	59861351	11	1441											
KCNH5	27133	broad.mit.edu	37	14	63269191	63269191	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr14:63269191G>A	ENST00000322893.7	-	9	1946	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	560					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCAAGGCGCGCAGACACCCA	0.512																																						ENST00000322893.7											0			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1678-1680)Cgc>Tgc	potassium voltage-gated channel, subfamily H (eag-related), member 5						82	77	79					14																	63269191		2203	4300	6503	SO:0001583	missense	27133			regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269191G>A	U69185	U69185	CCDS9756.1, CCDS45122.1	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			2012-07-05			ENSG00000140015	ENSG00000140015	ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	6254	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605716	605716						9738473, 16382104	9738473, 16382104	Standard	Standard	NM_139318	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	uc001xfx.3	Q8NCM2	Q8NCM2	OTTHUMG00000029041	OTTHUMG00000029041	ENST00000322893.7:c.1678C>T	14.37:g.63269191G>A	ENSP00000321427:p.Arg560Cys		KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C	p.R560C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1946	-			560		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1678C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948501	0.73787	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96940	-4.18;-4.18;-4.18	5.13	4.22	0.49857	5.13	4.22	0.49857	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99564	1.0969	10	0.87932	D	0	.	15.7242	0.77740	0.0:0.1373:0.8627:0.0	.	502;560;560	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	C	560;560;502	ENSP00000321427:R560C;ENSP00000395439:R560C;ENSP00000378419:R502C	ENSP00000321427:R560C	R	-	1	0	0	KCNH5	62338944	62338944	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	5.628000	0.67791	1.265000	0.44215	0.563000	0.77884	CGC		0.512	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		9.419160	0	0	68	68	NM_139318		6	15.05343	15.05343	38	0.136364	0	0	0	1	0	6	38	0.136364	A	63269191	G	A	63269191	3	1	76	1	0	0	0	0	1	0	0	0	8035	1087	38	1	1334	1	KCNH5	14	63269191	Missense_Mutation	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		63269191	44080349	12	1442											
RNF167	26001	broad.mit.edu	37	17	4846548	4846548	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr17:4846548G>A	ENST00000262482.6	+	7	1201	c.545G>A	c.(544-546)gGa>gAa	p.G182E	RNF167_ENST00000572430.1_Missense_Mutation_p.G182E|RNF167_ENST00000576229.1_Missense_Mutation_p.G147E|RNF167_ENST00000570492.1_Intron|RNF167_ENST00000571816.1_Missense_Mutation_p.G182E|RNF167_ENST00000575111.1_Missense_Mutation_p.G182E	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	182					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						GGGATTGTGGGACTGCTGGTT	0.547																																						ENST00000262482.6											0			endometrium(1)|large_intestine(2)|lung(1)	4						c.(544-546)gGa>gAa	ring finger protein 167						83	72	76					17																	4846548		2203	4300	6503	SO:0001583	missense	26001			negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:4846548G>A	AL050060	AL050060	CCDS11060.1	CCDS11060.1	17p13.3	2013-02-21			2013-02-21			ENSG00000108523	ENSG00000108523	ENSG00000108523	ENSG00000108523		"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	24544	24544	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610431	610431						23129617, 23353890	23129617, 23353890	Standard	Standard	NM_015528	NM_015528		Approved	DKFZP566H073	uc002fzs.3	uc002fzs.3	Q9H6Y7	Q9H6Y7	OTTHUMG00000099397	OTTHUMG00000099397	ENST00000262482.6:c.545G>A	17.37:g.4846548G>A	ENSP00000262482:p.Gly182Glu		RNF167_ENST00000572430.1_Missense_Mutation_p.G182E|RNF167_ENST00000576229.1_Missense_Mutation_p.G147E|RNF167_ENST00000570492.1_Intron|RNF167_ENST00000571816.1_Missense_Mutation_p.G182E|RNF167_ENST00000575111.1_Missense_Mutation_p.G182E	p.G182E	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN			7	1201	+			182		D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP	ENST00000262482.6	37	c.545G>A	CCDS11060.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763871	0.69878	.	.	ENSG00000108523	ENST00000262482	T	0.04156	3.69	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.168939	0.52532	D	0.000076	T	0.18467	0.0443	M	0.76170	2.325	0.44587	D	0.997552	D	0.58620	0.983	D	0.63703	0.917	T	0.00036	-1.2256	10	0.41790	T	0.15	-0.3361	13.364	0.60674	0.0:0.1579:0.8421:0.0	.	182	Q9H6Y7	RN167_HUMAN	E	182	ENSP00000262482:G182E	ENSP00000262482:G182E	G	+	2	0	0	RNF167	4787293	4787293	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.290000	0.59019	2.793000	0.96121	0.563000	0.77884	GGA		0.547	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3		16.307772	-3	-3	51	51	NM_015528		7	18.835121	18.835121	26	0.212121	0	0	0	1	0	7	26	0.212121	A	4846548	G	A	4846548	3	1	76	1	0	0	0	0	1	0	0	0	13458	1174	41	3	567	3	RNF167	17	4846548	Missense_Mutation	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		4846548	76348662	13	1443											
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104	89	94					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		17.309185	-15	-15	66	66	NM_002067		7	19.449272	19.449272	24	0.225806	0	0	0	1	0	7	24	0.225806	T	3118942	A	T	3118942	3	4	76	1	0	0	0	0	1	0	0	0	6499	188	7	5	644	5	GNA11	19	3118942	Missense_Mutation	SNP	A	TCGA-YZ-A980-01A-11D-A39W-08		3118942	56010041	14	1444											
LYPD4	147719	broad.mit.edu	37	19	42342289	42342289	+	Silent	SNP	C	C	T	rs201791029		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr19:42342289C>T	ENST00000330743.3	-	4	1469	c.258G>A	c.(256-258)tcG>tcA	p.S86S	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Silent_p.S51S|LYPD4_ENST00000343055.4_Silent_p.S51S	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	86	Poly-Ser.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CAGGGTAAGACGAAGACGAGC	0.557													-|||	1	0.000199681	0	0.0014	5008	,	,		16789	0		0	False		,,,				2504	0					ENST00000330743.3											0			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(256-258)tcG>tcA	LY6/PLAUR domain containing 4						98	89	92					19																	42342289		2203	4300	6503	SO:0001819	synonymous_variant	147719				anchored to membrane|plasma membrane		g.chr19:42342289C>T	AY358726	AY358726	CCDS12587.1	CCDS12587.1	19q13.2	2008-02-05			2008-02-05				ENSG00000273111		ENSG00000273111				28659	28659	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12975309	12975309	Standard	Standard	XM_005278383	XM_005278383		Approved	MGC42718	uc002orp.1	uc002orp.1	Q6UWN0	Q6UWN0			ENST00000330743.3:c.258G>A	19.37:g.42342289C>T			LYPD4_ENST00000343055.4_Silent_p.S51S|LYPD4_ENST00000601246.1_Silent_p.S51S	p.S86S	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			4	1469	-			86	Poly-Ser.	Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.258G>A	CCDS12587.1																																																																																									0.557	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1		1.802766	-13	-13	34	34	NM_173506		3	6.598771	6.598771	27	0.1	0	0	0	1	0	3	27	0.1	T	42342289	C	T	42342289	2	4	76	1	0	0	0	0	0	0	0	1	9112	523	19	1		1	LYPD4	19	42342289	Silent	SNP	C	TCGA-YZ-A980-01A-11D-A39W-08	39223347	42342289	16786694	15	1445											
STK4	6789	broad.mit.edu	37	20	43653753	43653753	+	Silent	SNP	G	G	A			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr20:43653753G>A	ENST00000372806.3	+	10	1382	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	STK4_ENST00000372801.1_Silent_p.Q429Q|STK4_ENST00000499879.2_Silent_p.Q374Q|STK4_ENST00000396731.4_Silent_p.Q429Q	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	429					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AAATACCACAGGATGGAGACT	0.363																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3											0			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1285-1287)caG>caA	serine/threonine kinase 4						104	100	101					20																	43653753		2203	4300	6503	SO:0001819	synonymous_variant	6789			apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43653753G>A			CCDS13341.1	CCDS13341.1	20q11.2-q13.2	2014-09-17			2014-09-17			ENSG00000101109	ENSG00000101109	ENSG00000101109	ENSG00000101109				11408	11408	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965	604965						8816758, 9545236, 11517310	8816758, 9545236, 11517310	Standard	Standard	NM_006282	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	uc002xnb.3	Q13043	Q13043	OTTHUMG00000033059	OTTHUMG00000033059	ENST00000372806.3:c.1287G>A	20.37:g.43653753G>A			STK4_ENST00000396731.4_Silent_p.Q429Q|STK4_ENST00000372801.1_Silent_p.Q429Q|STK4_ENST00000499879.2_Silent_p.Q374Q	p.Q429Q	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			10	1382	+		Myeloproliferative disorder(115;0.0122)	429		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Silent	SNP	ENST00000372806.3	37	c.1287G>A	CCDS13341.1																																																																																									0.363	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4		14.098175	8	8	62	62	NM_006282		7	18.522913	18.522913	35	0.166667	0	0	0	1	0	7	35	0.166667	A	43653753	G	A	43653753	2	1	76	1	0	0	0	0	0	0	0	1	15305	991	35	3		3	STK4	20	43653753	Silent	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		43653753	19371767	16	1446											
LAMA5	3911	ucsc.edu	37	20	60885315	60885315	+	Silent	SNP	G	G	T			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr20:60885315G>T	ENST00000252999.3	-	77	10719	c.10653C>A	c.(10651-10653)ccC>ccA	p.P3551P	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3551	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGACTGCCAGGGGCCGCACCT	0.652																																																	0																	33	39	37					20																	60885315		2201	4294	6495	SO:0001819	synonymous_variant	3911							AF443072	AF443072	CCDS33502.1	CCDS33502.1	20q13.2-q13.3	2013-03-01			2013-03-01			ENSG00000130702	ENSG00000130702	ENSG00000130702	ENSG00000130702		"Laminins"	"Laminins"	6485	6485	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601033	601033						9271224	9271224	Standard	Standard	NM_005560	NM_005560		Approved		uc002ycq.3	uc002ycq.3	O15230	O15230	OTTHUMG00000032908	OTTHUMG00000032908	ENST00000252999.3:c.10653C>A	20.37:g.60885315G>T																		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37		CCDS33502.1																																																																																									0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2			-3	-3	62	62	NM_005560		4			37							4	37		T	60885315	G	T	60885315	2	4	76	1	0	0	0	0	0	0	0	1	8609	1219	43	5		5	LAMA5	20	60885315	Silent	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08	17231562	60885315	2140205	17	1447											
DRG1	4733	broad.mit.edu	37	22	31816310	31816310	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	g.chr22:31816310A>G	ENST00000331457.4	+	5	642	c.481A>G	c.(481-483)Att>Gtt	p.I161V	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	161	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TAAGAAGATAATTGAAAATGA	0.428																																						ENST00000331457.4											0			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						c.(481-483)Att>Gtt	developmentally regulated GTP binding protein 1						81	76	78					22																	31816310		2203	4300	6503	SO:0001583	missense	4733			multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31816310A>G	AJ005940	AJ005940	CCDS13897.1	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721	ENSG00000185721	ENSG00000185721				3029	3029	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603952	603952	"developmentally regulated GTP-binding protein 1"	NEDD3	"developmentally regulated GTP-binding protein 1"	NEDD3		7929244, 1449490	7929244, 1449490	Standard	Standard	NM_004147	NM_004147		Approved		uc003aku.3	uc003aku.3	Q9Y295	Q9Y295	OTTHUMG00000030792	OTTHUMG00000030792	ENST00000331457.4:c.481A>G	22.37:g.31816310A>G	ENSP00000329715:p.Ile161Val		DRG1_ENST00000433341.1_3'UTR	p.I161V	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN			5	642	+			161	G.	B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.481A>G	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709524	0.68730	.	.	ENSG00000185721	ENST00000331457	T	0.16897	2.31	5.2	5.2	0.72013	5.2	5.2	0.72013	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.67397	2.05	0.80722	D	1	P	0.40681	0.727	P	0.50570	0.644	T	0.05699	-1.0869	10	0.87932	D	0	-27.6891	14.5399	0.67984	1.0:0.0:0.0:0.0	.	161	Q9Y295	DRG1_HUMAN	V	161	ENSP00000329715:I161V	ENSP00000329715:I161V	I	+	1	0	0	DRG1	30146310	30146310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.648000	0.91062	2.082000	0.62665	0.533000	0.62120	ATT		0.428	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5		30.870118	13	13	88	88	NM_004147		12	35.090373	35.090373	44	0.214286	0	0	0	1	0	12	44	0.214286	G	31816310	A	G	31816310	3	3	76	1	0	0	0	0	1	0	0	0	4761	101	4	4	499	4	DRG1	22	31816310	Missense_Mutation	SNP	A	TCGA-YZ-A980-01A-11D-A39W-08		31816310	19488256	18	1448											
EPHA2	1969	broad.mit.edu	37	1	16458656	16458656	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:16458656C>T	ENST00000358432.5	-	13	2382	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	743	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GAGGATGTTGCGGGCAGCCAG	0.612																																						ENST00000358432.5											0			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2227-2229)cGc>cAc	EPH receptor A2						177	152	161					1																	16458656		2203	4300	6503	SO:0001583	missense	1969			activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16458656C>T	BC037166	BC037166	CCDS169.1	CCDS169.1	1p36	2013-02-11	2004-10-28		2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	3386	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176946	176946	"EphA2"	ECK	"EphA2"	ECK		9119409	9119409	Standard	Standard	NM_004431	NM_004431		Approved		uc001aya.2	uc001aya.2	P29317	P29317	OTTHUMG00000009527	OTTHUMG00000009527	ENST00000358432.5:c.2228G>A	1.37:g.16458656C>T	ENSP00000351209:p.Arg743His			p.R743H	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	13	2382	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	743	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2228G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577998	0.96565	.	.	ENSG00000142627	ENST00000358432	D	0.87729	-2.29	6.07	6.07	0.98685	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000015	D	0.95277	0.8468	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95654	0.8709	10	0.87932	D	0	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	743	P29317	EPHA2_HUMAN	H	743	ENSP00000351209:R743H	ENSP00000351209:R743H	R	-	2	0	0	EPHA2	16331243	16331243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CGC		0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		-5.120437	43	43	191	191	NM_004431		3	6.378385	6.378385	52	0.054545	0	0	0	1	0	3	52	0.054545	T	16458656	C	T	16458656	3	4	77	1	0	0	0	0	1	0	0	0	5167	768	27	1	722	1	EPHA2	1	16458656	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		16458656	232791965	1	1449											
SPTA1	6708	broad.mit.edu	37	1	158612731	158612731	+	Missense_Mutation	SNP	C	C	T	rs544007770		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:158612731C>T	ENST00000368147.4	-	32	4658	c.4478G>A	c.(4477-4479)cGg>cAg	p.R1493Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1493					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGCTTTGTCCGCTCATCAAT	0.507																																						ENST00000368147.4											0			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4477-4479)cGg>cAg	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						128	117	121					1																	158612731		1990	4169	6159	SO:0001583	missense	6708			actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612731C>T	M61877	M61877	CCDS41423.1	CCDS41423.1	1q21	2014-06-23	2014-06-23		2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	"EF-hand domain containing"	11272	11272	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"elliptocytosis 2"	"elliptocytosis 2"	182860	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"		"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"					Standard	Standard	NM_003126	NM_003126		Approved	EL2	uc001fst.1	uc001fst.1	P02549	P02549	OTTHUMG00000019636	OTTHUMG00000019636	ENST00000368147.4:c.4478G>A	1.37:g.158612731C>T	ENSP00000357129:p.Arg1493Gln			p.R1493Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			32	4658	-	all_hematologic(112;0.0378)				Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4478G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429834	0.43122	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	5.2	-3.76	0.04359	5.2	-3.76	0.04359	.	0.695078	0.11044	N	0.605789	T	0.31544	0.0800	M	0.64997	1.995	0.09310	N	1	D	0.67145	0.996	P	0.59012	0.85	T	0.16837	-1.0389	10	0.26408	T	0.33	.	4.1679	0.10315	0.0966:0.4825:0.091:0.3299	.	1493	P02549	SPTA1_HUMAN	Q	1493	ENSP00000357130:R1493Q;ENSP00000357129:R1493Q	ENSP00000357129:R1493Q	R	-	2	0	0	SPTA1	156879355	156879355	0.015000	0.18098	0.000000	0.03702	0.009000	0.06853	0.767000	0.26575	-1.363000	0.02164	-0.797000	0.03246	CGG		0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		127.560244	3	3	87	87	NM_003126		38	127.824042	127.824042	29	0.567164	0	0	0	1	0	38	29	0.567164	T	158612731	C	T	158612731	3	4	77	1	0	0	0	0	1	0	0	0	15115	652	23	1	2865	1	SPTA1	1	158612731	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	142154075	158612731	90637890	2	1450											
PAPPA2	60676	broad.mit.edu	37	1	176563716	176563716	+	Missense_Mutation	SNP	C	C	T	rs368485332		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:176563716C>T	ENST00000367662.3	+	3	2140	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R326C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	326					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R326C(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTGGGGATCCGCTCAGGGAA	0.537																																						ENST00000367662.3											2	Substitution - Missense(2)	lung(2)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(976-978)Cgc>Tgc	pappalysin 2						51	51	51					1																	176563716		1979	4160	6139	SO:0001583	missense	60676			cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563716C>T	BG354569	BG354569	CCDS41438.1, CCDS41439.1	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183	ENSG00000116183	ENSG00000116183				14615	14615	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"placenta-specific 3"	PLAC3	"placenta-specific 3"	PLAC3		11018262, 11264294	11018262, 11264294	Standard	Standard	NM_021936	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	uc001gkz.3	Q9BXP8	Q9BXP8	OTTHUMG00000035025	OTTHUMG00000035025	ENST00000367662.3:c.976C>T	1.37:g.176563716C>T	ENSP00000356634:p.Arg326Cys		PAPPA2_ENST00000367661.3_Missense_Mutation_p.R326C	p.R326C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2140	+			326		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.976C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947902	0.73787	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.74209	-0.82;-0.82	5.45	5.45	0.79879	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.111801	0.64402	D	0.000007	D	0.83806	0.5334	M	0.68593	2.085	0.51767	D	0.999937	D;D	0.89917	0.999;1.0	P;D	0.67900	0.901;0.954	D	0.85377	0.1117	10	0.87932	D	0	-19.5477	14.6197	0.68574	0.1464:0.8536:0.0:0.0	.	326;326	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	C	326	ENSP00000356634:R326C;ENSP00000356633:R326C	ENSP00000356633:R326C	R	+	1	0	0	PAPPA2	174830339	174830339	0.017000	0.18338	1.000000	0.80357	0.983000	0.72400	1.902000	0.39848	2.555000	0.86185	0.650000	0.86243	CGC		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		41.703860	10	10	63	63			15	43.944299	43.944299	38	0.283019	0	0	0	1	0	15	38	0.283019	T	176563716	C	T	176563716	3	4	77	1	0	0	0	0	1	0	0	0	11433	652	23	1	982	1	PAPPA2	1	176563716	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	17950985	176563716	72686905	3	1451											
C1orf55	163859	broad.mit.edu	37	1	226179008	226179008	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr1:226179008G>A	ENST00000272091.7	-	5	595	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	193																	GGCCATTGCCGTTTCCGATTC	0.438																																						ENST00000272091.7											0										c.(577-579)Cgg>Tgg	SDE2 telomere maintenance homolog (S. pombe)						110	105	106					1																	226179008		1940	4159	6099	SO:0001583	missense	163859						g.chr1:226179008G>A	BC071563	BC071563	CCDS41473.1	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751	ENSG00000143751	ENSG00000143751				26643	26643	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 1 open reading frame 55"	C1orf55	"chromosome 1 open reading frame 55"	C1orf55		21333630	21333630	Standard	Standard	NM_152608	NM_152608		Approved	FLJ35382	uc001hpu.4	uc001hpu.4	Q6IQ49	Q6IQ49	OTTHUMG00000037504	OTTHUMG00000037504	ENST00000272091.7:c.577C>T	1.37:g.226179008G>A	ENSP00000272091:p.Arg193Trp			p.R193W	NM_152608.3	NP_689821.3					5	595	-					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.577C>T	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031833	0.54790	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.59364	0.57;0.27	5.85	3.95	0.45737	5.85	3.95	0.45737	.	0.104425	0.64402	D	0.000005	T	0.73860	0.3641	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76804	-0.2824	10	0.87932	D	0	-23.9175	15.3002	0.73945	0.0:0.0:0.7441:0.2559	.	181;193	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	W	193;181;98	ENSP00000272091:R193W;ENSP00000355782:R98W	ENSP00000272091:R193W	R	-	1	2	2	C1orf55	224245631	224245631	1.000000	0.71417	0.985000	0.45067	0.113000	0.19764	2.713000	0.47194	0.785000	0.33685	0.557000	0.71058	CGG		0.438	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1		-10.235343	8	8	75	75	NM_152608		3	6.30067	6.30067	70	0.041096	0	0	0	1	0	3	70	0.041096	A	226179008	G	A	226179008	3	1	77	1	0	0	0	0	1	0	0	0	2047	1144	40	1	790	1	C1orf55	1	226179008	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	49615292	226179008	23071613	4	1452											
SCN9A	6335	broad.mit.edu	37	2	167056074	167056074	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr2:167056074A>G	ENST00000409435.1	-	26	5074	c.5075T>C	c.(5074-5076)tTc>tCc	p.F1692S	SCN9A_ENST00000409672.1_Missense_Mutation_p.F1681S|SCN9A_ENST00000375387.4_Missense_Mutation_p.F1693S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.F1693S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1692					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTAATTTGGAACAGGCAAAT	0.413																																						ENST00000303354.6											0			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5077-5079)tTc>tCc	sodium channel, voltage-gated, type IX, alpha subunit						178	189	185					2																	167056074		2203	4300	6503	SO:0001583	missense	6335				voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056074A>G	X82835	X82835	CCDS46441.1	CCDS46441.1	2q24	2014-09-17	2007-01-23		2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432	ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	10597	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603415	603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"		"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	7720699, 10198179, 16382098	Standard	Standard	NM_002977	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	uc010fpl.3	Q15858	Q15858	OTTHUMG00000154044	OTTHUMG00000154044	ENST00000409435.1:c.5075T>C	2.37:g.167056074A>G	ENSP00000386330:p.Phe1692Ser		AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F1681S|SCN9A_ENST00000375387.4_Missense_Mutation_p.F1693S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F1692S	p.F1693S			Q15858	SCN9A_HUMAN			27	5418	-			1692		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5078T>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550797	0.65311	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000005	D	0.99799	0.9914	H	0.99946	5.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96411	0.9304	10	0.87932	D	0	.	16.2479	0.82454	1.0:0.0:0.0:0.0	.	1681	E7EUN6	.	S	1681;1693;1693;1692	ENSP00000386306:F1681S;ENSP00000364536:F1693S;ENSP00000304748:F1693S;ENSP00000386330:F1692S	ENSP00000304748:F1693S	F	-	2	0	0	SCN9A	166764320	166764320	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.031000	0.93731	2.241000	0.73720	0.533000	0.62120	TTC		0.413	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1		337.727435	19	19	199	199	NM_002977		103	337.847344	337.847344	114	0.474654	0	0	0	1	0	103	114	0.474654	G	167056074	A	G	167056074	3	3	77	1	0	0	0	0	1	0	0	0	13925	246	9	4	895	4	SCN9A	2	167056074	Missense_Mutation	SNP	A	TCGA-YZ-A982-01A-11D-A39W-08		167056074	76143299	5	1453											
SPEG	10290	broad.mit.edu	37	2	220352973	220352973	+	Missense_Mutation	SNP	C	C	G			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr2:220352973C>G	ENST00000312358.7	+	32	7931	c.7799C>G	c.(7798-7800)gCa>gGa	p.A2600G	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2600	Ig-like 9.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAGGGGGAGGCAGCCACCCTG	0.602																																						ENST00000312358.7											0			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(7798-7800)gCa>gGa	SPEG complex locus						59	63	62					2																	220352973		2043	4203	6246	SO:0001583	missense	10290			muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220352973C>G	BC006346	BC006346	CCDS42824.1, CCDS54432.1	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	"Immunoglobulin superfamily / I-set domain containing"	16901	16901	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615950	615950	"aortic preferentially expressed gene 1"	APEG1	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	8663449, 10973969	Standard	Standard	NM_005876	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	uc010fwg.3	Q15772	Q15772	OTTHUMG00000058925	OTTHUMG00000058925	ENST00000312358.7:c.7799C>G	2.37:g.220352973C>G	ENSP00000311684:p.Ala2600Gly		AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.A2600G	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	32	7931	+		Renal(207;0.0183)	2600	Ig-like 9.	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.7799C>G	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624120	0.66901	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.68181	-0.31	4.89	3.95	0.45737	4.89	3.95	0.45737	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38778	N	0.001570	T	0.63698	0.2533	L	0.31476	0.935	0.80722	D	1	P	0.52170	0.951	P	0.52343	0.696	T	0.61302	-0.7090	10	0.28530	T	0.3	.	14.5901	0.68359	0.0:0.8533:0.1467:0.0	.	2600	Q15772	SPEG_HUMAN	G	2600	ENSP00000311684:A2600G	ENSP00000265327:A2600G	A	+	2	0	0	SPEG	220061217	220061217	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.917000	0.69989	2.282000	0.76494	0.591000	0.81541	GCA		0.602	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		57.500203	5	5	94	94	NM_005876		20	58.966258	58.966258	40	0.333333	0	0	0	1	0	20	40	0.333333	G	220352973	C	G	220352973	3	3	77	1	0	0	0	0	1	0	0	0	15035	710	25	5	7937	5	SPEG	2	220352973	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	53296899	220352973	22846400	6	1454											
IGSF10	285313	broad.mit.edu	37	3	151165887	151165887	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr3:151165887C>T	ENST00000282466.3	-	4	1881	c.1882G>A	c.(1882-1884)Ggc>Agc	p.G628S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	628	Ig-like C2-type 2.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTAATGTGCCATTGTTTAGA	0.418																																						ENST00000282466.3											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1882-1884)Ggc>Agc	immunoglobulin superfamily, member 10						178	157	164					3																	151165887		2203	4300	6503	SO:0001583	missense	285313			cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165887C>T	AY273815	AY273815	CCDS3160.1	CCDS3160.1	3q25.1	2013-01-11			2013-01-11			ENSG00000152580	ENSG00000152580	ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	"Immunoglobulin superfamily / I-set domain containing"	26384	26384	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_178822	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	uc011bod.2	Q6WRI0	Q6WRI0	OTTHUMG00000159856	OTTHUMG00000159856	ENST00000282466.3:c.1882G>A	3.37:g.151165887C>T	ENSP00000282466:p.Gly628Ser			p.G628S	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1881	-			628	Ig-like C2-type 2.	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1882G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279642	0.59758	.	.	ENSG00000152580	ENST00000282466	T	0.35605	1.3	5.35	4.47	0.54385	5.35	4.47	0.54385	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.284299	0.24806	N	0.035443	T	0.61375	0.2342	M	0.85041	2.73	0.46167	D	0.998908	D	0.69078	0.997	D	0.64506	0.926	T	0.66889	-0.5809	10	0.52906	T	0.07	.	13.9244	0.63952	0.0:0.9264:0.0:0.0736	.	628	Q6WRI0	IGS10_HUMAN	S	628	ENSP00000282466:G628S	ENSP00000282466:G628S	G	-	1	0	0	IGSF10	152648577	152648577	1.000000	0.71417	0.102000	0.21198	0.371000	0.29859	4.646000	0.61411	1.248000	0.43934	0.655000	0.94253	GGC		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		42.608711	8	8	116	116	NM_178822		18	47.605276	47.605276	59	0.233766	0	0	0	1	0	18	59	0.233766	T	151165887	C	T	151165887	3	4	77	1	0	0	0	0	1	0	0	0	7597	594	21	3	6049	3	IGSF10	3	151165887	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		151165887	46856543	7	1455											
PPM1L	151742	broad.mit.edu	37	3	160786656	160786656	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr3:160786656G>A	ENST00000498165.1	+	4	895	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.R138Q|PPM1L_ENST00000464260.1_Missense_Mutation_p.R86Q	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	265	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GCCATGTCTCGGTCCCTGGGG	0.512																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1											0			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(793-795)cGg>cAg	protein phosphatase, Mg2+/Mn2+ dependent, 1L						82	80	81					3																	160786656		2203	4300	6503	SO:0001583	missense	151742			protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160786656G>A	AK055115	AK055115	CCDS33886.1	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	ENSG00000163590	ENSG00000163590	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	16381	16381	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"PP2Cepsilon", "Protein phosphatase 2C epsilon isoform"	"PP2Cepsilon", "Protein phosphatase 2C epsilon isoform"	611931	611931	"protein phosphatase 1 (formerly 2C)-like"		"protein phosphatase 1 (formerly 2C)-like"			12556533	12556533	Standard	Standard	XM_006713507	XM_006713507		Approved	PP2CE	uc003fdr.3	uc003fdr.3	Q5SGD2	Q5SGD2	OTTHUMG00000159048	OTTHUMG00000159048	ENST00000498165.1:c.794G>A	3.37:g.160786656G>A	ENSP00000417659:p.Arg265Gln		PPM1L_ENST00000295839.9_Missense_Mutation_p.R138Q|PPM1L_ENST00000464260.1_Missense_Mutation_p.R86Q|PPM1L_ENST00000480117.1_3'UTR	p.R265Q	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		4	895	+			265	PP2C-like.	Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.794G>A	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396248	0.96009	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.59638	0.25;0.25;0.25	5.27	5.27	0.74061	5.27	5.27	0.74061	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92512	0.6017	10	0.87932	D	0	.	17.8556	0.88761	0.0:0.0:1.0:0.0	.	138;265	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	Q	265;86;138	ENSP00000417659:R265Q;ENSP00000420746:R86Q;ENSP00000295839:R138Q	ENSP00000295839:R138Q	R	+	2	0	0	PPM1L	162269350	162269350	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	9.447000	0.97595	2.476000	0.83614	0.555000	0.69702	CGG		0.512	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1		-3.048509	5	5	50	50	NM_139245		4	9.441278	9.441278	59	0.063492	0	0	0	1	0	4	59	0.063492	A	160786656	G	A	160786656	3	1	77	1	0	0	0	0	1	0	0	0	12344	1116	39	1	808	1	PPM1L	3	160786656	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	9620769	160786656	37235774	8	1456											
ANK2	287	broad.mit.edu	37	4	114274935	114274935	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr4:114274935G>A	ENST00000357077.4	+	38	5214	c.5161G>A	c.(5161-5163)Gct>Act	p.A1721T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A1688T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1721					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)		AGGTTTACAAGCTAGTGCAGA	0.423																																						ENST00000357077.4											0			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						c.(5161-5163)Gct>Act	ankyrin 2, neuronal						167	175	172					4																	114274935		2203	4300	6503	SO:0001583	missense	287			axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274935G>A	M37123	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362	ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	493	493	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			106410	106410	"long (electrocardiographic) QT syndrome 4"	LQT4	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	7485162, 12571597	Standard	Standard	NM_001148	NM_001148		Approved		uc003ibe.4	uc003ibe.4	Q01484	Q01484	OTTHUMG00000132912	OTTHUMG00000132912	ENST00000357077.4:c.5161G>A	4.37:g.114274935G>A	ENSP00000349588:p.Ala1721Thr		ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A1688T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	p.A1721T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5214	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1688		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5161G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.862920	0.00064	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67345	-0.25;-0.26	5.51	-2.69	0.06022	5.51	-2.69	0.06022	.	1.019830	0.07828	N	0.960992	T	0.50514	0.1620	L	0.36672	1.1	0.09310	N	1	B;B	0.16166	0.003;0.016	B;B	0.11329	0.002;0.006	T	0.30966	-0.9960	9	.	.	.	.	7.1289	0.25488	0.397:0.2027:0.4003:0.0	.	1688;1721	Q01484;Q01484-4	ANK2_HUMAN;.	T	1721;1688	ENSP00000349588:A1721T;ENSP00000264366:A1688T	.	A	+	1	0	0	ANK2	114494384	114494384	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.017000	0.12590	-0.496000	0.06650	-0.768000	0.03414	GCT		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		341.674806	9	9	205	205	NM_001148		106	343.384366	343.384366	69	0.605714	0	0	0	1	0	106	69	0.605714	A	114274935	G	A	114274935	3	1	77	1	0	0	0	0	1	0	0	0	621	971	34	2	5376	2	ANK2	4	114274935	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		114274935	76879341	9	1457											
PGBD1	84547	broad.mit.edu	37	6	28268896	28268896	+	Missense_Mutation	SNP	T	T	G			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr6:28268896T>G	ENST00000405948.2	+	7	1685	c.1265T>G	c.(1264-1266)cTt>cGt	p.L422R	PGBD1_ENST00000259883.3_Missense_Mutation_p.L422R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	422						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGTAGAGCTTTTTGAATTA	0.358																																						ENST00000405948.2											0			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1264-1266)cTt>cGt	piggyBac transposable element derived 1						78	84	82					6																	28268896		2199	4293	6492	SO:0001583	missense	84547			viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28268896T>G	D88259	D88259	CCDS4648.1	CCDS4648.1	6p22.1	2013-01-09			2013-01-09			ENSG00000137338	ENSG00000137338	ENSG00000137338	ENSG00000137338		"-"	"-"	19398	19398	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001184743	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	uc003nkz.3	Q96JS3	Q96JS3	OTTHUMG00000014520	OTTHUMG00000014520	ENST00000405948.2:c.1265T>G	6.37:g.28268896T>G	ENSP00000385213:p.Leu422Arg		PGBD1_ENST00000259883.3_Missense_Mutation_p.L422R	p.L422R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			7	1685	+			422		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1265T>G	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.888013	0.52014	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.22336	1.96;1.96	4.54	4.54	0.55810	4.54	4.54	0.55810	.	0.193558	0.25789	N	0.028285	T	0.25457	0.0619	L	0.59436	1.845	0.35363	D	0.788404	D	0.62365	0.991	P	0.60541	0.876	T	0.05225	-1.0898	10	0.59425	D	0.04	-23.6211	10.4662	0.44609	0.0:0.0:0.0:1.0	.	422	Q96JS3	PGBD1_HUMAN	R	422	ENSP00000385213:L422R;ENSP00000259883:L422R	ENSP00000259883:L422R	L	+	2	0	0	PGBD1	28376875	28376875	0.984000	0.35163	0.996000	0.52242	0.979000	0.70002	1.793000	0.38764	2.039000	0.60335	0.533000	0.62120	CTT		0.358	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		354.834423	-24	-24	104	104			108	357.056878	357.056878	66	0.62069	0	0	0	1	0	108	66	0.62069	G	28268896	T	G	28268896	3	3	77	1	0	0	0	0	1	0	0	0	11780	1609	56	5	1287	5	PGBD1	6	28268896	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08		28268896	142846171	10	1458											
C6orf211	79624	broad.mit.edu	37	6	151790148	151790148	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr6:151790148G>A	ENST00000367294.3	+	5	1488	c.1229G>A	c.(1228-1230)gGt>gAt	p.G410D	C6orf211_ENST00000545879.1_Missense_Mutation_p.G291D	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	410										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ATTCAGGTTGGTCTGCAGCCT	0.478																																						ENST00000367294.3											0			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(1228-1230)gGt>gAt	chromosome 6 open reading frame 211						36	40	39					6																	151790148		2155	4277	6432	SO:0001583	missense	79624					protein binding	g.chr6:151790148G>A	AJ420548	AJ420548	CCDS5233.1, CCDS69224.1	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			2013-01-07			ENSG00000146476	ENSG00000146476	ENSG00000146476	ENSG00000146476				17872	17872	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001286562	NM_001286562		Approved	FLJ12910	uc003qok.1	uc003qok.1	Q9H993	Q9H993	OTTHUMG00000015838	OTTHUMG00000015838	ENST00000367294.3:c.1229G>A	6.37:g.151790148G>A	ENSP00000356263:p.Gly410Asp		C6orf211_ENST00000545879.1_Missense_Mutation_p.G291D	p.G410D	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	5	1488	+			410		Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.1229G>A	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118330	0.94385	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.07021	3.23;3.23	6.16	6.16	0.99307	6.16	6.16	0.99307	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50398	-0.8833	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	410	Q9H993	CF211_HUMAN	D	410;291	ENSP00000356263:G410D;ENSP00000444121:G291D	ENSP00000356263:G410D	G	+	2	0	0	C6orf211	151831841	151831841	1.000000	0.71417	0.946000	0.38457	0.940000	0.58332	9.526000	0.98042	2.937000	0.99478	0.650000	0.86243	GGT		0.478	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1		56.110152	6	6	65	65	NM_024573		19	57.04484	57.04484	34	0.358491	0	0	0	1	0	19	34	0.358491	A	151790148	G	A	151790148	3	1	77	1	0	0	0	0	1	0	0	0	2354	1261	44	3	1247	3	C6orf211	6	151790148	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	123521252	151790148	19324919	11	1459											
MRPS24	64951	hgsc.bcm.edu	37	7	43906327	43906327	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr7:43906327G>A	ENST00000317534.5	-	4	536	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	MRPS24_ENST00000467084.1_5'Flank|URGCP-MRPS24_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	159					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						ACCTTTGAGGGCACAGTTTGG	0.468																																																	0																	80	82	81					7																	43906327		2203	4300	6503	SO:0001583	missense	64951							AB061207	AB061207	CCDS5473.1	CCDS5473.1	7p14	2012-09-13			2012-09-13			ENSG00000062582	ENSG00000062582	ENSG00000062582	ENSG00000062582		"Mitochondrial ribosomal proteins / small subunits"	"Mitochondrial ribosomal proteins / small subunits"	14510	14510	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611986	611986						8127713, 11279123	8127713, 11279123	Standard	Standard	NM_032014	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	uc003tit.1	Q96EL2	Q96EL2	OTTHUMG00000023175	OTTHUMG00000023175	ENST00000317534.5:c.475C>T	7.37:g.43906327G>A	ENSP00000318158:p.Pro159Ser																	A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	ENST00000317534.5	37		CCDS5473.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216026	0.58452	.	.	ENSG00000062582	ENST00000317534	T	0.40225	1.04	5.07	5.07	0.68467	5.07	5.07	0.68467	.	0.312621	0.36374	N	0.002622	T	0.54983	0.1892	M	0.64997	1.995	0.35726	D	0.817525	D	0.59767	0.986	P	0.60886	0.88	T	0.62267	-0.6890	10	0.33141	T	0.24	.	11.799	0.52116	0.0:0.1774:0.8226:0.0	.	159	Q96EL2	RT24_HUMAN	S	159	ENSP00000318158:P159S	ENSP00000318158:P159S	P	-	1	0	0	MRPS24	43872852	43872852	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.611000	0.54132	2.359000	0.80004	0.643000	0.83706	CCC		0.468	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1			15	15	86	86	NM_032014		5			91							5	91		A	43906327	G	A	43906327	3	1	77	1	0	0	0	0	1	0	0	0	9835	1203	42	2	32	2	MRPS24	7	43906327	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		43906327	115232336	12	1460											
MUC17	140453	broad.mit.edu	37	7	100679352	100679352	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr7:100679352G>A	ENST00000306151.4	+	3	4719	c.4655G>A	c.(4654-4656)aGt>aAt	p.S1552N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1552	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCAAGCCAGTTCATCTCCT	0.488																																						ENST00000306151.4											0			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4654-4656)aGt>aAt	mucin 17, cell surface associated						264	243	250					7																	100679352		2203	4300	6503	SO:0001583	missense	140453				extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679352G>A	AJ606307	AJ606307	CCDS34711.1	CCDS34711.1	7q22	2007-01-17	2006-03-14		2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876	ENSG00000169876	ENSG00000169876		"Mucins"	"Mucins"	16800	16800	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608424	608424						11855812	11855812	Standard	Standard	NM_001040105	NM_001040105		Approved		uc003uxp.1	uc003uxp.1	Q685J3	Q685J3	OTTHUMG00000157030	OTTHUMG00000157030	ENST00000306151.4:c.4655G>A	7.37:g.100679352G>A	ENSP00000302716:p.Ser1552Asn			p.S1552N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4719	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1552	59 X approximate tandem repeats.|Ser-rich.	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4655G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.785	-0.481048	0.04383	.	.	ENSG00000169876	ENST00000306151	T	0.01998	4.51	0.922	-0.204	0.13200	0.922	-0.204	0.13200	.	.	.	.	.	T	0.01189	0.0039	L	0.27053	0.805	0.09310	N	1	P	0.47604	0.898	B	0.28638	0.092	T	0.51647	-0.8679	9	0.24483	T	0.36	.	4.9771	0.14146	0.0:0.4345:0.5654:0.0	.	1552	Q685J3	MUC17_HUMAN	N	1552	ENSP00000302716:S1552N	ENSP00000302716:S1552N	S	+	2	0	0	MUC17	100466072	100466072	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-1.672000	0.01952	-0.040000	0.13580	0.121000	0.15741	AGT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		3.020481	78	78	357	357	NM_001040105		11	25.526268	25.526268	118	0.085271	0	0	0	1	0	11	118	0.085271	A	100679352	G	A	100679352	3	1	77	1	0	0	0	0	1	0	0	0	9974	1029	36	3	4665	3	MUC17	7	100679352	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	56773025	100679352	58459311	13	1461											
TP53INP1	94241	broad.mit.edu	37	8	95952120	95952120	+	Silent	SNP	C	C	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr8:95952120C>T	ENST00000342697.4	-	3	848	c.441G>A	c.(439-441)ggG>ggA	p.G147G	TP53INP1_ENST00000448464.2_Silent_p.G147G|TP53INP1_ENST00000378776.4_Silent_p.G147G|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	147					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					ATTCATCAGTCCCACGGGTGG	0.463																																						ENST00000342697.4											0			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(439-441)ggG>ggA	tumor protein p53 inducible nuclear protein 1						122	107	112					8																	95952120		2203	4300	6503	SO:0001819	synonymous_variant	0			apoptosis	PML body		g.chr8:95952120C>T	AF409115	AF409115	CCDS6265.1, CCDS47899.1	CCDS6265.1, CCDS47899.1	8q22	2004-03-11			2004-03-11				ENSG00000164938		ENSG00000164938				18022	18022	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606185	606185						11511362, 12438758	11511362, 12438758	Standard	Standard	NM_033285	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	uc003yhg.3	Q96A56	Q96A56			ENST00000342697.4:c.441G>A	8.37:g.95952120C>T			NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.G147G|TP53INP1_ENST00000378776.4_Silent_p.G147G	p.G147G	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	848	-	Breast(36;8.75e-07)		147		B2RCE5|Q969R9	Silent	SNP	ENST00000342697.4	37	c.441G>A	CCDS6265.1																																																																																									0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1		37.856316	27	27	72	72			16	43.947089	43.947089	61	0.207792	0	0	0	1	0	16	61	0.207792	T	95952120	C	T	95952120	2	4	77	1	0	0	0	0	0	0	0	1	16385	842	30	3		3	TP53INP1	8	95952120	Silent	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		95952120	50411902	14	1462											
NFX1	4799	broad.mit.edu	37	9	33301353	33301353	+	Missense_Mutation	SNP	A	A	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr9:33301353A>T	ENST00000379540.3	+	3	1188	c.1126A>T	c.(1126-1128)Agc>Tgc	p.S376C	NFX1_ENST00000379521.4_Missense_Mutation_p.S376C|NFX1_ENST00000318524.6_Missense_Mutation_p.S376C	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	376					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAGTTGTCAGAGCTGTTACCA	0.418																																						ENST00000379540.3											0			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1126-1128)Agc>Tgc	nuclear transcription factor, X-box binding 1						217	205	209					9																	33301353		2203	4300	6503	SO:0001583	missense	0			inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33301353A>T	U19759	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			2013-12-13			ENSG00000086102	ENSG00000086102	ENSG00000086102	ENSG00000086102				7803	7803	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603255	603255						7964459, 2511169	7964459, 2511169	Standard	Standard	NM_002504	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	uc003zsq.3	Q12986	Q12986	OTTHUMG00000019772	OTTHUMG00000019772	ENST00000379540.3:c.1126A>T	9.37:g.33301353A>T	ENSP00000368856:p.Ser376Cys		NFX1_ENST00000318524.6_Missense_Mutation_p.S376C|NFX1_ENST00000379521.4_Missense_Mutation_p.S376C	p.S376C	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	3	1188	+			376		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.1126A>T	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242547	0.79912	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.43688	0.94;0.94;0.94	5.76	4.63	0.57726	5.76	4.63	0.57726	Zinc finger, PHD-finger (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (2);	0.117858	0.85682	D	0.000000	T	0.57169	0.2035	L	0.60957	1.885	0.51012	D	0.999908	D;D;B;D;P	0.89917	1.0;0.999;0.295;1.0;0.461	D;P;B;D;B	0.72075	0.976;0.907;0.067;0.936;0.236	T	0.58042	-0.7706	10	0.66056	D	0.02	-5.4191	9.7406	0.40416	0.9185:0.0:0.0815:0.0	.	376;260;376;376;376	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	C	376	ENSP00000368856:S376C;ENSP00000368836:S376C;ENSP00000317695:S376C	ENSP00000317695:S376C	S	+	1	0	0	NFX1	33291353	33291353	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.290000	0.72712	1.015000	0.39444	0.450000	0.29827	AGC		0.418	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		73.750870	5	5	125	125			28	79.419393	79.419393	80	0.259259	0	0	0	1	0	28	80	0.259259	T	33301353	A	T	33301353	3	4	77	1	0	0	0	0	1	0	0	0	10387	304	11	5	1136	5	NFX1	9	33301353	Missense_Mutation	SNP	A	TCGA-YZ-A982-01A-11D-A39W-08		33301353	107912078	15	1463											
ASB6	140459	broad.mit.edu	37	9	132400196	132400196	+	Missense_Mutation	SNP	C	C	T	rs371398374		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr9:132400196C>T	ENST00000277458.4	-	6	1304	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	ASB6_ENST00000450050.2_Missense_Mutation_p.R301H|ASB6_ENST00000277459.4_3'UTR|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	380	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GATGGCCACACGGCACAGGTG	0.622																																						ENST00000277458.4											0			NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(1138-1140)cGt>cAt	ankyrin repeat and SOCS box containing 6	C	HIS/ARG,HIS/ARG,	0,4406		0,0,2203	49	49	49		1052,1139,	4.1	0.9	9		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3	ASB6	NM_001202403.1,NM_017873.3,NM_177999.2	29,29,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	351/393,380/422,	132400196	1,13005	2203	4300	6503	SO:0001583	missense	140459			intracellular signal transduction	cytoplasm		g.chr9:132400196C>T			CCDS6924.1, CCDS6925.1, CCDS75919.1	CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331	ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	17181	17181	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615051	615051	"ankyrin repeat and SOCS box-containing 6"		"ankyrin repeat and SOCS box-containing 6"					Standard	Standard	NM_017873	NM_017873		Approved		uc004byf.2	uc004byf.2	Q9NWX5	Q9NWX5	OTTHUMG00000020787	OTTHUMG00000020787	ENST00000277458.4:c.1139G>A	9.37:g.132400196C>T	ENSP00000277458:p.Arg380His		ASB6_ENST00000450050.2_Missense_Mutation_p.R301H|ASB6_ENST00000277459.4_3'UTR	p.R380H	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			6	1304	-		Ovarian(14;0.00556)	380	SOCS box.	Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.1139G>A	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392911	0.83011	0.0	1.16E-4	ENSG00000148331	ENST00000277458;ENST00000450050	D;D	0.85861	-2.04;-2.04	5.06	4.13	0.48395	5.06	4.13	0.48395	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.64687	0.928;0.928;0.928	D	0.90727	0.4639	10	0.59425	D	0.04	-34.9039	14.1624	0.65454	0.1497:0.8503:0.0:0.0	.	301;380;380	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	H	380;301	ENSP00000277458:R380H;ENSP00000416172:R301H	ENSP00000277458:R380H	R	-	2	0	0	ASB6	131440017	131440017	0.999000	0.42202	0.921000	0.36526	0.826000	0.46750	4.145000	0.58065	2.635000	0.89317	0.462000	0.41574	CGT		0.622	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1		56.780252	23	23	64	64	NM_017873		17	56.968595	56.968595	12	0.586207	0	0	0	1	0	17	12	0.586207	T	132400196	C	T	132400196	3	4	77	1	0	0	0	0	1	0	0	0	1027	536	19	1	130	1	ASB6	9	132400196	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	99098843	132400196	8813235	16	1464											
CCDC73	493860	broad.mit.edu	37	11	32637519	32637520	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr11:32637519_32637520insT	ENST00000335185.5	-	15	1384_1385	c.1341_1342insA	c.(1339-1344)aaagaafs	p.E448fs	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	448										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AATGAGCCTTCTTTTTTTTCTT	0.248																																						ENST00000335185.5											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(1339-1344)aaagaafs	coiled-coil domain containing 73																																			SO:0001589	frameshift_variant	493860						g.chr11:32637519_32637520insT	AK128159	AK128159	CCDS41630.1	CCDS41630.1	11p13	2006-02-11			2006-02-11			ENSG00000186714	ENSG00000186714	ENSG00000186714	ENSG00000186714				23261	23261	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612328	612328								Standard	Standard	NM_001008391	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	uc001mtv.4	Q6ZRK6	Q6ZRK6	OTTHUMG00000166279	OTTHUMG00000166279	ENST00000335185.5:c.1342dupA	11.37:g.32637527_32637527dupT	ENSP00000335325:p.Glu448fs		CCDC73_ENST00000534415.1_5'UTR	p.E448fs	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			15	1384_1385	-	Breast(20;0.112)		448		Q6P5Q7|Q6ZMW0|Q86WE7	Frame_Shift_Ins	INS	ENST00000335185.5	37	c.1341_1342insA	CCDS41630.1																																																																																									0.248	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	.	.	-17	-17	24	24	NM_001008391		2			4	0.33						2	4	0.33	T	32637520	-	T	32637519	7	5	77	1	0	1	1	0	0	0	0	0	2846	922	32	0	1913	0	CCDC73	11	32637519	Frame_Shift_Ins	INS	-	TCGA-YZ-A982-01A-11D-A39W-08		32637519	102368997	17	1465											
C13orf36	400120	broad.mit.edu	37	13	37269336	37269336	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr13:37269336G>A	ENST00000315190.3	+	2	567	c.121G>A	c.(121-123)Gtc>Atc	p.V41I		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	41						integral component of membrane (GO:0016021)											CCTGTCAAACGTCTACATCTA	0.473																																						ENST00000315190.3											0										c.(121-123)Gtc>Atc	serine-rich and transmembrane domain containing 1						242	207	219					13																	37269336		2203	4300	6503	SO:0001583	missense	400120				integral to membrane		g.chr13:37269336G>A			CCDS9358.1	CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440	ENSG00000180440	ENSG00000180440				33792	33792	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 13 open reading frame 36"	C13orf36	"chromosome 13 open reading frame 36"	C13orf36				Standard	Standard	NM_203451	NM_203451		Approved		uc001uvt.4	uc001uvt.4	A2A2V5	A2A2V5	OTTHUMG00000016735	OTTHUMG00000016735	ENST00000315190.3:c.121G>A	13.37:g.37269336G>A	ENSP00000325776:p.Val41Ile			p.V41I	NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN			2	567	+			41		Q8N469	Missense_Mutation	SNP	ENST00000315190.3	37	c.121G>A	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392539	0.62066	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.068670	0.56097	D	0.000023	T	0.41511	0.1162	N	0.19112	0.55	0.41441	D	0.987924	P	0.44776	0.843	B	0.39904	0.313	T	0.51434	-0.8706	9	0.87932	D	0	-25.5942	17.4901	0.87701	0.0:0.0:1.0:0.0	.	41	A2A2V5	SRTM1_HUMAN	I	41	.	ENSP00000325776:V41I	V	+	1	0	0	SERTM1	36167336	36167336	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.830000	0.69324	2.345000	0.79718	0.563000	0.77884	GTC		0.473	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2		-23.516816	15	15	137	137	NM_203451		7	13.851158	13.851158	159	0.042169	0	0	0	1	0	7	159	0.042169	A	37269336	G	A	37269336	3	1	77	1	0	0	0	0	1	0	0	0	1730	1145	40	1	123	1	C13orf36	13	37269336	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		37269336	77900542	18	1466											
CYSLTR2	57105	broad.mit.edu	37	13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATTTATTTCCTGACCGTGCTG	0.468																																						ENST00000282018.3											0			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(385-387)cTg>cAg	cysteinyl leukotriene receptor 2						209	201	204					13																	49281339		2203	4300	6503	SO:0001583	missense	57105			immune response	integral to membrane|plasma membrane		g.chr13:49281339T>A	AB038269	AB038269	CCDS9412.1	CCDS9412.1	13q14.2	2012-08-10			2012-08-10			ENSG00000152207	ENSG00000152207	ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	"GPCR / Class A : Leukotriene receptors"	18274	18274	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605666	605666						10913337, 1085123	10913337, 1085123	Standard	Standard	NM_020377	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	uc001vck.2	Q9NS75	Q9NS75	OTTHUMG00000016906	OTTHUMG00000016906	ENST00000282018.3:c.386T>A	13.37:g.49281339T>A	ENSP00000282018:p.Leu129Gln			p.L129Q	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	389	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	129		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.386T>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679001	0.88542	.	.	ENSG00000152207	ENST00000282018	D	0.81579	-1.51	6.08	6.08	0.98989	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	D	0.93756	0.8004	H	0.97783	4.075	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.95820	0.8849	10	0.87932	D	0	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	129	Q9NS75	CLTR2_HUMAN	Q	129	ENSP00000282018:L129Q	ENSP00000282018:L129Q	L	+	2	0	0	CYSLTR2	48179340	48179340	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.004000	0.88535	2.333000	0.79357	0.533000	0.62120	CTG		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		327.125322	35	35	188	188			102	327.764818	327.764818	128	0.443478	0	0	0	1	0	102	128	0.443478	A	49281339	T	A	49281339	3	1	77	1	0	0	0	0	1	0	0	0	4202	1580	55	5	388	5	CYSLTR2	13	49281339	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08	12012003	49281339	65888539	19	1467											
SPRY2	10253	broad.mit.edu	37	13	80911791	80911791	+	Missense_Mutation	SNP	G	G	A	rs372480996		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr13:80911791G>A	ENST00000377102.1	-	2	1027	c.50C>T	c.(49-51)aCg>aTg	p.T17M	SPRY2_ENST00000540649.1_Missense_Mutation_p.T17M|SPRY2_ENST00000377104.3_Missense_Mutation_p.T17M			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	17					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GTCACGGGGCGTCTGCAGCAA	0.607																																						ENST00000377102.1											0			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12						c.(49-51)aCg>aTg	sprouty homolog 2 (Drosophila)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	58	60	59		50	3.5	0.2	13		59	0,8600		0,0,4300	no	missense	SPRY2	NM_005842.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	17/316	80911791	1,13005	2203	4300	6503	SO:0001583	missense	10253			epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911791G>A	AF039843	AF039843	CCDS9463.1	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158	ENSG00000136158	ENSG00000136158				11270	11270	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602466	602466	"sprouty (Drosophila) homolog 2"		"sprouty (Drosophila) homolog 2"			9458049	9458049	Standard	Standard	NM_005842	NM_005842		Approved	hSPRY2	uc001vlj.3	uc001vlj.3	O43597	O43597	OTTHUMG00000017140	OTTHUMG00000017140	ENST00000377102.1:c.50C>T	13.37:g.80911791G>A	ENSP00000366306:p.Thr17Met		SPRY2_ENST00000540649.1_Missense_Mutation_p.T17M|SPRY2_ENST00000377104.3_Missense_Mutation_p.T17M	p.T17M			O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1027	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	17		B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	c.50C>T	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158497	0.21454	2.27E-4	0.0	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.55588	0.51;0.51;0.51	5.2	3.45	0.39498	5.2	3.45	0.39498	.	0.558410	0.19137	N	0.121790	T	0.29190	0.0726	N	0.08118	0	0.24756	N	0.992952	B	0.06786	0.001	B	0.04013	0.001	T	0.17018	-1.0383	10	0.54805	T	0.06	1.0E-4	6.2473	0.20825	0.0725:0.1336:0.6553:0.1386	.	17	O43597	SPY2_HUMAN	M	17	ENSP00000366308:T17M;ENSP00000366306:T17M;ENSP00000439027:T17M	ENSP00000366306:T17M	T	-	2	0	0	SPRY2	79809792	79809792	0.695000	0.27747	0.199000	0.23439	0.956000	0.61745	1.187000	0.32090	0.588000	0.29660	0.650000	0.86243	ACG		0.607	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1		139.773313	26	26	102	102			45	139.775679	139.775679	46	0.494505	0	0	0	1	0	45	46	0.494505	A	80911791	G	A	80911791	3	1	77	1	0	0	0	0	1	0	0	0	15105	1145	40	1	901	1	SPRY2	13	80911791	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	31630452	80911791	34258087	20	1468											
KIAA1370	56204	broad.mit.edu	37	15	52903343	52903343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr15:52903343G>A	ENST00000261844.7	-	5	666	c.514C>T	c.(514-516)Cga>Tga	p.R172*	FAM214A_ENST00000546305.2_Nonsense_Mutation_p.R179*	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	172																	AGAATATTTCGTGGAATAGCA	0.413																																						ENST00000261844.7											0										c.(514-516)Cga>Tga	family with sequence similarity 214, member A						120	117	118					15																	52903343		1868	4107	5975	SO:0001587	stop_gained	56204						g.chr15:52903343G>A	AB037791	AB037791	CCDS45263.1, CCDS66773.1	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346	ENSG00000047346	ENSG00000047346				25609	25609	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"KIAA1370"	KIAA1370	"KIAA1370"	KIAA1370		10718198	10718198	Standard	Standard	XM_005254547	XM_005254547		Approved	FLJ10980	uc002acg.4	uc002acg.4	Q32MH5	Q32MH5			ENST00000261844.7:c.514C>T	15.37:g.52903343G>A	ENSP00000261844:p.Arg172*		FAM214A_ENST00000546305.2_Nonsense_Mutation_p.R179*	p.R172*	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			5	666	-			172		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Nonsense_Mutation	SNP	ENST00000261844.7	37	c.514C>T	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	G	35	5.541354	0.96474	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	.	.	.	6.17	5.25	0.73442	6.17	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9456	0.86229	0.0:0.0:0.8711:0.1289	.	.	.	.	X	172;172;171;179	.	ENSP00000261844:R172X	R	-	1	2	2	KIAA1370	50690635	50690635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.702000	0.47102	1.602000	0.50124	0.655000	0.94253	CGA		0.413	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1		19.976668	12	12	91	91	NM_019600		11	28.741902	28.741902	63	0.148649	0	0	0	1	0	11	63	0.148649	A	52903343	G	A	52903343	4	1	77	1	0	0	0	0	0	1	0	0	8226	1153	40	1	2752	1	KIAA1370	15	52903343	Nonsense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		52903343	49628049	21	1469											
COMMD4	54939	ucsc.edu	37	15	75632318	75632318	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr15:75632318C>A	ENST00000267935.8	+	8	771	c.572C>A	c.(571-573)gCc>gAc	p.A191D	COMMD4_ENST00000567195.1_Missense_Mutation_p.A105D|COMMD4_ENST00000338995.6_Missense_Mutation_p.A132D|COMMD4_ENST00000564815.1_Missense_Mutation_p.A169D|COMMD4_ENST00000562789.1_Missense_Mutation_p.A138D	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	191	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.					cytoplasm (GO:0005737)				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CTGAAGCAGGCCCAGACCCTG	0.632																																																	0																	71	63	66					15																	75632318		2197	4294	6491	SO:0001583	missense	54939							AY542160	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			2012-09-20			ENSG00000140365	ENSG00000140365	ENSG00000140365	ENSG00000140365				26027	26027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										15799966	15799966	Standard	Standard	XM_005254511	XM_005254511		Approved	FLJ20452	uc002azy.3	uc002azy.3	Q9H0A8	Q9H0A8	OTTHUMG00000142823	OTTHUMG00000142823	ENST00000267935.8:c.572C>A	15.37:g.75632318C>A	ENSP00000267935:p.Ala191Asp																	B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37		CCDS10277.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124113	0.56613	.	.	ENSG00000140365	ENST00000267935;ENST00000338995	T	0.13538	2.58	4.95	4.03	0.46877	4.95	4.03	0.46877	COMM domain (1);	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.89715	3.055	0.34154	D	0.667854	P;D	0.71674	0.801;0.998	P;D	0.70935	0.681;0.971	T	0.64972	-0.6281	10	0.87932	D	0	.	12.1941	0.54288	0.0:0.9167:0.0:0.0833	.	132;191	Q9H0A8-2;Q9H0A8	.;COMD4_HUMAN	D	191;132	ENSP00000267935:A191D	ENSP00000267935:A191D	A	+	2	0	0	COMMD4	73419371	73419371	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.170000	0.58229	1.076000	0.40961	0.655000	0.94253	GCC		0.632	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1			2	2	50	50	NM_017828		4			29							4	29		A	75632318	C	A	75632318	3	1	77	1	0	0	0	0	1	0	0	0	3718	739	26	5	602	5	COMMD4	15	75632318	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	22728975	75632318	26899074	22	1470											
KIAA0430	9665	broad.mit.edu	37	16	15690613	15690613	+	Missense_Mutation	SNP	C	C	G			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr16:15690613C>G	ENST00000396368.3	-	27	5372	c.5166G>C	c.(5164-5166)aaG>aaC	p.K1722N	KIAA0430_ENST00000548025.1_Missense_Mutation_p.K1719N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K1410N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K1722N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.K1557N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K1719N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1722					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTTTGGGTTGCTTTTTGGCCG	0.512																																						ENST00000396368.3											0			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(5164-5166)aaG>aaC	KIAA0430						162	153	156					16																	15690613		1886	4113	5999	SO:0001583	missense	9665				peroxisome	nucleotide binding|RNA binding	g.chr16:15690613C>G	AB007890	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			2013-01-11			ENSG00000166783	ENSG00000166783	ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	29562	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593	614593						9455477, 10493829, 15932519, 22442484, 23090997	9455477, 10493829, 15932519, 22442484, 23090997	Standard	Standard	NM_014647	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	uc010uzw.2	Q9Y4F3	Q9Y4F3	OTTHUMG00000129884	OTTHUMG00000129884	ENST00000396368.3:c.5166G>C	16.37:g.15690613C>G	ENSP00000379654:p.Lys1722Asn		KIAA0430_ENST00000540441.2_Missense_Mutation_p.K1557N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K1722N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K1719N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K1719N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K1410N	p.K1722N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			27	5372	-			1721		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.5166G>C	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617441	0.87359	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	4.5	0.54988	5.45	4.5	0.54988	.	0.108400	0.64402	D	0.000008	T	0.38054	0.1026	L	0.27053	0.805	0.28490	N	0.914539	D;P;P;P	0.54772	0.968;0.897;0.897;0.947	P;P;P;B	0.48654	0.585;0.552;0.552;0.381	T	0.34004	-0.9846	9	0.72032	D	0.01	.	13.6211	0.62138	0.0:0.9258:0.0:0.0742	.	1721;1719;1718;1721	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	N	1722;1557;1662;1410;1719;1722;1588	.	ENSP00000315718:K1662N	K	-	3	2	2	KIAA0430	15598114	15598114	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.892000	0.39748	2.538000	0.85594	0.655000	0.94253	AAG		0.512	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		172.511271	-2	-2	103	103	NM_014647		51	174.538248	174.538248	25	0.671053	0	0	0	1	0	51	25	0.671053	G	15690613	C	G	15690613	3	3	77	1	0	0	0	0	1	0	0	0	8177	796	28	5	66	5	KIAA0430	16	15690613	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		15690613	74664140	23	1471											
BAHCC1	57597	broad.mit.edu	37	17	79411771	79411771	+	Missense_Mutation	SNP	T	T	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr17:79411771T>A	ENST00000307745.7	+	12	2590	c.2590T>A	c.(2590-2592)Ttc>Atc	p.F864I																								GCCCTCTGTCTTCCCCCTCCC	0.716																																						ENST00000307745.7											0										c.(2590-2592)Ttc>Atc							28	36	33					17																	79411771		2008	4155	6163	SO:0001583	missense	0						g.chr17:79411771T>A																																																	ENST00000307745.7:c.2590T>A	17.37:g.79411771T>A	ENSP00000303486:p.Phe864Ile			p.F864I							12	2590	+						Missense_Mutation	SNP	ENST00000307745.7	37	c.2590T>A		.	.	.	.	.	.	.	.	.	.	T	15.01	2.707394	0.48412	.	.	ENSG00000171282	ENST00000307745	T	0.51817	0.69	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.217184	0.30338	N	0.009858	T	0.52789	0.1756	L	0.57536	1.79	0.39085	D	0.96098	D;D	0.56287	0.958;0.975	B;P	0.50570	0.386;0.644	T	0.56854	-0.7910	10	0.37606	T	0.19	.	13.8629	0.63571	0.0:0.0:0.0:1.0	.	864;864	Q9P281;F8WBW8	BAHC1_HUMAN;.	I	864	ENSP00000303486:F864I	ENSP00000303486:F864I	F	+	1	0	0	AC110285.1	77026366	77026366	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	2.686000	0.46968	1.929000	0.55896	0.402000	0.26972	TTC		0.716	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			46.493683	-12	-12	41	41			16	46.519469	46.519469	18	0.470588	0	0	0	1	0	16	18	0.470588	A	79411771	T	A	79411771	3	1	77	1	0	0	0	0	1	0	0	0	1296	1609	56	5	2451	5	BAHCC1	17	79411771	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08		79411771	1783439	24	1472											
TBCD	6904	broad.mit.edu	37	17	80828169	80828169	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr17:80828169T>C	ENST00000355528.4	+	14	1518	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A	TBCD_ENST00000397466.2_Missense_Mutation_p.V77A|TBCD_ENST00000539345.2_Missense_Mutation_p.V463A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	463					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGCACCAACGTCAGGGACGCC	0.622																																						ENST00000355528.4											0										c.(1387-1389)gTc>gCc	tubulin folding cofactor D						49	56	54					17																	80828169		2149	4243	6392	SO:0001583	missense	6904			'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80828169T>C	BC003094	BC003094	CCDS45818.1	CCDS45818.1	17q25.3	2006-11-21	2006-11-21		2006-11-21	2006-11-21			ENSG00000141556		ENSG00000141556				11581	11581	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604649	604649	"tubulin-specific chaperone d"		"tubulin-specific chaperone d"					Standard	Standard	NM_005993	NM_005993		Approved		uc002kfz.3	uc002kfz.3	Q9BTW9	Q9BTW9			ENST00000355528.4:c.1388T>C	17.37:g.80828169T>C	ENSP00000347719:p.Val463Ala		TBCD_ENST00000397466.2_Missense_Mutation_p.V77A|TBCD_ENST00000539345.2_Missense_Mutation_p.V463A	p.V463A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		14	1518	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	463		O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.1388T>C	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000039	0.74818	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.74947	-0.89;-0.89	5.53	5.53	0.82687	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.167192	0.39146	N	0.001446	D	0.87245	0.6129	M	0.91663	3.23	0.54753	D	0.999987	P;P;D	0.55605	0.892;0.935;0.972	P;P;P	0.61800	0.459;0.661;0.894	D	0.89780	0.3960	9	.	.	.	.	13.036	0.58873	0.0:0.0:0.0:1.0	.	463;463;463	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	A	463;214;77;463	ENSP00000347719:V463A;ENSP00000380608:V77A	.	V	+	2	0	0	TBCD	78421458	78421458	1.000000	0.71417	0.996000	0.52242	0.167000	0.22549	7.211000	0.77933	2.094000	0.63399	0.533000	0.62120	GTC		0.622	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1		76.097957	3	3	59	59	NM_005993		24	76.164539	76.164539	28	0.461538	0	0	0	1	0	24	28	0.461538	C	80828169	T	C	80828169	3	2	77	1	0	0	0	0	1	0	0	0	15630	1667	58	4	1442	4	TBCD	17	80828169	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08	1416398	80828169	367041	25	1473											
MUC16	94025	broad.mit.edu	37	19	9083332	9083332	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr19:9083332G>A	ENST00000397910.4	-	1	8686	c.8483C>T	c.(8482-8484)gCc>gTc	p.A2828V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2828	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCAGACATGGCTGTAACCTC	0.502																																						ENST00000397910.4											0			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(8482-8484)gCc>gTc	mucin 16, cell surface associated						114	109	111					19																	9083332		2023	4180	6203	SO:0001583	missense	94025			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083332G>A	AF414442	AF414442	CCDS54212.1	CCDS54212.1	19p13.2	2008-02-05	2006-03-14		2008-02-05	2006-03-14			ENSG00000181143		ENSG00000181143		"Mucins"	"Mucins"	15582	15582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606154	606154						11369781	11369781	Standard	Standard	XM_006722941	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	uc002mkp.3	Q8WXI7	Q8WXI7			ENST00000397910.4:c.8483C>T	19.37:g.9083332G>A	ENSP00000381008:p.Ala2828Val			p.A2828V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	8686	-			2828	Ser-rich.|Thr-rich.	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8483C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	10.70	1.425415	0.25639	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.869	0.869	0.19096	0.869	0.869	0.19096	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	.	.	.	D	0.60575	0.988	P	0.59948	0.866	T	0.44314	-0.9336	8	0.87932	D	0	.	5.0445	0.14477	0.0:0.0:1.0:0.0	.	2828	B5ME49	.	V	2828	ENSP00000381008:A2828V	ENSP00000381008:A2828V	A	-	2	0	0	MUC16	8944332	8944332	0.001000	0.12720	0.071000	0.20095	0.869000	0.49853	0.168000	0.16622	0.740000	0.32651	0.313000	0.20887	GCC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		17.343858	16	16	39	39	NM_024690		6	17.78674	17.78674	12	0.333333	0	0	0	1	0	6	12	0.333333	A	9083332	G	A	9083332	3	1	77	1	0	0	0	0	1	0	0	0	9973	1203	42	2	35376	2	MUC16	19	9083332	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		9083332	50045651	26	1474											
ZNF844	284391	broad.mit.edu	37	19	12187762	12187762	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr19:12187762delG	ENST00000439326.3	+	4	2002	c.1827delG	c.(1825-1827)ctgfs	p.L609fs	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	609					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)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AACACACCCTGGAGAGAAACC	0.403																																						ENST00000439326.3											0			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1825-1827)ctgfs	zinc finger protein 844						107	101	103					19																	12187762		692	1591	2283	SO:0001589	frameshift_variant	284391			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187762delG	AL832297	AL832297	CCDS45985.1	CCDS45985.1	19p13.2	2013-01-08			2013-01-08			ENSG00000223547	ENSG00000223547	ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	25932	25932	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001136501	NM_001136501		Approved	FLJ14959	uc002mtb.2	uc002mtb.2	Q08AG5	Q08AG5	OTTHUMG00000156405	OTTHUMG00000156405	ENST00000439326.3:c.1827delG	19.37:g.12187762delG	ENSP00000392024:p.Leu609fs		ZNF844_ENST00000441304.2_3'UTR	p.L609fs	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	2002	+			609		Q5JPI8	Frame_Shift_Del	DEL	ENST00000439326.3	37	c.1827delG	CCDS45985.1																																																																																									0.403	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2	.	.	3	3	13	13			2			4	0.33						2	4	0.33	-	12187762	G	-	12187762	7	5	77	1	0	1	0	1	0	0	0	0	18187	1335	47	0	1841	0	ZNF844	19	12187762	Frame_Shift_Del	DEL	G	TCGA-YZ-A982-01A-11D-A39W-08	3104430	12187762	46941221	27	1475											
PPP2R1A	5518	broad.mit.edu	37	19	52724255	52724255	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	g.chr19:52724255A>C	ENST00000322088.6	+	12	1445	c.1387A>C	c.(1387-1389)Acc>Ccc	p.T463P	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.T284P|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.T408P	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	463	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CGAGGCAGCCACCAGCAACCT	0.537			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6		Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(1387-1389)Acc>Ccc	protein phosphatase 2, regulatory subunit A, alpha						107	98	101					19																	52724255		2203	4300	6503	SO:0001583	missense	5518			ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52724255A>C			CCDS12849.1	CCDS12849.1	19q13	2010-06-18	2010-04-14		2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	9302	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"		"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"					Standard	Standard	NR_033500	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	uc002pyp.3	P30153	P30153	OTTHUMG00000137367	OTTHUMG00000137367	ENST00000322088.6:c.1387A>C	19.37:g.52724255A>C	ENSP00000324804:p.Thr463Pro		PPP2R1A_ENST00000444322.2_Missense_Mutation_p.T408P|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.T284P	p.T463P	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	12	1445	+			463	PP2A subunit C binding.	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1387A>C	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.100738	0.76983	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.18016	2.24;2.24	4.5	4.5	0.54988	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000012	T	0.33147	0.0853	M	0.87827	2.91	0.58432	D	0.999998	P;B	0.36065	0.535;0.067	B;B	0.43360	0.417;0.035	T	0.29181	-1.0020	10	0.87932	D	0	-41.0631	12.1013	0.53785	1.0:0.0:0.0:0.0	.	408;463	F5H3X9;P30153	.;2AAA_HUMAN	P	453;383;463;408	ENSP00000324804:T463P;ENSP00000415067:T408P	ENSP00000324804:T463P	T	+	1	0	0	PPP2R1A	57416067	57416067	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.373000	0.90131	2.026000	0.59711	0.533000	0.62120	ACC		0.537	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2		49.695932	8	8	84	84	NM_014225		16	49.792622	49.792622	20	0.444444	0	0	0	1	0	16	20	0.444444	C	52724255	A	C	52724255	3	2	77	1	0	0	0	0	1	0	0	0	12382	159	6	5	1433	5	PPP2R1A	19	52724255	Missense_Mutation	SNP	A	TCGA-YZ-A982-01A-11D-A39W-08	40536493	52724255	6404728	28	1476											
VASH2	79805	broad.mit.edu	37	1	213146004	213146004	+	Missense_Mutation	SNP	G	G	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr1:213146004G>T	ENST00000517399.1	+	5	580	c.580G>T	c.(580-582)Gtt>Ttt	p.V194F	VASH2_ENST00000366965.2_Missense_Mutation_p.V150F|VASH2_ENST00000366968.4_Missense_Mutation_p.V129F|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_Missense_Mutation_p.V52F|VASH2_ENST00000366966.2_Missense_Mutation_p.V129F|VASH2_ENST00000366967.2_Missense_Mutation_p.V90F			Q86V25	VASH2_HUMAN	vasohibin 2	194					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		CTTTCACCACGTTGTGCTGGG	0.498																																						ENST00000366968.4											0			endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(385-387)Gtt>Ttt	vasohibin 2						114	106	109					1																	213146004		2203	4300	6503	SO:0001583	missense	79805			positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213146004G>T	AK022567	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			2008-02-05			ENSG00000143494	ENSG00000143494	ENSG00000143494	ENSG00000143494				25723	25723	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610471	610471						16528006	16528006	Standard	Standard	XR_247041	XR_247041		Approved	FLJ12505	uc001hjw.3	uc001hjw.3	Q86V25	Q86V25	OTTHUMG00000036925	OTTHUMG00000036925	ENST00000517399.1:c.580G>T	1.37:g.213146004G>T	ENSP00000428324:p.Val194Phe		VASH2_ENST00000366966.2_Missense_Mutation_p.V129F|VASH2_ENST00000366967.2_Missense_Mutation_p.V90F|VASH2_ENST00000517399.1_Missense_Mutation_p.V194F|VASH2_ENST00000366965.2_Missense_Mutation_p.V150F|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_Missense_Mutation_p.V52F	p.V129F	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	7	735	+			194		B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	c.385G>T	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112063	0.77210	.	.	ENSG00000143494	ENST00000366966;ENST00000366964;ENST00000366968;ENST00000366965;ENST00000366967;ENST00000517399	.	.	.	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.064020	0.64402	D	0.000008	T	0.76821	0.4041	L	0.59436	1.845	0.58432	D	0.999997	D;D	0.71674	0.994;0.998	P;D	0.68483	0.889;0.958	T	0.78682	-0.2109	9	0.87932	D	0	-14.1987	19.2409	0.93883	0.0:0.0:1.0:0.0	.	194;150	Q86V25;Q86V25-5	VASH2_HUMAN;.	F	129;52;129;150;90;194	.	ENSP00000355931:V52F	V	+	1	0	0	VASH2	211212627	211212627	1.000000	0.71417	0.438000	0.26821	0.871000	0.50021	5.142000	0.64820	2.620000	0.88729	0.655000	0.94253	GTT		0.498	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1		80.840821	-21	-21	82	82	NM_024749		26	81.130233	81.130233	35	0.42623	1	0	1.17739e-12	1	1.25859e-12	26	35	0.42623	T	213146004	G	T	213146004	3	4	78	1	0	0	0	0	1	0	0	0	17123	1145	40	5	598	5	VASH2	1	213146004	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		213146004	36104617	1	1477											
LRP1B	53353	broad.mit.edu	37	2	141092048	141092048	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr2:141092048A>G	ENST00000389484.3	-	79	13168	c.12197T>C	c.(12196-12198)gTa>gCa	p.V4066A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4066					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTCTTTTGTACTAAAATCCT	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3											0			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12196-12198)gTa>gCa	low density lipoprotein receptor-related protein 1B						177	162	167					2																	141092048		2203	4300	6503	SO:0001583	missense	53353			protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092048A>G	AF176832	AF176832	CCDS2182.1	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	"Low density lipoprotein receptors"	6693	6693	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	"LRP-deleted in tumors"	608766	608766						10766186	10766186	Standard	Standard	NM_018557	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	uc002tvj.1	Q9NZR2	Q9NZR2	OTTHUMG00000131799	OTTHUMG00000131799	ENST00000389484.3:c.12197T>C	2.37:g.141092048A>G	ENSP00000374135:p.Val4066Ala			p.V4066A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13168	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4066		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12197T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.796568|4.796568	0.90453|0.90453	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.96011|.	-3.88|.	6.08|6.08	6.08|6.08	0.98989|0.98989	6.08|6.08	6.08|6.08	0.98989|0.98989	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.381500|.	0.24359|.	N|.	0.039212|.	T|T	0.67477|0.67477	0.2897|0.2897	L|L	0.56769|0.56769	1.78|1.78	0.37120|0.37120	D|D	0.900784|0.900784	P|.	0.39044|.	0.656|.	B|.	0.37550|.	0.253|.	T|T	0.70085|0.70085	-0.4969|-0.4969	10|5	0.36615|.	T|.	0.2|.	.|.	16.6512|16.6512	0.85203|0.85203	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4066|.	Q9NZR2|.	LRP1B_HUMAN|.	A|H	4066;4004|298	ENSP00000374135:V4066A|.	ENSP00000374135:V4066A|.	V|Y	-|-	2|1	0|0	0|0	LRP1B|LRP1B	140808518|140808518	140808518|140808518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.837000|8.837000	0.92110|0.92110	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	GTA|TAC		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		74.648766	4	4	54	54	NM_018557		22	74.667596	74.667596	24	0.478261	0	0	0	1	0	22	24	0.478261	G	141092048	A	G	141092048	3	3	78	1	0	0	0	0	1	0	0	0	8955	391	14	4	1654	4	LRP1B	2	141092048	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08		141092048	102107325	2	1478											
GOLGA4	2803	broad.mit.edu	37	3	37368986	37368986	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr3:37368986A>C	ENST00000361924.2	+	14	5983	c.5609A>C	c.(5608-5610)cAt>cCt	p.H1870P	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1892P	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1870	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAGAAGTACATAGAGTTGAA	0.383																																						ENST00000361924.2											0			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5608-5610)cAt>cCt	golgin A4						57	59	58					3																	37368986		2203	4299	6502	SO:0001583	missense	2803			Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368986A>C	U31906	U31906	CCDS2666.1, CCDS54564.1	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674	ENSG00000144674	ENSG00000144674				4427	4427	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"golgin 245"	"golgin 245"	602509	602509	"golgi autoantigen, golgin subfamily a, 4"		"golgi autoantigen, golgin subfamily a, 4"			8626529	8626529	Standard	Standard	NM_002078	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	uc003cgw.3	Q13439	Q13439	OTTHUMG00000130799	OTTHUMG00000130799	ENST00000361924.2:c.5609A>C	3.37:g.37368986A>C	ENSP00000354486:p.His1870Pro		GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1892P	p.H1870P	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	5983	+			1870	Glu-rich.	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.5609A>C	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	9.519	1.107829	0.20714	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23754	1.9;1.89;1.89	5.11	2.58	0.30949	5.11	2.58	0.30949	.	0.000000	0.34932	N	0.003568	T	0.22282	0.0537	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.28820	0.224;0.125;0.063;0.021	B;B;B;B	0.28991	0.097;0.054;0.027;0.007	T	0.09292	-1.0681	10	0.30854	T	0.27	.	8.0355	0.30491	0.672:0.1144:0.0:0.2136	.	1870;1870;1892;1870	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	P	1870;1892;1741	ENSP00000354486:H1870P;ENSP00000349305:H1892P;ENSP00000405842:H1741P	ENSP00000349305:H1892P	H	+	2	0	0	GOLGA4	37343990	37343990	0.001000	0.12720	0.305000	0.25099	0.963000	0.63663	0.532000	0.23067	1.931000	0.55961	0.448000	0.29417	CAT		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2		83.714846	-9	-9	59	59	NM_002078		24	85.251639	85.251639	9	0.727273	0	0	0	1	0	24	9	0.727273	C	37368986	A	C	37368986	3	2	78	1	0	0	0	0	1	0	0	0	6555	217	8	5	5733	5	GOLGA4	3	37368986	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08		37368986	160653444	3	1479											
TMEM39A	55254	broad.mit.edu	37	3	119155786	119155786	+	Missense_Mutation	SNP	G	G	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr3:119155786G>C	ENST00000319172.5	-	7	1384	c.964C>G	c.(964-966)Ctc>Gtc	p.L322V	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	322						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACCATAATGAGGTGCTCACAT	0.468																																						ENST00000319172.5											0			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(964-966)Ctc>Gtc	transmembrane protein 39A						241	216	224					3																	119155786		2203	4300	6503	SO:0001583	missense	55254				integral to membrane		g.chr3:119155786G>C	BC021277	BC021277	CCDS2987.1	CCDS2987.1	3q13.33	2005-01-10			2005-01-10			ENSG00000176142	ENSG00000176142	ENSG00000176142	ENSG00000176142				25600	25600	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_018266	NM_018266		Approved	FLJ10902	uc003eck.2	uc003eck.2	Q9NV64	Q9NV64	OTTHUMG00000159361	OTTHUMG00000159361	ENST00000319172.5:c.964C>G	3.37:g.119155786G>C	ENSP00000326063:p.Leu322Val			p.L322V	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	7	1384	-			322		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.964C>G	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765116	0.49574	.	.	ENSG00000176142	ENST00000319172	T	0.44482	0.92	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.61533	0.89	T	0.44050	-0.9353	10	0.39692	T	0.17	-10.2264	17.8168	0.88637	0.0:0.0:1.0:0.0	.	322	Q9NV64	TM39A_HUMAN	V	322	ENSP00000326063:L322V	ENSP00000326063:L322V	L	-	1	0	0	TMEM39A	120638476	120638476	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.171000	0.64996	2.692000	0.91855	0.650000	0.86243	CTC		0.468	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3		95.954622	38	38	178	178	NM_018266		33	96.799544	96.799544	51	0.392857	0	0	0	1	0	33	51	0.392857	C	119155786	G	C	119155786	3	2	78	1	0	0	0	0	1	0	0	0	16158	1000	35	5	514	5	TMEM39A	3	119155786	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08	81786800	119155786	78866644	4	1480											
PCDHGB1	56104	broad.mit.edu	37	5	140730154	140730154	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr5:140730154C>A	ENST00000523390.1	+	1	327	c.327C>A	c.(325-327)aaC>aaA	p.N109K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	109	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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCTGAAAACCCAATGAATG	0.423																																						ENST00000523390.1											0			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(325-327)aaC>aaA							65	64	64					5																	140730154		1867	4112	5979	SO:0001583	missense	0						g.chr5:140730154C>A	AF152517	AF152517	CCDS54923.1, CCDS75330.1	CCDS54923.1, CCDS75330.1	5q31	2010-01-26			2010-01-26				ENSG00000254221		ENSG00000254221		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8708	8708	other	protocadherin	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	"protocadherin gamma subfamily B, 1, isoform 2"	606299	606299						10380929	10380929	Standard	Standard	NM_018922	NM_018922		Approved	PCDH-GAMMA-B1			Q9Y5G3	Q9Y5G3			ENST00000523390.1:c.327C>A	5.37:g.140730154C>A	ENSP00000429273:p.Asn109Lys		PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.N109K	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	327	+					Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.327C>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.32	1.901247	0.33535	.	.	ENSG00000254221	ENST00000523390	T	0.28255	1.62	5.46	-4.25	0.03766	5.46	-4.25	0.03766	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.31702	0.0805	L	0.55743	1.74	0.24380	N	0.994793	B;B	0.25351	0.124;0.041	B;B	0.33121	0.149;0.158	T	0.44236	-0.9341	9	0.48119	T	0.1	.	14.9572	0.71124	0.0:0.279:0.0:0.721	.	109;109	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	K	109	ENSP00000429273:N109K	ENSP00000429273:N109K	N	+	3	2	2	PCDHGB1	140710338	140710338	0.011000	0.17503	0.883000	0.34634	0.771000	0.43674	-1.126000	0.03254	-0.720000	0.04935	-0.251000	0.11542	AAC		0.423	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1		3.002575	-11	-11	54	54	NM_018922		3	7.543567	7.543567	26	0.103448	1	0	0.115264	1	0.119106	3	26	0.103448	A	140730154	C	A	140730154	3	1	78	1	0	0	0	0	1	0	0	0	11562	506	18	5	329	5	PCDHGB1	5	140730154	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		140730154	40185106	5	1481											
SNAP91	9892	broad.mit.edu	37	6	84291979	84291979	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:84291979G>A	ENST00000439399.2	-	23	2427	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M	SNAP91_ENST00000437520.1_Missense_Mutation_p.T397M|SNAP91_ENST00000428679.2_Missense_Mutation_p.T704M|SNAP91_ENST00000520213.1_Missense_Mutation_p.T397M|SNAP91_ENST00000521743.1_Missense_Mutation_p.T704M|SNAP91_ENST00000195649.6_Missense_Mutation_p.T704M|SNAP91_ENST00000369694.2_Missense_Mutation_p.T704M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T674M|SNAP91_ENST00000521485.1_Missense_Mutation_p.T704M|SNAP91_ENST00000519133.1_5'Flank	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	704					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTGAAGGCGTTGTCCCAAA	0.468																																						ENST00000428679.2											0			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2110-2112)aCg>aTg	synaptosomal-associated protein, 91kDa						86	88	87					6																	84291979		1979	4179	6158	SO:0001583	missense	9892			clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84291979G>A	AB014556	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609	ENSG00000065609	ENSG00000065609				14986	14986	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607923	607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"		"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	9734811, 12493563, 10436022	Standard	Standard	NM_014841	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	uc003pka.3	O60641	O60641	OTTHUMG00000015114	OTTHUMG00000015114	ENST00000439399.2:c.2111C>T	6.37:g.84291979G>A	ENSP00000400459:p.Thr704Met		SNAP91_ENST00000369694.2_Missense_Mutation_p.T704M|SNAP91_ENST00000520213.1_Missense_Mutation_p.T397M|SNAP91_ENST00000439399.2_Missense_Mutation_p.T704M|SNAP91_ENST00000195649.6_Missense_Mutation_p.T704M|SNAP91_ENST00000521485.1_Missense_Mutation_p.T704M|SNAP91_ENST00000437520.1_Missense_Mutation_p.T397M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T674M|SNAP91_ENST00000521743.1_Missense_Mutation_p.T704M	p.T704M			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	23	2704	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	704		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.2111C>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022845	0.75275	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.348037	0.30159	N	0.010276	T	0.27629	0.0679	N	0.19112	0.55	0.24748	N	0.992998	P;D;D;D;D	0.89917	0.923;1.0;1.0;1.0;1.0	B;D;D;P;D	0.71870	0.198;0.975;0.964;0.904;0.964	T	0.15723	-1.0427	10	0.87932	D	0	-5.1581	14.1174	0.65164	0.0:0.0:0.8498:0.1502	.	585;397;674;704;702	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	M	704;704;704;704;704;397;674;704;397;45;517	ENSP00000429776:T704M;ENSP00000358708:T704M;ENSP00000400459:T704M;ENSP00000195649:T704M;ENSP00000412492:T704M;ENSP00000413277:T397M;ENSP00000428511:T674M;ENSP00000428215:T704M;ENSP00000428026:T397M;ENSP00000430255:T45M;ENSP00000430071:T517M	ENSP00000195649:T704M	T	-	2	0	0	SNAP91	84348698	84348698	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.315000	0.65810	2.564000	0.86499	0.561000	0.74099	ACG		0.468	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		50.465699	-24	-24	54	54			17	50.963349	50.963349	27	0.386364	0	0	0	1	0	17	27	0.386364	A	84291979	G	A	84291979	3	1	78	1	0	0	0	0	1	0	0	0	14833	1145	40	1	640	1	SNAP91	6	84291979	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		84291979	86823088	6	1482											
OPRM1	4988	broad.mit.edu	37	6	154411258	154411258	+	Silent	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:154411258C>T	ENST00000330432.7	+	2	825	c.588C>T	c.(586-588)ctC>ctT	p.L196L	OPRM1_ENST00000360422.4_Silent_p.L196L|OPRM1_ENST00000419506.2_Silent_p.L196L|OPRM1_ENST00000434900.2_Silent_p.L289L|OPRM1_ENST00000452687.2_Silent_p.L196L|OPRM1_ENST00000520708.1_Silent_p.L96L|OPRM1_ENST00000524163.1_Silent_p.L196L|OPRM1_ENST00000337049.4_Silent_p.L196L|OPRM1_ENST00000522555.1_Silent_p.L96L|OPRM1_ENST00000229768.5_Silent_p.L196L|OPRM1_ENST00000414028.2_Silent_p.L196L|OPRM1_ENST00000522236.1_Silent_p.L96L|OPRM1_ENST00000428397.2_Silent_p.L196L|OPRM1_ENST00000435918.2_Silent_p.L196L|OPRM1_ENST00000518759.1_Silent_p.L115L	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	196					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ACTGGATCCTCTCTTCAGCCA	0.473																																						ENST00000414028.2											0			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(586-588)ctC>ctT	opioid receptor, mu 1						138	130	132					6																	154411258		2025	4217	6242	SO:0001819	synonymous_variant	4988			behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154411258C>T	L29301	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			2012-08-08			ENSG00000112038	ENSG00000112038	ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	"GPCR / Class A : Opioid receptors"	8156	8156	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600018	600018								Standard	Standard	NM_001145285	NM_001145285		Approved	MOR1	uc003qpo.1	uc003qpo.1	P35372	P35372	OTTHUMG00000015870	OTTHUMG00000015870	ENST00000330432.7:c.588C>T	6.37:g.154411258C>T			OPRM1_ENST00000419506.2_Silent_p.L196L|OPRM1_ENST00000520708.1_Silent_p.L96L|OPRM1_ENST00000229768.5_Silent_p.L196L|OPRM1_ENST00000522555.1_Silent_p.L96L|OPRM1_ENST00000452687.2_Silent_p.L196L|OPRM1_ENST00000428397.2_Silent_p.L196L|OPRM1_ENST00000330432.7_Silent_p.L196L|OPRM1_ENST00000434900.2_Silent_p.L289L|OPRM1_ENST00000337049.4_Silent_p.L196L|OPRM1_ENST00000435918.2_Silent_p.L196L|OPRM1_ENST00000518759.1_Silent_p.L115L|OPRM1_ENST00000522236.1_Silent_p.L96L|OPRM1_ENST00000360422.4_Silent_p.L196L|OPRM1_ENST00000524163.1_Silent_p.L196L	p.L196L	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	2	638	+		Ovarian(120;0.196)	196		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.588C>T	CCDS55070.1																																																																																									0.473	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2		77.686362	14	14	105	105	NM_000914		25	77.980371	77.980371	34	0.423729	0	0	0	1	0	25	34	0.423729	T	154411258	C	T	154411258	2	4	78	1	0	0	0	0	0	0	0	1	10887	900	32	3		3	OPRM1	6	154411258	Silent	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08	70119279	154411258	16703809	7	1483											
C6orf70	55780	broad.mit.edu	37	6	170176103	170176103	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:170176103C>T	ENST00000366773.3	+	15	1495	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	ERMARD_ENST00000392095.4_Missense_Mutation_p.H362Y|ERMARD_ENST00000588451.1_Missense_Mutation_p.H352Y|ERMARD_ENST00000418781.3_Missense_Mutation_p.H488Y|ERMARD_ENST00000366772.2_Missense_Mutation_p.H488Y	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	488					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TGAGCTGTATCACCATATGCC	0.378																																						ENST00000588451.1											0										c.(1054-1056)Cac>Tac	ER membrane-associated RNA degradation						154	129	137					6																	170176103		2203	4300	6503	SO:0001583	missense	55780						g.chr6:170176103C>T	AK002014	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023	ENSG00000130023	ENSG00000130023				21056	21056	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615532	615532	"chromosome 6 open reading frame 70"	C6orf70	"chromosome 6 open reading frame 70"	C6orf70		23768067	23768067	Standard	Standard	NM_018341	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	uc003qxg.1	Q5T6L9	Q5T6L9	OTTHUMG00000016067	OTTHUMG00000016067	ENST00000366773.3:c.1462C>T	6.37:g.170176103C>T	ENSP00000355735:p.His488Tyr		ERMARD_ENST00000392095.4_Missense_Mutation_p.H362Y|ERMARD_ENST00000366773.3_Missense_Mutation_p.H488Y|ERMARD_ENST00000418781.3_Missense_Mutation_p.H488Y|ERMARD_ENST00000366772.2_Missense_Mutation_p.H488Y	p.H352Y							14	1567	+			488		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.1054C>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	3.195	-0.165006	0.06502	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.44482	0.93;0.92	5.27	2.37	0.29283	5.27	2.37	0.29283	.	1.069390	0.07104	N	0.841062	T	0.14830	0.0358	L	0.53249	1.67	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.0	T	0.33929	-0.9849	10	0.10636	T	0.68	.	7.6556	0.28373	0.0:0.6445:0.0:0.3555	.	488;488;488	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	Y	488;488;488;362;136	ENSP00000355735:H488Y;ENSP00000375945:H362Y	ENSP00000355733:H136Y	H	+	1	0	0	C6orf70	169918028	169918028	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.580000	0.05827	0.669000	0.31146	0.558000	0.71614	CAC		0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2		65.543138	-26	-26	77	77	NM_018341		22	65.654343	65.654343	27	0.44898	0	0	0	1	0	22	27	0.44898	T	170176103	C	T	170176103	3	4	78	1	0	0	0	0	1	0	0	0	2370	826	29	3	1520	3	C6orf70	6	170176103	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08	15764845	170176103	938964	8	1484											
CACNA2D1	781	broad.mit.edu	37	7	81978919	81978919	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr7:81978919C>T	ENST00000356253.5	-	2	397	c.142G>A	c.(142-144)Gca>Aca	p.A48T	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48T|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A48T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	48					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A48S(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCTGTTTTTGCCAGTGTGACA	0.358																																						ENST00000356860.3											2	Substitution - Missense(2)	lung(2)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(142-144)Gca>Aca	calcium channel, voltage-dependent, alpha 2/delta subunit 1						210	194	199					7																	81978919		2203	4300	6503	SO:0001583	missense	781				voltage-gated calcium channel complex	metal ion binding	g.chr7:81978919C>T	M76559	M76559	CCDS5598.1	CCDS5598.1	7q21-q22	2014-09-17			2014-09-17			ENSG00000153956	ENSG00000153956	ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	"Calcium channel subunits"	1399	1399	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114204	114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	8188232	Standard	Standard	XM_005250570	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	uc003uhr.1	P54289	P54289	OTTHUMG00000023622	OTTHUMG00000023622	ENST00000356253.5:c.142G>A	7.37:g.81978919C>T	ENSP00000348589:p.Ala48Thr		CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A48T|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48T	p.A48T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			2	480	-			48		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.142G>A		.	.	.	.	.	.	.	.	.	.	C	17.05	3.289623	0.59976	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.24908	3.15;3.15;1.83	6.01	6.01	0.97437	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000001	T	0.31765	0.0807	L	0.56769	1.78	0.80722	D	1	B	0.18741	0.03	B	0.17979	0.02	T	0.02751	-1.1115	10	0.51188	T	0.08	-18.9022	19.3532	0.94398	0.0:1.0:0.0:0.0	.	48	P54289-2	.	T	48	ENSP00000349320:A48T;ENSP00000348589:A48T;ENSP00000405395:A48T	ENSP00000284088:A48T	A	-	1	0	0	CACNA2D1	81816855	81816855	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.319000	0.65835	2.873000	0.98535	0.644000	0.83932	GCA		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			-21.711510	28	28	166	166			4	7.655678	7.655678	119	0.03252	0	0	0	1	0	4	119	0.03252	T	81978919	C	T	81978919	3	4	78	1	0	0	0	0	1	0	0	0	2548	739	26	2	3285	2	CACNA2D1	7	81978919	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		81978919	77159744	9	1485											
LMTK2	22853	broad.mit.edu	37	7	97821218	97821218	+	Missense_Mutation	SNP	G	G	A	rs144291659		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr7:97821218G>A	ENST00000297293.5	+	11	1734	c.1441G>A	c.(1441-1443)Gct>Act	p.A481T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	481					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGGGAGGCCGCTAAGCACGA	0.587																																						ENST00000297293.5											0			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1441-1443)Gct>Act	lemur tyrosine kinase 2	G	THR/ALA	0,4406		0,0,2203	50	48	49		1441	5.9	0.4	7	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LMTK2	NM_014916.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	481/1504	97821218	2,13004	2203	4300	6503	SO:0001583	missense	22853			early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821218G>A	AB029002	AB029002	CCDS5654.1	CCDS5654.1	7q22.1	2014-06-12			2014-06-12			ENSG00000164715	ENSG00000164715	ENSG00000164715	ENSG00000164715				17880	17880	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	"protein phosphatase 1, regulatory subunit 100"	610989	610989						15005709	15005709	Standard	Standard	NM_014916	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	uc003upd.2	Q8IWU2	Q8IWU2	OTTHUMG00000154256	OTTHUMG00000154256	ENST00000297293.5:c.1441G>A	7.37:g.97821218G>A	ENSP00000297293:p.Ala481Thr			p.A481T	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1734	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		481		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1441G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293719	0.95546	0.0	2.33E-4	ENSG00000164715	ENST00000297293	D	0.85484	-1.99	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92401	0.7588	M	0.80183	2.485	0.80722	D	1	D	0.63880	0.993	P	0.62885	0.908	D	0.92507	0.6013	10	0.87932	D	0	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	481	Q8IWU2	LMTK2_HUMAN	T	481	ENSP00000297293:A481T	ENSP00000297293:A481T	A	+	1	0	0	LMTK2	97659154	97659154	1.000000	0.71417	0.374000	0.26016	0.841000	0.47740	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GCT		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1		2.404561	-5	-5	45	45	NM_014916		3	7.452564	7.452564	28	0.096774	0	0	0	1	0	3	28	0.096774	A	97821218	G	A	97821218	3	1	78	1	0	0	0	0	1	0	0	0	8859	1087	38	1	1483	1	LMTK2	7	97821218	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08	15842299	97821218	61317445	10	1486											
PTPRD	5789	broad.mit.edu	37	9	8331704	8331704	+	Silent	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:8331704C>T	ENST00000381196.4	-	41	5955	c.5412G>A	c.(5410-5412)caG>caA	p.Q1804Q	PTPRD_ENST00000540109.1_Silent_p.Q1804Q|PTPRD_ENST00000356435.5_Silent_p.Q1804Q|PTPRD_ENST00000397611.3_Silent_p.Q1394Q|PTPRD_ENST00000537002.1_Silent_p.Q1394Q|PTPRD_ENST00000360074.4_Silent_p.Q1791Q|PTPRD_ENST00000358503.5_Silent_p.Q1782Q|PTPRD_ENST00000397606.3_Silent_p.Q1397Q|PTPRD_ENST00000355233.5_Silent_p.Q1398Q|PTPRD_ENST00000486161.1_Silent_p.Q1397Q|PTPRD_ENST00000397617.3_Silent_p.Q1397Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1804	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTCAGTGAACTGGAACTGCC	0.512										TSP Lung(15;0.13)																												ENST00000381196.4											0			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5410-5412)caG>caA	protein tyrosine phosphatase, receptor type, D						111	105	107					9																	8331704		2203	4300	6503	SO:0001819	synonymous_variant	5789			transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8331704C>T	X54133	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			2013-02-11			ENSG00000153707	ENSG00000153707	ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	9668	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601598	601598						7896816, 8355697	7896816, 8355697	Standard	Standard	NM_002839	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	uc003zkk.3	P23468	P23468	OTTHUMG00000021005	OTTHUMG00000021005	ENST00000381196.4:c.5412G>A	9.37:g.8331704C>T			PTPRD_ENST00000358503.5_Silent_p.Q1782Q|PTPRD_ENST00000355233.5_Silent_p.Q1398Q|PTPRD_ENST00000486161.1_Silent_p.Q1397Q|PTPRD_ENST00000360074.4_Silent_p.Q1791Q|PTPRD_ENST00000540109.1_Silent_p.Q1804Q|PTPRD_ENST00000356435.5_Silent_p.Q1804Q|PTPRD_ENST00000397606.3_Silent_p.Q1397Q|PTPRD_ENST00000397617.3_Silent_p.Q1397Q|PTPRD_ENST00000397611.3_Silent_p.Q1394Q|PTPRD_ENST00000537002.1_Silent_p.Q1394Q	p.Q1804Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	5955	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1804	Tyrosine-protein phosphatase 2.	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.5412G>A	CCDS43786.1																																																																																									0.512	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		-2.792682	20	20	181	181			8	18.138882	18.138882	103	0.072072	0	0	0	1	0	8	103	0.072072	T	8331704	C	T	8331704	2	4	78	1	0	0	0	0	0	0	0	1	12799	564	20	3		3	PTPRD	9	8331704	Silent	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		8331704	132881727	11	1487											
CDKN2A	1029	broad.mit.edu	37	9	21974744	21974744	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:21974744A>C	ENST00000304494.5	-	1	353	c.83T>G	c.(82-84)gTg>gGg	p.V28G	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.0(1)|p.V28_V51del(1)|p.V28fs*15(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCGCCCGCACCTCCTCTAC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5											1345	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(3)|Deletion - Frameshift(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(278)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(53)|pleura(52)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM024658	CDKN2A	M		c.(82-84)gTg>gGg	cyclin-dependent kinase inhibitor 2A						23	30	28					9																	21974744		1949	3939	5888	SO:0001583	missense	1029			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974744A>C	L27211	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	ENSG00000147889	ENSG00000147889				1787	1787	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600160	600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	8152487, 7606716	Standard	Standard	NM_058195	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	uc003zpk.3	P42771	P42771	OTTHUMG00000019686	OTTHUMG00000019686	ENST00000304494.5:c.83T>G	9.37:g.21974744A>C	ENSP00000307101:p.Val28Gly		CDKN2A_ENST00000498124.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V28G	p.V28G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	353	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	28		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.83T>G	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.776837	0.90195	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.73152	-0.72;-0.72	4.89	4.89	0.63831	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.88540	0.6464	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91605	0.5298	9	0.62326	D	0.03	.	13.8927	0.63750	1.0:0.0:0.0:0.0	.	28;28	P42771;G3XAG3	CD2A1_HUMAN;.	G	28	ENSP00000307101:V28G;ENSP00000394932:V28G	ENSP00000307101:V28G	V	-	2	0	0	CDKN2A	21964744	21964744	0.963000	0.33076	1.000000	0.80357	0.918000	0.54935	4.872000	0.63050	2.165000	0.68154	0.533000	0.62120	GTG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		3.736237	-8	-8	46	46	NM_000077		6	6.977329	6.977329	26	0.1875	0	0	0	1	0	6	26	0.1875	C	21974744	A	C	21974744	3	2	78	1	0	0	0	0	1	0	0	0	3161	159	6	5	600	5	CDKN2A	9	21974744	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08	13643040	21974744	119238687	12	1488											
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108	105	106					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		80.866073	-20	-20	92	92	NM_002072		25	81.229505	81.229505	35	0.416667	0	0	0	1	0	25	35	0.416667	G	80409488	T	G	80409488	3	3	78	1	0	0	0	0	1	0	0	0	6509	1812	63	5	465	5	GNAQ	9	80409488	Missense_Mutation	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08	58434744	80409488	60803943	13	1489											
GABBR2	9568	broad.mit.edu	37	9	101304173	101304173	+	Silent	SNP	G	G	A	rs142025089	byFrequency	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:101304173G>A	ENST00000259455.2	-	3	1071	c.612C>T	c.(610-612)gaC>gaT	p.D204D	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	204					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACCTCTGAACGTCTTGCGTCA	0.537													G|||	3	0.000599042	0.0023	0	5008	,	,		20246	0		0	False		,,,				2504	0					ENST00000259455.2											0			breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(610-612)gaC>gaT	gamma-aminobutyric acid (GABA) B receptor, 2	G		2,4404	4.2+/-10.8	0,2,2201	156	111	126		612	2.2	1	9	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	GABBR2	NM_005458.7		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		204/942	101304173	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9568			negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101304173G>A	AF069755	AF069755	CCDS6736.1	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	4507	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607340	607340	"G protein-coupled receptor 51"	GPR51	"G protein-coupled receptor 51"	GPR51		10087195	10087195	Standard	Standard	NM_005458	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	uc004ays.3	O75899	O75899	OTTHUMG00000020345	OTTHUMG00000020345	ENST00000259455.2:c.612C>T	9.37:g.101304173G>A			GABBR2_ENST00000477471.1_5'UTR	p.D204D	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			3	1071	-		Acute lymphoblastic leukemia(62;0.0527)	204		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.612C>T	CCDS6736.1																																																																																									0.537	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		34.019960	10	10	44	44			11	34.30105	34.30105	17	0.392857	0	0	0	1	0	11	17	0.392857	A	101304173	G	A	101304173	2	1	78	1	0	0	0	0	0	0	0	1	6156	1136	40	1		1	GABBR2	9	101304173	Silent	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08	20894685	101304173	39909258	14	1490											
BAT2L1	84726	broad.mit.edu	37	9	134350898	134350898	+	Missense_Mutation	SNP	C	C	T	rs559310957		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:134350898C>T	ENST00000357304.4	+	15	3437	c.3382C>T	c.(3382-3384)Cgg>Tgg	p.R1128W	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1128							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAAGCCCCGACGGAGAGTTGC	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		14338	0		0	False		,,,				2504	0					ENST00000357304.4											0			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3382-3384)Cgg>Tgg	proline-rich coiled-coil 2B						12	14	13					9																	134350898		1905	4081	5986	SO:0001583	missense	84726					protein binding	g.chr9:134350898C>T	AB011087	AB011087	CCDS48044.1	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723	ENSG00000130723	ENSG00000130723				28121	28121	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1	"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	9628581	Standard	Standard	NM_013318	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	uc004can.4	Q5JSZ5	Q5JSZ5	OTTHUMG00000020827	OTTHUMG00000020827	ENST00000357304.4:c.3382C>T	9.37:g.134350898C>T	ENSP00000349856:p.Arg1128Trp		PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	p.R1128W	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	3437	+			1128		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.3382C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711147	0.48517	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.28895	1.59	5.82	5.82	0.92795	5.82	5.82	0.92795	.	.	.	.	.	T	0.50956	0.1646	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.39643	-0.9604	8	.	.	.	.	13.9723	0.64250	0.1514:0.8486:0.0:0.0	.	424;1128	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	W	1128;424	ENSP00000349856:R1128W	.	R	+	1	2	2	PRRC2B	133340719	133340719	0.994000	0.37717	0.997000	0.53966	0.276000	0.26787	0.882000	0.28186	2.756000	0.94617	0.561000	0.74099	CGG		0.672	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			9.592395	1	1	23	23			4	10.501447	10.501447	12	0.25	0	0	0	1	0	4	12	0.25	T	134350898	C	T	134350898	3	4	78	1	0	0	0	0	1	0	0	0	1320	527	19	1	3440	1	BAT2L1	9	134350898	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08	33046725	134350898	6862533	15	1491											
PTPMT1	114971	broad.mit.edu	37	11	47591272	47591272	+	Silent	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr11:47591272C>T	ENST00000326674.9	+	3	298	c.276C>T	c.(274-276)gtC>gtT	p.V92V	PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000534775.1_Nonsense_Mutation_p.R129*|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000326656.8_Intron|PTPMT1_ENST00000426530.2_Intron	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	92					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						GACTAGGAGTCGAGCAGCTGC	0.522																																						ENST00000534775.1											0			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(385-387)Cga>Tga	protein tyrosine phosphatase, mitochondrial 1						64	66	65					11																	47591272		1966	4167	6133	SO:0001819	synonymous_variant	114971			inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:47591272C>T	BC014048	BC014048	CCDS41643.1, CCDS44593.1	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			2011-06-09			ENSG00000110536	ENSG00000110536	ENSG00000110536	ENSG00000110536	3.1.3.36	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	26965	26965	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609538	609538						12477932	12477932	Standard	Standard	NM_175732	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	uc001nfs.4	Q8WUK0	Q8WUK0	OTTHUMG00000166892	OTTHUMG00000166892	ENST00000326674.9:c.276C>T	11.37:g.47591272C>T			PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326656.8_Intron|PTPMT1_ENST00000426530.2_Intron|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000326674.9_Silent_p.V92V	p.R129*			Q8WUK0	PTPM1_HUMAN			2	550	+			0	Tyrosine-protein phosphatase.	E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Nonsense_Mutation	SNP	ENST00000326674.9	37	c.385C>T	CCDS41643.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.111195	0.56398	.	.	ENSG00000110536	ENST00000534775	.	.	.	5.2	-10.4	0.00318	5.2	-10.4	0.00318	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8019	5.9036	0.18980	0.1222:0.3998:0.3765:0.1016	.	.	.	.	X	129	.	ENSP00000436160:R129X	R	+	1	2	2	PTPMT1	47547848	47547848	0.007000	0.16637	0.438000	0.26821	0.935000	0.57460	-1.465000	0.02357	-2.418000	0.00566	-0.379000	0.06801	CGA		0.522	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1		28.944805	-21	-21	29	29	XM_374879		10	29.163465	29.163465	15	0.4	0	0	0	1	0	10	15	0.4	T	47591272	C	T	47591272	2	4	78	1	0	0	0	0	0	0	0	1	12778	871	31	1		1	PTPMT1	11	47591272	Silent	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		47591272	87415244	16	1492											
CD4	920	broad.mit.edu	37	12	6923368	6923368	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr12:6923368T>C	ENST00000011653.4	+	4	533	c.275T>C	c.(274-276)tTt>tCt	p.F92S	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.F37S	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	92	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CAAGGAAACTTTCCCCTGATC	0.498																																						ENST00000011653.4											0			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(274-276)tTt>tCt	CD4 molecule						141	137	138					12																	6923368		2203	4300	6503	SO:0001583	missense	920			cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923368T>C	M35160	M35160	CCDS8562.1	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610	ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	1678	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			186940	186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"		"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"					Standard	Standard	NM_000616	NM_000616		Approved		uc001qqv.2	uc001qqv.2	P01730	P01730	OTTHUMG00000168514	OTTHUMG00000168514	ENST00000011653.4:c.275T>C	12.37:g.6923368T>C	ENSP00000011653:p.Phe92Ser		CD4_ENST00000541982.1_Missense_Mutation_p.F37S|CD4_ENST00000538827.1_3'UTR	p.F92S	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			4	533	+		Myeloproliferative disorder(1001;0.0122)	92	Ig-like V-type.	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.275T>C	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510235	0.44660	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.68765	-0.35;-0.35	5.32	5.32	0.75619	5.32	5.32	0.75619	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.861493	0.10180	N	0.705942	T	0.79975	0.4539	M	0.64260	1.97	0.37698	D	0.924097	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77838	-0.2439	10	0.66056	D	0.02	1.5086	11.6738	0.51417	0.0:0.0:0.0:1.0	.	37;92	F5H480;P01730	.;CD4_HUMAN	S	92;37	ENSP00000011653:F92S;ENSP00000445167:F37S	ENSP00000011653:F92S	F	+	2	0	0	CD4	6793629	6793629	0.684000	0.27642	0.077000	0.20336	0.005000	0.04900	1.456000	0.35201	2.012000	0.59069	0.379000	0.24179	TTT		0.498	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1		124.976002	-15	-15	117	117	NM_000616		37	124.976002	124.976002	37	0.5	0	0	0	1	0	37	37	0.5	C	6923368	T	C	6923368	3	2	78	1	0	0	0	0	1	0	0	0	3014	1841	64	4	285	4	CD4	12	6923368	Missense_Mutation	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08		6923368	126928527	17	1493											
KRT79	338785	broad.mit.edu	37	12	53216887	53216887	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr12:53216887C>T	ENST00000330553.5	-	7	1314	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	427	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGTAGTCACGCAGCAGCCG	0.617																																						ENST00000330553.5											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1279-1281)cGt>cAt	keratin 79						95	87	89					12																	53216887		2203	4300	6503	SO:0001583	missense	338785				keratin filament	structural molecule activity	g.chr12:53216887C>T	AJ564105	AJ564105	CCDS8839.1	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640	ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	"-", "Intermediate filaments type II, keratins (basic)"	28930	28930	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"keratin 6-like"	"keratin 6-like"	611160	611160						11683385	11683385	Standard	Standard	NM_175834	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	uc001sbb.3	Q5XKE5	Q5XKE5	OTTHUMG00000169878	OTTHUMG00000169878	ENST00000330553.5:c.1280G>A	12.37:g.53216887C>T	ENSP00000328358:p.Arg427His			p.R427H	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			7	1314	-			427	Coil 2.|Rod.	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1280G>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182379	0.38511	.	.	ENSG00000185640	ENST00000330553;ENST00000549255	D;D	0.89810	-2.57;-2.57	3.92	2.1	0.27182	3.92	2.1	0.27182	Filament (1);	0.000000	0.44902	D	0.000418	D	0.85737	0.5766	M	0.75150	2.29	0.34666	D	0.723239	P	0.38148	0.62	B	0.37387	0.248	D	0.85802	0.1374	10	0.72032	D	0.01	.	5.2249	0.15389	0.1628:0.6584:0.0:0.1788	.	427	Q5XKE5	K2C79_HUMAN	H	427;13	ENSP00000328358:R427H;ENSP00000449159:R13H	ENSP00000328358:R427H	R	-	2	0	0	KRT79	51503154	51503154	0.002000	0.14202	0.072000	0.20136	0.078000	0.17371	1.184000	0.32053	0.623000	0.30267	-0.263000	0.10527	CGT		0.617	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1		40.772292	4	4	103	103	NM_175834		13	40.888158	40.888158	17	0.433333	0	0	0	1	0	13	17	0.433333	T	53216887	C	T	53216887	3	4	78	1	0	0	0	0	1	0	0	0	8492	536	19	1	339	1	KRT79	12	53216887	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08	46293519	53216887	80635008	18	1494											
C13orf23	80209	broad.mit.edu	37	13	39587518	39587518	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr13:39587518T>C	ENST00000352251.3	-	11	2704	c.1871A>G	c.(1870-1872)cAt>cGt	p.H624R	PROSER1_ENST00000350125.3_Missense_Mutation_p.H602R|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	624	Ser-rich.																ATTCCCAGAATGAGATGGACC	0.473																																						ENST00000352251.3											0										c.(1870-1872)cAt>cGt	proline and serine rich 1						150	156	154					13																	39587518		2203	4300	6503	SO:0001583	missense	80209						g.chr13:39587518T>C	AK022723	AK022723	CCDS9368.2	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685	ENSG00000120685	ENSG00000120685				20291	20291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 13 open reading frame 23"	C13orf23	"chromosome 13 open reading frame 23"	C13orf23				Standard	Standard	NM_025138	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	uc001uwy.4	Q86XN7	Q86XN7	OTTHUMG00000016764	OTTHUMG00000016764	ENST00000352251.3:c.1871A>G	13.37:g.39587518T>C	ENSP00000332034:p.His624Arg		PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.H602R	p.H624R	NM_025138.4	NP_079414.3	Q86XN7	CM023_HUMAN			11	2704	-			624	Ser-rich.	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.1871A>G	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716919	0.30413	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.44482	0.92;0.92	4.73	2.16	0.27623	4.73	2.16	0.27623	.	.	.	.	.	T	0.39572	0.1083	N	0.19112	0.55	0.40546	D	0.98107	D;B	0.67145	0.996;0.42	D;B	0.77557	0.99;0.087	T	0.35992	-0.9766	8	.	.	.	-4.0017	2.5606	0.04771	0.1513:0.0812:0.1584:0.6091	.	602;624	A6NJ97;Q86XN7	.;PRSR1_HUMAN	R	624;602	ENSP00000332034:H624R;ENSP00000339123:H602R	.	H	-	2	0	0	PROSER1	38485518	38485518	0.988000	0.35896	0.080000	0.20451	0.517000	0.34286	2.001000	0.40825	0.231000	0.21079	0.459000	0.35465	CAT		0.473	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5		136.186620	17	17	127	127	NM_025138		44	136.500214	136.500214	56	0.44	0	0	0	1	0	44	56	0.44	C	39587518	T	C	39587518	3	2	78	1	0	0	0	0	1	0	0	0	1721	1464	51	4	975	4	C13orf23	13	39587518	Missense_Mutation	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08		39587518	75582360	19	1495											
PCK2	5106	broad.mit.edu	37	14	24569263	24569263	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr14:24569263G>A	ENST00000216780.4	+	7	1343	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	PCK2_ENST00000396973.4_Missense_Mutation_p.A359T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.A225T|PCK2_ENST00000545054.2_Missense_Mutation_p.A225T|PCK2_ENST00000559250.1_Missense_Mutation_p.A371T|PCK2_ENST00000561286.1_Missense_Mutation_p.A225T	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	359					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGGTACCTCTGCCACCACCAA	0.522																																						ENST00000545054.2											0			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(673-675)Gcc>Acc	phosphoenolpyruvate carboxykinase 2 (mitochondrial)						115	117	116					14																	24569263		2203	4300	6503	SO:0001583	missense	5106			gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24569263G>A	AK129934	AK129934	CCDS9609.1, CCDS41928.1	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			2006-06-09			ENSG00000100889	ENSG00000100889	ENSG00000100889	ENSG00000100889	4.1.1.32			8725	8725	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614095	614095						8645161, 9657976	8645161, 9657976	Standard	Standard	XM_005267726	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	uc001wlt.3	Q16822	Q16822	OTTHUMG00000028791	OTTHUMG00000028791	ENST00000216780.4:c.1075G>A	14.37:g.24569263G>A	ENSP00000216780:p.Ala359Thr		PCK2_ENST00000396973.4_Missense_Mutation_p.A359T|PCK2_ENST00000216780.4_Missense_Mutation_p.A359T|PCK2_ENST00000561286.1_Missense_Mutation_p.A225T|PCK2_ENST00000558096.1_Missense_Mutation_p.A225T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.A371T	p.A225T			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	7	1591	+			359		O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.673G>A	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467635	0.43839	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.04317	3.65;3.65;3.65	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.289751	0.42053	D	0.000771	T	0.04815	0.0130	N	0.21142	0.635	0.38824	D	0.955709	B;B;B;B	0.15473	0.001;0.007;0.013;0.007	B;B;B;B	0.17979	0.014;0.017;0.02;0.017	T	0.49466	-0.8937	10	0.20046	T	0.44	-16.065	16.8589	0.86013	0.0:0.0:1.0:0.0	.	225;359;359;359	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	T	359;359;225	ENSP00000216780:A359T;ENSP00000380171:A359T;ENSP00000441826:A225T	ENSP00000216780:A359T	A	+	1	0	0	PCK2	23639103	23639103	0.751000	0.28327	1.000000	0.80357	0.967000	0.64934	2.457000	0.45005	2.579000	0.87056	0.655000	0.94253	GCC		0.522	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3		93.692302	-52	-52	110	110	NM_001018073		32	93.695751	93.695751	33	0.492308	0	0	0	1	0	32	33	0.492308	A	24569263	G	A	24569263	3	1	78	1	0	0	0	0	1	0	0	0	11582	1319	46	2	1101	2	PCK2	14	24569263	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		24569263	82780277	20	1496											
FES	2242	broad.mit.edu	37	15	91433097	91433097	+	Silent	SNP	T	T	G			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr15:91433097T>G	ENST00000328850.3	+	8	1096	c.954T>G	c.(952-954)gcT>gcG	p.A318A	FES_ENST00000448367.1_3'UTR|FES_ENST00000394302.1_Silent_p.A260A|FES_ENST00000444422.2_Silent_p.A318A|FES_ENST00000414248.2_Silent_p.A260A|FES_ENST00000394300.3_Silent_p.A260A|FES_ENST00000450438.2_Silent_p.A260A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	318					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGAGCTGGCTGTGGCCACCG	0.617																																						ENST00000328850.3											0			lung(2)|ovary(1)	3						c.(952-954)gcT>gcG	feline sarcoma oncogene						108	113	111					15																	91433097		2198	4298	6496	SO:0001819	synonymous_variant	2242			axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91433097T>G	X52192	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	"SH2 domain containing"	3657	3657	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"		"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	1870997	Standard	Standard	NM_002005	NM_002005		Approved	FPS	uc002bpv.3	uc002bpv.3	P07332	P07332	OTTHUMG00000044456	OTTHUMG00000044456	ENST00000328850.3:c.954T>G	15.37:g.91433097T>G			FES_ENST00000414248.2_Silent_p.A260A|FES_ENST00000448367.1_3'UTR|FES_ENST00000394302.1_Silent_p.A260A|FES_ENST00000394300.3_Silent_p.A260A|FES_ENST00000450438.2_Silent_p.A260A|FES_ENST00000444422.2_Silent_p.A318A	p.A318A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		8	1096	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		318		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	c.954T>G	CCDS10365.1																																																																																									0.617	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1		-1.456921	15	15	140	140	NM_002005		8	10.883606	10.883606	70	0.102564	0	0	0	1	0	8	70	0.102564	G	91433097	T	G	91433097	2	3	78	1	0	0	0	0	0	0	0	1	5820	1567	55	5		5	FES	15	91433097	Silent	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08		91433097	11098295	21	1497											
TBX6	6911	broad.mit.edu	37	16	30099934	30099934	+	Missense_Mutation	SNP	G	G	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr16:30099934G>C	ENST00000395224.2	-	6	830	c.771C>G	c.(769-771)atC>atG	p.I257M	TBX6_ENST00000553607.1_Missense_Mutation_p.I257M|TBX6_ENST00000279386.2_Missense_Mutation_p.I257M	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	257					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TCAGTTGTGTGATCTGGGGAC	0.542																																						ENST00000553607.1											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(769-771)atC>atG	T-box 6						144	139	141					16																	30099934		2197	4300	6497	SO:0001583	missense	6911			anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30099934G>C	AJ007989	AJ007989	CCDS10670.1	CCDS10670.1	16p11.2	2008-02-05			2008-02-05			ENSG00000149922	ENSG00000149922	ENSG00000149922	ENSG00000149922		"T-boxes"	"T-boxes"	11605	11605	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602427	602427						9888994, 9933572	9888994, 9933572	Standard	Standard	NM_004608	NM_004608		Approved		uc010veh.2	uc010veh.2	O95947	O95947	OTTHUMG00000132115	OTTHUMG00000132115	ENST00000395224.2:c.771C>G	16.37:g.30099934G>C	ENSP00000378650:p.Ile257Met		TBX6_ENST00000395224.2_Missense_Mutation_p.I257M|TBX6_ENST00000279386.2_Missense_Mutation_p.I257M	p.I257M			O95947	TBX6_HUMAN			5	1464	-			257		Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	c.771C>G	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635402	0.87760	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.91068	-2.78;-2.78;-2.78	5.95	5.95	0.96441	5.95	5.95	0.96441	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.95770	0.8808	10	0.87932	D	0	.	19.1503	0.93485	0.0:0.0:1.0:0.0	.	257;257	O95947;Q9HA44	TBX6_HUMAN;.	M	257	ENSP00000378650:I257M;ENSP00000279386:I257M;ENSP00000461223:I257M	ENSP00000279386:I257M	I	-	3	3	3	TBX6	30007435	30007435	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.596000	0.67570	2.826000	0.97356	0.563000	0.77884	ATC		0.542	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2		134.339667	20	20	146	146	NM_004608, NM_080758		42	134.42682	134.42682	48	0.466667	0	0	0	1	0	42	48	0.466667	C	30099934	G	C	30099934	3	2	78	1	0	0	0	0	1	0	0	0	15659	1280	45	5	555	5	TBX6	16	30099934	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		30099934	60254819	22	1498											
MPP3	4356	broad.mit.edu	37	17	41879154	41879154	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr17:41879154A>C	ENST00000398389.4	-	20	1838	c.1673T>G	c.(1672-1674)cTc>cGc	p.L558R	MPP3_ENST00000398393.1_Missense_Mutation_p.L583R	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	558	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)		GGCACCCTGGAGATCCTCCTT	0.552																																						ENST00000398393.1											0			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1747-1749)cTc>cGc	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)						111	105	107					17																	41879154		1939	4151	6090	SO:0001583	missense	4356			signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41879154A>C			CCDS42344.1	CCDS42344.1	17q12-q21	2008-07-18			2008-07-18			ENSG00000161647	ENSG00000161647	ENSG00000161647	ENSG00000161647				7221	7221	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	"MAGUK p55 subfamily member 3", "discs, large (Drosophila) homolog 3", "membrane protein palmitoylated 3"	601114	601114		DLG3		DLG3		8824795	8824795	Standard	Standard	NR_003562	NR_003562		Approved		uc002iei.4	uc002iei.4	Q13368	Q13368	OTTHUMG00000133838	OTTHUMG00000133838	ENST00000398389.4:c.1673T>G	17.37:g.41879154A>C	ENSP00000381425:p.Leu558Arg		MPP3_ENST00000398389.4_Missense_Mutation_p.L558R	p.L583R			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	18	2008	-		Breast(137;0.00394)	558		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1748T>G	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.712694	0.68730	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.55930	0.49;0.49	5.42	5.42	0.78866	5.42	5.42	0.78866	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.267510	0.37623	N	0.002001	T	0.74794	0.3763	M	0.90870	3.155	0.47994	D	0.999567	D;D	0.53151	0.958;0.958	P;P	0.60345	0.873;0.873	T	0.80928	-0.1163	10	0.87932	D	0	.	13.0831	0.59125	1.0:0.0:0.0:0.0	.	558;583	Q13368;D3DX46	MPP3_HUMAN;.	R	583;558	ENSP00000381430:L583R;ENSP00000381425:L558R	ENSP00000381425:L558R	L	-	2	0	0	MPP3	39234680	39234680	1.000000	0.71417	0.981000	0.43875	0.917000	0.54804	5.137000	0.64789	2.280000	0.76307	0.460000	0.39030	CTC		0.552	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1		99.929284	-17	-17	102	102	NM_001932		34	100.522527	100.522527	49	0.409639	0	0	0	1	0	34	49	0.409639	C	41879154	A	C	41879154	3	2	78	1	0	0	0	0	1	0	0	0	9735	304	11	5	88	5	MPP3	17	41879154	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08		41879154	39316056	23	1499											
PLEKHG2	64857	broad.mit.edu	37	19	39905669	39905669	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr19:39905669delT	ENST00000409794.3	+	3	997	c.147delT	c.(145-147)tctfs	p.S49fs	PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409797.2_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000425673.1_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000378550.1_Frame_Shift_Del_p.S49fs	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	49					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCGAGGTTCTGGGAGCTCCA	0.662																																						ENST00000425673.1											0			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(145-147)tctfs	pleckstrin homology domain containing, family G (with RhoGef domain) member 2						9	9	9					19																	39905669		2187	4277	6464	SO:0001589	frameshift_variant	64857			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39905669delT	AK024429	AK024429	CCDS33022.2	CCDS33022.2	19q13.2	2013-01-11			2013-01-11			ENSG00000090924	ENSG00000090924	ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	29515	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611893	611893						11839748, 18045877	11839748, 18045877	Standard	Standard	NM_022835	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	uc010xuz.2	Q9H7P9	Q9H7P9	OTTHUMG00000152570	OTTHUMG00000152570	ENST00000409794.3:c.147delT	19.37:g.39905669delT	ENSP00000386733:p.Ser49fs		PLEKHG2_ENST00000409797.2_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000378550.1_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000409794.3_Frame_Shift_Del_p.S49fs	p.S49fs			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		3	472	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		49		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Frame_Shift_Del	DEL	ENST00000409794.3	37	c.147delT	CCDS33022.2																																																																																									0.662	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	.	.	-13	-13	6	6	NM_022835		2			4	0.33						2	4	0.33	-	39905669	T	-	39905669	7	5	78	1	0	1	0	1	0	0	0	0	12069	1567	55	0	153	0	PLEKHG2	19	39905669	Frame_Shift_Del	DEL	T	TCGA-YZ-A983-01A-11D-A39W-08		39905669	19223314	24	1500											
PRDM2	7799	hgsc.bcm.edu	37	1	14106463	14106463	+	Missense_Mutation	SNP	A	A	G	rs139578720	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr1:14106463A>G	ENST00000235372.7	+	8	3029	c.2173A>G	c.(2173-2175)Atg>Gtg	p.M725V	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.M524V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.M524V|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.M725V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	725					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCTGCATCAATGTTGCCTGT	0.473													A|||	3	0.000599042	8e-04	0	5008	,	,		20391	0.002		0	False		,,,				2504	0																0												A	VAL/MET,,VAL/MET,VAL/MET	3,4403	6.2+/-15.9	0,3,2200	101	99	100		1570,,2173,2173	2	0.6	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,missense,missense	PRDM2	NM_001007257.2,NM_001135610.1,NM_012231.4,NM_015866.4	21,,21,21	0,4,6499	GG,GA,AA		0.0116,0.0681,0.0308	benign,,benign,benign	524/1482,,725/1719,725/1683	14106463	4,13002	2203	4300	6503	SO:0001583	missense	7799							U17838	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			2011-07-01			ENSG00000116731	ENSG00000116731	ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	"Chromatin-modifying enzymes / K-methyltransferases"	9347	9347	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196	601196						7538672	7538672	Standard	Standard	NM_012231	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	uc001avi.3	Q13029	Q13029	OTTHUMG00000007917	OTTHUMG00000007917	ENST00000235372.7:c.2173A>G	1.37:g.14106463A>G	ENSP00000235372:p.Met725Val																	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37		CCDS150.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	A	0.065	-1.215976	0.01542	6.81E-4	1.16E-4	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01388	5.07;4.95;4.96;4.96	5.61	1.97	0.26223	5.61	1.97	0.26223	.	0.405138	0.30911	N	0.008629	T	0.00724	0.0024	N	0.14661	0.345	0.20638	N	0.999876	B;B;B;B	0.20368	0.015;0.0;0.044;0.026	B;B;B;B	0.17979	0.009;0.0;0.009;0.02	T	0.47824	-0.9087	10	0.02654	T	1	.	1.7173	0.02904	0.5704:0.1423:0.1506:0.1368	.	725;583;725;725	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	V	725;725;725;524;524	ENSP00000235372:M725V;ENSP00000312352:M725V;ENSP00000411103:M524V;ENSP00000341621:M524V	ENSP00000235372:M725V	M	+	1	0	0	PRDM2	13979050	13979050	0.019000	0.18553	0.572000	0.28498	0.961000	0.63080	0.313000	0.19415	0.465000	0.27167	0.533000	0.62120	ATG		0.473	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2			-7	-7	107	107	NM_012231		55			43							55	43		G	14106463	A	G	14106463	3	3	79	1	0	0	0	0	1	0	0	0	12458	101	4	4	2199	4	PRDM2	1	14106463	Missense_Mutation	SNP	A	TCGA-YZ-A984-01A-11D-A39W-08		14106463	235144158	1	1501											
CHML	1122	broad.mit.edu	37	1	241797963	241797963	+	Missense_Mutation	SNP	C	C	T	rs200203736		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr1:241797963C>T	ENST00000366553.1	-	1	1269	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	369					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTTGCCAAACCGTCCGAGACA	0.418																																						ENST00000366553.1											0			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1105-1107)cGg>cAg	choroideremia-like (Rab escort protein 2)	C	GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	95	96	96		1106,	3.1	0.8	1		96	0,8598		0,0,4299	yes	missense,intron	CHML,OPN3	NM_001821.3,NM_014322.2	43,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	369/657,	241797963	1,13003	2203	4299	6502	SO:0001583	missense	1122			intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797963C>T	X64728	X64728	CCDS31073.1	CCDS31073.1	1q43	2013-09-19			2013-09-19			ENSG00000203668	ENSG00000203668	ENSG00000203668	ENSG00000203668				1941	1941	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			118825	118825						7981670	7981670	Standard	Standard	NM_001821	NM_001821		Approved	REP-2	uc001hzd.3	uc001hzd.3	P26374	P26374	OTTHUMG00000039690	OTTHUMG00000039690	ENST00000366553.1:c.1106G>A	1.37:g.241797963C>T	ENSP00000355511:p.Arg369Gln		OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	p.R369Q	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1269	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	369		B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1106G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362737	0.61403	2.27E-4	0.0	ENSG00000203668	ENST00000366553	D	0.88124	-2.34	4.96	3.1	0.35709	4.96	3.1	0.35709	.	0.187243	0.47852	U	0.000213	D	0.87309	0.6145	.	.	.	0.48452	D	0.999651	D	0.60160	0.987	P	0.49683	0.619	D	0.87755	0.2594	9	0.87932	D	0	-2.4762	9.5703	0.39425	0.0:0.8242:0.0:0.1758	.	369	P26374	RAE2_HUMAN	Q	369	ENSP00000355511:R369Q	ENSP00000355511:R369Q	R	-	2	0	0	CHML	239864586	239864586	1.000000	0.71417	0.847000	0.33407	0.840000	0.47671	3.008000	0.49544	1.469000	0.48083	0.655000	0.94253	CGG		0.418	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1		41.407861	13	13	65	65	NM_001821		15	43.645932	43.645932	38	0.283019	0	0	0	1	0	15	38	0.283019	T	241797963	C	T	241797963	3	4	79	1	0	0	0	0	1	0	0	0	3351	652	23	1	868	1	CHML	1	241797963	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08	227691500	241797963	7452658	2	1502											
TOP2B	7155	broad.mit.edu	37	3	25665189	25665189	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:25665189C>A	ENST00000264331.4	-	21	2543	c.2544G>T	c.(2542-2544)aaG>aaT	p.K848N	TOP2B_ENST00000435706.2_Missense_Mutation_p.K843N	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	848					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CATAAAGGAACTTAAGGAGGT	0.388																																						ENST00000435706.2											0			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(2527-2529)aaG>aaT	topoisomerase (DNA) II beta 180kDa						69	62	64					3																	25665189		1853	4091	5944	SO:0001583	missense	7155			DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25665189C>A	X68060	X68060	CCDS46776.1	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	ENSG00000077097	ENSG00000077097	5.99.1.3			11990	11990	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			126431	126431	"topoisomerase (DNA) II beta (180kD)"		"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	1309226, 1333583	Standard	Standard	NM_001068	NM_001068		Approved		uc003cdj.3	uc003cdj.3	Q02880	Q02880	OTTHUMG00000155596	OTTHUMG00000155596	ENST00000264331.4:c.2544G>T	3.37:g.25665189C>A	ENSP00000264331:p.Lys848Asn		TOP2B_ENST00000264331.4_Missense_Mutation_p.K848N	p.K843N			Q02880	TOP2B_HUMAN			21	2730	-			848		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.2529G>T		.	.	.	.	.	.	.	.	.	.	C	12.04	1.817903	0.32145	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.44881	0.91;0.91	5.43	1.41	0.22369	5.43	1.41	0.22369	.	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.16016	0.355	0.80722	D	1	B	0.14438	0.01	B	0.21360	0.034	T	0.05402	-1.0887	10	0.21014	T	0.42	-11.3882	10.7836	0.46393	0.0:0.6438:0.0:0.3562	.	843	Q02880-2	.	N	843;848;843	ENSP00000396704:K843N;ENSP00000264331:K848N	ENSP00000264331:K848N	K	-	3	2	2	TOP2B	25640193	25640193	0.999000	0.42202	0.998000	0.56505	0.965000	0.64279	0.698000	0.25571	0.028000	0.15324	0.557000	0.71058	AAG		0.388	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			2.202463	-8	-8	22	22			3	6.744387	6.744387	26	0.103448	1	0	6.4e-05	1	7.2e-05	3	26	0.103448	A	25665189	C	A	25665189	3	1	79	1	0	0	0	0	1	0	0	0	16363	564	20	5	2400	5	TOP2B	3	25665189	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		25665189	172357241	3	1503											
BAP1	8314	broad.mit.edu	37	3	52437898	52437899	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:52437898_52437899delCT	ENST00000460680.1	-	13	1733_1734	c.1262_1263delAG	c.(1261-1263)aagfs	p.K421fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCCCTGTTCCCTTCCCCTTATA	0.554			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1261-1263)aagfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001589	frameshift_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52437898_52437899delCT	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1262_1263delAG	3:g.52437898_52437899delCT	ENSP00000417132:p.Lys421fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	p.K421fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1733_1734	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1		c.1262_1263delAG	CCDS2853.1																																																																																									0.554	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	1.985000e+01	1.015700e+02	9	9	80	80			37			10	0.816						37	10	0.816	-	52437899	CT	-	52437898	7	5	79	1	0	1	0	1	0	0	0	0	1311	680	24	0	946	0	BAP1	3	52437898	Frame_Shift_Del	DEL	CT	TCGA-YZ-A984-01A-11D-A39W-08	26772709	52437898	145584532	4	1504	19	2									
BAP1	8314	broad.mit.edu	37	3	52437899	52437899	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:52437899delT	ENST00000460680.1	-	13	1733	c.1262delA	c.(1261-1263)aagfs	p.K421fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCTGTTCCCTTCCCCTTATA	0.557			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1261-1263)aagfs	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						77	81	80					3																	52437899		2203	4300	6503	SO:0001589	frameshift_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437899delT	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1262delA	3.37:g.52437899delT	ENSP00000417132:p.Lys421fs		BAP1_ENST00000296288.5_Frame_Shift_Del_p.K403fs	p.K421fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1733	-			421		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Del	DEL	ENST00000460680.1	37	c.1262delA	CCDS2853.1																																																																																									0.557	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	9	9	81	81			38			11	0.78						38	11	0.78	-	52437899	T	-	52437899	7	5	79	1	0	1	0	1	0	0	0	0	1311	1609	56	0	947	0	BAP1	3	52437899	Frame_Shift_Del	DEL	T	TCGA-YZ-A984-01A-11D-A39W-08	1	52437899	145584531	5	1505	19	2									
TMEM44	93109	broad.mit.edu	37	3	194346636	194346636	+	Silent	SNP	C	C	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr3:194346636C>T	ENST00000392432.2	-	3	553	c.348G>A	c.(346-348)aaG>aaA	p.K116K	TMEM44_ENST00000473092.1_Silent_p.K116K|TMEM44_ENST00000381975.3_Silent_p.K116K|TMEM44_ENST00000347147.4_Silent_p.K116K|TMEM44_ENST00000273580.7_Silent_p.K116K|TMEM44_ENST00000330115.3_Silent_p.K13K	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	116						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGAATTAGACTTGAATTTGG	0.468																																						ENST00000392432.2											0			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8						c.(346-348)aaG>aaA	transmembrane protein 44						208	192	197					3																	194346636		2203	4300	6503	SO:0001819	synonymous_variant	93109				integral to membrane		g.chr3:194346636C>T	AL833026	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			2005-08-16			ENSG00000145014	ENSG00000145014	ENSG00000145014	ENSG00000145014				25120	25120	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_138399	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	uc010hzn.3	Q2T9K0	Q2T9K0	OTTHUMG00000156023	OTTHUMG00000156023	ENST00000392432.2:c.348G>A	3.37:g.194346636C>T			TMEM44_ENST00000273580.7_Silent_p.K116K|TMEM44_ENST00000330115.3_Silent_p.K13K|TMEM44_ENST00000381975.3_Silent_p.K116K|TMEM44_ENST00000347147.4_Silent_p.K116K|TMEM44_ENST00000473092.1_Silent_p.K116K	p.K116K	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	3	553	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		116		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	ENST00000392432.2	37	c.348G>A	CCDS54699.1																																																																																									0.468	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1		165.109768	9	9	111	111	NM_138399		49	171.209756	171.209756	10	0.830508	0	0	0	1	0	49	10	0.830508	T	194346636	C	T	194346636	2	4	79	1	0	0	0	0	0	0	0	1	16165	564	20	3		3	TMEM44	3	194346636	Silent	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08	141908737	194346636	3675794	6	1506											
SPARCL1	8404	broad.mit.edu	37	4	88414959	88414959	+	Silent	SNP	C	C	T	rs145736129		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr4:88414959C>T	ENST00000282470.6	-	4	1463	c.993G>A	c.(991-993)acG>acA	p.T331T	SPARCL1_ENST00000503414.1_Silent_p.T206T|SPARCL1_ENST00000418378.1_Silent_p.T331T	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	331					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GATTTCTGGGCGTGGTATTAC	0.483													C|||	1	0.000199681	0	0	5008	,	,		20511	0.001		0	False		,,,				2504	0					ENST00000418378.1											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(991-993)acG>acA	SPARC-like 1 (hevin)	C	,	0,4406		0,0,2203	191	159	170		993,993	1.4	0	4	dbSNP_134	170	3,8597	3.7+/-12.6	0,3,4297	no	coding-synonymous,coding-synonymous	SPARCL1	NM_001128310.1,NM_004684.4	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	331/665,331/665	88414959	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8404			signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88414959C>T	X86693	X86693	CCDS3622.1	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583	ENSG00000152583	ENSG00000152583		"EF-hand domain containing"	"EF-hand domain containing"	11220	11220	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606041	606041	"SPARC-like 1 (mast9, hevin)"		"SPARC-like 1 (mast9, hevin)"			8488563, 7600298, 16844696	8488563, 7600298, 16844696	Standard	Standard	NM_001128310	NM_001128310		Approved	MAST9	uc003hqs.4	uc003hqs.4	Q14515	Q14515	OTTHUMG00000130605	OTTHUMG00000130605	ENST00000282470.6:c.993G>A	4.37:g.88414959C>T			SPARCL1_ENST00000282470.6_Silent_p.T331T|SPARCL1_ENST00000503414.1_Silent_p.T206T	p.T331T	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1564	-			331		B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.993G>A	CCDS3622.1																																																																																									0.483	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		193.929610	11	11	141	141			63	194.310057	194.310057	49	0.5625	0	0	0	1	0	63	49	0.5625	T	88414959	C	T	88414959	2	4	79	1	0	0	0	0	0	0	0	1	14995	755	27	1		1	SPARCL1	4	88414959	Silent	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		88414959	102739317	7	1507											
CDC40	51362	broad.mit.edu	37	6	110540993	110540993	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr6:110540993G>A	ENST00000368932.1	+	13	1362	c.1261G>A	c.(1261-1263)Gtc>Atc	p.V421I	CDC40_ENST00000368930.1_Missense_Mutation_p.V421I|CDC40_ENST00000307731.1_Missense_Mutation_p.V421I			O60508	PRP17_HUMAN	cell division cycle 40	421					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTTGGGAGCTGTCAACACCAT	0.408																																						ENST00000368932.1											0			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18						c.(1261-1263)Gtc>Atc	cell division cycle 40						211	190	197					6																	110540993		2203	4300	6503	SO:0001583	missense	51362			mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110540993G>A	AF015044	AF015044	CCDS5081.1	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438	ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	"WD repeat domain containing"	17350	17350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605585	605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"		"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	9769104, 9830021	Standard	Standard	NM_015891	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	uc003pua.3	O60508	O60508	OTTHUMG00000015358	OTTHUMG00000015358	ENST00000368932.1:c.1261G>A	6.37:g.110540993G>A	ENSP00000357928:p.Val421Ile		CDC40_ENST00000368930.1_Missense_Mutation_p.V421I|CDC40_ENST00000307731.1_Missense_Mutation_p.V421I	p.V421I			O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	13	1362	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	421		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.1261G>A	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057298	0.93846	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.51	5.51	0.81932	5.51	5.51	0.81932	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	T	0.67297	0.2878	L	0.41573	1.285	0.80722	D	1	P	0.41848	0.763	P	0.55999	0.789	T	0.64063	-0.6495	10	0.34782	T	0.22	-6.1007	19.43	0.94760	0.0:0.0:1.0:0.0	.	421	O60508	PRP17_HUMAN	I	421	ENSP00000357928:V421I;ENSP00000357929:V421I;ENSP00000357926:V421I;ENSP00000304370:V421I	ENSP00000304370:V421I	V	+	1	0	0	CDC40	110647686	110647686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.589000	0.87451	0.591000	0.81541	GTC		0.408	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1		62.296152	1	1	105	105	NM_015891		26	68.033302	68.033302	77	0.252427	0	0	0	1	0	26	77	0.252427	A	110540993	G	A	110540993	3	1	79	1	0	0	0	0	1	0	0	0	3070	1377	48	3	1307	3	CDC40	6	110540993	Missense_Mutation	SNP	G	TCGA-YZ-A984-01A-11D-A39W-08		110540993	60574074	8	1508											
DHTKD1	55526	broad.mit.edu	37	10	12160871	12160871	+	Silent	SNP	G	G	A	rs143353830	byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr10:12160871G>A	ENST00000263035.4	+	15	2588	c.2526G>A	c.(2524-2526)ccG>ccA	p.P842P	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	842					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GCCCCTTCCCGTTGGATTCTT	0.443																																						ENST00000263035.4											0			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2524-2526)ccG>ccA	dehydrogenase E1 and transketolase domain containing 1	G		3,4403	6.2+/-15.9	0,3,2200	144	140	142		2526	-10.1	0	10	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous	DHTKD1	NM_018706.5		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		842/920	12160871	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55526			glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160871G>A	BC002477	BC002477	CCDS7087.1	CCDS7087.1	10p14	2003-11-24			2003-11-24			ENSG00000181192	ENSG00000181192	ENSG00000181192	ENSG00000181192				23537	23537	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614984	614984						10997877	10997877	Standard	Standard	NM_018706	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	uc001ild.5	Q96HY7	Q96HY7	OTTHUMG00000017677	OTTHUMG00000017677	ENST00000263035.4:c.2526G>A	10.37:g.12160871G>A				p.P842P	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		15	2588	+		Renal(717;0.228)	842		Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.2526G>A	CCDS7087.1																																																																																									0.443	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1		-19.194786	-11	-11	177	177	NM_018706		4	6.464803	6.464803	106	0.036364	0	0	0	1	0	4	106	0.036364	A	12160871	G	A	12160871	2	1	79	1	0	0	0	0	0	0	0	1	4500	1132	40	1		1	DHTKD1	10	12160871	Silent	SNP	G	TCGA-YZ-A984-01A-11D-A39W-08		12160871	123373876	9	1509											
ARID2	196528	broad.mit.edu	37	12	46287220	46287220	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr12:46287220G>A	ENST00000334344.6	+	19	5337	c.5165G>A	c.(5164-5166)gGc>gAc	p.G1722D	ARID2_ENST00000444670.1_Missense_Mutation_p.G1332D|ARID2_ENST00000457135.1_Missense_Mutation_p.G330D|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G1573D	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1722					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACTGTAGGGGGCACAAGCTCA	0.483			"N, S, F"		hepatocellular carcinoma																																	ENST00000334344.6		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(5164-5166)gGc>gAc	AT rich interactive domain 2 (ARID, RFX-like)						71	60	64					12																	46287220		2203	4300	6503	SO:0001583	missense	196528			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46287220G>A			CCDS31783.1	CCDS31783.1	12q13.11	2013-02-07			2013-02-07			ENSG00000189079	ENSG00000189079	ENSG00000189079	ENSG00000189079		"-"	"-"	18037	18037	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609539	609539								Standard	Standard	NM_152641	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	uc001ros.1	Q68CP9	Q68CP9	OTTHUMG00000150487	OTTHUMG00000150487	ENST00000334344.6:c.5165G>A	12.37:g.46287220G>A	ENSP00000335044:p.Gly1722Asp		ARID2_ENST00000422737.1_Missense_Mutation_p.G1573D|ARID2_ENST00000444670.1_Missense_Mutation_p.G1332D|ARID2_ENST00000457135.1_Missense_Mutation_p.G330D|ARID2_ENST00000479608.1_3'UTR	p.G1722D	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	19	5337	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1722		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.5165G>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910338	0.52439	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.32272	1.46	5.4	5.4	0.78164	5.4	5.4	0.78164	.	0.187530	0.48286	D	0.000183	T	0.26521	0.0648	L	0.29908	0.895	0.41564	D	0.988649	B;B;B	0.34290	0.447;0.447;0.242	B;B;B	0.36244	0.22;0.147;0.054	T	0.06427	-1.0827	10	0.49607	T	0.09	-1.9611	14.718	0.69284	0.0:0.2665:0.7335:0.0	.	1722;1332;1722	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	D	1722;839;839;1573;1332;330	ENSP00000335044:G1722D	ENSP00000335044:G1722D	G	+	2	0	0	ARID2	44573487	44573487	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.618000	0.54188	2.536000	0.85505	0.591000	0.81541	GGC		0.483	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		1.415661	2	2	26	26	XM_350875		3	6.711165	6.711165	29	0.09375	0	0	0	1	0	3	29	0.09375	A	46287220	G	A	46287220	3	1	79	1	0	0	0	0	1	0	0	0	915	1203	42	2	5239	2	ARID2	12	46287220	Missense_Mutation	SNP	G	TCGA-YZ-A984-01A-11D-A39W-08		46287220	87564675	10	1510											
HERC2	8924	broad.mit.edu	37	15	28441638	28441638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr15:28441638C>A	ENST00000261609.7	-	51	8197	c.8089G>T	c.(8089-8091)Gag>Tag	p.E2697*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTACCAACTCCATTTCTGAT	0.408																																						ENST00000261609.7											0			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(8089-8091)Gag>Tag	HECT and RLD domain containing E3 ubiquitin protein ligase 2						107	106	106					15																	28441638		2203	4300	6503	SO:0001587	stop_gained	8924			DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28441638C>A	AF071172	AF071172	CCDS10021.1	CCDS10021.1	15q13	2012-02-23	2012-02-23		2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	ENSG00000128731	ENSG00000128731				4868	4868	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605837	605837	"hect domain and RLD 2"		"hect domain and RLD 2"			9949213	9949213	Standard	Standard	NM_004667	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	uc001zbj.4	O95714	O95714	OTTHUMG00000129251	OTTHUMG00000129251	ENST00000261609.7:c.8089G>T	15.37:g.28441638C>A	ENSP00000261609:p.Glu2697*			p.E2697*	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	51	8197	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2697			Nonsense_Mutation	SNP	ENST00000261609.7	37	c.8089G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	48	14.590650	0.99802	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.120957	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3101	0.94184	0.0:1.0:0.0:0.0	.	.	.	.	X	2697	.	ENSP00000261609:E2697X	E	-	1	0	0	HERC2	26115233	26115233	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	7.776000	0.85560	2.649000	0.89929	0.484000	0.47621	GAG		0.408	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		161.638271	25	25	119	119	NM_004667		54	161.690306	161.690306	49	0.524272	1	0	1.72039e-30	1	2.21193e-30	54	49	0.524272	A	28441638	C	A	28441638	4	1	79	1	0	0	0	0	0	1	0	0	7058	864	30	5	6587	5	HERC2	15	28441638	Nonsense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		28441638	74089754	11	1511											
CYLD	1540	broad.mit.edu	37	16	50788282	50788282	+	Missense_Mutation	SNP	G	G	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr16:50788282G>T	ENST00000427738.3	+	4	1065	c.860G>T	c.(859-861)aGt>aTt	p.S287I	CYLD_ENST00000398568.2_Missense_Mutation_p.S287I|CYLD_ENST00000564326.1_Missense_Mutation_p.S287I|CYLD_ENST00000566206.1_Missense_Mutation_p.S287I|CYLD_ENST00000569418.1_Missense_Mutation_p.S287I|CYLD_ENST00000311559.9_Missense_Mutation_p.S287I|CYLD_ENST00000568704.2_Missense_Mutation_p.S287I|CYLD_ENST00000540145.1_Missense_Mutation_p.S287I			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	287	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAGCTTTGTAGTTTTGCGTGT	0.308			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(859-861)aGt>aTt	cylindromatosis (turban tumor syndrome)						161	149	152					16																	50788282		1846	4093	5939	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50788282G>T	AB020656	AB020656	CCDS42164.1, CCDS45482.1	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17			2014-09-17										2584	2584	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	"ubiquitin specific peptidase like 2"	605018	605018		CYLD1		CYLD1		7493027	7493027	Standard	Standard	NM_015247	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	uc002egq.1	Q9NQC7	Q9NQC7			ENST00000427738.3:c.860G>T	16.37:g.50788282G>T	ENSP00000392025:p.Ser287Ile		CYLD_ENST00000568704.2_Missense_Mutation_p.S287I|CYLD_ENST00000427738.3_Missense_Mutation_p.S287I|CYLD_ENST00000566206.1_Missense_Mutation_p.S287I|CYLD_ENST00000569418.1_Missense_Mutation_p.S287I|CYLD_ENST00000398568.2_Missense_Mutation_p.S287I|CYLD_ENST00000311559.9_Missense_Mutation_p.S287I|CYLD_ENST00000564326.1_Missense_Mutation_p.S287I	p.S287I			Q9NQC7	CYLD_HUMAN			6	1275	+		all_cancers(37;0.0156)	287	Interaction with TRIP.	O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.860G>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916209	0.52546	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.98	5.98	0.97165	5.98	5.98	0.97165	Cytoskeleton-associated protein, Gly-rich domain (3);	0.042476	0.85682	D	0.000000	T	0.22898	0.0553	L	0.38175	1.15	0.53688	D	0.999972	P;P;P;P	0.39352	0.669;0.617;0.617;0.669	B;B;B;B	0.38106	0.265;0.173;0.173;0.265	T	0.00787	-1.1566	10	0.51188	T	0.08	-17.329	20.4447	0.99122	0.0:0.0:1.0:0.0	.	287;287;287;287	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	I	287	ENSP00000445447:S287I;ENSP00000308928:S287I;ENSP00000392025:S287I;ENSP00000381574:S287I	ENSP00000308928:S287I	S	+	2	0	0	CYLD	49345783	49345783	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	6.808000	0.75206	2.834000	0.97654	0.655000	0.94253	AGT		0.308	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		-4.119380	-1	-1	54	54			3	6.5529	6.5529	49	0.057692	1	0	1	1	1	3	49	0.057692	T	50788282	G	T	50788282	3	4	79	1	0	0	0	0	1	0	0	0	4143	1029	36	5	870	5	CYLD	16	50788282	Missense_Mutation	SNP	G	TCGA-YZ-A984-01A-11D-A39W-08		50788282	39566471	12	1512											
CNOT1	23019	broad.mit.edu	37	16	58610395	58610395	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr16:58610395C>A	ENST00000317147.5	-	14	2008	c.1676G>T	c.(1675-1677)cGa>cTa	p.R559L	CNOT1_ENST00000569240.1_Missense_Mutation_p.R559L|CNOT1_ENST00000441024.2_Missense_Mutation_p.R559L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	559					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCAAGTATTCGAGACAATTT	0.478																																						ENST00000317147.5											0			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(1675-1677)cGa>cTa	CCR4-NOT transcription complex, subunit 1						187	141	156					16																	58610395		2198	4300	6498	SO:0001583	missense	23019			nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58610395C>A	AL833549	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			2008-02-05			ENSG00000125107	ENSG00000125107	ENSG00000125107	ENSG00000125107				7877	7877	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604917	604917		NOT1		NOT1		14702039	14702039	Standard	Standard	NM_016284	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	uc002env.4	A5YKK6	A5YKK6	OTTHUMG00000133487	OTTHUMG00000133487	ENST00000317147.5:c.1676G>T	16.37:g.58610395C>A	ENSP00000320949:p.Arg559Leu		CNOT1_ENST00000441024.2_Missense_Mutation_p.R559L|CNOT1_ENST00000569240.1_Missense_Mutation_p.R559L	p.R559L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	14	2008	-			559		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1676G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	37	6.308562	0.97462	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.17054	2.3;2.3	5.77	5.77	0.91146	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.91635	0.979;0.997;0.999	T	0.61978	-0.6951	9	.	.	.	11.9105	19.9986	0.97401	0.0:1.0:0.0:0.0	.	559;559;559	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	L	559	ENSP00000320949:R559L;ENSP00000413113:R559L	.	R	-	2	0	0	CNOT1	57167896	57167896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	CGA		0.478	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		-10.436814	-4	-4	119	119	NM_016284		3	6.382469	6.382469	71	0.040541	1	0	1	1	1	3	71	0.040541	A	58610395	C	A	58610395	3	1	79	1	0	0	0	0	1	0	0	0	3617	884	31	5	5820	5	CNOT1	16	58610395	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08	7822113	58610395	31744358	13	1513											
ATP2A3	489	broad.mit.edu	37	17	3833685	3833685	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr17:3833685C>T	ENST00000352011.3	-	18	2708	c.2654G>A	c.(2653-2655)gGc>gAc	p.G885D	ATP2A3_ENST00000397041.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397039.1_Missense_Mutation_p.G69D|ATP2A3_ENST00000309890.7_Missense_Mutation_p.G885D			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	885					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACAGTCGATGCCGGCAAAGAG	0.612																																					GBM(32;29 774 15719 37967)	ENST00000309890.7											0			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2653-2655)gGc>gAc	ATPase, Ca++ transporting, ubiquitous						99	76	84					17																	3833685		2203	4299	6502	SO:0001583	missense	489			ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3833685C>T			CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			2012-10-22			ENSG00000074370	ENSG00000074370	ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	"ATPases / P-type"	813	813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929	601929						8809064	8809064	Standard	Standard	NM_005173	NM_005173		Approved	SERCA3	uc002fwy.2	uc002fwy.2	Q93084	Q93084			ENST00000352011.3:c.2654G>A	17.37:g.3833685C>T	ENSP00000301387:p.Gly885Asp		ATP2A3_ENST00000352011.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397039.1_Missense_Mutation_p.G69D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397043.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G885D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G885D	p.G885D	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	18	2804	-			885		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.2654G>A	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	6.993	0.553332	0.13374	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	3.78	1.37	0.22104	3.78	1.37	0.22104	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.379891	0.28736	N	0.014319	T	0.82254	0.4997	L	0.45470	1.425	0.54753	D	0.999982	B;B;B;B;B;B	0.12013	0.0;0.0;0.0;0.005;0.002;0.001	B;B;B;B;B;B	0.13407	0.001;0.004;0.006;0.009;0.009;0.009	T	0.72030	-0.4413	10	0.30854	T	0.27	.	8.1506	0.31139	0.0:0.7576:0.0:0.2424	.	885;885;885;885;885;885	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	D	885;69;885;885;885;885;885;885	ENSP00000380236:G885D;ENSP00000380232:G69D;ENSP00000301387:G885D;ENSP00000353072:G885D;ENSP00000380234:G885D;ENSP00000312577:G885D;ENSP00000380229:G885D	ENSP00000312577:G885D	G	-	2	0	0	ATP2A3	3780434	3780434	0.019000	0.18553	0.016000	0.15963	0.077000	0.17291	1.418000	0.34782	0.357000	0.24183	0.467000	0.42956	GGC		0.612	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1		2.102147	-14	-14	24	24	NM_174953		3	6.644526	6.644526	26	0.103448	0	0	0	1	0	3	26	0.103448	T	3833685	C	T	3833685	3	4	79	1	0	0	0	0	1	0	0	0	1138	739	26	2	572	2	ATP2A3	17	3833685	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		3833685	77361525	14	1514											
SIGLEC1	6614	broad.mit.edu	37	20	3674277	3674277	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	g.chr20:3674277C>T	ENST00000344754.4	-	13	3324	c.3325G>A	c.(3325-3327)Gtg>Atg	p.V1109M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V1109M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1109	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGGTCCACACAAGGCAGGTC	0.652																																						ENST00000344754.4											0			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3325-3327)Gtg>Atg	sialic acid binding Ig-like lectin 1, sialoadhesin						71	49	57					20																	3674277		2203	4300	6503	SO:0001583	missense	6614			cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3674277C>T	AF230073	AF230073	CCDS13060.1	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	11127	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600751	600751	"sialoadhesin"	SN	"sialoadhesin"	SN		8530048	8530048	Standard	Standard	XM_006723610	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	uc002wja.3	Q9BZZ2	Q9BZZ2	OTTHUMG00000031757	OTTHUMG00000031757	ENST00000344754.4:c.3325G>A	20.37:g.3674277C>T	ENSP00000341141:p.Val1109Met		SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V1109M	p.V1109M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			13	3324	-			1109	Ig-like C2-type 11.	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3325G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822182	0.71028	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.13901	2.55;2.55	5.52	5.52	0.82312	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.206543	0.24314	N	0.039618	T	0.45498	0.1345	M	0.88842	2.985	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.46091	-0.9216	10	0.72032	D	0.01	.	16.9389	0.86210	0.0:1.0:0.0:0.0	.	1109;1109	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	M	1109	ENSP00000341141:V1109M;ENSP00000202578:V1109M	ENSP00000202578:V1109M	V	-	1	0	0	SIGLEC1	3622277	3622277	0.106000	0.21978	0.061000	0.19648	0.941000	0.58515	2.243000	0.43115	2.612000	0.88384	0.655000	0.94253	GTG		0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2		36.398940	-1	-1	27	27	NM_023068		12	36.39894	36.39894	12	0.5	0	0	0	1	0	12	12	0.5	T	3674277	C	T	3674277	3	4	79	1	0	0	0	0	1	0	0	0	14305	478	17	3	1840	3	SIGLEC1	20	3674277	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		3674277	59351243	15	1515											
ISG15	9636	broad.mit.edu	37	1	949767	949767	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:949767C>T	ENST00000379389.4	+	2	558	c.407C>T	c.(406-408)cCg>cTg	p.P136L	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	136	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GACCAGCTCCCGCTGGGGGAG	0.677																																						ENST00000379389.4											0			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(406-408)cCg>cTg	ISG15 ubiquitin-like modifier						45	49	47					1																	949767		2203	4299	6502	SO:0001583	missense	9636			cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding	g.chr1:949767C>T	BC009507	BC009507	CCDS6.1	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608	ENSG00000187608	ENSG00000187608				4053	4053	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147571	147571	"interferon, alpha-inducible protein (clone IFI-15K)"	G1P2	"interferon, alpha-inducible protein (clone IFI-15K)"	G1P2		3087979	3087979	Standard	Standard	NM_005101	NM_005101		Approved	IFI15, UCRP	uc001acj.4	uc001acj.4	P05161	P05161	OTTHUMG00000040777	OTTHUMG00000040777	ENST00000379389.4:c.407C>T	1.37:g.949767C>T	ENSP00000368699:p.Pro136Leu			p.P136L	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	2	558	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	136	Ubiquitin-like 2.	Q5SVA4|Q7Z2G2|Q96GF0	Missense_Mutation	SNP	ENST00000379389.4	37	c.407C>T	CCDS6.1	.	.	.	.	.	.	.	.	.	.	C	6.876	0.531106	0.13127	.	.	ENSG00000187608	ENST00000379389	T	0.73897	-0.79	4.21	-8.43	0.00953	4.21	-8.43	0.00953	Ubiquitin supergroup (1);Ubiquitin (2);	8.594950	0.00166	N	0.000000	T	0.49423	0.1556	N	0.16233	0.39	0.09310	N	1	B	0.28512	0.214	B	0.14023	0.01	T	0.40979	-0.9534	10	0.87932	D	0	-7.5699	0.9151	0.01303	0.2529:0.3409:0.2148:0.1914	.	136	P05161	ISG15_HUMAN	L	136	ENSP00000368699:P136L	ENSP00000368699:P136L	P	+	2	0	0	ISG15	939630	939630	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	-3.609000	0.00415	-1.993000	0.00974	0.561000	0.74099	CCG		0.677	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097989.1		6.847923	-4	-4	52	52	NM_005101		5	12.585325	12.585325	36	0.121951	0	0	0	1	0	5	36	0.121951	T	949767	C	T	949767	3	4	80	1	0	0	0	0	1	0	0	0	7853	652	23	1	413	1	ISG15	1	949767	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		949767	248300854	1	1516											
AGRN	375790	broad.mit.edu	37	1	977395	977395	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:977395C>T	ENST00000379370.2	+	7	1287	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	413	Kazal-like 4. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGGCCGTCCCCGCTGCTCCTG	0.692																																						ENST00000379370.2											0			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1237-1239)Cgc>Tgc	agrin						35	38	37					1																	977395		2202	4295	6497	SO:0001583	missense	375790			axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:977395C>T	XM_372195	XM_372195	CCDS30551.1	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	"Proteoglycans / Extracellular Matrix : Other"	329	329	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"agrin proteoglycan"	"agrin proteoglycan"	103320	103320						1851019, 12270958	1851019, 12270958	Standard	Standard	NM_198576	NM_198576		Approved	AGRIN	uc001ack.2	uc001ack.2	O00468	O00468	OTTHUMG00000040778	OTTHUMG00000040778	ENST00000379370.2:c.1237C>T	1.37:g.977395C>T	ENSP00000368678:p.Arg413Cys			p.R413C	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	7	1287	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	413	Kazal-like 4.	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.1237C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231172	0.58777	.	.	ENSG00000188157	ENST00000379370	T	0.31769	1.48	4.89	3.94	0.45596	4.89	3.94	0.45596	.	0.254698	0.32093	N	0.006588	T	0.59046	0.2165	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.66440	-0.5923	10	0.59425	D	0.04	-14.3216	14.1156	0.65151	0.1518:0.8482:0.0:0.0	.	413	O00468	AGRIN_HUMAN	C	413	ENSP00000368678:R413C	ENSP00000368678:R413C	R	+	1	0	0	AGRN	967258	967258	0.985000	0.35326	0.796000	0.32109	0.628000	0.37860	4.321000	0.59209	0.972000	0.38314	0.609000	0.83330	CGC		0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		35.358454	-11	-11	53	53	NM_198576		13	36.858665	36.858665	30	0.302326	0	0	0	1	0	13	30	0.302326	T	977395	C	T	977395	3	4	80	1	0	0	0	0	1	0	0	0	397	652	23	1	1263	1	AGRN	1	977395	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	27628	977395	248273226	2	1517											
UBE2J2	118424	broad.mit.edu	37	1	1190771	1190771	+	Missense_Mutation	SNP	C	C	T	rs146586696		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:1190771C>T	ENST00000349431.6	-	7	811	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	UBE2J2_ENST00000400929.2_Missense_Mutation_p.V146I|UBE2J2_ENST00000491779.1_5'Flank|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V146I|UBE2J2_ENST00000347370.2_Missense_Mutation_p.V146I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V198I|UBE2J2_ENST00000339385.6_Missense_Mutation_p.V163I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V214I	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	198					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCGTTCTGGACGAGGTGCGTC	0.607																																						ENST00000347370.2											0			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(436-438)Gtc>Atc	ubiquitin-conjugating enzyme E2, J2	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	106	116	112		592,640,436,436	5.1	0.8	1	dbSNP_134	112	0,8600		0,0,4300	no	missense,missense,missense,missense	UBE2J2	NM_058167.2,NM_194315.1,NM_194457.1,NM_194458.1	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	198/260,214/276,146/208,146/208	1190771	1,13005	2203	4300	6503	SO:0001583	missense	118424			response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1190771C>T	AF296658	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087	ENSG00000160087	ENSG00000160087		"Ubiquitin-conjugating enzymes E2"	"Ubiquitin-conjugating enzymes E2"	19268	19268	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"		"ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"			11278356	11278356	Standard	Standard	NM_058167	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	uc001ado.3	Q8N2K1	Q8N2K1	OTTHUMG00000001911	OTTHUMG00000001911	ENST00000349431.6:c.592G>A	1.37:g.1190771C>T	ENSP00000305826:p.Val198Ile		UBE2J2_ENST00000339385.6_Missense_Mutation_p.V163I|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V146I|UBE2J2_ENST00000349431.6_Missense_Mutation_p.V198I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V146I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V198I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V214I	p.V146I	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	7	909	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	198		A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	ENST00000349431.6	37	c.436G>A	CCDS14.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560431	0.27827	2.27E-4	0.0	ENSG00000160087	ENST00000347370;ENST00000349431;ENST00000339385;ENST00000348298;ENST00000400929;ENST00000360466;ENST00000400930	T;T;T;T;T;T;T	0.71934	0.98;-0.02;0.98;0.98;0.98;-0.02;-0.61	5.96	5.05	0.67936	5.96	5.05	0.67936	.	0.141042	0.64402	D	0.000005	T	0.45518	0.1346	N	0.08118	0	0.26837	N	0.968469	B;B;B;P	0.40282	0.059;0.009;0.036;0.711	B;B;B;B	0.26094	0.009;0.002;0.003;0.066	T	0.40136	-0.9579	10	0.35671	T	0.21	-4.811	14.2428	0.65969	0.0:0.9288:0.0:0.0712	.	146;214;198;231	A6NGS0;A8MYC7;Q8N2K1;B1AME9	.;.;UB2J2_HUMAN;.	I	146;198;163;146;146;198;214	ENSP00000344857:V146I;ENSP00000305826:V198I;ENSP00000340197:V163I;ENSP00000342541:V146I;ENSP00000383718:V146I;ENSP00000353653:V198I;ENSP00000383719:V214I	ENSP00000340197:V163I	V	-	1	0	0	UBE2J2	1180634	1180634	1.000000	0.71417	0.795000	0.32087	0.002000	0.02628	5.720000	0.68470	1.539000	0.49286	-0.136000	0.14681	GTC		0.607	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1		22.352952	-30	-30	89	89	NM_058167		12	30.161603	30.161603	61	0.164384	0	0	0	1	0	12	61	0.164384	T	1190771	C	T	1190771	3	4	80	1	0	0	0	0	1	0	0	0	16858	536	19	1	191	1	UBE2J2	1	1190771	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	213376	1190771	248059850	3	1518											
GABRD	2563	hgsc.bcm.edu	37	1	1961509	1961509	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:1961509G>A	ENST00000378585.4	+	9	1230	c.1147G>A	c.(1147-1149)Gtc>Atc	p.V383I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	383					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCAGCGCCGCGTCCCGGGGAA	0.692																																																	0																	24	28	26					1																	1961509		2199	4294	6493	SO:0001583	missense	2563							BC033801	BC033801	CCDS36.1	CCDS36.1	1p36.3	2012-06-22			2012-06-22			ENSG00000187730	ENSG00000187730	ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	4084	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	"GABA(A) receptor, delta"	137163	137163						2176788, 10965146	2176788, 10965146	Standard	Standard	NM_000815	NM_000815		Approved		uc001aip.2	uc001aip.2	O14764	O14764	OTTHUMG00000041064	OTTHUMG00000041064	ENST00000378585.4:c.1147G>A	1.37:g.1961509G>A	ENSP00000367848:p.Val383Ile																	Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37		CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	0.343	-0.949286	0.02304	.	.	ENSG00000187730	ENST00000378585	D	0.85773	-2.03	3.82	-7.14	0.01527	3.82	-7.14	0.01527	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.625020	0.01431	N	0.014756	T	0.63390	0.2507	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.56294	-0.8003	10	0.32370	T	0.25	-19.1726	4.0475	0.09779	0.5989:0.1211:0.158:0.122	.	383	O14764	GBRD_HUMAN	I	383	ENSP00000367848:V383I	ENSP00000367848:V383I	V	+	1	0	0	GABRD	1951369	1951369	0.000000	0.05858	0.000000	0.03702	0.524000	0.34500	-1.926000	0.01562	-1.457000	0.01919	-0.332000	0.08345	GTC		0.692	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1			-8	-8	47	47	NM_000815		9			25							9	25		A	1961509	G	A	1961509	3	1	80	1	0	0	0	0	1	0	0	0	6169	1145	40	1	1181	1	GABRD	1	1961509	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	770738	1961509	247289112	4	1519											
PANK4	55229	broad.mit.edu	37	1	2445850	2445850	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:2445850G>A	ENST00000378466.3	-	11	1442	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	PANK4_ENST00000435556.3_Missense_Mutation_p.A438V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	477					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GAACTTCTCCGCCCTCTCGGC	0.622																																						ENST00000378466.3											0			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(1429-1431)gCg>gTg	pantothenate kinase 4						61	63	62					1																	2445850		2203	4300	6503	SO:0001583	missense	55229			coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2445850G>A	AK001644	AK001644	CCDS42.1	CCDS42.1	1p36.32	2008-02-05			2008-02-05			ENSG00000157881	ENSG00000157881	ENSG00000157881	ENSG00000157881				19366	19366	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606162	606162						11479594	11479594	Standard	Standard	XR_241034	XR_241034		Approved	FLJ10782	uc001ajm.1	uc001ajm.1	Q9NVE7	Q9NVE7	OTTHUMG00000000791	OTTHUMG00000000791	ENST00000378466.3:c.1430C>T	1.37:g.2445850G>A	ENSP00000367727:p.Ala477Val		PANK4_ENST00000435556.3_Missense_Mutation_p.A438V	p.A477V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	11	1442	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	477		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.1430C>T	CCDS42.1	.	.	.	.	.	.	.	.	.	.	g	19.74	3.883731	0.72410	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.16196	2.36;2.36	5.1	5.1	0.69264	5.1	5.1	0.69264	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.968	T	0.53265	-0.8463	10	0.72032	D	0.01	-18.1651	17.482	0.87675	0.0:0.0:1.0:0.0	.	438;477	E9PHT6;Q9NVE7	.;PANK4_HUMAN	V	477;438	ENSP00000367727:A477V;ENSP00000421433:A438V	ENSP00000367727:A477V	A	-	2	0	0	PANK4	2435710	2435710	1.000000	0.71417	0.941000	0.38009	0.023000	0.10783	9.173000	0.94815	2.388000	0.81334	0.556000	0.70494	GCG		0.622	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1		44.486467	-24	-24	82	82			16	45.543904	45.543904	31	0.340426	0	0	0	1	0	16	31	0.340426	A	2445850	G	A	2445850	3	1	80	1	0	0	0	0	1	0	0	0	11419	1087	38	1	927	1	PANK4	1	2445850	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	484341	2445850	246804771	5	1520											
CAMTA1	23261	broad.mit.edu	37	1	7731000	7731000	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:7731000G>A	ENST00000303635.7	+	10	2889	c.2682G>A	c.(2680-2682)ccG>ccA	p.P894P	CAMTA1_ENST00000439411.2_Silent_p.P894P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	894	IPT/TIG.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCACAGGCCCGTGGCAAGAAG	0.597			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2680-2682)ccG>ccA	calmodulin binding transcription activator 1						136	118	124					1																	7731000		2203	4300	6503	SO:0001819	synonymous_variant	23261			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7731000G>A	AB020640	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			2008-07-18			ENSG00000171735	ENSG00000171735	ENSG00000171735	ENSG00000171735				18806	18806	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611501	611501						11925432	11925432	Standard	Standard	NM_001195563	NM_001195563		Approved	KIAA0833	uc001aoi.3	uc001aoi.3	Q9Y6Y1	Q9Y6Y1	OTTHUMG00000001212	OTTHUMG00000001212	ENST00000303635.7:c.2682G>A	1.37:g.7731000G>A			CAMTA1_ENST00000439411.2_Silent_p.P894P	p.P894P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	10	2889	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	894	IPT/TIG.	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2682G>A	CCDS30576.1																																																																																									0.597	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3		121.351265	-37	-37	94	94	NM_015215		38	121.399501	121.399501	34	0.527778	0	0	0	1	0	38	34	0.527778	A	7731000	G	A	7731000	2	1	80	1	0	0	0	0	0	0	0	1	2613	1132	40	1		1	CAMTA1	1	7731000	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5285150	7731000	241519621	6	1521											
RERE	473	broad.mit.edu	37	1	8716302	8716302	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:8716302G>A	ENST00000337907.3	-	3	689	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	RERE_ENST00000400907.2_Missense_Mutation_p.R19W|RERE_ENST00000400908.2_Missense_Mutation_p.R19W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	19					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		tctcggtcccggtctcggtcc	0.527																																						ENST00000337907.3											0			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(55-57)Cgg>Tgg	arginine-glutamic acid dipeptide (RE) repeats						148	154	152					1																	8716302		2203	4300	6503	SO:0001583	missense	473			multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716302G>A	AF016005	AF016005	CCDS95.1, CCDS41243.1	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			2013-01-25			ENSG00000142599	ENSG00000142599	ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	"GATA zinc finger domain containing"	9965	9965	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605226	605226		ATN1L		ATN1L		10814707, 10729226	10814707, 10729226	Standard	Standard	NM_012102	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	uc001apf.3	Q9P2R6	Q9P2R6	OTTHUMG00000001765	OTTHUMG00000001765	ENST00000337907.3:c.55C>T	1.37:g.8716302G>A	ENSP00000338629:p.Arg19Trp		RERE_ENST00000400908.2_Missense_Mutation_p.R19W|RERE_ENST00000400907.2_Missense_Mutation_p.R19W	p.R19W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	689	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	19		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.55C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244346	0.59103	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.52526	0.66;0.66	5.45	2.34	0.29019	5.45	2.34	0.29019	.	.	.	.	.	T	0.52948	0.1766	N	0.24115	0.695	0.48395	D	0.999647	D	0.89917	1.0	D	0.77557	0.99	T	0.56944	-0.7895	9	0.87932	D	0	-17.8329	13.5119	0.61517	0.0:0.0:0.5942:0.4058	.	19	Q9P2R6	RERE_HUMAN	W	19	ENSP00000338629:R19W;ENSP00000383700:R19W	ENSP00000338629:R19W	R	-	1	2	2	RERE	8638889	8638889	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.103000	0.41806	0.623000	0.30267	0.557000	0.71058	CGG		0.527	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		6.075724	-33	-33	130	130			10	23.593272	23.593272	96	0.09434	0	0	0	1	0	10	96	0.09434	A	8716302	G	A	8716302	3	1	80	1	0	0	0	0	1	0	0	0	13231	1115	39	1	4733	1	RERE	1	8716302	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	985302	8716302	240534319	7	1522											
SPSB1	80176	broad.mit.edu	37	1	9416004	9416004	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:9416004G>A	ENST00000328089.6	+	2	395	c.54G>A	c.(52-54)acG>acA	p.T18T	SPSB1_ENST00000357898.3_Silent_p.T18T|SPSB1_ENST00000377399.2_Silent_p.T18T	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	18					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGGACCCCACGTACAGGCCCC	0.582																																						ENST00000328089.6											0			breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.(52-54)acG>acA	splA/ryanodine receptor domain and SOCS box containing 1						91	93	93					1																	9416004		2203	4300	6503	SO:0001819	synonymous_variant	80176			intracellular signal transduction	cytoplasm		g.chr1:9416004G>A			CCDS102.1	CCDS102.1	1p36.22	2008-02-05			2008-02-05			ENSG00000171621	ENSG00000171621	ENSG00000171621	ENSG00000171621				30628	30628	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611657	611657						15713673, 12076535	15713673, 12076535	Standard	Standard	NM_025106	NM_025106		Approved	SSB-1	uc010oae.2	uc010oae.2	Q96BD6	Q96BD6	OTTHUMG00000001279	OTTHUMG00000001279	ENST00000328089.6:c.54G>A	1.37:g.9416004G>A			SPSB1_ENST00000377399.2_Silent_p.T18T|SPSB1_ENST00000357898.3_Silent_p.T18T	p.T18T	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	395	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	18		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	ENST00000328089.6	37	c.54G>A	CCDS102.1																																																																																									0.582	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2		-3.918084	-7	-7	59	59	NM_025106		3	6.75262	6.75262	49	0.057692	0	0	0	1	0	3	49	0.057692	A	9416004	G	A	9416004	2	1	80	1	0	0	0	0	0	0	0	1	15111	1132	40	1		1	SPSB1	1	9416004	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	699702	9416004	239834617	8	1523											
DHRS3	9249	broad.mit.edu	37	1	12677172	12677172	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:12677172C>T	ENST00000376223.2	-	1	565	c.182G>A	c.(181-183)cGc>cAc	p.R61H	DHRS3_ENST00000482265.1_5'Flank|RP11-474O21.5_ENST00000606790.1_lincRNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	61					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)	p.R61H(1)		cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCTGGCGCCGCGCTCCGCGAA	0.746																																						ENST00000376223.2											1	Substitution - Missense(1)	cervix(1)	cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9						c.(181-183)cGc>cAc	dehydrogenase/reductase (SDR family) member 3						19	23	22					1																	12677172		2195	4277	6472	SO:0001583	missense	9249			retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	g.chr1:12677172C>T	AF061741	AF061741	CCDS146.1	CCDS146.1	1p36.1	2011-09-20			2011-09-20			ENSG00000162496	ENSG00000162496	ENSG00000162496	ENSG00000162496	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	17693	17693	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 1"	"short chain dehydrogenase/reductase family 16C, member 1"	612830	612830						9705317, 12226107, 19027726	9705317, 12226107, 19027726	Standard	Standard	XM_005263533	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	uc001auc.3	O75911	O75911	OTTHUMG00000001885	OTTHUMG00000001885	ENST00000376223.2:c.182G>A	1.37:g.12677172C>T	ENSP00000365397:p.Arg61His			p.R61H	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	1	565	-	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	61		B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	37	c.182G>A	CCDS146.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208849	0.39003	.	.	ENSG00000162496	ENST00000376223	D	0.88509	-2.39	5.04	5.04	0.67666	5.04	5.04	0.67666	NAD(P)-binding domain (1);	0.057178	0.64402	D	0.000001	T	0.81389	0.4812	L	0.35593	1.075	0.49299	D	0.999772	B;B;B	0.28667	0.002;0.219;0.004	B;B;B	0.26310	0.001;0.068;0.002	T	0.76677	-0.2871	10	0.21014	T	0.42	.	10.937	0.47251	0.0:0.9142:0.0:0.0858	.	61;61;61	B2R7F3;O75911-2;O75911	.;.;DHRS3_HUMAN	H	61	ENSP00000365397:R61H	ENSP00000365397:R61H	R	-	2	0	0	DHRS3	12599759	12599759	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.571000	0.53841	2.318000	0.78349	0.462000	0.41574	CGC		0.746	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1		15.840722	-1	-1	31	31	NM_004753		6	16.706419	16.706419	15	0.285714	0	0	0	1	0	6	15	0.285714	T	12677172	C	T	12677172	3	4	80	1	0	0	0	0	1	0	0	0	4491	768	27	1	750	1	DHRS3	1	12677172	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3261168	12677172	236573449	9	1524											
ARHGEF10L	55160	broad.mit.edu	37	1	17958885	17958885	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:17958885G>A	ENST00000361221.3	+	16	1813	c.1654G>A	c.(1654-1656)Ggg>Agg	p.G552R	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.G310R|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.G552R|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G260R|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G513R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G330R|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G513R	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	552						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGGTGACCGCGGGCAGCTAAT	0.592																																						ENST00000361221.3											0			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1654-1656)Ggg>Agg	Rho guanine nucleotide exchange factor (GEF) 10-like						125	124	124					1																	17958885		2203	4300	6503	SO:0001583	missense	55160			regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17958885G>A	AB046846	AB046846	CCDS182.1, CCDS30617.1	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			2011-11-16			ENSG00000074964	ENSG00000074964	ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	"Rho guanine nucleotide exchange factors"	25540	25540	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"GrinchGEF"	"GrinchGEF"	612494	612494						10997877, 16112081	10997877, 16112081	Standard	Standard	XM_005245923	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	uc001ban.3	Q9HCE6	Q9HCE6	OTTHUMG00000002514	OTTHUMG00000002514	ENST00000361221.3:c.1654G>A	1.37:g.17958885G>A	ENSP00000355060:p.Gly552Arg		ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.G310R|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.G552R|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G513R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G330R|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G513R|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G260R	p.G552R	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	16	1813	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	552		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1654G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951786	0.73787	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.44	5.44	0.79542	5.44	5.44	0.79542	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.78456	2.415	0.58432	D	0.999991	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.999;0.998;1.0;1.0;0.999;1.0;0.956;0.927	T	0.45600	-0.9250	10	0.87932	D	0	-27.9363	17.8089	0.88609	0.0:0.0:1.0:0.0	.	330;310;552;260;318;513;513;552	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	R	552;513;552;513;310;330;330;260	ENSP00000355060:G552R;ENSP00000399401:G513R;ENSP00000394621:G552R;ENSP00000364564:G513R;ENSP00000364569:G310R;ENSP00000364557:G330R;ENSP00000167825:G260R	ENSP00000167825:G260R	G	+	1	0	0	ARHGEF10L	17831472	17831472	1.000000	0.71417	0.954000	0.39281	0.243000	0.25628	9.357000	0.97099	2.545000	0.85829	0.561000	0.74099	GGG		0.592	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1		6.377963	-8	-8	132	132	NM_018125		10	23.380663	23.380663	94	0.096154	0	0	0	1	0	10	94	0.096154	A	17958885	G	A	17958885	3	1	80	1	0	0	0	0	1	0	0	0	895	1116	39	1	1712	1	ARHGEF10L	1	17958885	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5281713	17958885	231291736	10	1525											
TAS1R2	80834	broad.mit.edu	37	1	19181079	19181079	+	Silent	SNP	G	G	A	rs148401055		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:19181079G>A	ENST00000375371.3	-	3	906	c.885C>T	c.(883-885)ggC>ggT	p.G295G	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	295					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.G295G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCCACACGGCGCCAGTGAAGT	0.632																																						ENST00000375371.3											1	Substitution - coding silent(1)	breast(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(883-885)ggC>ggT	taste receptor, type 1, member 2	G		0,4406		0,0,2203	55	53	53		885	1.9	0	1	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS1R2	NM_152232.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		295/840	19181079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80834			detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181079G>A			CCDS187.1	CCDS187.1	1p36.13	2012-08-22	2003-03-07		2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002	ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	14905	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606226	606226	"G protein-coupled receptor 71"	GPR71	"G protein-coupled receptor 71"	GPR71				Standard	Standard	NM_152232	NM_152232		Approved	T1R2, TR2	uc001bba.1	uc001bba.1	Q8TE23	Q8TE23	OTTHUMG00000002442	OTTHUMG00000002442	ENST00000375371.3:c.885C>T	1.37:g.19181079G>A			RP13-279N23.2_ENST00000494072.3_3'UTR	p.G295G	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	906	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	295		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.885C>T	CCDS187.1																																																																																									0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		19.721867	-17	-17	28	28			7	19.736468	19.736468	8	0.466667	0	0	0	1	0	7	8	0.466667	A	19181079	G	A	19181079	2	1	80	1	0	0	0	0	0	0	0	1	15560	1074	38	1		1	TAS1R2	1	19181079	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1222194	19181079	230069542	11	1526											
KIAA0090	23065	broad.mit.edu	37	1	19557911	19557911	+	Silent	SNP	C	C	T	rs150315726		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:19557911C>T	ENST00000477853.1	-	16	1830	c.1788G>A	c.(1786-1788)tcG>tcA	p.S596S	EMC1_ENST00000375208.3_Silent_p.S574S|EMC1_ENST00000375199.3_Silent_p.S595S|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	596						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AACTCATTCCCGACTCCTAAA	0.502																																						ENST00000477853.1											0										c.(1786-1788)tcG>tcA	ER membrane protein complex subunit 1	C		2,4404	4.2+/-10.8	0,2,2201	40	41	40		1788	-3.8	1	1	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	KIAA0090	NM_015047.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		596/994	19557911	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23065						g.chr1:19557911C>T			CCDS190.1, CCDS59190.1, CCDS59191.1	CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463	ENSG00000127463	ENSG00000127463				28957	28957	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"KIAA0090"	KIAA0090	"KIAA0090"	KIAA0090		22119785	22119785	Standard	Standard	NM_015047	NM_015047		Approved		uc001bbo.4	uc001bbo.4	Q8N766	Q8N766	OTTHUMG00000002497	OTTHUMG00000002497	ENST00000477853.1:c.1788G>A	1.37:g.19557911C>T			RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.S574S|EMC1_ENST00000375199.3_Silent_p.S595S	p.S596S	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1					16	1830	-					A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.1788G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	8.021	0.759725	0.15846	4.54E-4	0.0	ENSG00000127463	ENST00000375197	.	.	.	4.87	-3.78	0.04333	4.87	-3.78	0.04333	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38757	-0.9646	4	.	.	.	.	3.5369	0.07796	0.1244:0.1479:0.1236:0.6041	.	.	.	.	R	330	.	.	G	-	1	0	0	KIAA0090	19430498	19430498	0.007000	0.16637	0.994000	0.49952	0.801000	0.45260	-1.550000	0.02180	-0.239000	0.09710	0.462000	0.41574	GGG		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2		24.901521	-9	-9	35	35	NM_015047		8	25.052987	25.052987	5	0.615385	0	0	0	1	0	8	5	0.615385	T	19557911	C	T	19557911	2	4	80	1	0	0	0	0	0	0	0	1	8153	639	23	1		1	KIAA0090	1	19557911	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	376832	19557911	229692710	12	1527											
AKR7L	246181	broad.mit.edu	37	1	19596161	19596161	+	RNA	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:19596161C>T	ENST00000429712.1	-	0	639				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGGGTGGTGGCGCTGTACATG	0.552																																						ENST00000420396.2											0			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6							aldo-keto reductase family 7-like						80	80	80					1																	19596161		692	1591	2283			246181						g.chr1:19596161C>T					1p36.1-p35	2008-12-09			2008-12-09			ENSG00000211454	ENSG00000211454	ENSG00000211454	ENSG00000211454				24056	24056	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608478	608478						12879023	12879023	Standard	Standard	NR_040288	NR_040288		Approved	AFAR3	uc021ohn.1	uc021ohn.1	Q8NHP1	Q8NHP1	OTTHUMG00000002520	OTTHUMG00000002520		1.37:g.19596161C>T			AKR7L_ENST00000429712.1_RNA								0	507	-					Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	C	16.18	3.049958	0.55218	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	3.67	2.74	0.32292	3.67	2.74	0.32292	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.73528	-0.3954	8	0.41790	T	0.15	.	10.4637	0.44594	0.0:0.8992:0.0:0.1008	.	174	Q8NHP1	ARK74_HUMAN	T	174;139	.	ENSP00000373538:A139T	A	-	1	0	0	AKR7L	19468748	19468748	1.000000	0.71417	0.979000	0.43373	0.151000	0.21798	4.329000	0.59260	0.870000	0.35726	0.305000	0.20034	GCC		0.552	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3		47.265975	19	19	43	43	NM_201252		14	48.565961	48.565961	4	0.777778	0	0	0	1	0	14	4	0.777778	T	19596161	C	T	19596161	1	4	80	0	1	0	0	0	0	0	0	0	477	768	27	1		1	AKR7L	1	19596161	RNA	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	38250	19596161	229654460	13	1528											
NBPF3	84224	broad.mit.edu	37	1	21809642	21809642	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:21809642C>T	ENST00000318249.5	+	15	2015	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N	NBPF3_ENST00000342104.5_Silent_p.N543N|NBPF3_ENST00000454000.2_Silent_p.N485N|NBPF3_ENST00000318220.6_Silent_p.N499N	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	555	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAGGCTCAACGAGGTGCTGA	0.458																																						ENST00000318220.6											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1495-1497)aaC>aaT	neuroblastoma breakpoint family, member 3						65	66	66					1																	21809642		2199	4294	6493	SO:0001819	synonymous_variant	84224				cytoplasm		g.chr1:21809642C>T	BC024011	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			2013-01-17			ENSG00000142794	ENSG00000142794	ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	"neuroblastoma breakpoint family"	25076	25076	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612992	612992						11230166, 16079250	11230166, 16079250	Standard	Standard	NM_032264	NM_032264		Approved	AE2	uc001ber.4	uc001ber.4	Q9H094	Q9H094	OTTHUMG00000002944	OTTHUMG00000002944	ENST00000318249.5:c.1665C>T	1.37:g.21809642C>T			NBPF3_ENST00000454000.2_Silent_p.N485N|NBPF3_ENST00000342104.5_Silent_p.N543N|NBPF3_ENST00000318249.5_Silent_p.N555N	p.N499N			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	18	2545	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	555	NBPF 4.	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.1497C>T	CCDS216.1																																																																																									0.458	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			103.694307	-16	-16	130	130	NM_032264		32	103.725985	103.725985	29	0.52459	0	0	0	1	0	32	29	0.52459	T	21809642	C	T	21809642	2	4	80	1	0	0	0	0	0	0	0	1	10197	535	19	1		1	NBPF3	1	21809642	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2213481	21809642	227440979	14	1529											
ALPL	249	broad.mit.edu	37	1	21903969	21903969	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:21903969C>T	ENST00000374840.3	+	12	1653	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	ALPL_ENST00000539907.1_Missense_Mutation_p.A391V|ALPL_ENST00000540617.1_Missense_Mutation_p.A413V|ALPL_ENST00000374832.1_Missense_Mutation_p.A468V|ALPL_ENST00000374830.1_Missense_Mutation_p.A114V|ALPL_ENST00000374829.1_Missense_Mutation_p.A114V|ALPL_ENST00000425315.2_Missense_Mutation_p.A468V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	468			A -> T (in HOPS). {ECO:0000269|PubMed:12815606}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGCCCCATGGCGCACCTGCTG	0.677																																						ENST00000374840.3											0			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1402-1404)gCg>gTg	alkaline phosphatase, liver/bone/kidney						48	45	46					1																	21903969		2203	4297	6500	SO:0001583	missense	249			response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21903969C>T	BC021289	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			2008-02-05			ENSG00000162551	ENSG00000162551	ENSG00000162551	ENSG00000162551	3.1.3.1			438	438	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			171760	171760		HOPS		HOPS		3532105, 3446011	3532105, 3446011	Standard	Standard	NM_001127501	NM_001127501		Approved	TNSALP	uc001bet.3	uc001bet.3	P05186	P05186	OTTHUMG00000002949	OTTHUMG00000002949	ENST00000374840.3:c.1403C>T	1.37:g.21903969C>T	ENSP00000363973:p.Ala468Val		ALPL_ENST00000425315.2_Missense_Mutation_p.A468V|ALPL_ENST00000540617.1_Missense_Mutation_p.A413V|ALPL_ENST00000374830.1_Missense_Mutation_p.A114V|ALPL_ENST00000539907.1_Missense_Mutation_p.A391V|ALPL_ENST00000374829.1_Missense_Mutation_p.A114V|ALPL_ENST00000374832.1_Missense_Mutation_p.A468V	p.A468V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	12	1653	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	468		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.1403C>T	CCDS217.1	.	.	.	.	.	.	.	.	.	.	c	32	5.190715	0.94923	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	4.91	4.91	0.64330	4.91	4.91	0.64330	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98868	0.9617	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.992;0.999	D	0.99260	1.0890	10	0.87932	D	0	0.79	15.6427	0.77020	0.0:1.0:0.0:0.0	.	391;416;468	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	V	391;413;468;468;468;114;114	ENSP00000437674:A391V;ENSP00000442672:A413V;ENSP00000363973:A468V;ENSP00000363965:A468V;ENSP00000394765:A468V;ENSP00000363963:A114V;ENSP00000363962:A114V	ENSP00000363962:A114V	A	+	2	0	0	ALPL	21776556	21776556	1.000000	0.71417	0.956000	0.39512	0.920000	0.55202	7.228000	0.78079	2.565000	0.86533	0.556000	0.70494	GCG		0.677	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1		0.766218	-16	-16	59	59	NM_000478		4	7.946457	7.946457	39	0.093023	0	0	0	1	0	4	39	0.093023	T	21903969	C	T	21903969	3	4	80	1	0	0	0	0	1	0	0	0	547	768	27	1	1445	1	ALPL	1	21903969	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	94327	21903969	227346652	15	1530											
HSPG2	3339	broad.mit.edu	37	1	22176662	22176662	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:22176662G>A	ENST00000374695.3	-	57	7397	c.7318C>T	c.(7318-7320)Cgg>Tgg	p.R2440W	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2440	Ig-like C2-type 10.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GACTCGATCCGGACCGTGGGG	0.637																																						ENST00000374695.3											0			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7318-7320)Cgg>Tgg	heparan sulfate proteoglycan 2						45	50	48					1																	22176662		2203	4300	6503	SO:0001583	missense	3339			angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22176662G>A	M85289	M85289	CCDS30625.1	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	5273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"perlecan proteoglycan"	"perlecan proteoglycan"	142461	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	1685141, 11941538	Standard	Standard	XM_005245863	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	uc001bfj.3	P98160	P98160	OTTHUMG00000002674	OTTHUMG00000002674	ENST00000374695.3:c.7318C>T	1.37:g.22176662G>A	ENSP00000363827:p.Arg2440Trp		HSPG2_ENST00000430507.1_3'UTR	p.R2440W	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	57	7397	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2440	Ig-like C2-type 10.	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7318C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844619	0.71488	.	.	ENSG00000142798	ENST00000374695	T	0.15487	2.42	5.29	4.29	0.51040	5.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34725	N	0.003728	T	0.43942	0.1270	M	0.83603	2.65	0.47584	D	0.99946	D;D	0.89917	1.0;1.0	D;D	0.72982	0.978;0.979	T	0.47787	-0.9090	10	0.66056	D	0.02	.	14.2236	0.65843	0.0:0.0:0.8404:0.1596	.	380;2440	Q59EG0;P98160	.;PGBM_HUMAN	W	2440	ENSP00000363827:R2440W	ENSP00000363827:R2440W	R	-	1	2	2	HSPG2	22049249	22049249	0.919000	0.31177	1.000000	0.80357	0.875000	0.50365	1.513000	0.35823	2.478000	0.83669	0.561000	0.74099	CGG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		29.605460	-15	-15	58	58	NM_005529		11	31.930212	31.930212	32	0.255814	0	0	0	1	0	11	32	0.255814	A	22176662	G	A	22176662	3	1	80	1	0	0	0	0	1	0	0	0	7430	1115	39	1	6021	1	HSPG2	1	22176662	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	272693	22176662	227073959	16	1531											
GRHL3	57822	broad.mit.edu	37	1	24669203	24669203	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:24669203G>A	ENST00000350501.5	+	10	1353	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	GRHL3_ENST00000342072.4_Missense_Mutation_p.R316H|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414H|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363H|GRHL3_ENST00000361548.4_Missense_Mutation_p.R409H	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	409					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AGGAAGATGCGCGATGACGAG	0.607																																						ENST00000361548.4											0			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1225-1227)cGc>cAc	grainyhead-like 3 (Drosophila)						91	91	91					1																	24669203		2203	4300	6503	SO:0001583	missense	57822			regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669203G>A	AY231161	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055	ENSG00000158055	ENSG00000158055				25839	25839	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608317	608317	"transcription factor CP2-like 4"	TFCP2L4	"transcription factor CP2-like 4"	TFCP2L4		12549979	12549979	Standard	Standard	NM_021180	NM_021180		Approved	SOM	uc021oiw.1	uc021oiw.1	Q8TE85	Q8TE85	OTTHUMG00000003040	OTTHUMG00000003040	ENST00000350501.5:c.1226G>A	1.37:g.24669203G>A	ENSP00000288955:p.Arg409His		GRHL3_ENST00000342072.4_Missense_Mutation_p.R316H|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363H|GRHL3_ENST00000350501.5_Missense_Mutation_p.R409H|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414H	p.R409H	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	10	1456	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	409		A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1226G>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	33	5.252673	0.95336	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.963;0.966;0.966	T	0.54964	-0.8214	10	0.87932	D	0	-26.275	17.3827	0.87408	0.0:0.0:1.0:0.0	.	363;414;409	A2A297;Q8TE85-2;G3XAF0	.;.;.	H	409;316;409;363;414	ENSP00000354943:R409H;ENSP00000340543:R316H;ENSP00000288955:R409H;ENSP00000348333:R363H;ENSP00000236255:R414H	ENSP00000236255:R414H	R	+	2	0	0	GRHL3	24541790	24541790	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.306000	0.96204	2.585000	0.87301	0.655000	0.94253	CGC		0.607	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2		43.724237	0	0	112	112	NM_021180		16	45.702628	45.702628	38	0.296296	0	0	0	1	0	16	38	0.296296	A	24669203	G	A	24669203	3	1	80	1	0	0	0	0	1	0	0	0	6765	1087	38	1	1300	1	GRHL3	1	24669203	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2492541	24669203	224581418	17	1532											
TRIM63	84676	broad.mit.edu	37	1	26386770	26386770	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:26386770C>T	ENST00000374272.3	-	4	722	c.584G>A	c.(583-585)cGt>cAt	p.R195H	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	195	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)		GGTCACTCGACGGGAATCCTC	0.572																																						ENST00000374272.3											0			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(583-585)cGt>cAt	tripartite motif containing 63, E3 ubiquitin protein ligase						113	106	108					1																	26386770		2203	4300	6503	SO:0001583	missense	84676				cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26386770C>T	AF353673	AF353673	CCDS273.1	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022	ENSG00000158022	ENSG00000158022		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	16007	16007	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	606131	606131	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28		11243782, 11283016	11243782, 11283016	Standard	Standard	NM_032588	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	uc001bli.2	Q969Q1	Q969Q1	OTTHUMG00000007510	OTTHUMG00000007510	ENST00000374272.3:c.584G>A	1.37:g.26386770C>T	ENSP00000363390:p.Arg195His			p.R195H	NM_032588.3	NP_115977.2	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)	4	722	-		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)	195	Interaction with TTN.	B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	c.584G>A	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228760	0.79576	.	.	ENSG00000158022	ENST00000374272	T	0.42900	0.96	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.128263	0.85682	D	0.000000	T	0.29620	0.0739	N	0.08118	0	0.35647	D	0.811443	P	0.50156	0.932	B	0.42522	0.39	T	0.48375	-0.9041	10	0.72032	D	0.01	.	18.7199	0.91689	0.0:1.0:0.0:0.0	.	195	Q969Q1	TRI63_HUMAN	H	195	ENSP00000363390:R195H	ENSP00000363390:R195H	R	-	2	0	0	TRIM63	26259357	26259357	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.717000	0.84732	2.574000	0.86865	0.462000	0.41574	CGT		0.572	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1		67.942848	15	15	79	79	NM_032588		22	68.152172	68.152172	29	0.431373	0	0	0	1	0	22	29	0.431373	T	26386770	C	T	26386770	3	4	80	1	0	0	0	0	1	0	0	0	16535	536	19	1	501	1	TRIM63	1	26386770	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1717567	26386770	222863851	18	1533											
SFRS4	6429	broad.mit.edu	37	1	29475634	29475634	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:29475634C>T	ENST00000373795.4	-	6	1007	c.773G>A	c.(772-774)cGc>cAc	p.R258H	SRSF4_ENST00000546138.1_Silent_p.P156P|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	258	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GCTATGGCTGCGGCTGCGGCT	0.597																																						ENST00000373795.4											0			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(772-774)cGc>cAc	serine/arginine-rich splicing factor 4						133	148	143					1																	29475634		2203	4300	6503	SO:0001583	missense	6429			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475634C>T	BC002781	BC002781	CCDS333.1	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	10786	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"SR splicing factor 4"	"SR splicing factor 4"	601940	601940	"splicing factor, arginine/serine-rich 4"	SFRS4	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	8321209, 20516191	Standard	Standard	NM_005626	NM_005626		Approved	SRP75	uc001bro.3	uc001bro.3	Q08170	Q08170	OTTHUMG00000003663	OTTHUMG00000003663	ENST00000373795.4:c.773G>A	1.37:g.29475634C>T	ENSP00000362900:p.Arg258His		SRSF4_ENST00000546138.1_Silent_p.P156P|SRSF4_ENST00000466448.1_5'UTR	p.R258H	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1007	-			258	Arg/Ser-rich (RS domain).	Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.773G>A	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679701	0.47886	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.16897	2.31	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.230484	0.38548	N	0.001647	T	0.33469	0.0864	L	0.48642	1.525	0.80722	D	1	D	0.71674	0.998	P	0.59487	0.858	T	0.00787	-1.1566	10	0.52906	T	0.07	.	18.6474	0.91416	0.0:1.0:0.0:0.0	.	258	Q08170	SRSF4_HUMAN	H	258	ENSP00000362900:R258H	ENSP00000362900:R258H	R	-	2	0	0	SRSF4	29348221	29348221	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.380000	0.44327	2.653000	0.90120	0.655000	0.94253	CGC		0.597	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1		329.327359	-94	-94	214	214	NM_005626		106	329.90029	329.90029	131	0.447257	0	0	0	1	0	106	131	0.447257	T	29475634	C	T	29475634	3	4	80	1	0	0	0	0	1	0	0	0	14179	768	27	1	715	1	SFRS4	1	29475634	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3088864	29475634	219774987	19	1534											
PTPRU	10076	broad.mit.edu	37	1	29638168	29638168	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:29638168G>A	ENST00000345512.3	+	22	3128	c.2999G>A	c.(2998-3000)cGg>cAg	p.R1000Q	PTPRU_ENST00000428026.2_Missense_Mutation_p.R987Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.R996Q|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Missense_Mutation_p.R996Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R990Q|PTPRU_ENST00000323874.8_Missense_Mutation_p.R996Q	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1000	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AAATGCTCACGGTACTGGCCG	0.617																																						ENST00000356870.3											0			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2986-2988)cGg>cAg	protein tyrosine phosphatase, receptor type, U						95	88	90					1																	29638168		2203	4300	6503	SO:0001583	missense	10076			canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29638168G>A	U71075	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			2013-02-11			ENSG00000060656	ENSG00000060656	ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	9683	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	"pi R-PTP-Psi"	602454	602454						8700514, 9434160	8700514, 9434160	Standard	Standard	NM_133178	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	uc001bru.3	Q92729	Q92729	OTTHUMG00000003699	OTTHUMG00000003699	ENST00000345512.3:c.2999G>A	1.37:g.29638168G>A	ENSP00000334941:p.Arg1000Gln		PTPRU_ENST00000428026.2_Missense_Mutation_p.R987Q|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R996Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R990Q|PTPRU_ENST00000345512.3_Missense_Mutation_p.R1000Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R996Q	p.R996Q	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	22	3097	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1000	Tyrosine-protein phosphatase 1.	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2987G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	7.767	0.706569	0.15239	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68	4.67	4.67	0.58626	4.67	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.071954	0.56097	D	0.000038	T	0.04182	0.0116	N	0.00358	-1.6	0.39989	D	0.975012	P;P;P;P;P	0.46395	0.741;0.851;0.741;0.877;0.877	B;B;B;B;B	0.31614	0.081;0.081;0.081;0.133;0.133	T	0.26052	-1.0114	9	.	.	.	.	6.6842	0.23136	0.1925:0.0:0.8075:0.0	.	987;996;990;996;1000	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	Q	1000;990;996;996;987;996	ENSP00000334941:R1000Q;ENSP00000362884:R990Q;ENSP00000349333:R996Q;ENSP00000314987:R996Q;ENSP00000392332:R987Q;ENSP00000432906:R996Q	.	R	+	2	0	0	PTPRU	29510755	29510755	1.000000	0.71417	0.987000	0.45799	0.685000	0.39939	7.439000	0.80444	2.592000	0.87571	0.591000	0.81541	CGG		0.617	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		75.696483	-27	-27	76	76			24	75.798804	75.798804	29	0.45283	0	0	0	1	0	24	29	0.45283	A	29638168	G	A	29638168	3	1	80	1	0	0	0	0	1	0	0	0	12813	1116	39	1	3107	1	PTPRU	1	29638168	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	162534	29638168	219612453	20	1535											
ZSCAN20	7579	broad.mit.edu	37	1	33960849	33960849	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:33960849C>T	ENST00000361328.3	+	8	3058	c.2905C>T	c.(2905-2907)Cgt>Tgt	p.R969C		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	969					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAAATTCTTCCGTGACCGTTC	0.498																																						ENST00000361328.3											0			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2905-2907)Cgt>Tgt	zinc finger and SCAN domain containing 20						86	98	94					1																	33960849		2133	4266	6399	SO:0001583	missense	7579			viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960849C>T	X52360	X52360	CCDS41300.1	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	"-", "Zinc fingers, C2H2-type"	13093	13093	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611315	611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	2288909	Standard	Standard	NM_145238	NM_145238		Approved	KOX29	uc001bxj.4	uc001bxj.4	P17040	P17040	OTTHUMG00000004173	OTTHUMG00000004173	ENST00000361328.3:c.2905C>T	1.37:g.33960849C>T	ENSP00000355053:p.Arg969Cys			p.R969C	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN			8	3058	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	969		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2905C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645830	0.47258	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	2.62	0.31277	5.66	2.62	0.31277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.214120	0.33199	N	0.005163	T	0.56292	0.1975	M	0.65975	2.015	0.23391	N	0.997777	D;D	0.89917	1.0;1.0	P;D	0.79784	0.878;0.993	T	0.42565	-0.9444	9	0.56958	D	0.05	-10.9767	7.3491	0.26680	0.4334:0.4902:0.0:0.0764	.	968;969	P17040-3;P17040	.;ZSC20_HUMAN	C	969;903;903	.	ENSP00000324450:R969C	R	+	1	0	0	ZSCAN20	33733436	33733436	0.156000	0.22821	0.986000	0.45419	0.997000	0.91878	0.294000	0.19047	0.705000	0.31890	0.655000	0.94253	CGT		0.498	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2		62.429652	6	6	62	62	NM_145238		19	62.594908	62.594908	14	0.575758	0	0	0	1	0	19	14	0.575758	T	33960849	C	T	33960849	3	4	80	1	0	0	0	0	1	0	0	0	18229	652	23	1	2931	1	ZSCAN20	1	33960849	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4322681	33960849	215289772	21	1536											
CSMD2	114784	broad.mit.edu	37	1	34090146	34090146	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:34090146G>A	ENST00000373380.1	-	14	2437	c.2217C>T	c.(2215-2217)atC>atT	p.I739I	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.I1866I|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1826	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGGACCACGATCTTCCACA	0.647																																						ENST00000373381.4											0			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5596-5598)atC>atT	CUB and Sushi multiple domains 2						129	106	114					1																	34090146		2203	4300	6503	SO:0001819	synonymous_variant	114784				integral to membrane|plasma membrane	protein binding	g.chr1:34090146G>A	AY210418	AY210418	CCDS380.1, CCDS60082.1	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			2014-01-28			ENSG00000121904	ENSG00000121904	ENSG00000121904	ENSG00000121904				19290	19290	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608398	608398						11472063, 11572484	11472063, 11572484	Standard	Standard	NM_001281956	NM_001281956		Approved	KIAA1884	uc001bxn.1	uc001bxn.1	Q7Z408	Q7Z408	OTTHUMG00000011135	OTTHUMG00000011135	ENST00000373380.1:c.2217C>T	1.37:g.34090146G>A			CSMD2_ENST00000373380.1_Silent_p.I739I|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR	p.I1866I	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN			35	5774	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1826	CUB 11.	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.5598C>T																																																																																										0.647	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4		17.372585	-13	-13	71	71	NM_052896		8	21.988193	21.988193	38	0.173913	0	0	0	1	0	8	38	0.173913	A	34090146	G	A	34090146	2	1	80	1	0	0	0	0	0	0	0	1	3945	1048	37	1		1	CSMD2	1	34090146	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	129297	34090146	215160475	22	1537											
DLGAP3	58512	broad.mit.edu	37	1	35365688	35365688	+	Missense_Mutation	SNP	C	C	T	rs377551672		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:35365688C>T	ENST00000373347.1	-	4	1562	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.V432M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	432					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCTGGTCCACGCTGGAGGAG	0.647																																						ENST00000373347.1											0			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(1294-1296)Gtg>Atg	discs, large (Drosophila) homolog-associated protein 3	C	MET/VAL	0,4406		0,0,2203	59	56	57		1294	4.6	1	1		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	DLGAP3	NM_001080418.1	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	432/980	35365688	1,13005	2203	4300	6503	SO:0001583	missense	58512			cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365688C>T	AF131778	AF131778	CCDS30670.1	CCDS30670.1	1p35.3-p34.1	2008-02-05			2008-02-05			ENSG00000116544	ENSG00000116544	ENSG00000116544	ENSG00000116544				30368	30368	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611413	611413						8619474, 9110174	8619474, 9110174	Standard	Standard	NM_001080418	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	uc001byc.3	O95886	O95886	OTTHUMG00000004049	OTTHUMG00000004049	ENST00000373347.1:c.1294G>A	1.37:g.35365688C>T	ENSP00000362444:p.Val432Met		DLGAP3_ENST00000235180.4_Missense_Mutation_p.V432M	p.V432M			O95886	DLGP3_HUMAN			4	1562	-		Myeloproliferative disorder(586;0.0393)	432		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.1294G>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821795	0.32237	0.0	1.16E-4	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	D;D	0.89270	-2.49;-2.49	4.57	4.57	0.56435	4.57	4.57	0.56435	.	1.186950	0.06037	N	0.654190	D	0.83603	0.5290	N	0.24115	0.695	0.37404	D	0.912954	B	0.30851	0.297	B	0.19391	0.025	T	0.68704	-0.5338	10	0.29301	T	0.29	-10.5228	17.5202	0.87784	0.0:1.0:0.0:0.0	.	432	O95886	DLGP3_HUMAN	M	432;432;115	ENSP00000362444:V432M;ENSP00000235180:V432M	ENSP00000235180:V432M	V	-	1	0	0	DLGAP3	35138275	35138275	0.998000	0.40836	0.987000	0.45799	0.986000	0.74619	2.699000	0.47077	2.361000	0.80049	0.462000	0.41574	GTG		0.647	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1		26.066116	1	1	54	54	NM_021234		9	26.730275	26.730275	18	0.333333	0	0	0	1	0	9	18	0.333333	T	35365688	C	T	35365688	3	4	80	1	0	0	0	0	1	0	0	0	4561	536	19	1	1681	1	DLGAP3	1	35365688	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1275542	35365688	213884933	23	1538											
GRIK3	2899	broad.mit.edu	37	1	37307503	37307503	+	Missense_Mutation	SNP	G	G	A	rs376333303		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:37307503G>A	ENST00000373091.3	-	10	1380	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	GRIK3_ENST00000373093.4_Missense_Mutation_p.T455M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	455					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.T455M(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCCGTATAGCGTCCTGTCTGA	0.577																																						ENST00000373091.3											1	Substitution - Missense(1)	large_intestine(1)	breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1363-1365)aCg>aTg	glutamate receptor, ionotropic, kainate 3	G	MET/THR	0,4406		0,0,2203	171	157	162		1364	4.9	0.9	1		162	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRIK3	NM_000831.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	455/920	37307503	1,13005	2203	4300	6503	SO:0001583	missense	2899			negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37307503G>A	U16127	U16127	CCDS416.1	CCDS416.1	1p34.3	2012-08-29			2012-08-29			ENSG00000163873	ENSG00000163873	ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	4581	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138243	138243						8128318	8128318	Standard	Standard	NM_000831	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	uc001caz.2	Q13003	Q13003	OTTHUMG00000004189	OTTHUMG00000004189	ENST00000373091.3:c.1364C>T	1.37:g.37307503G>A	ENSP00000362183:p.Thr455Met		GRIK3_ENST00000373093.4_Missense_Mutation_p.T455M	p.T455M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			10	1380	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	455		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1364C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014316	0.35511	0.0	1.16E-4	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.77750	-1.12;-1.12	4.95	4.95	0.65309	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.060705	0.64402	D	0.000003	T	0.73729	0.3624	L	0.28054	0.825	0.36253	D	0.854055	P;P	0.40970	0.734;0.734	P;P	0.49665	0.618;0.492	T	0.76152	-0.3064	10	0.29301	T	0.29	.	12.9613	0.58460	0.0783:0.0:0.9217:0.0	.	455;455	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	455	ENSP00000362183:T455M;ENSP00000362185:T455M	ENSP00000362183:T455M	T	-	2	0	0	GRIK3	37080090	37080090	1.000000	0.71417	0.924000	0.36721	0.340000	0.28889	6.789000	0.75110	2.446000	0.82766	0.655000	0.94253	ACG		0.577	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1		135.626158	-7	-7	112	112	NM_000831		43	135.628586	135.628586	44	0.494253	0	0	0	1	0	43	44	0.494253	A	37307503	G	A	37307503	3	1	80	1	0	0	0	0	1	0	0	0	6775	1145	40	1	1423	1	GRIK3	1	37307503	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1941815	37307503	211943118	24	1539											
COL9A2	1298	broad.mit.edu	37	1	40776803	40776803	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:40776803G>A	ENST00000372748.3	-	12	688	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	198	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	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;2.08e-17)			AGAATCCCGCGTTTGCCCGCA	0.622																																						ENST00000372748.3											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(592-594)Cgc>Tgc	collagen, type IX, alpha 2						146	123	131					1																	40776803		2203	4300	6503	SO:0001583	missense	1298			axon guidance|skeletal system development	collagen type IX		g.chr1:40776803G>A	M95610	M95610	CCDS450.1	CCDS450.1	1p33-p32	2013-01-16			2013-01-16			ENSG00000049089	ENSG00000049089	ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	2218	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120260	120260		EDM2		EDM2		8454052, 8528240, 1429648	8454052, 8528240, 1429648	Standard	Standard	NM_001852	NM_001852		Approved	MED	uc001cfh.1	uc001cfh.1	Q14055	Q14055	OTTHUMG00000005761	OTTHUMG00000005761	ENST00000372748.3:c.592C>T	1.37:g.40776803G>A	ENSP00000361834:p.Arg198Cys			p.R198C	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		12	688	-	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)	198	Triple-helical region 3 (COL3).	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.592C>T	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.41|17.41	3.382468|3.382468	0.61845|0.61845	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748|ENST00000417105	D|.	0.94376|.	-3.41|.	5.63|5.63	3.71|3.71	0.42584|0.42584	5.63|5.63	3.71|3.71	0.42584|0.42584	.|.	0.409517|.	0.26196|.	N|.	0.025765|.	T|T	0.59183|0.59183	0.2175|0.2175	M|M	0.78801|0.78801	2.425|2.425	0.09310|0.09310	N|N	1|1	D|.	0.59357|.	0.985|.	P|.	0.51101|.	0.659|.	T|T	0.51092|0.51092	-0.8749|-0.8749	10|5	0.66056|.	D|.	0.02|.	.|.	11.4791|11.4791	0.50316|0.50316	0.0:0.0:0.6746:0.3254|0.0:0.0:0.6746:0.3254	.|.	198|.	Q14055|.	CO9A2_HUMAN|.	C|M	198|186	ENSP00000361834:R198C|.	ENSP00000361834:R198C|.	R|T	-|-	1|2	0|0	0|0	COL9A2|COL9A2	40549390|40549390	40549390|40549390	0.078000|0.078000	0.21339|0.21339	0.036000|0.036000	0.18154|0.18154	0.150000|0.150000	0.21749|0.21749	1.534000|1.534000	0.36051|0.36051	0.699000|0.699000	0.31761|0.31761	0.558000|0.558000	0.71614|0.71614	CGC|ACG		0.622	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3		23.090744	-11	-11	41	41	NM_001852		8	23.947601	23.947601	18	0.307692	0	0	0	1	0	8	18	0.307692	A	40776803	G	A	40776803	3	1	80	1	0	0	0	0	1	0	0	0	3708	1145	40	1	1561	1	COL9A2	1	40776803	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3469300	40776803	208473818	25	1540											
HIVEP3	59269	broad.mit.edu	37	1	42048953	42048953	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:42048953G>A	ENST00000372583.1	-	4	2401	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R506W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R506W|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R506W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	506	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGGCTCCCGGTAGAGGCTG	0.632																																						ENST00000372584.1											0			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1516-1518)Cgg>Tgg	human immunodeficiency virus type I enhancer binding protein 3						77	85	82					1																	42048953		2203	4300	6503	SO:0001583	missense	59269			positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048953G>A	AF278765	AF278765	CCDS463.1, CCDS44124.1	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124	ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	13561	13561	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"kappabinding protein-1"	"kappabinding protein-1"	606649	606649	"human immunodeficiency virus type I enhancer-binding protein 3"		"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	11161801	Standard	Standard	NR_038260	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	uc001cha.4	Q5T1R4	Q5T1R4	OTTHUMG00000006361	OTTHUMG00000006361	ENST00000372583.1:c.1516C>T	1.37:g.42048953G>A	ENSP00000361664:p.Arg506Trp		HIVEP3_ENST00000372583.1_Missense_Mutation_p.R506W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R506W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R506W	p.R506W	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2530	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	506	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1516C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953963	0.53293	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	4.82	3.9	0.45041	4.82	3.9	0.45041	.	0.000000	0.47093	D	0.000242	T	0.37652	0.1011	L	0.47716	1.5	0.37934	D	0.932111	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.37641	-0.9697	10	0.72032	D	0.01	-0.7334	12.4535	0.55691	0.0:0.0:0.6413:0.3587	.	506;506	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	506	ENSP00000361665:R506W;ENSP00000361664:R506W;ENSP00000247584:R506W;ENSP00000410828:R506W	ENSP00000247584:R506W	R	-	1	2	2	HIVEP3	41821540	41821540	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.030000	0.49720	1.246000	0.43901	0.561000	0.74099	CGG		0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1		66.633699	-18	-18	61	61	NM_024503		22	67.784457	67.784457	40	0.354839	0	0	0	1	0	22	40	0.354839	A	42048953	G	A	42048953	3	1	80	1	0	0	0	0	1	0	0	0	7188	1115	39	1	5728	1	HIVEP3	1	42048953	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1272150	42048953	207201668	26	1541											
SLC6A9	6536	broad.mit.edu	37	1	44463572	44463572	+	Silent	SNP	G	G	A	rs145370858		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:44463572G>A	ENST00000360584.2	-	13	2072	c.1881C>T	c.(1879-1881)taC>taT	p.Y627Y	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372310.3_Silent_p.Y554Y|SLC6A9_ENST00000357730.2_Silent_p.Y573Y|SLC6A9_ENST00000475075.2_Silent_p.Y443Y|SLC6A9_ENST00000372307.3_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	627					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGAACATGGCGTAGAGGGGGA	0.637																																						ENST00000372310.3											0			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(1660-1662)taC>taT	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	G	,,	1,4405	2.1+/-5.4	0,1,2202	112	111	111		1662,1719,1881	-5.3	0.9	1	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC6A9	NM_001024845.1,NM_006934.2,NM_201649.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	554/634,573/653,627/707	44463572	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6536				integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44463572G>A	S70609	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			2013-05-22			ENSG00000196517	ENSG00000196517	ENSG00000196517	ENSG00000196517		"Solute carriers"	"Solute carriers"	11056	11056	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601019	601019						8183239, 7587377	8183239, 7587377	Standard	Standard	NM_006934	NM_006934		Approved	GLYT1	uc001cll.4	uc001cll.4	P48067	P48067	OTTHUMG00000008294	OTTHUMG00000008294	ENST00000360584.2:c.1881C>T	1.37:g.44463572G>A			SLC6A9_ENST00000360584.2_Silent_p.Y627Y|SLC6A9_ENST00000475075.2_Silent_p.Y443Y|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.Y573Y	p.Y554Y	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			13	1827	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	627		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.1662C>T	CCDS41317.1																																																																																									0.637	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2		8.388036	-2	-2	44	44	NM_201649		4	10.062871	10.062871	16	0.2	0	0	0	1	0	4	16	0.2	A	44463572	G	A	44463572	2	1	80	1	0	0	0	0	0	0	0	1	14691	1140	40	1		1	SLC6A9	1	44463572	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2414619	44463572	204787049	27	1542											
DMBX1	127343	broad.mit.edu	37	1	46976849	46976849	+	Silent	SNP	G	G	A	rs147071342		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:46976849G>A	ENST00000360032.3	+	3	590	c.576G>A	c.(574-576)ccG>ccA	p.P192P	DMBX1_ENST00000371956.4_Silent_p.P197P	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGATCAGCCGGACCGTGAGG	0.677																																						ENST00000371956.4											0			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(589-591)ccG>ccA	diencephalon/mesencephalon homeobox 1	G	,	1,4403		0,1,2201	21	26	24		591,576	-9.7	0	1	dbSNP_134	24	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	DMBX1	NM_147192.2,NM_172225.1	,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	197/383,192/378	46976849	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	127343			brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976849G>A	AB037699	AB037699	CCDS536.1	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587	ENSG00000197587	ENSG00000197587		"Homeoboxes / PRD class"	"Homeoboxes / PRD class"	19026	19026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607410	607410	"orthodenticle homolog 3 (Drosophila)"	OTX3	"orthodenticle homolog 3 (Drosophila)"	OTX3				Standard	Standard	NM_147192	NM_147192		Approved	PAXB	uc001cpx.3	uc001cpx.3	Q8NFW5	Q8NFW5	OTTHUMG00000007982	OTTHUMG00000007982	ENST00000360032.3:c.576G>A	1.37:g.46976849G>A			DMBX1_ENST00000360032.3_Silent_p.P192P	p.P197P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			3	606	+	Acute lymphoblastic leukemia(166;0.155)		197			Silent	SNP	ENST00000360032.3	37	c.591G>A	CCDS536.1																																																																																									0.677	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1		11.796896	-6	-6	22	22			4	12.091656	12.091656	8	0.333333	0	0	0	1	0	4	8	0.333333	A	46976849	G	A	46976849	2	1	80	1	0	0	0	0	0	0	0	1	4578	1103	39	1		1	DMBX1	1	46976849	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2513277	46976849	202273772	28	1543											
LRP8	7804	broad.mit.edu	37	1	53742398	53742398	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:53742398G>A	ENST00000306052.6	-	5	950	c.849C>T	c.(847-849)cgC>cgT	p.R283R	LRP8_ENST00000371454.2_Silent_p.R283R|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_Intron	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	283	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTTTGCAGTCGCGGTCGCCGT	0.731																																						ENST00000306052.6											0			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(847-849)cgC>cgT	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor						8	5	6					1																	53742398		1817	3584	5401	SO:0001819	synonymous_variant	7804			cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53742398G>A	D50678	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			2013-05-29			ENSG00000157193	ENSG00000157193	ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	"Low density lipoprotein receptors"	6700	6700	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602600	602600						8626535, 9079678	8626535, 9079678	Standard	Standard	NM_004631	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	uc001cvi.2	Q14114	Q14114	OTTHUMG00000008924	OTTHUMG00000008924	ENST00000306052.6:c.849C>T	1.37:g.53742398G>A			LRP8_ENST00000354412.3_Intron|LRP8_ENST00000371454.2_Silent_p.R283R|LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_Intron	p.R283R	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			5	950	-			283	LDL-receptor class A 6.	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.849C>T	CCDS578.1																																																																																									0.731	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1		7.676970	4	4	9	9	NM_004631		2	7.453751	7.453751	0	1	0	0	0	1	0	2	0	1	A	53742398	G	A	53742398	2	1	80	1	0	0	0	0	0	0	0	1	8963	1074	38	1		1	LRP8	1	53742398	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6765549	53742398	195508223	29	1544											
CDCP2	200008	broad.mit.edu	37	1	54610386	54610386	+	Silent	SNP	G	G	A	rs150004831		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:54610386G>A	ENST00000371330.1	-	2	1027	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-446E24.4_ENST00000525949.1_5'UTR|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	60	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CGGCCACCACGATCAGCCAGC	0.557																																						ENST00000371330.1											0			kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(178-180)atC>atT	CUB domain containing protein 2	G		1,4405	2.1+/-5.4	0,1,2202	95	78	84		180	-2.2	1	1	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous	CDCP2	NM_201546.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		60/450	54610386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200008				extracellular region		g.chr1:54610386G>A			CCDS588.2	CCDS588.2	1p32.3	2011-02-10			2011-02-10			ENSG00000157211	ENSG00000157211	ENSG00000157211	ENSG00000157211				27297	27297	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612320	612320						12477932	12477932	Standard	Standard	NM_201546	NM_201546		Approved		uc001cwv.2	uc001cwv.2	Q5VXM1	Q5VXM1	OTTHUMG00000155307	OTTHUMG00000155307	ENST00000371330.1:c.180C>T	1.37:g.54610386G>A			RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR	p.I60I	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			2	1027	-			60	CUB 1.	Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.180C>T	CCDS588.2																																																																																									0.557	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2		31.050285	-1	-1	29	29	NM_201546		10	31.061722	31.061722	9	0.526316	0	0	0	1	0	10	9	0.526316	A	54610386	G	A	54610386	2	1	80	1	0	0	0	0	0	0	0	1	3094	1048	37	1		1	CDCP2	1	54610386	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	867988	54610386	194640235	30	1545											
CACHD1	57685	broad.mit.edu	37	1	65141094	65141094	+	Missense_Mutation	SNP	C	C	T	rs182391558		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:65141094C>T	ENST00000371073.2	+	20	2738	c.2738C>T	c.(2737-2739)aCg>aTg	p.T913M	CACHD1_ENST00000290039.5_Missense_Mutation_p.T862M|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	913					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGGATTTGACGAACCTTGTG	0.463											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0.0014	5008	,	,		17058	0		0	False		,,,				2504	0					ENST00000371073.2											0			breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2737-2739)aCg>aTg	cache domain containing 1						134	123	127					1																	65141094		2203	4300	6503	SO:0001583	missense	57685			calcium ion transport	integral to membrane		g.chr1:65141094C>T	AB046793	AB046793	CCDS628.2	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966	ENSG00000158966	ENSG00000158966				29314	29314	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"von Willebrand factor type A and cache domain containing 1"	VWCD1	"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	10997877	Standard	Standard	NM_020925	NM_020925		Approved	KIAA1573	uc001dbo.1	uc001dbo.1	Q5VU97	Q5VU97	OTTHUMG00000009030	OTTHUMG00000009030	ENST00000371073.2:c.2738C>T	1.37:g.65141094C>T	ENSP00000360113:p.Thr913Met	1081	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.T862M	p.T913M			Q5VU97	CAHD1_HUMAN			20	2738	+			913		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2738C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	20.7	4.031369	0.75504	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.27720	1.65;1.66	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.132555	0.64402	D	0.000002	T	0.25121	0.0610	M	0.67397	2.05	0.80722	D	1	P	0.51240	0.943	B	0.37304	0.246	T	0.26780	-1.0093	10	0.72032	D	0.01	-20.5642	20.1634	0.98142	0.0:1.0:0.0:0.0	.	913	Q5VU97	CAHD1_HUMAN	M	913;862	ENSP00000360113:T913M;ENSP00000290039:T862M	ENSP00000290039:T862M	T	+	2	0	0	CACHD1	64913682	64913682	1.000000	0.71417	0.984000	0.44739	0.798000	0.45092	7.304000	0.78882	2.773000	0.95371	0.655000	0.94253	ACG		0.463	CACHD1-201	KNOWN	basic	protein_coding	protein_coding			14.896492	8	8	90	90	NM_020925		10	25.162122	25.162122	67	0.12987	0	0	0	1	0	10	67	0.12987	T	65141094	C	T	65141094	3	4	80	1	0	0	0	0	1	0	0	0	2537	536	19	1	2663	1	CACHD1	1	65141094	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10530708	65141094	184109527	31	1546											
CLCA1	1179	broad.mit.edu	37	1	86959980	86959980	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:86959980G>A	ENST00000234701.3	+	12	2142	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	CLCA1_ENST00000394711.1_Silent_p.T597T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	597					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTTCCAAAACGAACAAGGACA	0.517																																						ENST00000234701.3											0			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1789-1791)acG>acA	chloride channel accessory 1						101	88	92					1																	86959980		2203	4300	6503	SO:0001819	synonymous_variant	1179			calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86959980G>A			CCDS709.1	CCDS709.1	1p22.3	2012-02-26	2009-01-29		2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490	ENSG00000016490	ENSG00000016490				2015	2015	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603906	603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"		"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	9828122	Standard	Standard	NM_001285	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	uc001dlt.3	A8K7I4	A8K7I4	OTTHUMG00000010254	OTTHUMG00000010254	ENST00000234701.3:c.1791G>A	1.37:g.86959980G>A			CLCA1_ENST00000394711.1_Silent_p.T597T	p.T597T			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	12	2142	+		Lung NSC(277;0.239)	597		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.1791G>A	CCDS709.1																																																																																									0.517	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1		56.346517	-1	-1	44	44	NM_001285		18	56.396704	56.396704	21	0.461538	0	0	0	1	0	18	21	0.461538	A	86959980	G	A	86959980	2	1	80	1	0	0	0	0	0	0	0	1	3457	1045	37	1		1	CLCA1	1	86959980	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	21818886	86959980	162290641	32	1547											
SYPL2	284612	broad.mit.edu	37	1	110022032	110022032	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:110022032C>T	ENST00000369872.3	+	6	897	c.681C>T	c.(679-681)gcC>gcT	p.A227A	SYPL2_ENST00000401021.3_Silent_p.A163A	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	227	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)	p.A227A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCCTGTGGGCCGGGAACTGTT	0.582																																						ENST00000369872.3											1	Substitution - coding silent(1)	lung(1)	breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16						c.(679-681)gcC>gcT	synaptophysin-like 2						141	145	144					1																	110022032		1911	4147	6058	SO:0001819	synonymous_variant	284612				integral to membrane|synaptic vesicle	transporter activity	g.chr1:110022032C>T	AK131459	AK131459	CCDS41365.1	CCDS41365.1	1p13.3	2008-02-05			2008-02-05			ENSG00000143028	ENSG00000143028	ENSG00000143028	ENSG00000143028				27638	27638	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"mitsugumin-29"	"mitsugumin-29"								12975309	12975309	Standard	Standard	NM_001040709	NM_001040709		Approved	Mg29	uc001dxp.3	uc001dxp.3	Q5VXT5	Q5VXT5	OTTHUMG00000010969	OTTHUMG00000010969	ENST00000369872.3:c.681C>T	1.37:g.110022032C>T			SYPL2_ENST00000401021.3_Silent_p.A163A	p.A227A	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)	6	897	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	227	MARVEL.	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Silent	SNP	ENST00000369872.3	37	c.681C>T	CCDS41365.1																																																																																									0.582	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1		-11.474393	-9	-9	117	117	NM_001006603		4	8.227092	8.227092	85	0.044944	0	0	0	1	0	4	85	0.044944	T	110022032	C	T	110022032	2	4	80	1	0	0	0	0	0	0	0	1	15460	639	23	1		1	SYPL2	1	110022032	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	23062052	110022032	139228589	33	1548											
NOTCH2	4853	broad.mit.edu	37	1	120506201	120506201	+	Silent	SNP	C	C	T	rs369028361		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:120506201C>T	ENST00000256646.2	-	11	2130	c.1911G>A	c.(1909-1911)acG>acA	p.T637T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	637	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.T637T(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTACCTGACGTGCCTGGCT	0.483			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													ENST00000256646.2		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - coding silent(1)	large_intestine(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1909-1911)acG>acA	notch 2	C	,	0,4406		0,0,2203	204	177	186		1911,1911	-11.1	0	1		186	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NOTCH2	NM_001200001.1,NM_024408.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	637/1236,637/2472	120506201	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120506201C>T	AF315356	AF315356	CCDS908.1	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250	ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	7882	7882	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600275	600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"		"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	7698746	Standard	Standard	NM_001200001	NM_001200001		Approved		uc001eik.3	uc001eik.3	Q04721	Q04721	OTTHUMG00000012177	OTTHUMG00000012177	ENST00000256646.2:c.1911G>A	1.37:g.120506201C>T				p.T637T	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2130	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	637	EGF-like 16; calcium-binding (Potential).	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.1911G>A	CCDS908.1																																																																																									0.483	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		-9.011320	-34	-34	192	192	NM_024408		9	19.955321	19.955321	136	0.062069	0	0	0	1	0	9	136	0.062069	T	120506201	C	T	120506201	2	4	80	1	0	0	0	0	0	0	0	1	10548	523	19	1		1	NOTCH2	1	120506201	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10484169	120506201	128744420	34	1549											
VPS72	6944	broad.mit.edu	37	1	151149201	151149201	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:151149201G>A	ENST00000354473.4	-	6	1083	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'Flank|TMOD4_ENST00000416280.2_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	338	Poly-Pro.|Pro-rich.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGGCCCAGGGCTGAGGCAG	0.572																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4											0			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1045-1047)gcC>gcT	vacuolar protein sorting 72 homolog (S. cerevisiae)						76	83	81					1																	151149201		2203	4300	6503	SO:0001819	synonymous_variant	6944			chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151149201G>A	D43642	D43642	CCDS989.1, CCDS59201.1	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159	ENSG00000163159	ENSG00000163159				11644	11644	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600607	600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	7702631	Standard	Standard	NM_001271087	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	uc001exe.2	Q15906	Q15906	OTTHUMG00000012345	OTTHUMG00000012345	ENST00000354473.4:c.1047C>T	1.37:g.151149201G>A				p.A349A			Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	1083	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		338	Poly-Pro.|Pro-rich.	A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	ENST00000354473.4	37	c.1047C>T	CCDS59201.1																																																																																									0.572	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3		-6.423066	14	14	112	112	NM_005997		3	6.461739	6.461739	57	0.05	0	0	0	1	0	3	57	0.05	A	151149201	G	A	151149201	2	1	80	1	0	0	0	0	0	0	0	1	17214	1219	43	3		3	VPS72	1	151149201	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	30643000	151149201	98101420	35	1550											
TCHH	7062	broad.mit.edu	37	1	152081633	152081633	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:152081633G>A	ENST00000368804.1	-	2	4059	c.4060C>T	c.(4060-4062)Cgc>Tgc	p.R1354C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1354	23 X 26 AA approximate tandem repeats.			R -> L (in Ref. 1; AAA65582). {ECO:0000305}.	keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGCGGCGCAGCGGCTGT	0.572																																						ENST00000368804.1											0			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4060-4062)Cgc>Tgc	trichohyalin						138	144	142					1																	152081633		1890	4107	5997	SO:0001583	missense	7062			keratinization	cytoskeleton	calcium ion binding	g.chr1:152081633G>A	L09190	L09190	CCDS41396.1	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	"EF-hand domain containing"	11791	11791	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			190370	190370		THH		THH		1431214	1431214	Standard	Standard	NM_007113	NM_007113		Approved		uc001ezp.3	uc001ezp.3	Q07283	Q07283	OTTHUMG00000013066	OTTHUMG00000013066	ENST00000368804.1:c.4060C>T	1.37:g.152081633G>A	ENSP00000357794:p.Arg1354Cys			p.R1354C	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4059	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1354	23 X 26 AA approximate tandem repeats.	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4060C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	6.776	0.512198	0.12944	.	.	ENSG00000159450	ENST00000368804	T	0.07327	3.2	3.89	0.815	0.18763	3.89	0.815	0.18763	.	.	.	.	.	T	0.01905	0.0060	L	0.46157	1.445	0.09310	N	1	P	0.34587	0.458	B	0.19391	0.025	T	0.42716	-0.9435	9	0.54805	T	0.06	-0.0532	5.1338	0.14924	0.2864:0.0:0.5642:0.1494	.	1354	Q07283	TRHY_HUMAN	C	1354	ENSP00000357794:R1354C	ENSP00000357794:R1354C	R	-	1	0	0	TCHH	150348257	150348257	0.005000	0.15991	0.001000	0.08648	0.067000	0.16453	0.756000	0.26419	-0.124000	0.11724	-1.135000	0.01939	CGC		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		9.409212	-61	-61	210	210	NM_007113		18	40.494369	40.494369	171	0.095238	0	0	0	1	0	18	171	0.095238	A	152081633	G	A	152081633	3	1	80	1	0	0	0	0	1	0	0	0	15697	1087	38	1	1775	1	TCHH	1	152081633	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	932432	152081633	97168988	36	1551											
HRNR	388697	broad.mit.edu	37	1	152187596	152187596	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:152187596G>A	ENST00000368801.2	-	3	6584	c.6509C>T	c.(6508-6510)tCg>tTg	p.S2170L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2170					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTGGCCCGAAGACTGACG	0.627																																						ENST00000368801.2											0			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6508-6510)tCg>tTg	hornerin						122	154	143					1																	152187596		2196	4279	6475	SO:0001583	missense	388697			keratinization		calcium ion binding|protein binding	g.chr1:152187596G>A	AB104446	AB104446	CCDS30859.1	CCDS30859.1	1q21.3	2013-01-10			2013-01-10			ENSG00000197915	ENSG00000197915	ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	"EF-hand domain containing"	20846	20846	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"filaggrin family member 3"	"filaggrin family member 3"										Standard	Standard	NM_001009931	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	uc001ezt.2	Q86YZ3	Q86YZ3	OTTHUMG00000012243	OTTHUMG00000012243	ENST00000368801.2:c.6509C>T	1.37:g.152187596G>A	ENSP00000357791:p.Ser2170Leu		FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2170L	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6584	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2170		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6509C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	11.36	1.615170	0.28712	.	.	ENSG00000197915	ENST00000368801	T	0.05855	3.38	3.22	3.22	0.36961	3.22	3.22	0.36961	.	.	.	.	.	T	0.07548	0.0190	L	0.55481	1.735	0.09310	N	1	D	0.76494	0.999	P	0.56612	0.802	T	0.12837	-1.0532	9	0.48119	T	0.1	.	12.3341	0.55056	0.0:0.0:1.0:0.0	.	2170	Q86YZ3	HORN_HUMAN	L	2170	ENSP00000357791:S2170L	ENSP00000357791:S2170L	S	-	2	0	0	HRNR	150454220	150454220	0.050000	0.20438	0.005000	0.12908	0.031000	0.12232	1.313000	0.33585	1.810000	0.52873	0.650000	0.86243	TCG		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		-161.497204	388	388	1091	1091	XM_373868		22	38.959947	38.959947	790	0.027094	0	0	0	1	0	22	790	0.027094	A	152187596	G	A	152187596	3	1	80	1	0	0	0	0	1	0	0	0	7359	1059	37	1	2047	1	HRNR	1	152187596	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	105963	152187596	97063025	37	1552											
EFNA4	1945	broad.mit.edu	37	1	155041446	155041446	+	Missense_Mutation	SNP	G	G	A	rs200331554		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:155041446G>A	ENST00000368409.3	+	4	680	c.587G>A	c.(586-588)cGt>cAt	p.R196H	EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000427683.2_Intron|EFNA4_ENST00000359751.4_Intron|EFNA3_ENST00000505139.1_Intron	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4	196					axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTGATTCTTCGTCTTCTGCGA	0.597																																						ENST00000368409.3											0			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4						c.(586-588)cGt>cAt	ephrin-A4						122	123	123					1																	155041446		2203	4300	6503	SO:0001583	missense	1945						g.chr1:155041446G>A	AJ006352	AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			2011-03-09			ENSG00000243364	ENSG00000243364	ENSG00000243364	ENSG00000243364		"Ephrins"	"Ephrins"	3224	3224	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601380	601380		EPLG4		EPLG4		8660976	8660976	Standard	Standard	NM_182690	NM_182690		Approved	LERK4			P52798	P52798	OTTHUMG00000035309	OTTHUMG00000035309	ENST00000368409.3:c.587G>A	1.37:g.155041446G>A	ENSP00000357394:p.Arg196His		EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000359751.4_Intron|EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000427683.2_Intron	p.R196H	NM_005227.2	NP_005218.1			BRCA - Breast invasive adenocarcinoma(34;0.000434)		4	680	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)				C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Missense_Mutation	SNP	ENST00000368409.3	37	c.587G>A	CCDS1089.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449242	0.43531	.	.	ENSG00000243364	ENST00000368409	D	0.94138	-3.36	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.205916	0.22529	N	0.058864	D	0.91915	0.7440	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.92464	0.5980	10	0.49607	T	0.09	.	13.896	0.63773	0.0:0.0:1.0:0.0	.	196	P52798	EFNA4_HUMAN	H	196	ENSP00000357394:R196H	ENSP00000357394:R196H	R	+	2	0	0	EFNA4	153308070	153308070	0.989000	0.36119	0.998000	0.56505	0.917000	0.54804	4.168000	0.58216	2.665000	0.90641	0.655000	0.94253	CGT		0.597	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085421.2		28.103651	15	15	85	85	NM_005227		11	30.603647	30.603647	33	0.25	0	0	0	1	0	11	33	0.25	A	155041446	G	A	155041446	3	1	80	1	0	0	0	0	1	0	0	0	4953	1145	40	1	601	1	EFNA4	1	155041446	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2853850	155041446	94209175	38	1553											
THBS3	7059	broad.mit.edu	37	1	155167889	155167889	+	Missense_Mutation	SNP	C	C	T	rs373078740		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:155167889C>T	ENST00000368378.3	-	18	2217	c.2197G>A	c.(2197-2199)Gtc>Atc	p.V733I	RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.V130I|THBS3_ENST00000541990.1_Missense_Mutation_p.V262I|THBS3_ENST00000486260.1_5'Flank|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.V613I|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	733	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGATCCAGGACGACGGTCTGA	0.552																																						ENST00000368378.3											0			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2197-2199)Gtc>Atc	thrombospondin 3						134	111	118					1																	155167889		2203	4300	6503	SO:0001583	missense	7059			cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155167889C>T	L38969	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			2008-02-05			ENSG00000169231	ENSG00000169231	ENSG00000169231	ENSG00000169231				11787	11787	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188062	188062						1601886	1601886	Standard	Standard	NM_007112	NM_007112		Approved		uc001fix.3	uc001fix.3	P49746	P49746	OTTHUMG00000035710	OTTHUMG00000035710	ENST00000368378.3:c.2197G>A	1.37:g.155167889C>T	ENSP00000357362:p.Val733Ile		RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.V613I|THBS3_ENST00000541990.1_Missense_Mutation_p.V262I|THBS3_ENST00000541576.1_Missense_Mutation_p.V130I	p.V733I	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		18	2217	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		733	TSP C-terminal.	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2197G>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576926	0.28092	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.08	4.15	0.48705	5.08	4.15	0.48705	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1);	0.142736	0.46758	N	0.000269	T	0.70159	0.3192	N	0.17674	0.51	0.80722	D	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.67309	-0.5703	10	0.30854	T	0.27	-15.494	6.9756	0.24672	0.0:0.797:0.0:0.203	.	613;733;733;733	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	I	733;130;613;262	ENSP00000357362:V733I;ENSP00000444792:V130I;ENSP00000392207:V613I;ENSP00000437353:V262I	ENSP00000357362:V733I	V	-	1	0	0	THBS3	153434513	153434513	0.439000	0.25610	0.806000	0.32338	0.998000	0.95712	0.916000	0.28651	1.340000	0.45581	0.563000	0.77884	GTC		0.552	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1		6.981658	-7	-7	50	50	NM_007112		4	10.190752	10.190752	23	0.148148	0	0	0	1	0	4	23	0.148148	T	155167889	C	T	155167889	3	4	80	1	0	0	0	0	1	0	0	0	15852	536	19	1	697	1	THBS3	1	155167889	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	126443	155167889	94082732	39	1554											
SYT11	23208	broad.mit.edu	37	1	155838012	155838012	+	Silent	SNP	C	C	T	rs73002934	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:155838012C>T	ENST00000368324.4	+	2	544	c.291C>T	c.(289-291)gaC>gaT	p.D97D	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	97					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TGTTGGTGGACGCAGCAGAGG	0.517													C|||	8	0.00159744	0.0053	0	5008	,	,		19087	0		0.001	False		,,,				2504	0					ENST00000368324.4											0			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(289-291)gaC>gaT	synaptotagmin XI	C		26,4380	34.3+/-65.2	0,26,2177	114	107	109		291	-11.3	0	1	dbSNP_130	109	0,8600		0,0,4300	no	coding-synonymous	SYT11	NM_152280.4		0,26,6477	TT,TC,CC		0.0,0.5901,0.1999		97/432	155838012	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	23208				cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838012C>T	D38522	D38522	CCDS1122.1	CCDS1122.1	1q22	2013-01-21			2013-01-21			ENSG00000132718	ENSG00000132718	ENSG00000132718	ENSG00000132718		"Synaptotagmins"	"Synaptotagmins"	19239	19239	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608741	608741						11543631	11543631	Standard	Standard	NM_152280	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	uc001fmg.3	Q9BT88	Q9BT88	OTTHUMG00000014105	OTTHUMG00000014105	ENST00000368324.4:c.291C>T	1.37:g.155838012C>T			SYT11_ENST00000539162.1_Intron	p.D97D	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	544	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		97		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.291C>T	CCDS1122.1																																																																																									0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1		83.619337	-14	-14	75	75	NM_152280		27	83.749749	83.749749	33	0.45	0	0	0	1	0	27	33	0.45	T	155838012	C	T	155838012	2	4	80	1	0	0	0	0	0	0	0	1	15464	535	19	1		1	SYT11	1	155838012	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	670123	155838012	93412609	40	1555											
C1orf66	51093	broad.mit.edu	37	1	156703898	156703898	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:156703898C>T	ENST00000368216.4	+	6	1364	c.734C>T	c.(733-735)cCg>cTg	p.P245L	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	245						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGGAGAACCCGTGTCAGGGC	0.622																																						ENST00000368216.4											0			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(733-735)cCg>cTg	ribosomal RNA adenine dimethylase domain containing 1						71	71	71					1																	156703898		2203	4300	6503	SO:0001583	missense	51093				integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156703898C>T	BC011382	BC011382	CCDS1154.1, CCDS44246.1	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303	ENSG00000143303	ENSG00000143303				24273	24273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 1 open reading frame 66"	C1orf66	"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	10810093, 310876	Standard	Standard	NM_015997	NM_015997		Approved	CGI-41	uc001fpu.3	uc001fpu.3	Q96FB5	Q96FB5	OTTHUMG00000041302	OTTHUMG00000041302	ENST00000368216.4:c.734C>T	1.37:g.156703898C>T	ENSP00000357199:p.Pro245Leu		RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	p.P245L	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			6	1364	+			245		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.734C>T	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	C	4.524	0.097211	0.08681	.	.	ENSG00000143303	ENST00000368216;ENST00000519086	T	0.45276	0.9	4.76	4.76	0.60689	4.76	4.76	0.60689	.	1.221540	0.05517	N	0.561443	T	0.09862	0.0242	N	0.02973	-0.45	0.27299	N	0.957646	B	0.02656	0.0	B	0.06405	0.002	T	0.16217	-1.0410	10	0.23891	T	0.37	-2.1015	13.1218	0.59331	0.0:1.0:0.0:0.0	.	245	Q96FB5	RRNAD_HUMAN	L	245;224	ENSP00000357199:P245L	ENSP00000357199:P245L	P	+	2	0	0	RRNAD1	154970522	154970522	0.000000	0.05858	0.005000	0.12908	0.241000	0.25554	0.750000	0.26334	2.494000	0.84150	0.561000	0.74099	CCG		0.622	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1		49.693684	-2	-2	53	53	NM_015997		16	49.967837	49.967837	23	0.410256	0	0	0	1	0	16	23	0.410256	T	156703898	C	T	156703898	3	4	80	1	0	0	0	0	1	0	0	0	2056	652	23	1	756	1	C1orf66	1	156703898	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	865886	156703898	92546723	41	1556											
ARHGEF11	9826	broad.mit.edu	37	1	156907251	156907251	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:156907251C>T	ENST00000361409.2	-	38	4852	c.4110G>A	c.(4108-4110)ccG>ccA	p.P1370P	ARHGEF11_ENST00000315174.8_Silent_p.P786P|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000368194.3_Silent_p.P1410P|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1370					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCTTGAGTCCGGGGGTCCTG	0.592																																						ENST00000368194.3											0			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(4228-4230)ccG>ccA	Rho guanine nucleotide exchange factor (GEF) 11						70	66	67					1																	156907251		2203	4300	6503	SO:0001819	synonymous_variant	9826			actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156907251C>T	AB002378	AB002378	CCDS1162.1, CCDS1163.1	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			2011-11-16			ENSG00000132694	ENSG00000132694	ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	"Rho guanine nucleotide exchange factors"	14580	14580	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605708	605708						10526156, 9205841	10526156, 9205841	Standard	Standard	NM_014784	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	uc001fqn.3	O15085	O15085	OTTHUMG00000041292	OTTHUMG00000041292	ENST00000361409.2:c.4110G>A	1.37:g.156907251C>T			ARHGEF11_ENST00000315174.8_Silent_p.P786P|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Silent_p.P1370P	p.P1410P	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			39	5269	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1370		D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.4230G>A	CCDS1162.1																																																																																									0.592	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1		2.803857	-2	-2	73	73	NM_198236		3	7.343873	7.343873	26	0.103448	0	0	0	1	0	3	26	0.103448	T	156907251	C	T	156907251	2	4	80	1	0	0	0	0	0	0	0	1	896	639	23	1		1	ARHGEF11	1	156907251	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	203353	156907251	92343370	42	1557											
KIRREL	55243	broad.mit.edu	37	1	158047863	158047863	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:158047863C>T	ENST00000359209.6	+	3	352	c.285C>T	c.(283-285)gaC>gaT	p.D95D	KIRREL_ENST00000392272.2_Silent_p.D95D|KIRREL_ENST00000368173.3_Silent_p.D95D|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Silent_p.D34D			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	95	Ig-like C2-type 1.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TCTCTGACGACGCCTCTTACG	0.612																																						ENST00000368173.3											0			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(283-285)gaC>gaT	kin of IRRE like (Drosophila)						126	114	118					1																	158047863		2203	4300	6503	SO:0001819	synonymous_variant	55243				integral to membrane		g.chr1:158047863C>T	AK001707	AK001707	CCDS1172.2, CCDS72952.1	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			2013-01-29			ENSG00000183853	ENSG00000183853	ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	15734	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nephrin-like protein 1"	"nephrin-like protein 1"	607428	607428						12424224	12424224	Standard	Standard	NM_001286349	NM_001286349		Approved	NEPH1	uc001frn.4	uc001frn.4	Q96J84	Q96J84	OTTHUMG00000022438	OTTHUMG00000022438	ENST00000359209.6:c.285C>T	1.37:g.158047863C>T			KIRREL_ENST00000392272.2_Silent_p.D95D|KIRREL_ENST00000359209.6_Silent_p.D95D|KIRREL_ENST00000360089.4_Silent_p.D34D|KIRREL_ENST00000416935.2_Intron	p.D95D	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN			3	689	+	all_hematologic(112;0.0378)		95	Ig-like C2-type 1.	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.285C>T	CCDS1172.2																																																																																									0.612	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3		144.649573	-1	-1	110	110	NM_018240		46	144.651868	144.651868	47	0.494624	0	0	0	1	0	46	47	0.494624	T	158047863	C	T	158047863	2	4	80	1	0	0	0	0	0	0	0	1	8324	535	19	1		1	KIRREL	1	158047863	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1140612	158047863	91202758	43	1558											
ATP1A2	477	broad.mit.edu	37	1	160105664	160105664	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:160105664G>A	ENST00000361216.3	+	17	2409	c.2320G>A	c.(2320-2322)Gcc>Acc	p.A774T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A774T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	774					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GAAATCCATCGCCTACACCCT	0.567																																						ENST00000361216.3											0			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2320-2322)Gcc>Acc	ATPase, Na+/K+ transporting, alpha 2 polypeptide						168	144	152					1																	160105664		2203	4300	6503	SO:0001583	missense	477			ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160105664G>A	AB018321	AB018321	CCDS1196.1	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	"ATPases / P-type"	800	800	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	9403481	Standard	Standard	NM_000702	NM_000702		Approved	FHM2	uc001fvc.3	uc001fvc.3	P50993	P50993	OTTHUMG00000024080	OTTHUMG00000024080	ENST00000361216.3:c.2320G>A	1.37:g.160105664G>A	ENSP00000354490:p.Ala774Thr		ATP1A2_ENST00000392233.3_Missense_Mutation_p.A774T	p.A774T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		17	2409	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		774		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2320G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324867	0.81580	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.88664	-2.41;-2.41	4.35	4.35	0.52113	4.35	4.35	0.52113	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	L	0.31752	0.955	0.80722	D	1	P;B	0.40032	0.699;0.346	B;B	0.36244	0.22;0.07	T	0.82566	-0.0393	10	0.56958	D	0.05	.	16.155	0.81657	0.0:0.0:1.0:0.0	.	674;774	F5GXJ7;P50993	.;AT1A2_HUMAN	T	774;774;477	ENSP00000354490:A774T;ENSP00000376066:A774T	ENSP00000354490:A774T	A	+	1	0	0	ATP1A2	158372288	158372288	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.601000	0.98297	2.401000	0.81631	0.555000	0.69702	GCC		0.567	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2		52.442010	-36	-36	151	151	NM_000702		21	55.706856	55.706856	54	0.28	0	0	0	1	0	21	54	0.28	A	160105664	G	A	160105664	3	1	80	1	0	0	0	0	1	0	0	0	1129	1087	38	1	2386	1	ATP1A2	1	160105664	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2057801	160105664	89144957	44	1559											
NOS1AP	9722	broad.mit.edu	37	1	162336952	162336952	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:162336952G>A	ENST00000361897.5	+	10	1618	c.1216G>A	c.(1216-1218)Gcg>Acg	p.A406T	NOS1AP_ENST00000493151.1_Missense_Mutation_p.A111T|NOS1AP_ENST00000530878.1_Missense_Mutation_p.A401T|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.A92T	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	406					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCCGCTGGGCGCGGGCTTGGC	0.662																																						ENST00000493151.1											0			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(331-333)Gcg>Acg	nitric oxide synthase 1 (neuronal) adaptor protein						64	74	70					1																	162336952		2203	4300	6503	SO:0001583	missense	9722			regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162336952G>A	AB007933		CCDS1237.1, CCDS44267.1, CCDS53421.1		1q23.3	2010-08-20						ENSG00000198929	ENSG00000198929						16859		protein-coding gene	gene with protein product			"C-terminal PDZ domain ligand of neuronal nitric oxide synthase"		605551							9455484, 9459447		Standard		NM_001126060			Approved	KIAA0464, CAPON	uc001gbv.2		O75052		OTTHUMG00000024049		ENST00000361897.5:c.1216G>A	1.37:g.162336952G>A	ENSP00000355133:p.Ala406Thr		NOS1AP_ENST00000530878.1_Missense_Mutation_p.A401T|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.A92T|NOS1AP_ENST00000361897.5_Missense_Mutation_p.A406T	p.A111T	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		2	2698	+	all_hematologic(112;0.203)		406	PID.	B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.331G>A	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319171	0.41096	.	.	ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000254706	ENST00000530878;ENST00000361897;ENST00000464284;ENST00000493151;ENST00000431696	T;T	0.77098	-1.07;-1.07	4.96	1.56	0.23342	4.96	1.56	0.23342	.	0.285831	0.38959	N	0.001520	T	0.31263	0.0791	N	0.14661	0.345	.	.	.	B;B;B	0.23249	0.007;0.082;0.05	B;B;B	0.14023	0.002;0.01;0.01	T	0.02852	-1.1102	9	0.19590	T	0.45	.	2.9688	0.05916	0.1037:0.2697:0.4768:0.1498	.	111;401;406	Q3T551;B7ZLF5;O75052	.;.;CAPON_HUMAN	T	401;406;62;111;92	ENSP00000431586:A401T;ENSP00000355133:A406T	ENSP00000355133:A406T	A	+	1	0	0	NOS1AP;RP11-565P22.6	160603576	160603576	0.425000	0.25498	0.999000	0.59377	0.997000	0.91878	1.432000	0.34936	0.553000	0.29044	0.655000	0.94253	GCG		0.662	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2		86.714231	-10	-10	102	102	NM_014697		30	87.374892	87.374892	45	0.4	0	0	0	1	0	30	45	0.4	A	162336952	G	A	162336952	3	1	80	1	0	0	0	0	1	0	0	0	10542	1087	38	1	1308	1	NOS1AP	1	162336952	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2231288	162336952	86913669	45	1560											
RXRG	6258	broad.mit.edu	37	1	165378811	165378811	+	Missense_Mutation	SNP	C	C	T	rs568135949		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:165378811C>T	ENST00000359842.5	-	7	1332	c.1030G>A	c.(1030-1032)Ggc>Agc	p.G344S	RXRG_ENST00000470566.1_5'Flank	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	344	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	AAGATGGAGCCGACCCCAGCA	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		19197	0		0	False		,,,				2504	0					ENST00000359842.5											0			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(1030-1032)Ggc>Agc	retinoid X receptor, gamma						88	72	78					1																	165378811		2203	4300	6503	SO:0001583	missense	6258			regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165378811C>T	U38480	U38480	CCDS1248.1, CCDS72970.1	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			2013-01-16			ENSG00000143171	ENSG00000143171	ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	"Nuclear hormone receptors"	10479	10479	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	"nuclear receptor subfamily 2 group B member 3"	180247	180247						8034312	8034312	Standard	Standard	NR_033824	NR_033824		Approved	NR2B3	uc001gda.3	uc001gda.3	P48443	P48443	OTTHUMG00000034626	OTTHUMG00000034626	ENST00000359842.5:c.1030G>A	1.37:g.165378811C>T	ENSP00000352900:p.Gly344Ser			p.G344S	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			7	1332	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		344	Ligand-binding (By similarity).	A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.1030G>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065622	0.93898	.	.	ENSG00000143171	ENST00000359842	D	0.96265	-3.96	5.08	5.08	0.68730	5.08	5.08	0.68730	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	M	0.77712	2.385	0.80722	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.96886	0.9649	9	0.37606	T	0.19	.	17.222	0.86960	0.0:1.0:0.0:0.0	.	344	P48443	RXRG_HUMAN	S	344	ENSP00000352900:G344S	ENSP00000352900:G344S	G	-	1	0	0	RXRG	163645435	163645435	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	7.400000	0.79949	2.620000	0.88729	0.655000	0.94253	GGC		0.517	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2		19.150633	-18	-18	11	11	NM_006917		6	19.170391	19.170391	5	0.545455	0	0	0	1	0	6	5	0.545455	T	165378811	C	T	165378811	3	4	80	1	0	0	0	0	1	0	0	0	13765	652	23	1	377	1	RXRG	1	165378811	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3041859	165378811	83871810	46	1561											
GPA33	10223	broad.mit.edu	37	1	167024307	167024307	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:167024307C>T	ENST00000367868.3	-	6	1076	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	245						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCTGCAACCACGCCCACCGCG	0.577																																						ENST00000367868.3											0			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(733-735)Gtg>Atg	glycoprotein A33 (transmembrane)						123	95	105					1																	167024307		2203	4300	6503	SO:0001583	missense	10223				integral to plasma membrane	receptor activity	g.chr1:167024307C>T	U79725	U79725	CCDS1258.1	CCDS1258.1	1q24.1	2013-01-29			2013-01-29			ENSG00000143167	ENSG00000143167	ENSG00000143167	ENSG00000143167		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	4445	4445	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602171	602171						9012807, 9245713	9012807, 9245713	Standard	Standard	NM_005814	NM_005814		Approved	A33	uc001gea.1	uc001gea.1	Q99795	Q99795	OTTHUMG00000034435	OTTHUMG00000034435	ENST00000367868.3:c.733G>A	1.37:g.167024307C>T	ENSP00000356842:p.Val245Met		GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	p.V245M	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			6	1076	-			245		Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	c.733G>A	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	C	8.157	0.788591	0.16258	.	.	ENSG00000143167	ENST00000367868	T	0.39056	1.1	4.76	1.63	0.23807	4.76	1.63	0.23807	.	0.559233	0.17383	N	0.176258	T	0.18002	0.0432	M	0.81497	2.545	0.09310	N	1	P	0.38711	0.643	B	0.23150	0.044	T	0.08146	-1.0736	10	0.54805	T	0.06	.	6.5687	0.22527	0.0:0.5217:0.3778:0.1005	.	245	Q99795	GPA33_HUMAN	M	245	ENSP00000356842:V245M	ENSP00000356842:V245M	V	-	1	0	0	GPA33	165290931	165290931	0.000000	0.05858	0.005000	0.12908	0.342000	0.28953	0.144000	0.16135	0.425000	0.26087	-0.234000	0.12200	GTG		0.577	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1		16.240921	6	6	52	52	NM_005814		6	17.264748	17.264748	16	0.272727	0	0	0	1	0	6	16	0.272727	T	167024307	C	T	167024307	3	4	80	1	0	0	0	0	1	0	0	0	6586	536	19	1	234	1	GPA33	1	167024307	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1645496	167024307	82226314	47	1562											
FMO3	2328	broad.mit.edu	37	1	171086253	171086253	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:171086253G>A	ENST00000367755.4	+	9	1381	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	FMO3_ENST00000542847.1_Missense_Mutation_p.E404K|FMO3_ENST00000392085.2_Missense_Mutation_p.E424K|FMO3_ENST00000538429.1_Missense_Mutation_p.E361K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	424					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGCAAAAGCGAGACCATACA	0.438																																						ENST00000367755.4											0			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1270-1272)Gag>Aag	flavin containing monooxygenase 3						96	95	95					1																	171086253		2203	4300	6503	SO:0001583	missense	2328			xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086253G>A	BC032016	BC032016	CCDS1292.1	CCDS1292.1	1q24.3	2013-10-01			2013-10-01			ENSG00000007933	ENSG00000007933	ENSG00000007933	ENSG00000007933	2.6.1.16			3771	3771	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			136132	136132						8486388, 9417913	8486388, 9417913	Standard	Standard	NM_001002294	NM_001002294		Approved		uc001ghh.3	uc001ghh.3	P31513	P31513	OTTHUMG00000035505	OTTHUMG00000035505	ENST00000367755.4:c.1270G>A	1.37:g.171086253G>A	ENSP00000356729:p.Glu424Lys		FMO3_ENST00000392085.2_Missense_Mutation_p.E424K|FMO3_ENST00000538429.1_Missense_Mutation_p.E361K|FMO3_ENST00000542847.1_Missense_Mutation_p.E404K	p.E424K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			9	1381	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		424		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1270G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934057	0.18206	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.34	-1.76	0.08006	5.34	-1.76	0.08006	.	0.656233	0.16519	N	0.210874	T	0.09512	0.0234	N	0.16833	0.445	0.09310	N	1	B;B;B	0.32071	0.355;0.013;0.0	B;B;B	0.23852	0.049;0.004;0.003	T	0.17776	-1.0358	10	0.38643	T	0.18	-0.1812	6.9481	0.24530	0.4067:0.3774:0.2159:0.0	.	361;404;424	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	K	424;424;404;361	ENSP00000356729:E424K;ENSP00000375935:E424K;ENSP00000444073:E404K;ENSP00000439500:E361K	ENSP00000356729:E424K	E	+	1	0	0	FMO3	169352877	169352877	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-1.213000	0.02991	-0.028000	0.13850	0.655000	0.94253	GAG		0.438	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		78.834050	-23	-23	51	51	NM_006894		23	79.314294	79.314294	14	0.621622	0	0	0	1	0	23	14	0.621622	A	171086253	G	A	171086253	3	1	80	1	0	0	0	0	1	0	0	0	5956	1059	37	1	1300	1	FMO3	1	171086253	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4061946	171086253	78164368	48	1563											
FMO2	2327	broad.mit.edu	37	1	171174750	171174750	+	Missense_Mutation	SNP	G	G	A	rs72549336|rs187393653		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:171174750G>A	ENST00000209929.7	+	7	1318	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.R387H|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	386					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCAAGCTCGTTGGGTGACA	0.468																																						ENST00000441535.1											0			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(1159-1161)cGt>cAt	flavin containing monooxygenase 2 (non-functional)						43	42	42					1																	171174750		2203	4299	6502	SO:0001583	missense	2327			drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171174750G>A	BC005894	BC005894	CCDS1293.1	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963	ENSG00000094963	ENSG00000094963				3770	3770	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603955	603955	"flavin containing monooxygenase 2"		"flavin containing monooxygenase 2"			1417778, 9804831	1417778, 9804831	Standard	Standard	XR_426768	XR_426768		Approved		uc001ghk.1	uc001ghk.1	Q99518	Q99518	OTTHUMG00000035504	OTTHUMG00000035504	ENST00000209929.7:c.1160G>A	1.37:g.171174750G>A	ENSP00000209929:p.Arg387His		RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.R387H	p.R387H	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			7	1277	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		387		Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.1160G>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460870	0.96240	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.63580	-0.05;-0.05	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	H	0.94385	3.53	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	D	0.85749	0.1342	10	0.72032	D	0.01	-17.9497	18.6468	0.91413	0.0:0.0:1.0:0.0	.	387	Q99518	FMO2_HUMAN	H	387	ENSP00000209929:R387H;ENSP00000405905:R387H	ENSP00000209929:R387H	R	+	2	0	0	FMO2	169441374	169441374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.732000	0.74790	2.768000	0.95171	0.655000	0.94253	CGT		0.468	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2		44.303176	-10	-10	36	36	NM_001460		15	44.364388	44.364388	18	0.454545	0	0	0	1	0	15	18	0.454545	A	171174750	G	A	171174750	3	1	80	1	0	0	0	0	1	0	0	0	5955	1145	40	1	1182	1	FMO2	1	171174750	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	88497	171174750	78075871	49	1564											
ADIPOR1	51094	broad.mit.edu	37	1	202920081	202920081	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:202920081G>A	ENST00000340990.5	-	2	416	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.R40W|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R40W	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	40					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCGATTACCCGTTTGCCCTTC	0.512																																						ENST00000340990.5											0			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(118-120)Cgg>Tgg	adiponectin receptor 1						184	169	174					1																	202920081		2203	4300	6503	SO:0001583	missense	51094			fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202920081G>A			CCDS1430.1	CCDS1430.1	1q32.1	2012-08-22			2012-08-22			ENSG00000159346	ENSG00000159346	ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	"GPCR / Unclassified : Adiponectin receptors"	24040	24040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607945	607945						12802337	12802337	Standard	Standard	XM_006711360	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	uc001gyq.5	Q96A54	Q96A54	OTTHUMG00000041391	OTTHUMG00000041391	ENST00000340990.5:c.118C>T	1.37:g.202920081G>A	ENSP00000341785:p.Arg40Trp		ADIPOR1_ENST00000367254.3_Missense_Mutation_p.R40W|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R40W	p.R40W	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		2	416	-			40		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.118C>T	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436512	0.62955	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.307883	0.35235	N	0.003343	D	0.90638	0.7064	N	0.22421	0.69	0.52501	D	0.999959	P	0.48589	0.912	B	0.26969	0.075	D	0.92131	0.5712	10	0.66056	D	0.02	.	17.1315	0.86727	0.0:0.0:1.0:0.0	.	40	Q96A54	ADR1_HUMAN	W	40	ENSP00000341785:R40W;ENSP00000395469:R40W;ENSP00000402178:R40W;ENSP00000356223:R40W;ENSP00000392946:R40W	ENSP00000341785:R40W	R	-	1	2	2	ADIPOR1	201186704	201186704	1.000000	0.71417	0.918000	0.36340	0.729000	0.41735	6.601000	0.74136	2.824000	0.97209	0.655000	0.94253	CGG		0.512	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2		79.743232	-22	-22	94	94	NM_015999		26	80.309671	80.309671	39	0.4	0	0	0	1	0	26	39	0.4	A	202920081	G	A	202920081	3	1	80	1	0	0	0	0	1	0	0	0	318	1144	40	1	1037	1	ADIPOR1	1	202920081	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	31745331	202920081	46330540	50	1565											
CHIT1	1118	broad.mit.edu	37	1	203194835	203194835	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:203194835G>A	ENST00000367229.1	-	3	253	c.219C>T	c.(217-219)gaC>gaT	p.D73D	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.D73D|CHIT1_ENST00000535569.1_Silent_p.D83D	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	73					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGAGAGTCTCGTCATTCCACT	0.577																																						ENST00000367229.1											0			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(217-219)gaC>gaT	chitinase 1 (chitotriosidase)						136	127	130					1																	203194835		2203	4300	6503	SO:0001819	synonymous_variant	1118			chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203194835G>A	U29615	U29615	CCDS1436.1, CCDS58057.1	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			2013-06-06			ENSG00000133063	ENSG00000133063	ENSG00000133063	ENSG00000133063				1936	1936	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600031	600031						9748235, 9492324	9748235, 9492324	Standard	Standard	NM_003465	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	uc001gzn.2	Q13231	Q13231	OTTHUMG00000042126	OTTHUMG00000042126	ENST00000367229.1:c.219C>T	1.37:g.203194835G>A			CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.D73D|CHIT1_ENST00000535569.1_Silent_p.D83D	p.D73D	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			3	253	-			73		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.219C>T	CCDS1436.1																																																																																									0.577	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2		15.602403	3	3	70	70	NM_003465		7	19.157159	19.157159	31	0.184211	0	0	0	1	0	7	31	0.184211	A	203194835	G	A	203194835	2	1	80	1	0	0	0	0	0	0	0	1	3346	1136	40	1		1	CHIT1	1	203194835	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	274754	203194835	46055786	51	1566											
GOLT1A	127845	broad.mit.edu	37	1	204170925	204170925	+	Silent	SNP	C	C	T	rs541877298		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:204170925C>T	ENST00000308302.3	-	3	317	c.132G>A	c.(130-132)acG>acA	p.T44T	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.T44T(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GGGACAGGCCCGTCAGGAACA	0.602													C|||	1	0.000199681	0	0	5008	,	,		18515	0		0	False		,,,				2504	0.001					ENST00000308302.3											1	Substitution - coding silent(1)	lung(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(130-132)acG>acA	golgi transport 1A						93	99	97					1																	204170925		2203	4300	6503	SO:0001819	synonymous_variant	127845			protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170925C>T	BC058832	BC058832	CCDS1443.1	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567	ENSG00000174567	ENSG00000174567				24766	24766	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"golgi transport 1 homolog A (S. cerevisiae)"		"golgi transport 1 homolog A (S. cerevisiae)"			12477932	12477932	Standard	Standard	NM_198447	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	uc001has.1	Q6ZVE7	Q6ZVE7	OTTHUMG00000036056	OTTHUMG00000036056	ENST00000308302.3:c.132G>A	1.37:g.204170925C>T				p.T44T	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	317	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		44			Silent	SNP	ENST00000308302.3	37	c.132G>A	CCDS1443.1																																																																																									0.602	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1		-1.407282	8	8	75	75	NM_198447		3	6.54141	6.54141	39	0.071429	0	0	0	1	0	3	39	0.071429	T	204170925	C	T	204170925	2	4	80	1	0	0	0	0	0	0	0	1	6570	639	23	1		1	GOLT1A	1	204170925	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	976090	204170925	45079696	52	1567											
CNTN2	6900	broad.mit.edu	37	1	205036303	205036303	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:205036303C>T	ENST00000331830.4	+	16	2334	c.2050C>T	c.(2050-2052)Cgg>Tgg	p.R684W		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	684	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTATGAGTTCCGGGTCATAGC	0.577																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4											0			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2050-2052)Cgg>Tgg	contactin 2 (axonal)						89	88	89					1																	205036303		2203	4300	6503	SO:0001583	missense	6900			axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205036303C>T	X67734	X67734	CCDS1449.1	CCDS1449.1	1q32.1	2013-02-11			2013-02-11			ENSG00000184144	ENSG00000184144	ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	2172	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			190197	190197		TAX, AXT		TAX, AXT		8307567, 8586965	8307567, 8586965	Standard	Standard	NM_005076	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	uc001hbr.3	Q02246	Q02246	OTTHUMG00000037105	OTTHUMG00000037105	ENST00000331830.4:c.2050C>T	1.37:g.205036303C>T	ENSP00000330633:p.Arg684Trp			p.R684W	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		16	2334	+	all_cancers(21;0.144)|Breast(84;0.0437)		684	Fibronectin type-III 1.	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.2050C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265336	0.80358	.	.	ENSG00000184144	ENST00000331830	T	0.60920	0.15	5.51	5.51	0.81932	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000380	D	0.88284	0.6395	H	0.99806	4.795	0.47621	D	0.999478	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93732	0.7042	10	0.87932	D	0	.	19.014	0.92886	0.0:1.0:0.0:0.0	.	684;575	Q02246;Q68DA2	CNTN2_HUMAN;.	W	684	ENSP00000330633:R684W	ENSP00000330633:R684W	R	+	1	2	2	CNTN2	203302926	203302926	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.472000	0.45136	2.590000	0.87494	0.467000	0.42956	CGG		0.577	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3		5.506858	8	8	96	96	NM_005076		6	14.587937	14.587937	52	0.103448	0	0	0	1	0	6	52	0.103448	T	205036303	C	T	205036303	3	4	80	1	0	0	0	0	1	0	0	0	3641	643	23	1	2108	1	CNTN2	1	205036303	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	865378	205036303	44214318	53	1568											
C1orf116	79098	broad.mit.edu	37	1	207200928	207200928	+	Missense_Mutation	SNP	G	G	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:207200928G>T	ENST00000359470.5	-	2	265	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	6						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTGGCCACAGCTCCCTCTCG	0.612																																						ENST00000359470.5											0			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(16-18)Ctg>Atg	chromosome 1 open reading frame 116						65	60	62					1																	207200928		2203	4300	6503	SO:0001583	missense	79098				cytoplasm|plasma membrane	receptor activity	g.chr1:207200928G>T			CCDS1475.1, CCDS44306.1	CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			2012-06-26			ENSG00000182795	ENSG00000182795	ENSG00000182795	ENSG00000182795				28667	28667	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"specifically androgen-regulated gene"	"specifically androgen-regulated gene"	611680	611680						15525603, 9389513	15525603, 9389513	Standard	Standard	NM_023938	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	uc001hfd.2	Q9BW04	Q9BW04	OTTHUMG00000036580	OTTHUMG00000036580	ENST00000359470.5:c.16C>A	1.37:g.207200928G>T	ENSP00000352447:p.Leu6Met		C1orf116_ENST00000461135.2_Intron	p.L6M	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			2	265	-	Prostate(682;0.19)		6		C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.16C>A	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025097	0.75390	.	.	ENSG00000182795	ENST00000359470	T	0.11604	2.76	5.48	4.56	0.56223	5.48	4.56	0.56223	.	0.272697	0.35151	N	0.003414	T	0.29684	0.0741	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.02167	-1.1202	10	0.87932	D	0	-5.7755	13.6392	0.62239	0.0755:0.0:0.9245:0.0	.	6	Q9BW04	SARG_HUMAN	M	6	ENSP00000352447:L6M	ENSP00000352447:L6M	L	-	1	2	2	C1orf116	205267551	205267551	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.797000	0.38804	1.272000	0.44329	0.655000	0.94253	CTG		0.612	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1		-2.111334	-5	-5	46	46	NM_024115		3	6.378109	6.378109	41	0.068182	1	0	1	1	1	3	41	0.068182	T	207200928	G	T	207200928	3	4	80	1	0	0	0	0	1	0	0	0	1989	962	34	5	1801	5	C1orf116	1	207200928	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2164625	207200928	42049693	54	1569											
CENPF	1063	broad.mit.edu	37	1	214816120	214816120	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:214816120G>A	ENST00000366955.3	+	12	4607	c.4439G>A	c.(4438-4440)tGt>tAt	p.C1480Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1576	2 X 96 AA approximate tandem repeats.				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)		TCATCCTCTTGTGTGCCTGAC	0.463																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3											0			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						c.(4438-4440)tGt>tAt	centromere protein F, 350/400kDa						68	66	67					1																	214816120		2203	4300	6503	SO:0001583	missense	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.chr1:214816120G>A	U30872	U30872	CCDS31023.1	CCDS31023.1	1q41	2013-11-05	2013-01-17		2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724	ENSG00000117724	ENSG00000117724				1857	1857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"mitosin"	"mitosin"	600236	600236	"centromere protein F, 350/400kDa (mitosin)"		"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	7904902, 7851898	Standard	Standard	NM_016343	NM_016343		Approved	hcp-1	uc001hkm.3	uc001hkm.3	P49454	P49454	OTTHUMG00000036955	OTTHUMG00000036955	ENST00000366955.3:c.4439G>A	1.37:g.214816120G>A	ENSP00000355922:p.Cys1480Tyr			p.C1480Y	NM_016343.3	NP_057427.3	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	4607	+			1576	2 X 96 AA approximate tandem repeats.	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.4439G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	4.592	0.109987	0.08780	.	.	ENSG00000117724	ENST00000366955	T	0.36340	1.26	4.53	3.53	0.40419	4.53	3.53	0.40419	.	0.236921	0.22155	N	0.063863	T	0.27866	0.0686	L	0.27053	0.805	0.09310	N	1	D	0.56521	0.976	P	0.47528	0.549	T	0.06734	-1.0810	10	0.38643	T	0.18	.	7.9878	0.30222	0.0898:0.2759:0.6343:0.0	.	1480	P49454	CENPF_HUMAN	Y	1480	ENSP00000355922:C1480Y	ENSP00000355922:C1480Y	C	+	2	0	0	CENPF	212882743	212882743	0.466000	0.25823	0.006000	0.13384	0.110000	0.19582	2.389000	0.44407	2.223000	0.72356	0.655000	0.94253	TGT		0.463	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		49.263712	18	18	64	64	NM_016343		17	49.263712	49.263712	17	0.5	0	0	0	1	0	17	17	0.5	A	214816120	G	A	214816120	3	1	80	1	0	0	0	0	1	0	0	0	3231	1377	48	3	4481	3	CENPF	1	214816120	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7615192	214816120	34434501	55	1570											
OBSCN	84033	broad.mit.edu	37	1	228505446	228505446	+	Missense_Mutation	SNP	C	C	T	rs528758181		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:228505446C>T	ENST00000422127.1	+	52	13887	c.13843C>T	c.(13843-13845)Cgg>Tgg	p.R4615W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4615W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5572W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1734W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2249W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4615	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGACAGTGCGGCTTGGTGA	0.672													c|||	1	0.000199681	0	0	5008	,	,		16084	0		0.001	False		,,,				2504	0					ENST00000570156.2											0			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(16714-16716)Cgg>Tgg	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						47	54	51					1																	228505446		1980	4022	6002	SO:0001583	missense	84033			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228505446C>T	AJ002535	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			2014-09-17			ENSG00000154358	ENSG00000154358	ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	15719	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608616	608616						11448995, 11814696	11448995, 11814696	Standard	Standard	NM_001098623	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	uc001hsq.2	Q5VST9	Q5VST9	OTTHUMG00000039772	OTTHUMG00000039772	ENST00000422127.1:c.13843C>T	1.37:g.228505446C>T	ENSP00000409493:p.Arg4615Trp		OBSCN_ENST00000422127.1_Missense_Mutation_p.R4615W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1734W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2249W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4615W	p.R5572W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			63	16788	+		Prostate(94;0.0405)	4615		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.16714C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	14.63	2.592383	0.46214	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.51	-2.93	0.05598	4.51	-2.93	0.05598	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.955998	0.08623	N	0.918149	T	0.51075	0.1653	N	0.22421	0.69	0.09310	N	0.99999	D;D	0.65815	0.991;0.995	B;P	0.50049	0.425;0.629	T	0.56050	-0.8043	10	0.66056	D	0.02	.	14.1853	0.65601	0.1629:0.7445:0.0:0.0926	.	4615;4615	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4615;4615;2249;1734	ENSP00000284548:R4615W;ENSP00000409493:R4615W;ENSP00000355668:R2249W;ENSP00000355670:R1734W	ENSP00000284548:R4615W	R	+	1	2	2	OBSCN	226572069	226572069	0.922000	0.31269	0.001000	0.08648	0.163000	0.22366	0.812000	0.27211	-0.757000	0.04697	0.479000	0.44913	CGG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			74.495366	-25	-25	66	66	NM_052843		24	74.640133	74.640133	30	0.444444	0	0	0	1	0	24	30	0.444444	T	228505446	C	T	228505446	3	4	80	1	0	0	0	0	1	0	0	0	10812	759	27	1	14045	1	OBSCN	1	228505446	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13689326	228505446	20745175	56	1571											
GALNT2	2590	broad.mit.edu	37	1	230371780	230371780	+	Missense_Mutation	SNP	G	G	A	rs151140953		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:230371780G>A	ENST00000366672.4	+	4	467	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	GALNT2_ENST00000543760.1_Missense_Mutation_p.R94Q|GALNT2_ENST00000541865.1_Missense_Mutation_p.R42Q	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	132					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AAGCAGTGGCGGGTGGATCTG	0.577																																						ENST00000366672.4											0			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(394-396)cGg>cAg	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	43	41	42		395	5.2	1	1	dbSNP_134	42	0,8600		0,0,4300	no	missense	GALNT2	NM_004481.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	132/572	230371780	1,13005	2203	4300	6503	SO:0001583	missense	2590			immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230371780G>A	BC041120	BC041120	CCDS1582.1	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	"Glycosyltransferase family 2 domain containing"	4124	4124	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	"polypeptide GalNAc transferase 2"	602274	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"		"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	9592121, 7592619	Standard	Standard	NM_004481	NM_004481		Approved	GalNAc-T2	uc010pwa.1	uc010pwa.1	Q10471	Q10471	OTTHUMG00000037771	OTTHUMG00000037771	ENST00000366672.4:c.395G>A	1.37:g.230371780G>A	ENSP00000355632:p.Arg132Gln		GALNT2_ENST00000541865.1_Missense_Mutation_p.R42Q|GALNT2_ENST00000543760.1_Missense_Mutation_p.R94Q	p.R132Q	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			4	467	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	132		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.395G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442195	0.43326	2.27E-4	0.0	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000541865	T;T;T	0.59083	0.29;0.29;0.29	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.598474	0.18343	N	0.144121	T	0.47154	0.1430	L	0.39020	1.185	0.53005	D	0.999966	B;B	0.23650	0.053;0.089	B;B	0.08055	0.002;0.003	T	0.39502	-0.9611	10	0.13108	T	0.6	.	17.4619	0.87622	0.0:0.0:1.0:0.0	.	132;94	Q10471;G3V1S6	GALT2_HUMAN;.	Q	94;132;42	ENSP00000445017:R94Q;ENSP00000355632:R132Q;ENSP00000444346:R42Q	ENSP00000355632:R132Q	R	+	2	0	0	GALNT2	228438403	228438403	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.387000	0.66243	2.415000	0.81967	0.563000	0.77884	CGG		0.577	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1		19.916762	7	7	42	42	NM_004481		7	20.848872	20.848872	17	0.291667	0	0	0	1	0	7	17	0.291667	A	230371780	G	A	230371780	3	1	80	1	0	0	0	0	1	0	0	0	6213	1116	39	1	409	1	GALNT2	1	230371780	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1866334	230371780	18878841	57	1572											
COG2	22796	broad.mit.edu	37	1	230819334	230819334	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:230819334C>T	ENST00000366669.4	+	11	1296	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	COG2_ENST00000534989.1_Missense_Mutation_p.A335V|COG2_ENST00000546013.1_Missense_Mutation_p.A83V|COG2_ENST00000366668.3_Missense_Mutation_p.A394V|COG2_ENST00000535166.1_Missense_Mutation_p.A278V	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	394					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGAGAAATAGCGGGATCCTTA	0.388																																						ENST00000534989.1											0			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1003-1005)gCg>gTg	component of oligomeric golgi complex 2						147	145	146					1																	230819334		2203	4300	6503	SO:0001583	missense	22796			Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230819334C>T	Z34975	Z34975	CCDS1584.1, CCDS44329.1	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	"Components of oligomeric golgi complex"	6546	6546	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606974	606974	"low density lipoprotein receptor defect C complementing"	LDLC	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	7962052	Standard	Standard	NM_007357	NM_007357		Approved		uc001htw.3	uc001htw.3	Q14746	Q14746	OTTHUMG00000037753	OTTHUMG00000037753	ENST00000366669.4:c.1181C>T	1.37:g.230819334C>T	ENSP00000355629:p.Ala394Val		COG2_ENST00000535166.1_Missense_Mutation_p.A278V|COG2_ENST00000546013.1_Missense_Mutation_p.A83V|COG2_ENST00000366668.3_Missense_Mutation_p.A394V|COG2_ENST00000366669.4_Missense_Mutation_p.A394V	p.A335V			Q14746	COG2_HUMAN			11	1339	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	394		Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.1004C>T	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718312	0.89205	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.54071	3.51;3.51;3.51;3.51;0.59	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.047537	0.85682	D	0.000000	T	0.70263	0.3204	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.65140	0.859;0.932	T	0.65965	-0.6040	10	0.33141	T	0.24	-19.3267	19.8057	0.96531	0.0:1.0:0.0:0.0	.	394;394	Q86U99;Q14746	.;COG2_HUMAN	V	394;278;394;335;83	ENSP00000355629:A394V;ENSP00000445724:A278V;ENSP00000355628:A394V;ENSP00000440349:A335V;ENSP00000442147:A83V	ENSP00000355628:A394V	A	+	2	0	0	COG2	228885957	228885957	0.999000	0.42202	0.964000	0.40570	0.749000	0.42624	4.412000	0.59787	2.682000	0.91365	0.655000	0.94253	GCG		0.388	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1		77.535707	3	3	88	88	NM_007357		26	77.769	77.769	34	0.433333	0	0	0	1	0	26	34	0.433333	T	230819334	C	T	230819334	3	4	80	1	0	0	0	0	1	0	0	0	3658	768	27	1	1223	1	COG2	1	230819334	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	447554	230819334	18431287	58	1573											
LYST	1130	broad.mit.edu	37	1	235827917	235827917	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:235827917G>A	ENST00000389794.3	-	51	11217	c.11043C>T	c.(11041-11043)ggC>ggT	p.G3681G	LYST_ENST00000389793.2_Silent_p.G3681G|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3681					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACTGCCTCCGCCAGCTAAAA	0.567																																						ENST00000389794.3											0			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(11041-11043)ggC>ggT	lysosomal trafficking regulator						63	56	58					1																	235827917		2203	4300	6503	SO:0001819	synonymous_variant	1130			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235827917G>A	U70064	U70064	CCDS31062.1	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	"WD repeat domain containing"	1968	1968	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606897	606897	"Chediak-Higashi syndrome 1"	CHS1	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	8717042, 8896560	Standard	Standard	NM_000081	NM_000081		Approved	CHS	uc001hxj.3	uc001hxj.3	Q99698	Q99698	OTTHUMG00000040527	OTTHUMG00000040527	ENST00000389794.3:c.11043C>T	1.37:g.235827917G>A			LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.G3681G	p.G3681G			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		51	11217	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3681		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.11043C>T	CCDS31062.1																																																																																									0.567	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		21.253993	-1	-1	49	49			9	23.845282	23.845282	30	0.230769	0	0	0	1	0	9	30	0.230769	A	235827917	G	A	235827917	2	1	80	1	0	0	0	0	0	0	0	1	9128	1074	38	1		1	LYST	1	235827917	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5008583	235827917	13422704	59	1574											
RYR2	6262	broad.mit.edu	37	1	237870347	237870347	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:237870347C>T	ENST00000366574.2	+	68	9996	c.9679C>T	c.(9679-9681)Cgc>Tgc	p.R3227C	RYR2_ENST00000360064.6_Missense_Mutation_p.R3225C|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3211C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3227					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCCGGCATTCGCTACACTCA	0.473																																						ENST00000366574.2											0			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9679-9681)Cgc>Tgc	ryanodine receptor 2 (cardiac)						122	120	121					1																	237870347		1998	4192	6190	SO:0001583	missense	6262			cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870347C>T	X91869	X91869	CCDS55691.1	CCDS55691.1	1q43	2014-09-17			2014-09-17			ENSG00000198626	ENSG00000198626	ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	10484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180902	180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	2380170, 8406504, 11159936	Standard	Standard	NM_001035	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	uc001hyl.1	Q92736	Q92736	OTTHUMG00000039543	OTTHUMG00000039543	ENST00000366574.2:c.9679C>T	1.37:g.237870347C>T	ENSP00000355533:p.Arg3227Cys		RYR2_ENST00000360064.6_Missense_Mutation_p.R3225C|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3211C	p.R3227C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9996	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3227		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9679C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231190	0.79688	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.88586	-0.23;-2.4;-0.23	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000009	D	0.94019	0.8084	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	P	0.56960	0.81	D	0.94377	0.7601	10	0.87932	D	0	-11.2401	19.8946	0.96949	0.0:1.0:0.0:0.0	.	3227	Q92736	RYR2_HUMAN	C	3227;3225;3211;182	ENSP00000355533:R3227C;ENSP00000353174:R3225C;ENSP00000443798:R3211C	ENSP00000353174:R3225C	R	+	1	0	0	RYR2	235936970	235936970	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	3.248000	0.51430	2.711000	0.92665	0.655000	0.94253	CGC		0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		96.850339	18	18	87	87	NM_001035		30	96.853848	96.853848	31	0.491803	0	0	0	1	0	30	31	0.491803	T	237870347	C	T	237870347	3	4	80	1	0	0	0	0	1	0	0	0	13769	884	31	1	9949	1	RYR2	1	237870347	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2042430	237870347	11380274	60	1575											
GREB1	9687	broad.mit.edu	37	2	11774455	11774455	+	Silent	SNP	C	C	T	rs368127534		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:11774455C>T	ENST00000381486.2	+	29	5490	c.5190C>T	c.(5188-5190)aaC>aaT	p.N1730N	GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1730						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACCCAGAACGTGCAGTACA	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2											0			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5188-5190)aaC>aaT	growth regulation by estrogen in breast cancer 1						35	37	36					2																	11774455		2100	4232	6332	SO:0001819	synonymous_variant	9687				integral to membrane		g.chr2:11774455C>T			CCDS33146.1, CCDS33147.1, CCDS42655.1	CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208	ENSG00000196208	ENSG00000196208				24885	24885	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	"gene regulated by estrogen in breast cancer"	611736	611736						11103799	11103799	Standard	Standard	NM_014668	NM_014668		Approved	KIAA0575	uc002rbk.1	uc002rbk.1	Q4ZG55	Q4ZG55	OTTHUMG00000141276	OTTHUMG00000141276	ENST00000381486.2:c.5190C>T	2.37:g.11774455C>T			GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N	p.N1730N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	29	5490	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1730		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.5190C>T	CCDS42655.1																																																																																									0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		12.598478	-4	-4	30	30	NM_014668		4	12.685791	12.685791	6	0.4	0	0	0	1	0	4	6	0.4	T	11774455	C	T	11774455	2	4	80	1	0	0	0	0	0	0	0	1	6760	535	19	1		1	GREB1	2	11774455	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		11774455	231424918	61	1576											
EIF2AK2	5610	broad.mit.edu	37	2	37349797	37349797	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:37349797G>A	ENST00000233057.4	-	12	1241	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.R266C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.R307C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	307	Interaction with TRAF5.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)	p.R307C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTTACTTCACGCTCCGCCTTC	0.408																																						ENST00000233057.4											1	Substitution - Missense(1)	pancreas(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(919-921)Cgt>Tgt	eukaryotic translation initiation factor 2-alpha kinase 2						138	127	131					2																	37349797		2203	4300	6503	SO:0001583	missense	5610			evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37349797G>A	BC057805	BC057805	CCDS1786.1, CCDS46259.1	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332	ENSG00000055332	ENSG00000055332				9437	9437	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	"protein phosphatase 1, regulatory subunit 83"	176871	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	1351683	Standard	Standard	NM_001135651	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	uc010fac.3	P19525	P19525	OTTHUMG00000100962	OTTHUMG00000100962	ENST00000233057.4:c.919C>T	2.37:g.37349797G>A	ENSP00000233057:p.Arg307Cys		EIF2AK2_ENST00000405334.1_Missense_Mutation_p.R266C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.R307C	p.R307C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			12	1241	-		all_hematologic(82;0.248)	307	Protein kinase.	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.919C>T	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939260	0.73557	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334	T;T;T	0.55930	0.49;0.49;0.49	4.82	4.82	0.62117	4.82	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120830	0.37715	N	0.001974	T	0.75910	0.3914	M	0.90922	3.16	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80665	-0.1281	10	0.87932	D	0	-13.7913	10.7482	0.46194	0.0899:0.0:0.9101:0.0	.	307;307;266	Q8IW76;P19525;E9PC80	.;E2AK2_HUMAN;.	C	307;307;266	ENSP00000233057:R307C;ENSP00000378559:R307C;ENSP00000385014:R266C	ENSP00000233057:R307C	R	-	1	0	0	EIF2AK2	37203301	37203301	0.956000	0.32656	0.917000	0.36280	0.262000	0.26303	4.446000	0.60014	2.388000	0.81334	0.585000	0.79938	CGT		0.408	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2		55.344545	-12	-12	69	69	NM_002759		18	55.477332	55.477332	23	0.439024	0	0	0	1	0	18	23	0.439024	A	37349797	G	A	37349797	3	1	80	1	0	0	0	0	1	0	0	0	4997	1087	38	1	760	1	EIF2AK2	2	37349797	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	25575342	37349797	205849576	62	1577											
STON1	11037	broad.mit.edu	37	2	48809431	48809431	+	Silent	SNP	G	G	A	rs370458736		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:48809431G>A	ENST00000406226.1	+	3	1854	c.1659G>A	c.(1657-1659)gcG>gcA	p.A553A	STON1-GTF2A1L_ENST00000309827.2_Silent_p.A553A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A553A|STON1_ENST00000309835.3_Silent_p.A553A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A553A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A553A|STON1-GTF2A1L_ENST00000405008.1_Silent_p.A553A|STON1_ENST00000404752.1_Silent_p.A553A	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	553	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.A553A(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTCATTGGCGCAGAGGTCAT	0.478																																						ENST00000309835.3											2	Substitution - coding silent(2)	large_intestine(2)	NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1657-1659)gcG>gcA	stonin 1	G	,,,,	0,4406		0,0,2203	148	146	146		1659,1659,1659,1659,1659	-4	0	2		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	STON1,STON1-GTF2A1L	NM_001198593.1,NM_001198594.1,NM_001198595.1,NM_006873.3,NM_172311.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	553/1159,553/1136,553/736,553/736,553/1183	48809431	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11037						g.chr2:48809431G>A	AF026169	AF026169	CCDS1841.1	CCDS1841.1	2p16.3	2008-02-05			2008-02-05			ENSG00000243244	ENSG00000243244	ENSG00000243244	ENSG00000243244				17003	17003	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	"stoned B homolog 1 (Drosophila)"	605357	605357						14504226, 10364255	14504226, 10364255	Standard	Standard	NM_001198595	NM_001198595		Approved	SBLF, stoned-b1			Q9Y6Q2	Q9Y6Q2	OTTHUMG00000129169	OTTHUMG00000129169	ENST00000406226.1:c.1659G>A	2.37:g.48809431G>A			STON1-GTF2A1L_ENST00000309827.2_Silent_p.A553A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A553A|STON1_ENST00000404752.1_Silent_p.A553A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A553A|STON1-GTF2A1L_ENST00000405008.1_Silent_p.A553A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A553A|STON1_ENST00000406226.1_Silent_p.A553A	p.A553A					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1669	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.1659G>A	CCDS1841.1																																																																																									0.478	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2		91.037351	-23	-23	90	90	NM_006873		30	91.12156	91.12156	35	0.461538	0	0	0	1	0	30	35	0.461538	A	48809431	G	A	48809431	2	1	80	1	0	0	0	0	0	0	0	1	15315	1074	38	1		1	STON1	2	48809431	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	11459634	48809431	194389942	63	1578											
ALMS1	7840	broad.mit.edu	37	2	73828485	73828485	+	Silent	SNP	C	C	T	rs370981817		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:73828485C>T	ENST00000264448.6	+	19	12144	c.12033C>T	c.(12031-12033)gaC>gaT	p.D4011D	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Silent_p.D3969D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4011					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCACCTGGACGGTCGGGGCT	0.592																																						ENST00000264448.6											0			breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12031-12033)gaC>gaT	Alstrom syndrome 1	C		0,4396		0,0,2198	51	59	57		12033	-5.9	0	2		57	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ALMS1	NM_015120.4		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		4011/4168	73828485	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	7840			G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73828485C>T	AB002326	AB002326	CCDS42697.1	CCDS42697.1	2p13.1	2014-09-17			2014-09-17			ENSG00000116127	ENSG00000116127	ENSG00000116127	ENSG00000116127				428	428	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606844	606844						9063741	9063741	Standard	Standard	NM_015120	NM_015120		Approved	KIAA0328	uc002sje.1	uc002sje.1	Q8TCU4	Q8TCU4	OTTHUMG00000152812	OTTHUMG00000152812	ENST00000264448.6:c.12033C>T	2.37:g.73828485C>T			ALMS1_ENST00000409009.1_Silent_p.D3969D|ALMS1_ENST00000464408.2_3'UTR	p.D4011D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN			19	12144	+			4011		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.12033C>T	CCDS42697.1																																																																																									0.592	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		6.346896	-2	-2	60	60	NM_015120		5	12.575331	12.575331	38	0.116279	0	0	0	1	0	5	38	0.116279	T	73828485	C	T	73828485	2	4	80	1	0	0	0	0	0	0	0	1	535	535	19	1		1	ALMS1	2	73828485	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	25019054	73828485	169370888	64	1579											
DUSP11	8446	broad.mit.edu	37	2	74002108	74002108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:74002108G>A	ENST00000272444.3	-	3	423	c.382C>T	c.(382-384)Cga>Tga	p.R128*	DUSP11_ENST00000377706.4_Nonsense_Mutation_p.R81*|DUSP11_ENST00000443070.1_Nonsense_Mutation_p.R128*|DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	81	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)	p.R81*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTTGTTCTCGGATTTTGTTA	0.338																																						ENST00000443070.1											1	Substitution - Nonsense(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(382-384)Cga>Tga	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)						92	95	94					2																	74002108		2203	4300	6503	SO:0001587	stop_gained	8446			RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:74002108G>A	AF023917	AF023917	CCDS1928.2	CCDS1928.2	2p13.1	2011-06-09			2011-06-09			ENSG00000144048	ENSG00000144048	ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	3066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603092	603092						9685386	9685386	Standard	Standard	NM_003584	NM_003584		Approved	PIR1	uc002sjp.3	uc002sjp.3	O75319	O75319	OTTHUMG00000129816	OTTHUMG00000129816	ENST00000272444.3:c.382C>T	2.37:g.74002108G>A	ENSP00000272444:p.Arg128*		DUSP11_ENST00000272444.3_Nonsense_Mutation_p.R128*|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000377706.4_Nonsense_Mutation_p.R81*	p.R128*			O75319	DUS11_HUMAN			3	387	-			81	Tyrosine-protein phosphatase.	B2RCT8|Q6AI47|Q9BWE3	Nonsense_Mutation	SNP	ENST00000272444.3	37	c.382C>T	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822595	0.32237	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706;ENST00000452812	.	.	.	4.71	0.909	0.19332	4.71	0.909	0.19332	.	0.904261	0.09730	N	0.763308	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1216	3.2235	0.06724	0.1599:0.136:0.5637:0.1404	.	.	.	.	X	128;128;81;79	.	ENSP00000272444:R128X	R	-	1	2	2	DUSP11	73855616	73855616	0.998000	0.40836	0.109000	0.21407	0.127000	0.20565	1.602000	0.36783	0.060000	0.16281	-0.137000	0.14449	CGA		0.338	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3		50.126274	-4	-4	53	53			15	50.133778	50.133778	14	0.517241	0	0	0	1	0	15	14	0.517241	A	74002108	G	A	74002108	4	1	80	1	0	0	0	0	0	1	0	0	4811	1124	39	1	779	1	DUSP11	2	74002108	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	173623	74002108	169197265	65	1580											
DCTN1	1639	broad.mit.edu	37	2	74593736	74593736	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:74593736C>T	ENST00000361874.3	-	22	2795	c.2478G>A	c.(2476-2478)acG>acA	p.T826T	DCTN1_ENST00000409240.1_Silent_p.T789T|DCTN1_ENST00000409438.1_Silent_p.T692T|DCTN1_ENST00000394003.3_Silent_p.T819T|DCTN1_ENST00000495643.1_Intron|DCTN1_ENST00000409868.1_Silent_p.T809T|DCTN1_ENST00000409567.3_Silent_p.T806T|DCTN1_ENST00000407639.2_Silent_p.T692T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	826					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGTCTAGGAGCGTGTCAGATA	0.572																																						ENST00000361874.3											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2476-2478)acG>acA	dynactin 1						131	130	130					2																	74593736		2203	4300	6503	SO:0001819	synonymous_variant	1639			cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593736C>T			CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843	ENSG00000204843	ENSG00000204843				2711	2711	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	"p150 glued homolog (Drosophila)"	601143	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"		"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	1828535	Standard	Standard	NM_001190836	NM_001190836		Approved		uc002skx.3	uc002skx.3	Q14203	Q14203	OTTHUMG00000129963	OTTHUMG00000129963	ENST00000361874.3:c.2478G>A	2.37:g.74593736C>T			DCTN1_ENST00000495643.1_Intron|DCTN1_ENST00000409567.3_Silent_p.T806T|DCTN1_ENST00000409868.1_Silent_p.T809T|DCTN1_ENST00000409438.1_Silent_p.T692T|DCTN1_ENST00000409240.1_Silent_p.T789T|DCTN1_ENST00000394003.3_Silent_p.T819T|DCTN1_ENST00000407639.2_Silent_p.T692T	p.T826T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			22	2795	-			826		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.2478G>A	CCDS1939.1																																																																																									0.572	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3		156.372665	-28	-28	187	187	NM_004082		52	157.282989	157.282989	75	0.409449	0	0	0	1	0	52	75	0.409449	T	74593736	C	T	74593736	2	4	80	1	0	0	0	0	0	0	0	1	4306	755	27	1		1	DCTN1	2	74593736	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	591628	74593736	168605637	66	1581											
DCTN1	1639	broad.mit.edu	37	2	74596484	74596484	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:74596484C>T	ENST00000361874.3	-	14	1844	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	DCTN1_ENST00000409240.1_Silent_p.T472T|DCTN1_ENST00000409438.1_Silent_p.T375T|DCTN1_ENST00000394003.3_Silent_p.T502T|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409868.1_Silent_p.T492T|DCTN1_ENST00000409567.3_Silent_p.T489T|DCTN1_ENST00000407639.2_Silent_p.T375T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	509					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGTCTGCAACCGTCTCCTGGG	0.617																																						ENST00000361874.3											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(1525-1527)acG>acA	dynactin 1						160	152	155					2																	74596484		2203	4300	6503	SO:0001819	synonymous_variant	1639			cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74596484C>T			CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843	ENSG00000204843	ENSG00000204843				2711	2711	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	"p150 glued homolog (Drosophila)"	601143	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"		"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	1828535	Standard	Standard	NM_001190836	NM_001190836		Approved		uc002skx.3	uc002skx.3	Q14203	Q14203	OTTHUMG00000129963	OTTHUMG00000129963	ENST00000361874.3:c.1527G>A	2.37:g.74596484C>T			DCTN1_ENST00000409567.3_Silent_p.T489T|DCTN1_ENST00000409868.1_Silent_p.T492T|DCTN1_ENST00000409438.1_Silent_p.T375T|DCTN1_ENST00000409240.1_Silent_p.T472T|DCTN1_ENST00000394003.3_Silent_p.T502T|DCTN1_ENST00000407639.2_Silent_p.T375T	p.T509T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			14	1844	-			509		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.1527G>A	CCDS1939.1																																																																																									0.617	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3		11.461393	-1	-1	49	49	NM_004082		5	13.553491	13.553491	20	0.2	0	0	0	1	0	5	20	0.2	T	74596484	C	T	74596484	2	4	80	1	0	0	0	0	0	0	0	1	4306	639	23	1		1	DCTN1	2	74596484	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2748	74596484	168602889	67	1582											
C2orf55	343990	broad.mit.edu	37	2	99449341	99449341	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:99449341C>T	ENST00000397899.2	-	4	690	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	KIAA1211L_ENST00000462314.1_Intron	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	120																	AGCTTTAATCCGATCACACAC	0.463																																						ENST00000397899.2											0										c.(358-360)cGg>cAg	KIAA1211-like						232	241	238					2																	99449341		1907	4139	6046	SO:0001583	missense	343990						g.chr2:99449341C>T	BC068277	BC068277	CCDS42720.1	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872	ENSG00000196872	ENSG00000196872				33454	33454	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 2 open reading frame 55"	C2orf55	"chromosome 2 open reading frame 55"	C2orf55				Standard	Standard	NM_207362	NM_207362		Approved	MGC42367	uc002szf.1	uc002szf.1	Q6NV74	Q6NV74	OTTHUMG00000153171	OTTHUMG00000153171	ENST00000397899.2:c.359G>A	2.37:g.99449341C>T	ENSP00000380996:p.Arg120Gln		KIAA1211L_ENST00000462314.1_Intron	p.R120Q	NM_207362.2	NP_997245.2					4	690	-						Missense_Mutation	SNP	ENST00000397899.2	37	c.359G>A	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901746	0.92035	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261	T	0.52754	0.65	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.190957	0.27031	N	0.021265	T	0.67915	0.2944	M	0.65498	2.005	0.32497	N	0.539363	D	0.89917	1.0	D	0.91635	0.999	T	0.75379	-0.3338	10	0.87932	D	0	-13.8568	17.3797	0.87401	0.0:1.0:0.0:0.0	.	120	Q6NV74	CB055_HUMAN	Q	120;148;134;134	ENSP00000380996:R120Q	ENSP00000380996:R120Q	R	-	2	0	0	C2orf55	98815773	98815773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.508000	0.67006	2.556000	0.86216	0.655000	0.94253	CGG		0.463	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1		-43.610548	-48	-48	279	279	NM_207362		4	6.554116	6.554116	191	0.020513	0	0	0	1	0	4	191	0.020513	T	99449341	C	T	99449341	3	4	80	1	0	0	0	0	1	0	0	0	2176	652	23	1	2557	1	C2orf55	2	99449341	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	24852857	99449341	143750032	68	1583											
NPAS2	4862	broad.mit.edu	37	2	101541694	101541694	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:101541694C>T	ENST00000335681.5	+	3	404	c.119C>T	c.(118-120)aCg>aTg	p.T40M	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.T105M	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	40	Sufficient for heterodimer formation with ARNTL/BMAL1, E-box binding and for the effect of NADPH. {ECO:0000250|UniProtKB:P97460}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGGCAACACGCGGAAAATG	0.453																																						ENST00000335681.5											0			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(118-120)aCg>aTg	neuronal PAS domain protein 2						115	107	110					2																	101541694		2203	4300	6503	SO:0001583	missense	4862			central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101541694C>T	U77970	U77970	CCDS2048.1	CCDS2048.1	2q11.2	2013-05-21			2013-05-21			ENSG00000170485	ENSG00000170485	ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	"Basic helix-loop-helix proteins"	7895	7895	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603347	603347						9012850, 9079689	9012850, 9079689	Standard	Standard	NM_002518	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	uc002tap.1	Q99743	Q99743	OTTHUMG00000130675	OTTHUMG00000130675	ENST00000335681.5:c.119C>T	2.37:g.101541694C>T	ENSP00000338283:p.Thr40Met		NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.T105M	p.T40M	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			3	404	+			40	Helix-loop-helix motif.	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.119C>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.920888|4.920888	0.92249|0.92249	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000427413|ENST00000335681;ENST00000542504;ENST00000451740	D|D;D;D	0.98060|0.97924	-4.69|-4.61;-4.61;-4.61	5.65|5.65	4.77|4.77	0.60923|0.60923	5.65|5.65	4.77|4.77	0.60923|0.60923	.|Helix-loop-helix DNA-binding (5);	.|0.109289	.|0.64402	.|N	.|0.000007	D|D	0.97857|0.97857	0.9296|0.9296	L|L	0.46157|0.46157	1.445|1.445	0.54753|0.54753	D|D	0.999984|0.999984	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.75020	.|0.975;0.985	D|D	0.98565|0.98565	1.0643|1.0643	6|10	.|0.66056	.|D	.|0.02	.|.	14.3258|14.3258	0.66518|0.66518	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	.|105;40	.|F5H027;Q99743	.|.;NPAS2_HUMAN	C|M	106|40;105;24	ENSP00000397595:R106C|ENSP00000338283:T40M;ENSP00000438428:T105M;ENSP00000395265:T24M	.|ENSP00000338283:T40M	R|T	+|+	1|2	0|0	0|0	NPAS2|NPAS2	100908126|100908126	100908126|100908126	0.997000|0.997000	0.39634|0.39634	0.857000|0.857000	0.33713|0.33713	0.924000|0.924000	0.55760|0.55760	3.680000|3.680000	0.54641|0.54641	1.378000|1.378000	0.46305|0.46305	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.453	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3		-2.009628	10	10	78	78			3	6.477819	6.477819	41	0.068182	0	0	0	1	0	3	41	0.068182	T	101541694	C	T	101541694	3	4	80	1	0	0	0	0	1	0	0	0	10563	536	19	1	125	1	NPAS2	2	101541694	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2092353	101541694	141657679	69	1584											
BUB1	699	broad.mit.edu	37	2	111413371	111413371	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:111413371C>T	ENST00000302759.6	-	16	1939	c.1821G>A	c.(1819-1821)gcG>gcA	p.A607A	BUB1_ENST00000409311.1_Silent_p.A607A|BUB1_ENST00000535254.1_Silent_p.A587A	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	607					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATGGTGTAGACGCAAGTTGTG	0.458																																						ENST00000535254.1											0			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(1759-1761)gcG>gcA	BUB1 mitotic checkpoint serine/threonine kinase						235	214	222					2																	111413371		2203	4300	6503	SO:0001819	synonymous_variant	699			apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111413371C>T	AF046078	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679	ENSG00000169679	ENSG00000169679				1148	1148	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602452	602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L				Standard	Standard	NM_004336	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	uc002tgc.3	O43683	O43683	OTTHUMG00000153638	OTTHUMG00000153638	ENST00000302759.6:c.1821G>A	2.37:g.111413371C>T			BUB1_ENST00000409311.1_Silent_p.A607A|BUB1_ENST00000302759.6_Silent_p.A607A	p.A587A	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	15	1828	-		Ovarian(717;0.0822)	607		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.1761G>A	CCDS33273.1																																																																																									0.458	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1		4.763951	27	27	145	145	NM_004336		10	23.066506	23.066506	99	0.091743	0	0	0	1	0	10	99	0.091743	T	111413371	C	T	111413371	2	4	80	1	0	0	0	0	0	0	0	1	1570	523	19	1		1	BUB1	2	111413371	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9871677	111413371	131786002	70	1585											
MERTK	10461	broad.mit.edu	37	2	112705055	112705055	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:112705055C>T	ENST00000295408.4	+	4	925	c.668C>T	c.(667-669)cCg>cTg	p.P223L	MERTK_ENST00000409780.1_Missense_Mutation_p.P47L|MERTK_ENST00000421804.2_Missense_Mutation_p.P223L			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	223	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCTGTGGGCCCGCCTGAGCCC	0.517																																						ENST00000295408.4											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(667-669)cCg>cTg	c-mer proto-oncogene tyrosine kinase						73	74	74					2																	112705055		2203	4300	6503	SO:0001583	missense	10461			cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112705055C>T	U08023	U08023	CCDS2094.1	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208	ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	7027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604705	604705	"c-mer proto-oncogene tyrosine kinase"		"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	8086340, 10343112	Standard	Standard	XM_005263565	XM_005263565		Approved	mer, RP38	uc002thk.1	uc002thk.1	Q12866	Q12866	OTTHUMG00000131278	OTTHUMG00000131278	ENST00000295408.4:c.668C>T	2.37:g.112705055C>T	ENSP00000295408:p.Pro223Leu		MERTK_ENST00000421804.2_Missense_Mutation_p.P223L|MERTK_ENST00000409780.1_Missense_Mutation_p.P47L	p.P223L			Q12866	MERTK_HUMAN			4	925	+			223	Ig-like C2-type 2.	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.668C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590406	0.86851	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.12361	2.69;2.69;2.69	5.24	5.24	0.73138	5.24	5.24	0.73138	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33290	U	0.005068	T	0.35158	0.0922	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03344	-1.1046	10	0.87932	D	0	-21.076	18.7692	0.91883	0.0:1.0:0.0:0.0	.	223	Q12866	MERTK_HUMAN	L	223;223;47	ENSP00000295408:P223L;ENSP00000389152:P223L;ENSP00000387277:P47L	ENSP00000295408:P223L	P	+	2	0	0	MERTK	112421526	112421526	0.999000	0.42202	0.956000	0.39512	0.909000	0.53808	5.740000	0.68629	2.608000	0.88229	0.655000	0.94253	CCG		0.517	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		77.766914	-13	-13	56	56			25	77.866011	77.866011	30	0.454545	0	0	0	1	0	25	30	0.454545	T	112705055	C	T	112705055	3	4	80	1	0	0	0	0	1	0	0	0	9479	652	23	1	682	1	MERTK	2	112705055	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1291684	112705055	130494318	71	1586											
PSD4	23550	broad.mit.edu	37	2	113940791	113940791	+	Missense_Mutation	SNP	C	C	T	rs201700173		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:113940791C>T	ENST00000245796.6	+	2	953	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PSD4_ENST00000441564.3_Missense_Mutation_p.A253V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	253					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCTTCCTGGCGAGTCCTTGC	0.602																																						ENST00000441564.3											0			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(757-759)gCg>gTg	pleckstrin and Sec7 domain containing 4						95	94	95					2																	113940791		2203	4300	6503	SO:0001583	missense	23550			regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940791C>T	U63127	U63127	CCDS33276.1	CCDS33276.1	2q13	2013-01-10			2013-01-10			ENSG00000125637	ENSG00000125637	ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	19096	19096	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614442	614442						12082148	12082148	Standard	Standard	XM_005263634	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	uc002tjc.3	Q8NDX1	Q8NDX1	OTTHUMG00000153339	OTTHUMG00000153339	ENST00000245796.6:c.758C>T	2.37:g.113940791C>T	ENSP00000245796:p.Ala253Val		PSD4_ENST00000245796.6_Missense_Mutation_p.A253V	p.A253V			Q8NDX1	PSD4_HUMAN			2	927	+					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.758C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647658	0.47258	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10288	2.91;2.89	5.83	3.32	0.38043	5.83	3.32	0.38043	.	0.513843	0.20444	N	0.092229	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.04013	0.001;0.0	T	0.40813	-0.9543	9	.	.	.	.	6.2159	0.20656	0.7554:0.1613:0.0832:0.0	.	253;253	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	V	253	ENSP00000245796:A253V;ENSP00000413997:A253V	.	A	+	2	0	0	PSD4	113657262	113657262	0.994000	0.37717	0.950000	0.38849	0.725000	0.41563	1.595000	0.36708	0.462000	0.27095	-1.139000	0.01908	GCG		0.602	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1		56.247712	9	9	69	69	NM_012455		18	56.270585	56.270585	20	0.473684	0	0	0	1	0	18	20	0.473684	T	113940791	C	T	113940791	3	4	80	1	0	0	0	0	1	0	0	0	12649	768	27	1	760	1	PSD4	2	113940791	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1235736	113940791	129258582	72	1587											
CNTNAP5	129684	broad.mit.edu	37	2	125204489	125204489	+	Missense_Mutation	SNP	C	C	T	rs375042758		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:125204489C>T	ENST00000431078.1	+	6	1257	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	298	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T298M(1)		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)		AAGGGCGAGACGGATGCCTTA	0.557																																						ENST00000431078.1											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	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						c.(892-894)aCg>aTg	contactin associated protein-like 5	C	MET/THR	0,4336		0,0,2168	107	112	110		893	4.8	0	2		110	1,8551		0,1,4275	no	missense	CNTNAP5	NM_130773.2	81	0,1,6443	TT,TC,CC		0.0117,0.0,0.0078	possibly-damaging	298/1307	125204489	1,12887	2168	4276	6444	SO:0001583	missense	129684			cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204489C>T	AB077881	AB077881	CCDS46401.1	CCDS46401.1	2q14.1	2008-02-05			2008-02-05			ENSG00000155052	ENSG00000155052	ENSG00000155052	ENSG00000155052				18748	18748	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610519	610519								Standard	Standard	NM_130773	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	uc002tno.3	Q8WYK1	Q8WYK1	OTTHUMG00000153356	OTTHUMG00000153356	ENST00000431078.1:c.893C>T	2.37:g.125204489C>T	ENSP00000399013:p.Thr298Met			p.T298M	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1257	+			298	Laminin G-like 1.	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.893C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791954	0.50102	0.0	1.17E-4	ENSG00000155052	ENST00000431078	T	0.78126	-1.15	5.78	4.85	0.62838	5.78	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.424939	0.19905	N	0.103430	T	0.77772	0.4180	L	0.40543	1.245	0.20196	N	0.999928	P	0.41450	0.75	P	0.47528	0.549	T	0.72564	-0.4255	10	0.62326	D	0.03	.	16.6118	0.84885	0.0:0.8704:0.1296:0.0	.	298	Q8WYK1	CNTP5_HUMAN	M	298	ENSP00000399013:T298M	ENSP00000399013:T298M	T	+	2	0	0	CNTNAP5	124920959	124920959	0.987000	0.35691	0.028000	0.17463	0.881000	0.50899	3.600000	0.54052	2.894000	0.99253	0.655000	0.94253	ACG		0.557	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		34.189485	1	1	50	50			12	34.952978	34.952978	23	0.342857	0	0	0	1	0	12	23	0.342857	T	125204489	C	T	125204489	3	4	80	1	0	0	0	0	1	0	0	0	3650	536	19	1	915	1	CNTNAP5	2	125204489	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	11263698	125204489	117994884	73	1588											
IMP4	92856	broad.mit.edu	37	2	131103363	131103363	+	Missense_Mutation	SNP	G	G	A	rs11542413		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:131103363G>A	ENST00000259239.3	+	6	1159	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	IMP4_ENST00000409935.1_Missense_Mutation_p.V151I	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	151	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GGGGCTCATCGTCAGCCACCT	0.647													G|||	1	0.000199681	0	0.0014	5008	,	,		17950	0		0	False		,,,				2504	0					ENST00000259239.3											0			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18						c.(451-453)Gtc>Atc	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)						93	91	92					2																	131103363		2203	4300	6503	SO:0001583	missense	92856			rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131103363G>A	BC010042	BC010042	CCDS2160.1	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718	ENSG00000136718	ENSG00000136718				30856	30856	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612981	612981	"IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"		"IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"			8619474, 9110174, 12655004	8619474, 9110174, 12655004	Standard	Standard	NM_033416	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	uc002tra.1	Q96G21	Q96G21	OTTHUMG00000131627	OTTHUMG00000131627	ENST00000259239.3:c.451G>A	2.37:g.131103363G>A	ENSP00000259239:p.Val151Ile		IMP4_ENST00000409935.1_Missense_Mutation_p.V151I	p.V151I	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN			6	1159	+	Colorectal(110;0.1)		151	Brix.	Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.451G>A	CCDS2160.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.80	2.047974	0.36085	.	.	ENSG00000136718	ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.18	3.39	0.38822	5.18	3.39	0.38822	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	N	0.08118	0	0.54753	D	0.99998	B	0.26975	0.165	B	0.28011	0.085	T	0.04708	-1.0932	10	0.09338	T	0.73	-35.085	9.9151	0.41430	0.1672:0.0:0.8328:0.0	rs11542413	151	Q96G21	IMP4_HUMAN	I	151;151;66;96	ENSP00000259239:V151I;ENSP00000386411:V151I;ENSP00000386716:V66I;ENSP00000389701:V96I	ENSP00000259239:V151I	V	+	1	0	0	IMP4	130819833	130819833	0.995000	0.38212	0.998000	0.56505	0.981000	0.71138	2.231000	0.43009	0.701000	0.31803	-0.123000	0.14984	GTC		0.647	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2		76.502618	-6	-6	66	66	NM_033416		24	76.581633	76.581633	20	0.545455	0	0	0	1	0	24	20	0.545455	A	131103363	G	A	131103363	3	1	80	1	0	0	0	0	1	0	0	0	7720	1145	40	1	473	1	IMP4	2	131103363	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5898874	131103363	112096010	74	1589											
YSK4	80122	broad.mit.edu	37	2	135738851	135738851	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:135738851G>A	ENST00000375845.3	-	9	3490	c.3460C>T	c.(3460-3462)Cgt>Tgt	p.R1154C	MAP3K19_ENST00000315513.3_Missense_Mutation_p.R15C|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R336C|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R1041C|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R288C|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R286C	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GGCCCAAAACGGTTTATAATA	0.418																																						ENST00000375845.3											0										c.(3460-3462)Cgt>Tgt	mitogen-activated protein kinase kinase kinase 19						120	118	119					2																	135738851		2203	4300	6503	SO:0001583	missense	80122						g.chr2:135738851G>A	AK026727	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	26249	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4	"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	12477932	Standard	Standard	NM_001282883	NM_001282883		Approved	FLJ23074	uc002tue.1	uc002tue.1	Q56UN5	Q56UN5	OTTHUMG00000074083	OTTHUMG00000074083	ENST00000375845.3:c.3460C>T	2.37:g.135738851G>A	ENSP00000365005:p.Arg1154Cys		MAP3K19_ENST00000392918.3_Missense_Mutation_p.R288C|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R286C|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R336C|MAP3K19_ENST00000315513.3_Missense_Mutation_p.R15C|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R1041C	p.R1154C	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3					9	3490	-					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3460C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441430	0.63067	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.75	5.75	0.90469	5.75	5.75	0.90469	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	0.47093	D	0.000250	D	0.86272	0.5893	M	0.91354	3.2	0.46798	D	0.999206	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.981;0.996;0.99;0.99;0.999	D	0.88535	0.3105	10	0.72032	D	0.01	.	18.9458	0.92621	0.0:0.0:1.0:0.0	.	286;1041;288;336;1154	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	C	1154;1041;336;288;286;544;15	ENSP00000365005:R1154C;ENSP00000351140:R1041C;ENSP00000365004:R336C;ENSP00000376650:R288C;ENSP00000376649:R286C;ENSP00000392827:R544C;ENSP00000321160:R15C	ENSP00000321160:R15C	R	-	1	0	0	YSK4	135455321	135455321	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	4.931000	0.63469	2.714000	0.92807	0.563000	0.77884	CGT		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1		143.703909	-39	-39	98	98	NM_025052		44	143.727027	143.727027	41	0.517647	0	0	0	1	0	44	41	0.517647	A	135738851	G	A	135738851	3	1	80	1	0	0	0	0	1	0	0	0	17492	1116	39	1	534	1	YSK4	2	135738851	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4635488	135738851	107460522	75	1590											
NEB	4703	broad.mit.edu	37	2	152348986	152348986	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:152348986C>T	ENST00000172853.10	-	144	19367	c.19220G>A	c.(19219-19221)cGg>cAg	p.R6407Q	NEB_ENST00000427231.2_Missense_Mutation_p.R8263Q|NEB_ENST00000409198.1_Missense_Mutation_p.R6407Q|NEB_ENST00000603639.1_Missense_Mutation_p.R8263Q|NEB_ENST00000397336.2_Missense_Mutation_p.R238Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.R8263Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000604864.1_Missense_Mutation_p.R8263Q|NEB_ENST00000509223.2_Missense_Mutation_p.R176Q			P20929	NEBU_HUMAN	nebulin	6407					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)		TATTTGTTTCCGGAAACTATC	0.483																																						ENST00000427231.2											0			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						c.(24787-24789)cGg>cAg	nebulin						84	87	86					2																	152348986		1878	4113	5991	SO:0001583	missense	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.chr2:152348986C>T	X83957	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			2014-09-17			ENSG00000183091	ENSG00000183091	ENSG00000183091	ENSG00000183091				7720	7720	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	"nemaline myopathy type 2"	161650	161650		NEM2		NEM2		10051637, 9359044	10051637, 9359044	Standard	Standard	NM_001164507	NM_001164507		Approved	NEB177D	uc010fnx.3	uc010fnx.3	P20929	P20929	OTTHUMG00000153784	OTTHUMG00000153784	ENST00000172853.10:c.19220G>A	2.37:g.152348986C>T	ENSP00000172853:p.Arg6407Gln		NEB_ENST00000509223.2_Missense_Mutation_p.R176Q|NEB_ENST00000397336.2_Missense_Mutation_p.R238Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000172853.10_Missense_Mutation_p.R6407Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.R8263Q|NEB_ENST00000409198.1_Missense_Mutation_p.R6407Q|NEB_ENST00000397345.3_Missense_Mutation_p.R8263Q|NEB_ENST00000604864.1_Missense_Mutation_p.R8263Q	p.R8263Q	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	177	24990	-			6573		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.24788G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423854|5.423854	0.96111|0.96111	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	.|T;T;T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.63|5.63	5.63|5.63	0.86233|0.86233	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.176577	.|0.50627	.|D	.|0.000120	T|T	0.59418|0.59418	0.2192|0.2192	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;D;P;D;P;D	.|0.76494	.|0.999;0.996;0.9;0.999;0.95;0.995	.|D;D;B;D;B;D	.|0.80764	.|0.994;0.939;0.362;0.948;0.316;0.935	T|T	0.52931|0.52931	-0.8509|-0.8509	5|10	.|0.35671	.|T	.|0.21	.|.	19.2633|19.2633	0.93977|0.93977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|176;238;176;6407;2745;8263	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	R|Q	397;504|6407;8263;8263;2363;2745;6407;238;176	.|ENSP00000386259:R6407Q;ENSP00000380505:R8263Q;ENSP00000416578:R8263Q;ENSP00000410961:R2745Q;ENSP00000172853:R6407Q;ENSP00000380497:R238Q;ENSP00000427083:R176Q	.|ENSP00000172853:R6407Q	G|R	-|-	1|2	0|0	0|0	NEB|NEB	152057232|152057232	152057232|152057232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding			33.925825	-33	-33	75	75	NM_004543		14	38.77704	38.77704	51	0.215385	0	0	0	1	0	14	51	0.215385	T	152348986	C	T	152348986	3	4	80	1	0	0	0	0	1	0	0	0	10302	652	23	1	813	1	NEB	2	152348986	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	16610135	152348986	90850387	76	1591											
DPP4	1803	ucsc.edu	37	2	162877139	162877139	+	Missense_Mutation	SNP	G	G	T	rs199672034	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:162877139G>T	ENST00000360534.3	-	13	1688	c.1128C>A	c.(1126-1128)agC>agA	p.S376R		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	376					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CTTCTTCATTGCTGATGATCT	0.308																																																	0																	78	78	78					2																	162877139		2203	4300	6503	SO:0001583	missense	1803							M74777	M74777	CCDS2216.1	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	"CD molecules"	3009	3009	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			102720	102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	8101391	Standard	Standard	NM_001935	NM_001935		Approved	DPPIV	uc002ubz.3	uc002ubz.3	P27487	P27487	OTTHUMG00000132056	OTTHUMG00000132056	ENST00000360534.3:c.1128C>A	2.37:g.162877139G>T	ENSP00000353731:p.Ser376Arg																	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37		CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547277	0.65311	.	.	ENSG00000197635	ENST00000360534	T	0.31247	1.5	5.65	3.54	0.40534	5.65	3.54	0.40534	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.83312	2.635	0.58432	D	0.999998	D	0.76494	0.999	D	0.66497	0.944	T	0.56214	-0.8016	10	0.66056	D	0.02	-20.0859	9.8978	0.41329	0.2547:0.0:0.7453:0.0	.	376	P27487	DPP4_HUMAN	R	376	ENSP00000353731:S376R	ENSP00000353731:S376R	S	-	3	2	2	DPP4	162585385	162585385	0.878000	0.30173	0.917000	0.36280	0.974000	0.67602	0.372000	0.20467	0.755000	0.32990	0.655000	0.94253	AGC		0.308	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			1	1	42	42			4			33							4	33		T	162877139	G	T	162877139	3	4	80	1	0	0	0	0	1	0	0	0	4729	1310	46	5	1228	5	DPP4	2	162877139	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	10528153	162877139	80322234	77	1592											
SCN2A	6326	broad.mit.edu	37	2	166210904	166210904	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:166210904C>T	ENST00000375437.2	+	17	3412	c.3122C>T	c.(3121-3123)cCg>cTg	p.P1041L	SCN2A_ENST00000283256.6_Missense_Mutation_p.P1041L|SCN2A_ENST00000357398.3_Missense_Mutation_p.P1041L|SCN2A_ENST00000375427.2_Missense_Mutation_p.P1041L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1041					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAAATTAAACCGCTTGAAGAT	0.338																																						ENST00000375437.2											0			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3121-3123)cCg>cTg	sodium channel, voltage-gated, type II, alpha subunit						66	72	70					2																	166210904		2202	4300	6502	SO:0001583	missense	6326			myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166210904C>T	AB208888	AB208888	CCDS33313.1, CCDS33314.1	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	10588	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			182390	182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	1317301, 16382098	Standard	Standard	XM_005246753	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	uc002ude.3	Q99250	Q99250	OTTHUMG00000044172	OTTHUMG00000044172	ENST00000375437.2:c.3122C>T	2.37:g.166210904C>T	ENSP00000364586:p.Pro1041Leu		SCN2A_ENST00000375427.2_Missense_Mutation_p.P1041L|SCN2A_ENST00000283256.6_Missense_Mutation_p.P1041L|SCN2A_ENST00000357398.3_Missense_Mutation_p.P1041L	p.P1041L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			17	3412	+			1041		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3122C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602897	0.46423	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.5	5.5	0.81552	5.5	5.5	0.81552	Sodium ion transport-associated (1);	1.448160	0.04529	N	0.386002	D	0.83811	0.5335	M	0.63428	1.95	0.58432	D	0.999999	B;P	0.34826	0.008;0.471	B;B	0.32624	0.006;0.149	T	0.70995	-0.4720	10	0.56958	D	0.05	.	14.2513	0.66021	0.1491:0.8509:0.0:0.0	.	1041;1041	Q99250-2;Q99250	.;SCN2A_HUMAN	L	1041	ENSP00000364586:P1041L;ENSP00000349973:P1041L;ENSP00000283256:P1041L;ENSP00000364576:P1041L	ENSP00000283256:P1041L	P	+	2	0	0	SCN2A	165919150	165919150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.659000	0.61504	2.563000	0.86464	0.591000	0.81541	CCG		0.338	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		14.398858	6	6	64	64	NM_021007		7	18.822936	18.822936	35	0.166667	0	0	0	1	0	7	35	0.166667	T	166210904	C	T	166210904	3	4	80	1	0	0	0	0	1	0	0	0	13916	652	23	1	3280	1	SCN2A	2	166210904	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3333765	166210904	76988469	78	1593											
LRP2	4036	broad.mit.edu	37	2	170012798	170012798	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:170012798C>T	ENST00000263816.3	-	65	12422	c.12137G>A	c.(12136-12138)cGa>cAa	p.R4046Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4046	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGCTGCACATCGTTTTCCAGG	0.438																																						ENST00000263816.3											0			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(12136-12138)cGa>cAa	low density lipoprotein receptor-related protein 2						166	155	159					2																	170012798		2203	4300	6503	SO:0001583	missense	4036			hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170012798C>T			CCDS2232.1	CCDS2232.1	2q31.1	2013-05-28	2010-01-26		2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	"Low density lipoprotein receptors"	6694	6694	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"megalin"	"megalin"	600073	600073						7959795	7959795	Standard	Standard	NM_004525	NM_004525		Approved	gp330, DBS	uc002ues.3	uc002ues.3	P98164	P98164	OTTHUMG00000132179	OTTHUMG00000132179	ENST00000263816.3:c.12137G>A	2.37:g.170012798C>T	ENSP00000263816:p.Arg4046Gln			p.R4046Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	65	12422	-			4046	EGF-like 15; calcium-binding (Potential).	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12137G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	8.986	0.976503	0.18736	.	.	ENSG00000081479	ENST00000263816	D	0.89196	-2.48	5.77	3.61	0.41365	5.77	3.61	0.41365	Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.168923	0.52532	N	0.000062	T	0.73313	0.3571	N	0.14661	0.345	0.80722	D	1	B	0.26041	0.14	B	0.20384	0.029	T	0.64228	-0.6457	10	0.13470	T	0.59	.	4.4745	0.11729	0.0:0.5775:0.0:0.4225	.	4046	P98164	LRP2_HUMAN	Q	4046	ENSP00000263816:R4046Q	ENSP00000263816:R4046Q	R	-	2	0	0	LRP2	169721044	169721044	0.989000	0.36119	0.832000	0.32986	0.321000	0.28281	2.561000	0.45905	1.571000	0.49722	0.655000	0.94253	CGA		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		6.050122	-5	-5	98	98	NM_004525		7	15.065544	15.065544	54	0.114754	0	0	0	1	0	7	54	0.114754	T	170012798	C	T	170012798	3	4	80	1	0	0	0	0	1	0	0	0	8956	884	31	1	1890	1	LRP2	2	170012798	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3801894	170012798	73186575	79	1594											
KBTBD10	10324	broad.mit.edu	37	2	170366495	170366495	+	Silent	SNP	G	G	A	rs373592757		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:170366495G>A	ENST00000284669.1	+	1	284	c.207G>A	c.(205-207)gcG>gcA	p.A69A	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TTGATGAGGCGAAAAAAAAGG	0.393																																						ENST00000284669.1											0										c.(205-207)gcG>gcA	kelch-like family member 41	G		1,4405	4.2+/-10.8	0,1,2202	147	146	146		207	1.1	0.5	2		146	0,8600		0,0,4300	no	coding-synonymous	KBTBD10	NM_006063.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		69/607	170366495	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10324						g.chr2:170366495G>A	AF056929	AF056929	CCDS2234.1	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	"Kelch-like", "BTB/POZ domain containing"	16905	16905	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	"sarcomeric muscle protein"	607701	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	9655184	Standard	Standard	NM_006063	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	uc002ueu.1	O60662	O60662	OTTHUMG00000132205	OTTHUMG00000132205	ENST00000284669.1:c.207G>A	2.37:g.170366495G>A			BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.A69A	NM_006063.2	NP_006054.2					1	284	+					Q53R42	Silent	SNP	ENST00000284669.1	37	c.207G>A	CCDS2234.1																																																																																									0.393	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1		26.755787	-8	-8	109	109	NM_006063		15	39.19459	39.19459	88	0.145631	0	0	0	1	0	15	88	0.145631	A	170366495	G	A	170366495	2	1	80	1	0	0	0	0	0	0	0	1	7990	1045	37	1		1	KBTBD10	2	170366495	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	353697	170366495	72832878	80	1595											
MYO3B	140469	broad.mit.edu	37	2	171371513	171371513	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:171371513C>T	ENST00000408978.4	+	29	3596	c.3453C>T	c.(3451-3453)agC>agT	p.S1151S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.S1124S|MYO3B_ENST00000334231.6_Silent_p.S1160S	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1151					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGACTGCAGCGAGCCTGGTG	0.507																																						ENST00000334231.6											0			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(3478-3480)agC>agT	myosin IIIB						79	80	80					2																	171371513		1930	4135	6065	SO:0001819	synonymous_variant	140469			response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171371513C>T			CCDS42773.1, CCDS46446.1	CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			2011-09-27			ENSG00000071909	ENSG00000071909	ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	"Myosins / Myosin superfamily : Class III"	15576	15576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610040	610040								Standard	Standard	NM_001083615	NM_001083615		Approved		uc002ufy.3	uc002ufy.3	Q8WXR4	Q8WXR4	OTTHUMG00000154002	OTTHUMG00000154002	ENST00000408978.4:c.3453C>T	2.37:g.171371513C>T			MYO3B_ENST00000409044.3_Silent_p.S1124S|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.S1151S	p.S1160S			Q8WXR4	MYO3B_HUMAN			29	3480	+			1151		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.3480C>T	CCDS42773.1																																																																																									0.507	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		10.157354	2	2	29	29			5	13.097255	13.097255	24	0.172414	0	0	0	1	0	5	24	0.172414	T	171371513	C	T	171371513	2	4	80	1	0	0	0	0	0	0	0	1	10077	767	27	1		1	MYO3B	2	171371513	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1005018	171371513	71827860	81	1596											
SLC25A12	8604	broad.mit.edu	37	2	172641886	172641886	+	Silent	SNP	C	C	T	rs369901246		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:172641886C>T	ENST00000422440.2	-	18	1972	c.1935G>A	c.(1933-1935)acG>acA	p.T645T	SLC25A12_ENST00000392592.4_Silent_p.T538T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	645					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGCCTGCAAACGTGGCTGTGG	0.517																																						ENST00000422440.2											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1933-1935)acG>acA	solute carrier family 25 (aspartate/glutamate carrier), member 12	C		1,4405	2.1+/-5.4	0,1,2202	177	163	168		1935	0.7	1	2		168	0,8600		0,0,4300	no	coding-synonymous	SLC25A12	NM_003705.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		645/679	172641886	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8604			gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172641886C>T	Y14494	Y14494	CCDS33327.1	CCDS33327.1	2q24	2013-05-22	2012-03-29		2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840	ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	"Solute carriers", "EF-hand domain containing"	10982	10982	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603667	603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"		"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	9722566, 10702666, 11566871	Standard	Standard	NM_003705	NM_003705		Approved	Aralar	uc002uhh.3	uc002uhh.3	O75746	O75746	OTTHUMG00000134290	OTTHUMG00000134290	ENST00000422440.2:c.1935G>A	2.37:g.172641886C>T			SLC25A12_ENST00000392592.4_Silent_p.T538T	p.T645T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		18	1972	-			645		B3KR64|Q96AM8	Silent	SNP	ENST00000422440.2	37	c.1935G>A	CCDS33327.1																																																																																									0.517	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2		38.459041	18	18	99	99	NM_003705		16	44.152518	44.152518	59	0.213333	0	0	0	1	0	16	59	0.213333	T	172641886	C	T	172641886	2	4	80	1	0	0	0	0	0	0	0	1	14474	523	19	1		1	SLC25A12	2	172641886	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1270373	172641886	70557487	82	1597											
DLX2	1746	broad.mit.edu	37	2	172965648	172965648	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:172965648G>A	ENST00000234198.4	-	3	971	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	AC104801.1_ENST00000448117.1_lincRNA|DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	204					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AACTTGGACCGGCGGTTCTGG	0.542																																					GBM(188;775 2993 11256 23072)	ENST00000234198.4											0			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11						c.(610-612)Cgg>Tgg	distal-less homeobox 2						37	38	38					2																	172965648		2141	4151	6292	SO:0001583	missense	1746				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172965648G>A	U51003	U51003	CCDS2248.1	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844	ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	"Homeoboxes / ANTP class : NKL subclass"	2915	2915	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			126255	126255	"distal-less homeo box 2"		"distal-less homeo box 2"			1354641	1354641	Standard	Standard	NM_004405	NM_004405		Approved	TES-1	uc002uhn.3	uc002uhn.3	Q07687	Q07687	OTTHUMG00000132276	OTTHUMG00000132276	ENST00000234198.4:c.610C>T	2.37:g.172965648G>A	ENSP00000234198:p.Arg204Trp		DLX2_ENST00000466293.2_3'UTR	p.R204W	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	971	-			204		B4DMK4|B7ZA14	Missense_Mutation	SNP	ENST00000234198.4	37	c.610C>T	CCDS2248.1	.	.	.	.	.	.	.	.	.	.	g	25.5	4.648960	0.87958	.	.	ENSG00000115844	ENST00000234198	D	0.99167	-5.51	4.8	4.8	0.61643	4.8	4.8	0.61643	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98221	1.0478	10	0.87932	D	0	-15.7063	13.3491	0.60591	0.0:0.0:0.8413:0.1587	.	204	Q07687	DLX2_HUMAN	W	204	ENSP00000234198:R204W	ENSP00000234198:R204W	R	-	1	2	2	DLX2	172673894	172673894	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.497000	0.60367	2.196000	0.70406	0.457000	0.33378	CGG		0.542	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3		6.044595	-7	-7	47	47			5	12.030141	12.030141	37	0.119048	0	0	0	1	0	5	37	0.119048	A	172965648	G	A	172965648	3	1	80	1	0	0	0	0	1	0	0	0	4571	1115	39	1	380	1	DLX2	2	172965648	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	323762	172965648	70233725	83	1598											
TTN	7273	broad.mit.edu	37	2	179423251	179423251	+	Missense_Mutation	SNP	C	C	T	rs201687390		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:179423251C>T	ENST00000591111.1	-	277	82236	c.82012G>A	c.(82012-82014)Gtt>Att	p.V27338I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V28979I|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27338	Fibronectin type-III 99. {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)			AGTGCTTCAACGACATAGTGT	0.428																																						ENST00000589042.1											0			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						c.(86935-86937)Gtt>Att	titin	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,3790		0,2,1894	128	123	124		60316,60115,79231,59740	3	0.4	2		124	1,8267		0,1,4133	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,3,6027	TT,TC,CC		0.0121,0.0527,0.0249	benign,benign,benign,benign	20106/27119,20039/27052,26411/33424,19914/26927	179423251	3,12057	1896	4134	6030	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179423251C>T	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.82012G>A	2.37:g.179423251C>T	ENSP00000465570:p.Val27338Ile		TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN_ENST00000591111.1_Missense_Mutation_p.V27338I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000592600.1_RNA	p.V28979I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		327	87159	-			27338	Fibronectin type-III 111.	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.86935G>A		.	.	.	.	.	.	.	.	.	.	C	10.88	1.476783	0.26511	5.27E-4	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.76	2.97	0.34412	5.76	2.97	0.34412	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35422	0.0931	N	0.11560	0.145	0.28859	N	0.895597	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.28332	-1.0047	9	0.87932	D	0	.	5.8362	0.18609	0.0:0.5185:0.1253:0.3562	.	19914;20039;20106;27338	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	26411;19914;20106;20039;19911	ENSP00000343764:V26411I;ENSP00000434586:V19914I;ENSP00000340554:V20106I;ENSP00000352154:V20039I	ENSP00000340554:V20106I	V	-	1	0	0	TTN	179131497	179131497	0.146000	0.22672	0.395000	0.26283	0.920000	0.55202	0.712000	0.25779	0.432000	0.26286	0.655000	0.94253	GTT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		4.309415	-15	-15	32	32	NM_133378		3	7.127171	7.127171	19	0.136364	0	0	0	1	0	3	19	0.136364	T	179423251	C	T	179423251	3	4	80	1	0	0	0	0	1	0	0	0	16732	536	19	1	21188	1	TTN	2	179423251	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6457603	179423251	63776122	84	1599											
TTN	7273	broad.mit.edu	37	2	179431174	179431174	+	Missense_Mutation	SNP	C	C	T	rs538960023		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:179431174C>T	ENST00000591111.1	-	276	74986	c.74762G>A	c.(74761-74763)cGa>cAa	p.R24921Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R26562Q|TTN_ENST00000342992.6_Missense_Mutation_p.R23994Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17497Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17689Q|TTN_ENST00000359218.5_Missense_Mutation_p.R17622Q|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24921	Fibronectin type-III 81. {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)			GGCACAGACTCGTATTTTATA	0.423													C|||	1	0.000199681	0	0	5008	,	,		20530	0		0	False		,,,				2504	0.001					ENST00000589042.1											0			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						c.(79684-79686)cGa>cAa	titin						144	145	144					2																	179431174		1921	4121	6042	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431174C>T	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.74762G>A	2.37:g.179431174C>T	ENSP00000465570:p.Arg24921Gln		TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17689Q|TTN_ENST00000359218.5_Missense_Mutation_p.R17622Q|TTN_ENST00000591111.1_Missense_Mutation_p.R24921Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23994Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17497Q|TTN-AS1_ENST00000592600.1_RNA	p.R26562Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79909	-			24921	Fibronectin type-III 93.	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.79685G>A		.	.	.	.	.	.	.	.	.	.	C	16.82	3.227950	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.92	5.92	0.95590	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71508	0.3348	M	0.74546	2.27	0.51767	D	0.99993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.72603	-0.4243	9	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	17497;17622;17689;24921	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	23994;17497;17689;17622;17495	ENSP00000343764:R23994Q;ENSP00000434586:R17497Q;ENSP00000340554:R17689Q;ENSP00000352154:R17622Q	ENSP00000340554:R17689Q	R	-	2	0	0	TTN	179139420	179139420	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.917000	0.56424	2.813000	0.96785	0.561000	0.74099	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		73.882082	-22	-22	135	135	NM_133378		27	78.81797	78.81797	74	0.267327	0	0	0	1	0	27	74	0.267327	T	179431174	C	T	179431174	3	4	80	1	0	0	0	0	1	0	0	0	16732	884	31	1	28442	1	TTN	2	179431174	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7923	179431174	63768199	85	1600											
TTN	7273	broad.mit.edu	37	2	179634804	179634804	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:179634804G>A	ENST00000591111.1	-	36	8848	c.8624C>T	c.(8623-8625)gCa>gTa	p.A2875V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A2875V|TTN_ENST00000342992.6_Missense_Mutation_p.A2875V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A2875V|TTN_ENST00000460472.2_Missense_Mutation_p.A2829V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2829V|TTN_ENST00000359218.5_Missense_Mutation_p.A2829V			Q8WZ42	TITIN_HUMAN	titin	13203					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)			AAACAGTTTTGCTTTGCATTC	0.458																																						ENST00000589042.1											0			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						c.(8623-8625)gCa>gTa	titin						151	142	145					2																	179634804		2203	4300	6503	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634804G>A	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.8624C>T	2.37:g.179634804G>A	ENSP00000465570:p.Ala2875Val		TTN_ENST00000360870.5_Missense_Mutation_p.A2875V|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2829V|TTN_ENST00000359218.5_Missense_Mutation_p.A2829V|TTN_ENST00000591111.1_Missense_Mutation_p.A2875V|TTN_ENST00000342992.6_Missense_Mutation_p.A2875V|TTN_ENST00000460472.2_Missense_Mutation_p.A2829V	p.A2875V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	8848	-			2613		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.8624C>T		.	.	.	.	.	.	.	.	.	.	G	15.74	2.922487	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	6.06	6.06	0.98353	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87220	0.6123	M	0.92268	3.29	0.46954	D	0.999265	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	D	0.88851	0.3319	9	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	2829;2829;2829;2875;2875	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2875;2829;2829;2829;2829;2875	ENSP00000343764:A2875V;ENSP00000434586:A2829V;ENSP00000340554:A2829V;ENSP00000352154:A2829V;ENSP00000354117:A2875V	ENSP00000340554:A2829V	A	-	2	0	0	TTN	179343049	179343049	1.000000	0.71417	0.972000	0.41901	0.768000	0.43524	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	GCA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		100.735809	-4	-4	117	117	NM_133378		34	100.739161	100.739161	35	0.492754	0	0	0	1	0	34	35	0.492754	A	179634804	G	A	179634804	3	1	80	1	0	0	0	0	1	0	0	0	16732	1319	46	2	102672	2	TTN	2	179634804	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	203630	179634804	63564569	86	1601											
DNAH7	56171	broad.mit.edu	37	2	196788444	196788444	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:196788444C>T	ENST00000312428.6	-	23	3800	c.3700G>A	c.(3700-3702)Gta>Ata	p.V1234I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1234	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.V1234L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCCAGAGTTACGCGATTCTGC	0.398																																						ENST00000312428.6											1	Substitution - Missense(1)	lung(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3700-3702)Gta>Ata	dynein, axonemal, heavy chain 7						122	113	116					2																	196788444		1972	4163	6135	SO:0001583	missense	56171			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788444C>T	AF327442	AF327442	CCDS42794.1	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997	ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	"Axonemal dyneins", "EF-hand domain containing"	18661	18661	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610061	610061	"dynein, axonemal, heavy polypeptide 7"		"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	9373155, 11877439	Standard	Standard	NM_018897	NM_018897		Approved	KIAA0944	uc002utj.4	uc002utj.4	Q8WXX0	Q8WXX0	OTTHUMG00000154438	OTTHUMG00000154438	ENST00000312428.6:c.3700G>A	2.37:g.196788444C>T	ENSP00000311273:p.Val1234Ile			p.V1234I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3800	-			1234	Stem (By similarity).	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.3700G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	1.908	-0.451426	0.04572	.	.	ENSG00000118997	ENST00000312428	T	0.54675	0.56	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.31040	0.0784	N	0.05330	-0.07	0.80722	D	1	B	0.20780	0.048	B	0.14578	0.011	T	0.26815	-1.0092	10	0.02654	T	1	.	18.7284	0.91724	0.0:1.0:0.0:0.0	.	1234	Q8WXX0	DYH7_HUMAN	I	1234	ENSP00000311273:V1234I	ENSP00000311273:V1234I	V	-	1	0	0	DNAH7	196496689	196496689	1.000000	0.71417	0.995000	0.50966	0.235000	0.25334	5.690000	0.68241	2.494000	0.84150	0.655000	0.94253	GTA		0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		27.965860	-32	-32	56	56	NM_018897		12	33.19208	33.19208	49	0.196721	0	0	0	1	0	12	49	0.196721	T	196788444	C	T	196788444	3	4	80	1	0	0	0	0	1	0	0	0	4606	536	19	1	8546	1	DNAH7	2	196788444	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	17153640	196788444	46410929	87	1602											
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(5)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)Cgt>Tgt	splicing factor 3b, subunit 1, 155kDa						93	90	91					2																	198267484		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"splicing factor 3b, subunit 1, 155kD"		"splicing factor 3b, subunit 1, 155kD"			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys			p.R625C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1964	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	0	SF3B1	197975729	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		59.951155	4	4	58	58			18	59.951155	59.951155	18	0.5	0	0	0	1	0	18	18	0.5	A	198267484	G	A	198267484	3	1	80	1	0	0	0	0	1	0	0	0	14149	1116	39	1	2089	1	SF3B1	2	198267484	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1479040	198267484	44931889	88	1603											
PLCL1	5334	broad.mit.edu	37	2	198948757	198948757	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:198948757G>A	ENST00000428675.1	+	2	914	c.516G>A	c.(514-516)acG>acA	p.T172T	PLCL1_ENST00000437704.2_Silent_p.T74T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	172	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T74T(2)|p.T172T(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGAAAAACACGGAAACATTTA	0.463																																						ENST00000428675.1											4	Substitution - coding silent(4)	lung(4)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(514-516)acG>acA	phospholipase C-like 1						115	121	119					2																	198948757		2203	4300	6503	SO:0001819	synonymous_variant	5334			intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948757G>A	D42108	D42108	CCDS2326.1, CCDS2326.2	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896	ENSG00000115896	ENSG00000115896				9063	9063	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	600597	"phospholipase C, epsilon"	PLCE	"phospholipase C, epsilon"	PLCE		7633416	7633416	Standard	Standard	NM_006226	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	uc010fsp.3	Q15111	Q15111	OTTHUMG00000132750	OTTHUMG00000132750	ENST00000428675.1:c.516G>A	2.37:g.198948757G>A			PLCL1_ENST00000437704.2_Silent_p.T74T	p.T172T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	914	+			172	Interaction with PPP1C.|PH.	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.516G>A	CCDS2326.2																																																																																									0.463	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1		95.173145	0	0	86	86	NM_006226		29	95.205099	95.205099	32	0.47541	0	0	0	1	0	29	32	0.47541	A	198948757	G	A	198948757	2	1	80	1	0	0	0	0	0	0	0	1	12039	1103	39	1		1	PLCL1	2	198948757	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	681273	198948757	44250616	89	1604											
AOX1	316	broad.mit.edu	37	2	201478596	201478596	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:201478596G>A	ENST00000374700.2	+	15	1759	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	506					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTTTGGGCTCGGCGCCAGGTG	0.473																																						ENST00000374700.2											0			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1516-1518)tcG>tcA	aldehyde oxidase 1						94	90	92					2																	201478596		2203	4300	6503	SO:0001819	synonymous_variant	316			inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478596G>A	AF017060	AF017060	CCDS33360.1	CCDS33360.1	2q33	2008-05-20			2008-05-20			ENSG00000138356	ENSG00000138356	ENSG00000138356	ENSG00000138356				553	553	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602841	602841						7570184	7570184	Standard	Standard	NM_001159	NM_001159		Approved	AO, AOH1	uc002uvx.3	uc002uvx.3	Q06278	Q06278	OTTHUMG00000154536	OTTHUMG00000154536	ENST00000374700.2:c.1518G>A	2.37:g.201478596G>A			AOX1_ENST00000485106.1_3'UTR	p.S506S	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			15	1759	+			506		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1518G>A	CCDS33360.1																																																																																									0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1		-1.911030	6	6	57	57	NM_001159		3	6.846842	6.846842	42	0.066667	0	0	0	1	0	3	42	0.066667	A	201478596	G	A	201478596	2	1	80	1	0	0	0	0	0	0	0	1	729	1103	39	1		1	AOX1	2	201478596	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2529839	201478596	41720777	90	1605											
PLEKHM3	389072	broad.mit.edu	37	2	208795810	208795810	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:208795810C>T	ENST00000427836.2	-	5	2215	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.V576M|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.V576M	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	576					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTCGTACACGTACTCCAGA	0.602																																						ENST00000457206.1											0			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1726-1728)Gtg>Atg	pleckstrin homology domain containing, family M, member 3						71	76	74					2																	208795810		2051	4204	6255	SO:0001583	missense	389072			intracellular signal transduction		metal ion binding	g.chr2:208795810C>T	AK057612	AK057612	CCDS42808.1	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	34006	34006	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"differentiation associated protein"	"differentiation associated protein"			"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L	"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	19028694	Standard	Standard	NM_001080475	NM_001080475		Approved	DAPR	uc002vcl.2	uc002vcl.2	Q6ZWE6	Q6ZWE6	OTTHUMG00000154781	OTTHUMG00000154781	ENST00000427836.2:c.1726G>A	2.37:g.208795810C>T	ENSP00000417003:p.Val576Met		PLEKHM3_ENST00000427836.2_Missense_Mutation_p.V576M|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.V576M	p.V576M			Q6ZWE6	PKHM3_HUMAN			5	2153	-			576		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1726G>A	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.377049|4.377049	0.82682|0.82682	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206	.|D;D;D	.|0.84516	.|-1.85;-1.86;-1.84	5.79|5.79	5.79|5.79	0.91817|0.91817	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87438|0.87438	0.6177|0.6177	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.85130	.|0.966;0.997	D|D	0.87789|0.87789	0.2617|0.2617	5|10	.|0.45353	.|T	.|0.12	.|.	20.0292|20.0292	0.97532|0.97532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|576;576	.|C9J119;Q6ZWE6	.|.;PKHM3_HUMAN	H|M	327|576	.|ENSP00000417003:V576M;ENSP00000373899:V576M;ENSP00000400150:V576M	.|ENSP00000373899:V576M	R|V	-|-	2|1	0|0	0|0	PLEKHM3|PLEKHM3	208504055|208504055	208504055|208504055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	4.887000|4.887000	0.63156|0.63156	2.740000|2.740000	0.93945|0.93945	0.460000|0.460000	0.39030|0.39030	CGT|GTG		0.602	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1		38.730865	-21	-21	78	78	NM_001080475		14	40.905231	40.905231	36	0.28	0	0	0	1	0	14	36	0.28	T	208795810	C	T	208795810	3	4	80	1	0	0	0	0	1	0	0	0	12082	536	19	1	575	1	PLEKHM3	2	208795810	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7317214	208795810	34403563	91	1606											
MAP2	4133	broad.mit.edu	37	2	210559486	210559486	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:210559486C>T	ENST00000360351.4	+	7	3098	c.2592C>T	c.(2590-2592)ctC>ctT	p.L864L	MAP2_ENST00000447185.1_Silent_p.L860L|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	864					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ACAGTCAGCTCGAAGACCTGG	0.473																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4											0			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2590-2592)ctC>ctT	microtubule-associated protein 2						83	74	77					2																	210559486		2203	4300	6503	SO:0001819	synonymous_variant	4133			central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559486C>T			CCDS2384.1, CCDS2385.1, CCDS33369.1	CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			2008-05-27			ENSG00000078018	ENSG00000078018	ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	"A-kinase anchor proteins"	6839	6839	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			157130	157130						3103857, 7479905	3103857, 7479905	Standard	Standard	XM_005246554	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	uc002vde.1	P11137	P11137	OTTHUMG00000132962	OTTHUMG00000132962	ENST00000360351.4:c.2592C>T	2.37:g.210559486C>T			MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.L860L|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	p.L864L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3098	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	864		Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.2592C>T	CCDS2384.1																																																																																									0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2		-1.141521	14	14	53	53	NM_001039538		4	8.131172	8.131172	47	0.078431	0	0	0	1	0	4	47	0.078431	T	210559486	C	T	210559486	2	4	80	1	0	0	0	0	0	0	0	1	9235	871	31	1		1	MAP2	2	210559486	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1763676	210559486	32639887	92	1607											
PLCD4	84812	broad.mit.edu	37	2	219483520	219483520	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:219483520C>T	ENST00000450993.2	+	4	739	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PLCD4_ENST00000417849.1_Missense_Mutation_p.R134C|U3_ENST00000516996.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.R134C	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	134	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCATCAGGAGCGCCTGGACCA	0.577																																						ENST00000450993.2											0			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(400-402)Cgc>Tgc	phospholipase C, delta 4						19	20	20					2																	219483520		2078	4203	6281	SO:0001583	missense	84812			intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219483520C>T	AI366170	AI366170	CCDS46516.1	CCDS46516.1	2q35	2013-01-10			2013-01-10			ENSG00000115556	ENSG00000115556	ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	"EF-hand domain containing"	9062	9062	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605939	605939						10702683, 9056492	10702683, 9056492	Standard	Standard	NM_032726	NM_032726		Approved		uc021vwx.1	uc021vwx.1	Q9BRC7	Q9BRC7	OTTHUMG00000154743	OTTHUMG00000154743	ENST00000450993.2:c.400C>T	2.37:g.219483520C>T	ENSP00000388631:p.Arg134Cys		PLCD4_ENST00000417849.1_Missense_Mutation_p.R134C|PLCD4_ENST00000432688.1_Missense_Mutation_p.R134C	p.R134C	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	739	+		Renal(207;0.0915)	134	EF-hand 1.	Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.400C>T	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628514	0.46944	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	T;T;T	0.44482	0.92;0.92;0.92	4.89	-0.634	0.11516	4.89	-0.634	0.11516	.	0.932149	0.08653	U	0.913725	T	0.48241	0.1489	L	0.43923	1.385	0.35091	D	0.76433	D;D	0.89917	1.0;0.999	D;P	0.64595	0.927;0.724	T	0.57837	-0.7742	10	0.87932	D	0	.	4.2227	0.10565	0.4874:0.2579:0.0:0.2547	.	81;134	B4DN84;Q9BRC7	.;PLCD4_HUMAN	C	134	ENSP00000388631:R134C;ENSP00000396942:R134C;ENSP00000396185:R134C	ENSP00000251959:R134C	R	+	1	0	0	PLCD4	219191764	219191764	0.985000	0.35326	0.516000	0.27786	0.976000	0.68499	2.383000	0.44354	0.014000	0.14944	0.655000	0.94253	CGC		0.577	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1		20.252831	-2	-2	13	13			6	20.474184	20.474184	3	0.666667	0	0	0	1	0	6	3	0.666667	T	219483520	C	T	219483520	3	4	80	1	0	0	0	0	1	0	0	0	12033	768	27	1	410	1	PLCD4	2	219483520	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8924034	219483520	23715853	93	1608											
STK11IP	114790	broad.mit.edu	37	2	220473354	220473354	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:220473354C>T	ENST00000456909.1	+	15	1743	c.1653C>T	c.(1651-1653)ggC>ggT	p.G551G	STK11IP_ENST00000295641.10_Silent_p.G562G			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	562	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTGAGGGCGTACGGGGCA	0.602																																						ENST00000456909.1											0			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1651-1653)ggC>ggT	serine/threonine kinase 11 interacting protein						51	56	54					2																	220473354		1991	4145	6136	SO:0001819	synonymous_variant	114790			protein localization	cytoplasm	protein kinase binding	g.chr2:220473354C>T	AF450267	AF450267	CCDS46521.1	CCDS46521.1	2q35	2008-06-03			2008-06-03			ENSG00000144589	ENSG00000144589	ENSG00000144589	ENSG00000144589				19184	19184	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"LKB1 interacting protein"	"LKB1 interacting protein"	607172	607172						11741830	11741830	Standard	Standard	NM_052902	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	uc002vml.3	Q8N1F8	Q8N1F8	OTTHUMG00000059239	OTTHUMG00000059239	ENST00000456909.1:c.1653C>T	2.37:g.220473354C>T			STK11IP_ENST00000295641.10_Silent_p.G562G	p.G551G			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1743	+		Renal(207;0.0183)	562	Glu-rich.	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37	c.1653C>T																																																																																										0.602	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1		19.884480	-10	-10	53	53	NM_052902		8	21.041074	21.041074	20	0.285714	0	0	0	1	0	8	20	0.285714	T	220473354	C	T	220473354	2	4	80	1	0	0	0	0	0	0	0	1	15287	755	27	1		1	STK11IP	2	220473354	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	989834	220473354	22726019	94	1609											
DOCK10	55619	broad.mit.edu	37	2	225688296	225688296	+	Silent	SNP	G	G	A	rs369199175		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:225688296G>A	ENST00000258390.7	-	28	3172	c.3105C>T	c.(3103-3105)tcC>tcT	p.S1035S	DOCK10_ENST00000409592.3_Silent_p.S1029S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1035					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1033S(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCACATGGTCGGATAGGACCA	0.418																																						ENST00000409592.3											1	Substitution - coding silent(1)	kidney(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3085-3087)tcC>tcT	dedicator of cytokinesis 10	G		1,3791		0,1,1895	146	137	140		3105	-11.8	0	2		140	0,8238		0,0,4119	no	coding-synonymous	DOCK10	NM_014689.2		0,1,6014	AA,AG,GG		0.0,0.0264,0.0083		1035/2187	225688296	1,12029	1896	4119	6015	SO:0001819	synonymous_variant	55619					GTP binding	g.chr2:225688296G>A	AB014594	AB014594	CCDS46528.1, CCDS74661.1	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			2013-01-10			ENSG00000135905	ENSG00000135905	ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	23479	23479	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"zizimin3"	"zizimin3"	611518	611518						12432077	12432077	Standard	Standard	NM_014689	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	uc010fwz.1	Q96BY6	Q96BY6	OTTHUMG00000153428	OTTHUMG00000153428	ENST00000258390.7:c.3105C>T	2.37:g.225688296G>A			DOCK10_ENST00000258390.7_Silent_p.S1035S	p.S1029S			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	28	3200	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1035		B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.3087C>T	CCDS46528.1																																																																																									0.418	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		18.679073	-20	-20	42	42			8	21.823872	21.823872	31	0.205128	0	0	0	1	0	8	31	0.205128	A	225688296	G	A	225688296	2	1	80	1	0	0	0	0	0	0	0	1	4685	1103	39	1		1	DOCK10	2	225688296	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5214942	225688296	17511077	95	1610											
HTR2B	3357	broad.mit.edu	37	2	231973446	231973446	+	Missense_Mutation	SNP	G	G	A	rs180891719		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:231973446G>A	ENST00000258400.3	-	4	1743	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	411					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	TTACTGGAGCGTTTTCTGAGA	0.428													G|||	1	0.000199681	0	0	5008	,	,		18957	0.001		0	False		,,,				2504	0				Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(1231-1233)Cgc>Tgc	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled						135	133	133					2																	231973446		2203	4300	6503	SO:0001583	missense	3357			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973446G>A			CCDS2483.1	CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914	ENSG00000135914	ENSG00000135914		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5294	5294	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601122	601122	"5-hydroxytryptamine (serotonin) receptor 2B"		"5-hydroxytryptamine (serotonin) receptor 2B"			8143856	8143856	Standard	Standard	NM_000867	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	uc002vro.3	P41595	P41595	OTTHUMG00000133222	OTTHUMG00000133222	ENST00000258400.3:c.1231C>T	2.37:g.231973446G>A	ENSP00000258400:p.Arg411Cys		PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR	p.R411C	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1743	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	411		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.1231C>T	CCDS2483.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.320	-0.355782	0.05138	.	.	ENSG00000135914	ENST00000258400	T	0.62498	0.02	5.9	0.692	0.18050	5.9	0.692	0.18050	.	0.474985	0.25321	N	0.031519	T	0.20536	0.0494	N	0.00197	-1.87	0.34176	D	0.670379	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10520	-1.0626	10	0.36615	T	0.2	.	6.7167	0.23308	0.6341:0.1135:0.2524:0.0	.	226;411	B3VRC5;P41595	.;5HT2B_HUMAN	C	411	ENSP00000258400:R411C	ENSP00000258400:R411C	R	-	1	0	0	HTR2B	231681690	231681690	0.305000	0.24481	0.083000	0.20561	0.019000	0.09904	1.592000	0.36676	-0.100000	0.12241	-0.781000	0.03364	CGC		0.428	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2		52.538002	-29	-29	74	74	NM_000867		18	53.295677	53.295677	31	0.367347	0	0	0	1	0	18	31	0.367347	A	231973446	G	A	231973446	3	1	80	1	0	0	0	0	1	0	0	0	7442	1145	40	1	218	1	HTR2B	2	231973446	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6285150	231973446	11225927	96	1611											
NEU2	4759	broad.mit.edu	37	2	233897559	233897559	+	Missense_Mutation	SNP	G	G	A	rs370749556	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:233897559G>A	ENST00000233840.3	+	1	178	c.178G>A	c.(178-180)Gac>Aac	p.D60N		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	60					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	AGGAGACTACGACGCACCCAC	0.637													G|||	3	0.000599042	0	0.0043	5008	,	,		20144	0		0	False		,,,				2504	0					ENST00000233840.3											0			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(178-180)Gac>Aac	sialidase 2 (cytosolic sialidase)	G	ASN/ASP	0,4406		0,0,2203	37	33	34		178	-1.3	0	2		34	1,8599		0,1,4299	no	missense	NEU2	NM_005383.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	60/381	233897559	1,13005	2203	4300	6503	SO:0001583	missense	4759					exo-alpha-sialidase activity	g.chr2:233897559G>A	Y16535	Y16535	CCDS2501.1	CCDS2501.1	2q37	2008-05-27			2008-05-27			ENSG00000115488	ENSG00000115488	ENSG00000115488	ENSG00000115488				7759	7759	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"N-acetyl-alpha-neuraminidase 2"	"N-acetyl-alpha-neuraminidase 2"	605528	605528						10191093, 14613940	10191093, 14613940	Standard	Standard	NM_005383	NM_005383		Approved	SIAL2	uc010zmn.2	uc010zmn.2	Q9Y3R4	Q9Y3R4	OTTHUMG00000133274	OTTHUMG00000133274	ENST00000233840.3:c.178G>A	2.37:g.233897559G>A	ENSP00000233840:p.Asp60Asn			p.D60N	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	1	178	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	60		Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.178G>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	G	6.367	0.435859	0.12104	0.0	1.16E-4	ENSG00000115488	ENST00000233840	D	0.83755	-1.76	5.54	-1.31	0.09230	5.54	-1.31	0.09230	Neuraminidase (2);	0.804728	0.10850	N	0.627229	T	0.61887	0.2383	N	0.04768	-0.165	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.45026	-0.9289	10	0.14252	T	0.57	-8.1065	10.9659	0.47412	0.5948:0.0:0.4052:0.0	.	60	Q9Y3R4	NEUR2_HUMAN	N	60	ENSP00000233840:D60N	ENSP00000233840:D60N	D	+	1	0	0	NEU2	233605803	233605803	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.450000	0.06803	-0.059000	0.13154	0.591000	0.81541	GAC		0.637	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2		8.222010	-5	-5	9	9	NM_005383		3	8.443411	8.443411	6	0.333333	0	0	0	1	0	3	6	0.333333	A	233897559	G	A	233897559	3	1	80	1	0	0	0	0	1	0	0	0	10342	1058	37	1	180	1	NEU2	2	233897559	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1924113	233897559	9301814	97	1612											
AGAP1	116987	broad.mit.edu	37	2	236659132	236659132	+	Splice_Site	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:236659132G>A	ENST00000304032.8	+	6	1253	c.673G>A	c.(673-675)Gtt>Att	p.V225I	AGAP1_ENST00000409538.1_Splice_Site_p.V490I|AGAP1_ENST00000336665.5_Splice_Site_p.V225I|AGAP1_ENST00000428334.2_Splice_Site_p.V64I|AGAP1_ENST00000409457.1_Splice_Site_p.V225I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	225	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTCCAGGACGGTAAATGCGC	0.542																																						ENST00000304032.8											0			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(673-675)Gtt>Att	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						187	158	168					2																	236659132		2203	4300	6503	SO:0001630	splice_region_variant	116987			protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236659132G>A	AF413078	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	16922	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608651	608651	"centaurin, gamma 2"	CENTG2	"centaurin, gamma 2"	CENTG2				Standard	Standard	NM_001037131	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	uc002vvs.3	Q9UPQ3	Q9UPQ3	OTTHUMG00000133293	OTTHUMG00000133293	ENST00000304032.8:c.673+1G>A	2.37:g.236659132G>A			AGAP1_ENST00000409538.1_Splice_Site_p.V490I|AGAP1_ENST00000428334.2_Splice_Site_p.V64I|AGAP1_ENST00000336665.5_Splice_Site_p.V225I|AGAP1_ENST00000409457.1_Splice_Site_p.V225I	p.V225I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN			6	1253	+				Small GTPase-like.	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Splice_Site	SNP	ENST00000304032.8	37	c.673G>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507040	0.85282	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.39091	0.1065	L	0.51422	1.61	0.80722	D	1	D;D	0.60160	0.969;0.987	P;P	0.61658	0.595;0.892	T	0.02526	-1.1146	10	0.34782	T	0.22	.	19.0122	0.92877	0.0:0.0:1.0:0.0	.	225;225	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	225;225;225;490;64	ENSP00000387174:V225I;ENSP00000307634:V225I;ENSP00000338378:V225I;ENSP00000386897:V490I;ENSP00000411824:V64I	ENSP00000307634:V225I	V	+	1	0	0	AGAP1	236323871	236323871	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.548000	0.98103	2.581000	0.87130	0.561000	0.74099	GTT		0.542	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2		35.584281	-25	-25	87	87	NM_014914	Missense_Mutation	15	41.657676	41.657676	59	0.202703	0	0	0	1	0	15	59	0.202703	A	236659132	G	A	236659132	5	1	80	1	0	0	0	0	0	0	1	0	366	1130	39	1	695	1	AGAP1	2	236659132	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2761573	236659132	6540241	98	1613											
AGAP1	116987	broad.mit.edu	37	2	237032585	237032585	+	Missense_Mutation	SNP	G	G	A	rs138364081	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:237032585G>A	ENST00000304032.8	+	18	2973	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	AGAP1_ENST00000409538.1_Missense_Mutation_p.R1010Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R745Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R637Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	798			R -> G (in an autistic patient). {ECO:0000269|PubMed:15892143}.		protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTCACGGCCCGAGATGCCCAC	0.647																																						ENST00000304032.8											0			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(2392-2394)cGa>cAa	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	47	49	48		2393,2234	4.2	1	2	dbSNP_134	48	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	43,43	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	probably-damaging,probably-damaging	798/858,745/805	237032585	5,13001	2203	4300	6503	SO:0001583	missense	116987			protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:237032585G>A	AF413078	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	16922	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608651	608651	"centaurin, gamma 2"	CENTG2	"centaurin, gamma 2"	CENTG2				Standard	Standard	NM_001037131	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	uc002vvs.3	Q9UPQ3	Q9UPQ3	OTTHUMG00000133293	OTTHUMG00000133293	ENST00000304032.8:c.2393G>A	2.37:g.237032585G>A	ENSP00000307634:p.Arg798Gln		AGAP1_ENST00000409538.1_Missense_Mutation_p.R1010Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R637Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R745Q	p.R798Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN			18	2973	+					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.2393G>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101250	0.37048	4.54E-4	3.49E-4	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.21	4.21	0.49690	4.21	4.21	0.49690	Ankyrin repeat-containing domain (4);	0.122857	0.51477	D	0.000089	T	0.63105	0.2483	N	0.13235	0.315	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	P;D	0.79784	0.897;0.993	T	0.61073	-0.7136	10	0.19147	T	0.46	.	16.5628	0.84570	0.0:0.0:1.0:0.0	.	745;798	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	Q	798;745;1010;637	ENSP00000307634:R798Q;ENSP00000338378:R745Q;ENSP00000386897:R1010Q;ENSP00000411824:R637Q	ENSP00000307634:R798Q	R	+	2	0	0	AGAP1	236697324	236697324	1.000000	0.71417	0.997000	0.53966	0.018000	0.09664	9.570000	0.98174	1.901000	0.55032	0.591000	0.81541	CGA		0.647	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2		33.118749	4	4	51	51	NM_014914		11	33.693275	33.693275	20	0.354839	0	0	0	1	0	11	20	0.354839	A	237032585	G	A	237032585	3	1	80	1	0	0	0	0	1	0	0	0	366	1058	37	1	2463	1	AGAP1	2	237032585	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	373453	237032585	6166788	99	1614											
RNPEPL1	57140	broad.mit.edu	37	2	241513964	241513964	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:241513964C>T	ENST00000270357.4	+	6	1107	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	172					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GACTGCCTTCCGCCTGGACGC	0.647																																						ENST00000270357.4											0			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(514-516)Cgc>Tgc	arginyl aminopeptidase (aminopeptidase B)-like 1						40	38	38					2																	241513964		2201	4300	6501	SO:0001583	missense	57140			leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241513964C>T					2q37.3	2012-03-06			2012-03-06			ENSG00000142327	ENSG00000142327	ENSG00000142327	ENSG00000142327				10079	10079	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605287	605287						19508204	19508204	Standard	Standard	NM_018226	NM_018226		Approved		uc002vzi.4	uc002vzi.4	Q9HAU8	Q9HAU8	OTTHUMG00000133357	OTTHUMG00000133357	ENST00000270357.4:c.514C>T	2.37:g.241513964C>T	ENSP00000270357:p.Arg172Cys			p.R172C	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	6	1107	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)			Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.514C>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.197781	0.79015	.	.	ENSG00000142327	ENST00000270357	T	0.02606	4.23	4.64	3.73	0.42828	4.64	3.73	0.42828	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.058902	0.64402	D	0.000001	T	0.11623	0.0283	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.972;0.985	T	0.00573	-1.1664	10	0.72032	D	0.01	-16.6565	12.4432	0.55637	0.0:0.8288:0.1711:0.0	.	78;172	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	C	172	ENSP00000270357:R172C	ENSP00000270357:R172C	R	+	1	0	0	RNPEPL1	241162637	241162637	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.310000	0.59141	1.013000	0.39391	0.591000	0.81541	CGC		0.647	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4		30.879059	-5	-5	17	17	NM_018226		9	31.130815	31.130815	5	0.642857	0	0	0	1	0	9	5	0.642857	T	241513964	C	T	241513964	3	4	80	1	0	0	0	0	1	0	0	0	13510	652	23	1	528	1	RNPEPL1	2	241513964	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4481379	241513964	1685409	100	1615											
C2orf54	79919	broad.mit.edu	37	2	241829490	241829490	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:241829490C>T	ENST00000388934.4	-	3	984	c.826G>A	c.(826-828)Gac>Aac	p.D276N	C2orf54_ENST00000307486.8_Missense_Mutation_p.D127N|C2orf54_ENST00000402775.2_Missense_Mutation_p.D108N	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	276										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TTGACCCGGTCGAGGATGGAG	0.662																																						ENST00000307486.8											0			haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(379-381)Gac>Aac	chromosome 2 open reading frame 54						47	56	53					2																	241829490		2096	4219	6315	SO:0001583	missense	79919						g.chr2:241829490C>T	AK026324, AK056601	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			2011-02-23			ENSG00000172478	ENSG00000172478	ENSG00000172478	ENSG00000172478				26216	26216	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001282921	NM_001282921		Approved	FLJ22671	uc002wae.4	uc002wae.4	Q08AI8	Q08AI8	OTTHUMG00000151906	OTTHUMG00000151906	ENST00000388934.4:c.826G>A	2.37:g.241829490C>T	ENSP00000373586:p.Asp276Asn		C2orf54_ENST00000402775.2_Missense_Mutation_p.D108N|C2orf54_ENST00000388934.4_Missense_Mutation_p.D276N	p.D127N	NM_001282921.1	NP_001269850.1	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	3	477	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	276		B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	c.379G>A	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315665	0.60524	.	.	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.07567	3.18;3.18;3.18	3.73	3.73	0.42828	3.73	3.73	0.42828	.	0.253393	0.27851	N	0.017592	T	0.26629	0.0651	M	0.72118	2.19	0.33082	D	0.536817	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.97;0.98;0.922	T	0.40683	-0.9550	10	0.87932	D	0	0.7157	14.1323	0.65263	0.0:1.0:0.0:0.0	.	276;127;108	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	N	108;127;276	ENSP00000385338:D108N;ENSP00000302779:D127N;ENSP00000373586:D276N	ENSP00000302779:D127N	D	-	1	0	0	C2orf54	241478163	241478163	0.954000	0.32549	0.996000	0.52242	0.458000	0.32498	1.500000	0.35682	1.832000	0.53329	0.555000	0.69702	GAC		0.662	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1		6.582204	11	11	60	60	NM_024861, NM_001085437		4	9.79109	9.79109	23	0.148148	0	0	0	1	0	4	23	0.148148	T	241829490	C	T	241829490	3	4	80	1	0	0	0	0	1	0	0	0	2175	884	31	1	529	1	C2orf54	2	241829490	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	315526	241829490	1369883	101	1616											
HDLBP	3069	broad.mit.edu	37	2	242179190	242179190	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:242179190G>A	ENST00000391975.1	-	19	2664	c.2437C>T	c.(2437-2439)Cgc>Tgc	p.R813C	HDLBP_ENST00000391976.2_Missense_Mutation_p.R813C|HDLBP_ENST00000310931.4_Missense_Mutation_p.R813C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R780C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	813	KH 10. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACGAAGTGGCGGTGGTGCTTG	0.577																																						ENST00000391975.1											0			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2437-2439)Cgc>Tgc	high density lipoprotein binding protein						62	58	59					2																	242179190		2203	4300	6503	SO:0001583	missense	3069			cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179190G>A			CCDS2547.1, CCDS58760.1	CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677	ENSG00000115677	ENSG00000115677				4857	4857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142695	142695	"vigilin"	VGL	"vigilin"	VGL		1318310, 8390966	1318310, 8390966	Standard	Standard	NM_005336	NM_005336		Approved	HBP	uc002waz.3	uc002waz.3	Q00341	Q00341	OTTHUMG00000133391	OTTHUMG00000133391	ENST00000391975.1:c.2437C>T	2.37:g.242179190G>A	ENSP00000375836:p.Arg813Cys		HDLBP_ENST00000310931.4_Missense_Mutation_p.R813C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R780C|HDLBP_ENST00000391976.2_Missense_Mutation_p.R813C	p.R813C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	19	2664	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	813	KH 10.	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2437C>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.734081|4.734081	0.89482|0.89482	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44	5.41|5.41	4.53|4.53	0.55603|0.55603	5.41|5.41	4.53|4.53	0.55603|0.55603	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.047041	.|0.85682	.|D	.|0.000000	T|T	0.60327|0.60327	0.2260|0.2260	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.982	T|T	0.69045|0.69045	-0.5249|-0.5249	5|10	.|0.87932	.|D	.|0	-23.1174|-23.1174	14.4193|14.4193	0.67173|0.67173	0.0712:0.0:0.9288:0.0|0.0712:0.0:0.9288:0.0	.|.	.|780;813	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	L|C	621|813;813;813;780	.|ENSP00000375836:R813C;ENSP00000375837:R813C;ENSP00000312042:R813C;ENSP00000399139:R780C	.|ENSP00000312042:R813C	P|R	-|-	2|1	0|0	0|0	HDLBP|HDLBP	241827863|241827863	241827863|241827863	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.929000|0.929000	0.56500|0.56500	9.699000|9.699000	0.98703|0.98703	1.427000|1.427000	0.47276|0.47276	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.577	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5		10.048807	-7	-7	43	43	NM_203346		5	11.568309	11.568309	17	0.227273	0	0	0	1	0	5	17	0.227273	A	242179190	G	A	242179190	3	1	80	1	0	0	0	0	1	0	0	0	7025	1116	39	1	1409	1	HDLBP	2	242179190	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	349700	242179190	1020183	102	1617											
MTMR14	64419	broad.mit.edu	37	3	9743591	9743591	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:9743591C>T	ENST00000296003.4	+	19	2009	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	MTMR14_ENST00000351233.5_Silent_p.I517I|CPNE9_ENST00000383832.3_5'Flank|MTMR14_ENST00000353332.5_Silent_p.I577I|CPNE9_ENST00000383831.3_5'Flank|MTMR14_ENST00000420925.1_Silent_p.I271I	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	629					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CCGGTGCCATCGGGGGCCTGC	0.612																																						ENST00000296003.4											0			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(1885-1887)atC>atT	myotubularin related protein 14						66	74	72					3																	9743591		1981	4165	6146	SO:0001819	synonymous_variant	64419				perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9743591C>T	BC001674	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	26190	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	611089	"chromosome 3 open reading frame 29"	C3orf29	"chromosome 3 open reading frame 29"	C3orf29		15186772	15186772	Standard	Standard	NM_022485	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	uc003brz.3	Q8NCE2	Q8NCE2	OTTHUMG00000155111	OTTHUMG00000155111	ENST00000296003.4:c.1887C>T	3.37:g.9743591C>T			MTMR14_ENST00000353332.5_Silent_p.I577I|MTMR14_ENST00000420925.1_Silent_p.I271I|MTMR14_ENST00000351233.5_Silent_p.I517I	p.I629I	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			19	2009	+	Medulloblastoma(99;0.227)		629		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.1887C>T	CCDS43043.1																																																																																									0.612	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1		73.337829	1	1	86	86	NM_022485		21	75.447593	75.447593	1	0.954545	0	0	0	1	0	21	1	0.954545	T	9743591	C	T	9743591	2	4	80	1	0	0	0	0	0	0	0	1	9942	874	31	1		1	MTMR14	3	9743591	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		9743591	188278839	103	1618											
TADA3	10474	broad.mit.edu	37	3	9831435	9831435	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:9831435G>A	ENST00000301964.2	-	3	978	c.420C>T	c.(418-420)atC>atT	p.I140I	TADA3_ENST00000492635.1_5'UTR|ARPC4_ENST00000397261.3_5'Flank|ARPC4_ENST00000498623.2_5'Flank|TADA3_ENST00000440161.1_Silent_p.I140I|ARPC4_ENST00000287613.7_5'Flank|TADA3_ENST00000343450.2_Silent_p.I140I	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	140					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGCACGTCGATAGGGTCAT	0.572																																						ENST00000343450.2											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(418-420)atC>atT	transcriptional adaptor 3						127	114	118					3																	9831435		2203	4300	6503	SO:0001819	synonymous_variant	10474			estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9831435G>A	AF069733	AF069733	CCDS2583.1, CCDS2584.1	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148	ENSG00000171148	ENSG00000171148				19422	19422	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602945	602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	9674425, 11707411	Standard	Standard	NM_006354	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	uc010hcn.2	O75528	O75528	OTTHUMG00000128440	OTTHUMG00000128440	ENST00000301964.2:c.420C>T	3.37:g.9831435G>A			TADA3_ENST00000301964.2_Silent_p.I140I|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000440161.1_Silent_p.I140I	p.I140I	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			3	967	-			140		Q6FI83|Q9UFS2	Silent	SNP	ENST00000301964.2	37	c.420C>T	CCDS2583.1																																																																																									0.572	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1		12.760809	-42	-42	123	123			8	19.416502	19.416502	47	0.145455	0	0	0	1	0	8	47	0.145455	A	9831435	G	A	9831435	2	1	80	1	0	0	0	0	0	0	0	1	15509	1048	37	1		1	TADA3	3	9831435	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	87844	9831435	188190995	104	1619											
NUP210	23225	broad.mit.edu	37	3	13370329	13370329	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:13370329C>T	ENST00000254508.5	-	31	4310	c.4228G>A	c.(4228-4230)Gac>Aac	p.D1410N		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1410					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|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)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCAGAGTTGTCGTGGAAGTGG	0.547																																						ENST00000254508.5											0			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4228-4230)Gac>Aac	nucleoporin 210kDa						137	122	127					3																	13370329		2203	4300	6503	SO:0001583	missense	23225			carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13370329C>T	AB020713	AB020713	CCDS33704.1	CCDS33704.1	3p25	2008-02-05			2008-02-05			ENSG00000132182	ENSG00000132182	ENSG00000132182	ENSG00000132182				30052	30052	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607703	607703						2184032, 7504063	2184032, 7504063	Standard	Standard	NM_024923	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	uc003bxv.1	Q8TEM1	Q8TEM1	OTTHUMG00000157268	OTTHUMG00000157268	ENST00000254508.5:c.4228G>A	3.37:g.13370329C>T	ENSP00000254508:p.Asp1410Asn			p.D1410N	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			31	4310	-	all_neural(104;0.187)		1410		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.4228G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114160	0.56398	.	.	ENSG00000132182	ENST00000254508	T	0.17054	2.3	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.117155	0.64402	D	0.000020	T	0.36248	0.0960	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	P	0.59115	0.852	T	0.01215	-1.1416	10	0.29301	T	0.29	-36.046	19.5739	0.95434	0.0:1.0:0.0:0.0	.	1410	Q8TEM1	PO210_HUMAN	N	1410	ENSP00000254508:D1410N	ENSP00000254508:D1410N	D	-	1	0	0	NUP210	13345329	13345329	1.000000	0.71417	0.925000	0.36789	0.023000	0.10783	7.755000	0.85180	2.691000	0.91804	0.563000	0.77884	GAC		0.547	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		77.742315	17	17	77	77	NM_024923		22	80.913576	80.913576	2	0.916667	0	0	0	1	0	22	2	0.916667	T	13370329	C	T	13370329	3	4	80	1	0	0	0	0	1	0	0	0	10760	884	31	1	1475	1	NUP210	3	13370329	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3538894	13370329	184652101	105	1620											
ZNF860	344787	broad.mit.edu	37	3	32030999	32030999	+	Missense_Mutation	SNP	G	G	A	rs570687729		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:32030999G>A	ENST00000360311.4	+	2	977	c.428G>A	c.(427-429)cGa>cAa	p.R143Q		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R143Q(1)		endometrium(3)|lung(4)|ovary(1)	8						AGATATGATCGAAGGCATCCT	0.403													G|||	1	0.000199681	0	0	5008	,	,		20323	0		0	False		,,,				2504	0.001					ENST00000360311.4											1	Substitution - Missense(1)	stomach(1)	endometrium(3)|lung(4)|ovary(1)	8						c.(427-429)cGa>cAa	zinc finger protein 860						59	45	49					3																	32030999		692	1591	2283	SO:0001583	missense	344787			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030999G>A	AK294003	AK294003	CCDS46784.1	CCDS46784.1	3p24.1	2013-01-08			2013-01-08			ENSG00000197385	ENSG00000197385	ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	34513	34513	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001137674	NM_001137674		Approved		uc011axg.2	uc011axg.2	A6NHJ4	A6NHJ4	OTTHUMG00000155838	OTTHUMG00000155838	ENST00000360311.4:c.428G>A	3.37:g.32030999G>A	ENSP00000373274:p.Arg143Gln			p.R143Q	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	977	+			143		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.428G>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.623274	0.00820	.	.	ENSG00000197385	ENST00000360311	T	0.04862	3.54	0.336	0.336	0.15958	0.336	0.336	0.15958	.	.	.	.	.	T	0.05593	0.0147	L	0.43757	1.38	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40794	-0.9544	8	.	.	.	.	6.424	0.21760	2.0E-4:0.0:0.9998:0.0	.	143	A6NHJ4	ZN860_HUMAN	Q	143	ENSP00000373274:R143Q	.	R	+	2	0	0	ZNF860	32006003	32006003	0.010000	0.17322	0.016000	0.15963	0.015000	0.08874	1.299000	0.33424	0.385000	0.24970	0.385000	0.25706	CGA		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1		4.308537	-5	-5	78	78			3	7.605368	7.605368	21	0.125	0	0	0	1	0	3	21	0.125	A	32030999	G	A	32030999	3	1	80	1	0	0	0	0	1	0	0	0	18191	1058	37	1	430	1	ZNF860	3	32030999	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	18660670	32030999	165991431	106	1621											
SLC22A14	9389	broad.mit.edu	37	3	38355294	38355294	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:38355294G>A	ENST00000273173.4	+	7	1331	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M	SLC22A14_ENST00000448498.1_Missense_Mutation_p.V414M	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	414					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTTCAGACACGTGGTCCCCAG	0.567																																						ENST00000273173.4											0			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1240-1242)Gtg>Atg	solute carrier family 22, member 14						136	129	131					3																	38355294		2203	4300	6503	SO:0001583	missense	9389				integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38355294G>A	AB011082	AB011082	CCDS2677.1	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671	ENSG00000144671	ENSG00000144671		"Solute carriers"	"Solute carriers"	8495	8495	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604048	604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	10072596	Standard	Standard	NM_004803	NM_004803		Approved	OCTL2	uc003cib.2	uc003cib.2	Q9Y267	Q9Y267	OTTHUMG00000131082	OTTHUMG00000131082	ENST00000273173.4:c.1240G>A	3.37:g.38355294G>A	ENSP00000273173:p.Val414Met		SLC22A14_ENST00000448498.1_Missense_Mutation_p.V414M	p.V414M	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	7	1331	+			414		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.1240G>A	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	g	7.256	0.604299	0.14002	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.75821	-0.97;-0.97	4.27	-8.54	0.00912	4.27	-8.54	0.00912	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.724340	0.03222	N	0.177768	T	0.57125	0.2032	L	0.43152	1.355	0.09310	N	1	P	0.38677	0.642	B	0.36378	0.223	T	0.55667	-0.8105	10	0.36615	T	0.2	.	1.2618	0.02003	0.4288:0.2274:0.1624:0.1814	.	414	Q9Y267	S22AE_HUMAN	M	414	ENSP00000396283:V414M;ENSP00000273173:V414M	ENSP00000273173:V414M	V	+	1	0	0	SLC22A14	38330298	38330298	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.731000	0.01853	-2.154000	0.00792	-1.501000	0.00957	GTG		0.567	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3		140.144586	2	2	113	113	NM_004803		38	141.80523	141.80523	1	0.974359	0	0	0	1	0	38	1	0.974359	A	38355294	G	A	38355294	3	1	80	1	0	0	0	0	1	0	0	0	14445	1145	40	1	1266	1	SLC22A14	3	38355294	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6324295	38355294	159667136	107	1622											
BAP1	8314	broad.mit.edu	37	3	52437188	52437217	+	In_Frame_Del	DEL	CCAGGCCTCACCATCCCCGTCTTCTCTCTG	CCAGGCCTCACCATCCCCGTCTTCTCTCTG	-	rs35353781|rs35448940	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:52437188_52437217delCCAGGCCTCACCATCCCCGTCTTCTCTCTG	ENST00000460680.1	-	14	2298_2327	c.1827_1856delCAGAGAGAAGACGGGGATGGTGAGGCCTGG	c.(1825-1857)agcagagagaagacggggatggtgaggcctggc>agc	p.REKTGMVRPG610del	BAP1_ENST00000296288.5_In_Frame_Del_p.REKTGMVRPG592del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G619D(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGG	0.609			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Missense(1)	endometrium(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1825-1857)agcagagagaagacggggatggtgaggcctggc>agc	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001651	inframe_deletion	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52437188_52437217delCCAGGCCTCACCATCCCCGTCTTCTCTCTG	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1827_1856delCAGAGAGAAGACGGGGATGGTGAGGCCTGG	3:g.52437188_52437217delCCAGGCCTCACCATCCCCGTCTTCTCTCTG	ENSP00000417132:p.Arg610_Gly619del		BAP1_ENST00000296288.5_In_Frame_Del_p.REKTGMVRPG592del	p.REKTGMVRPG610del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	14	2298_2327	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	In_Frame_Del	DEL	ENST00000460680.1		c.1827_1856delCAGAGAGAAGACGGGGATGGTGAGGCCTGG	CCDS2853.1																																																																																									0.609	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	2.004000e+01	1.641000e+01	-1	-1	59	59			4			2	0.714						4	2	0.714	-	52437217	CCAGGCCTCACCATCCCCGTCTTCTCTCTG	-	52437188	7	5	80	1	0	1	0	1	0	0	0	0	1311	739	26	0	349	0	BAP1	3	52437188	In_Frame_Del	DEL	CCAGGCCTCACCATCCCCGTCTTCTCTCTG	TCGA-YZ-A985-01A-11D-A39W-08	14081894	52437188	145585242	108	1623											
CACNA1D	776	broad.mit.edu	37	3	53769529	53769529	+	Splice_Site	SNP	C	C	T	rs145327253		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:53769529C>T	ENST00000350061.5	+	20	3261	c.2750C>T	c.(2749-2751)aCg>aTg	p.T917M	CACNA1D_ENST00000422281.2_Splice_Site_p.T917M|CACNA1D_ENST00000288139.4_Splice_Site_p.T937M	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	917					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCCGGAACACGGTAAGTCCC	0.622																																						ENST00000288139.4											0			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2809-2811)aCg>aTg	calcium channel, voltage-dependent, L type, alpha 1D subunit	C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	54	49	51		2810,2750,2750	4.3	1	3	dbSNP_134	51	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	937/2182,917/2138,917/2162	53769529	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	776			axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53769529C>T	AB209171	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			2012-03-07			ENSG00000157388	ENSG00000157388	ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	1391	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114206	114206		CCHL1A2, CACNL1A2		CCHL1A2, CACNL1A2		1664412	1664412	Standard	Standard	NM_000720	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	uc003dgu.5	Q01668	Q01668	OTTHUMG00000158278	OTTHUMG00000158278	ENST00000350061.5:c.2751+1C>T	3.37:g.53769529C>T			CACNA1D_ENST00000422281.2_Splice_Site_p.T917M|CACNA1D_ENST00000350061.5_Splice_Site_p.T917M	p.T937M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	2928	+					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37	c.2810C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245047	0.22796	2.27E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.22	4.33	0.51752	5.22	4.33	0.51752	.	0.213333	0.39475	N	0.001349	D	0.93413	0.7899	N	0.24115	0.695	0.80722	D	1	P;P;P;D	0.54047	0.939;0.82;0.68;0.964	B;B;B;P	0.47075	0.335;0.172;0.172;0.536	D	0.91665	0.5345	10	0.46703	T	0.11	.	7.7477	0.28879	0.2688:0.6458:0.0:0.0853	.	917;610;917;937	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	M	917;937;917;610	ENSP00000288133:T917M;ENSP00000288139:T937M;ENSP00000409174:T917M;ENSP00000418014:T610M	ENSP00000288139:T937M	T	+	2	0	0	CACNA1D	53744569	53744569	0.979000	0.34478	0.968000	0.41197	0.332000	0.28634	2.257000	0.43240	2.604000	0.88044	0.555000	0.69702	ACG		0.622	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		27.158392	-12	-12	38	38	NM_000720	Missense_Mutation	8	28.451255	28.451255	1	0.888889	0	0	0	1	0	8	1	0.888889	T	53769529	C	T	53769529	5	4	80	1	0	0	0	0	0	0	1	0	2541	550	19	1	3000	1	CACNA1D	3	53769529	Splice_Site	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1332341	53769529	144252901	109	1624											
IL17RD	54756	broad.mit.edu	37	3	57131830	57131830	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:57131830C>T	ENST00000296318.7	-	12	1989	c.1901G>A	c.(1900-1902)cGg>cAg	p.R634Q	IL17RD_ENST00000427856.2_Missense_Mutation_p.R610Q|IL17RD_ENST00000320057.5_Missense_Mutation_p.R490Q|IL17RD_ENST00000463523.1_Missense_Mutation_p.R490Q	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	634					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAGGGCAGGCCGGGCCTCCCC	0.667																																						ENST00000296318.7											0			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1900-1902)cGg>cAg	interleukin 17 receptor D						19	22	21					3																	57131830		2203	4297	6500	SO:0001583	missense	54756				Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57131830C>T	AF494208	AF494208	CCDS2880.2	CCDS2880.2	3p21.1	2008-02-05			2008-02-05			ENSG00000144730	ENSG00000144730	ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	"Interleukins and interleukin receptors"	17616	17616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606807	606807						11802164, 12604616	11802164, 12604616	Standard	Standard	NM_017563	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	uc003dil.3	Q8NFM7	Q8NFM7	OTTHUMG00000150171	OTTHUMG00000150171	ENST00000296318.7:c.1901G>A	3.37:g.57131830C>T	ENSP00000296318:p.Arg634Gln		IL17RD_ENST00000320057.5_Missense_Mutation_p.R490Q|IL17RD_ENST00000463523.1_Missense_Mutation_p.R490Q|IL17RD_ENST00000427856.2_Missense_Mutation_p.R610Q	p.R634Q	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1989	-			634		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	c.1901G>A	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	C	9.532	1.111154	0.20714	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.08896	3.05;3.04;3.04;3.04	5.4	-1.6	0.08426	5.4	-1.6	0.08426	.	1.456630	0.03805	N	0.265075	T	0.02848	0.0085	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.39961	-0.9588	10	0.08381	T	0.77	-0.9368	6.0973	0.20027	0.1292:0.2996:0.0:0.5712	.	490;634;610	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	Q	634;490;610;490	ENSP00000296318:R634Q;ENSP00000322250:R490Q;ENSP00000399209:R610Q;ENSP00000417516:R490Q	ENSP00000296318:R634Q	R	-	2	0	0	IL17RD	57106870	57106870	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.247000	0.08866	-0.225000	0.09913	-0.229000	0.12294	CGG		0.667	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1		20.353039	-9	-9	12	12	NM_017563		6	20.574593	20.574593	3	0.666667	0	0	0	1	0	6	3	0.666667	T	57131830	C	T	57131830	3	4	80	1	0	0	0	0	1	0	0	0	7642	652	23	1	326	1	IL17RD	3	57131830	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3362301	57131830	140890600	110	1625											
ROBO1	6091	broad.mit.edu	37	3	78700895	78700895	+	Silent	SNP	C	C	T	rs374375350		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:78700895C>T	ENST00000464233.1	-	19	2912	c.2799G>A	c.(2797-2799)gcG>gcA	p.A933A	ROBO1_ENST00000495273.1_Silent_p.A897A|ROBO1_ENST00000467549.1_Silent_p.A897A|ROBO1_ENST00000436010.2_Silent_p.A894A	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	933					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTGATACCCGCGTAGGTAC	0.373													C|||	1	0.000199681	0	0	5008	,	,		16226	0		0.001	False		,,,				2504	0					ENST00000436010.2											0			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2680-2682)gcG>gcA	roundabout, axon guidance receptor, homolog 1 (Drosophila)	C	,,	0,3760		0,0,1880	61	57	58		2691,2799,2691	-3.3	0.9	3		58	1,8227		0,1,4113	no	coding-synonymous,coding-synonymous,coding-synonymous	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	,,	0,1,5993	TT,TC,CC		0.0122,0.0,0.0083	,,	897/1552,933/1652,897/1607	78700895	1,11987	1880	4114	5994	SO:0001819	synonymous_variant	6091			activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78700895C>T	AF040990	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855	ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	10249	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602430	602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"		"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	9458045, 9608531	Standard	Standard	NM_002941	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	uc003dqe.2	Q9Y6N7	Q9Y6N7	OTTHUMG00000158843	OTTHUMG00000158843	ENST00000464233.1:c.2799G>A	3.37:g.78700895C>T			ROBO1_ENST00000464233.1_Silent_p.A933A|ROBO1_ENST00000495273.1_Silent_p.A897A|ROBO1_ENST00000467549.1_Silent_p.A897A	p.A894A			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	17	3679	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	933		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.2682G>A	CCDS54611.1																																																																																									0.373	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1		35.294551	-5	-5	17	17	NM_002941		9	35.292597	35.292597	0	1	0	0	0	1	0	9	0	1	T	78700895	C	T	78700895	2	4	80	1	0	0	0	0	0	0	0	1	13513	639	23	1		1	ROBO1	3	78700895	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	21569065	78700895	119321535	111	1626											
ADCY5	111	broad.mit.edu	37	3	123049783	123049783	+	Silent	SNP	G	G	A	rs552930549	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:123049783G>A	ENST00000462833.1	-	5	2811	c.1599C>T	c.(1597-1599)caC>caT	p.H533H	ADCY5_ENST00000309879.5_Silent_p.H183H|ADCY5_ENST00000491190.1_Silent_p.H166H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	533	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|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)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGCAGTGGGCGTGGTCAGCCC	0.542													G|||	3	0.000599042	8e-04	0.0014	5008	,	,		18200	0		0.001	False		,,,				2504	0					ENST00000462833.1											0			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1597-1599)caC>caT	adenylate cyclase 5						85	71	76					3																	123049783		2203	4300	6503	SO:0001819	synonymous_variant	111			activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123049783G>A	U65473	U65473	CCDS3022.1, CCDS56274.1	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			2013-02-04			ENSG00000173175	ENSG00000173175	ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	"Adenylate cyclases"	236	236	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600293	600293						10481931	10481931	Standard	Standard	NM_183357	NM_183357		Approved	AC5	uc003egh.2	uc003egh.2	O95622	O95622	OTTHUMG00000159517	OTTHUMG00000159517	ENST00000462833.1:c.1599C>T	3.37:g.123049783G>A			ADCY5_ENST00000491190.1_Silent_p.H166H|ADCY5_ENST00000309879.5_Silent_p.H183H	p.H533H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	5	2811	-			533	Guanylate cyclase 1.	B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1599C>T	CCDS3022.1																																																																																									0.542	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4		47.152089	-7	-7	22	22	XM_171048		14	49.279047	49.279047	1	0.933333	0	0	0	1	0	14	1	0.933333	A	123049783	G	A	123049783	2	1	80	1	0	0	0	0	0	0	0	1	297	1136	40	1		1	ADCY5	3	123049783	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	44348888	123049783	74972647	112	1627											
SLITRK3	22865	broad.mit.edu	37	3	164906265	164906265	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:164906265G>A	ENST00000475390.1	-	2	2797	c.2354C>T	c.(2353-2355)cCg>cTg	p.P785L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P785L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	785					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P785L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACCCATTCCCGGTGGTTGTGT	0.552										HNSCC(40;0.11)																												ENST00000475390.1											1	Substitution - Missense(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2353-2355)cCg>cTg	SLIT and NTRK-like family, member 3						87	93	91					3																	164906265		2203	4300	6503	SO:0001583	missense	22865				integral to membrane		g.chr3:164906265G>A	AB020655	AB020655	CCDS3197.1	CCDS3197.1	3q26.1	2004-07-28			2004-07-28			ENSG00000121871	ENSG00000121871	ENSG00000121871	ENSG00000121871				23501	23501	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609679	609679						10048485, 14557068	10048485, 14557068	Standard	Standard	NM_014926	NM_014926		Approved	KIAA0848	uc003fek.3	uc003fek.3	O94933	O94933	OTTHUMG00000158072	OTTHUMG00000158072	ENST00000475390.1:c.2354C>T	3.37:g.164906265G>A	ENSP00000420091:p.Pro785Leu		SLITRK3_ENST00000241274.3_Missense_Mutation_p.P785L	p.P785L			O94933	SLIK3_HUMAN			2	2797	-			785		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2354C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275349	0.23307	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54279	0.58;0.58	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.215496	0.23543	N	0.047051	T	0.29783	0.0744	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09552	-1.0669	10	0.21540	T	0.41	-0.9216	10.0662	0.42306	0.0882:0.0:0.9118:0.0	.	785	O94933	SLIK3_HUMAN	L	785	ENSP00000420091:P785L;ENSP00000241274:P785L	ENSP00000241274:P785L	P	-	2	0	0	SLITRK3	166388959	166388959	0.618000	0.27051	0.046000	0.18839	0.531000	0.34715	1.995000	0.40767	2.832000	0.97577	0.655000	0.94253	CCG		0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1		49.594575	-15	-15	78	78	NM_014926		16	49.868453	49.868453	23	0.410256	0	0	0	1	0	16	23	0.410256	A	164906265	G	A	164906265	3	1	80	1	0	0	0	0	1	0	0	0	14744	1116	39	1	583	1	SLITRK3	3	164906265	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	41856482	164906265	33116165	113	1628											
MUC4	4585	broad.mit.edu	37	3	195474130	195474130	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:195474130C>T	ENST00000346145.4	-	24	3487	c.3448G>A	c.(3448-3450)Ggg>Agg	p.G1150R	MUC4_ENST00000463781.3_Missense_Mutation_p.G5386R|MUC4_ENST00000349607.4_Missense_Mutation_p.G1099R|MUC4_ENST00000475231.1_Missense_Mutation_p.G5334R	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2143					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACGAACGTCCCGACCCCCAGC	0.637																																						ENST00000463781.3											0			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(16156-16158)Ggg>Agg	mucin 4, cell surface associated						77	81	80					3																	195474130		2203	4300	6503	SO:0001583	missense	4585			cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195474130C>T	AJ276359	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	ENSG00000145113	ENSG00000145113		"Mucins"	"Mucins"	7514	7514	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			158372	158372	"mucin 4, tracheobronchial"		"mucin 4, tracheobronchial"			1673336	1673336	Standard	Standard	NM_004532	NM_004532		Approved		uc021xjp.1	uc021xjp.1	Q99102	Q99102	OTTHUMG00000151827	OTTHUMG00000151827	ENST00000346145.4:c.3448G>A	3.37:g.195474130C>T	ENSP00000304207:p.Gly1150Arg		MUC4_ENST00000349607.4_Missense_Mutation_p.G1099R|MUC4_ENST00000346145.4_Missense_Mutation_p.G1150R|MUC4_ENST00000475231.1_Missense_Mutation_p.G5334R	p.G5386R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	25	16615	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	2143		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.16156G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	c	12.97	2.097113	0.37048	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.37584	1.19;1.55;1.41;1.47	5.14	2.27	0.28462	5.14	2.27	0.28462	.	1.906250	0.03227	N	0.178498	T	0.37892	0.1020	L	0.43152	1.355	0.09310	N	1	D;D;D;D;D;D	0.67145	0.996;0.98;0.98;0.967;0.967;0.98	P;P;P;B;B;P	0.47915	0.561;0.482;0.482;0.289;0.289;0.482	T	0.13045	-1.0524	10	0.62326	D	0.03	0.2878	4.248	0.10680	0.189:0.616:0.0:0.195	.	5258;1099;1150;5386;5334;2091	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	R	1099;1150;5386;5334;1886	ENSP00000338109:G1099R;ENSP00000304207:G1150R;ENSP00000417498:G5386R;ENSP00000420243:G5334R	ENSP00000304207:G1150R	G	-	1	0	0	MUC4	196959801	196959801	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.162000	0.10012	0.164000	0.19529	0.543000	0.68304	GGG		0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1		23.733853	35	35	110	110	NM_018406		10	26.181793	26.181793	31	0.243902	0	0	0	1	0	10	31	0.243902	T	195474130	C	T	195474130	3	4	80	1	0	0	0	0	1	0	0	0	9978	652	23	1	86	1	MUC4	3	195474130	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	30567865	195474130	2548300	114	1629											
PDE6B	5158	broad.mit.edu	37	4	647752	647752	+	Missense_Mutation	SNP	G	G	A	rs199768318		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:647752G>A	ENST00000496514.1	+	4	844	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	RP11-1191J2.2_ENST00000599030.1_RNA|PDE6B_ENST00000429163.2_5'UTR|PDE6B_ENST00000255622.6_Missense_Mutation_p.V275M|RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000598370.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	275	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GCGGTACTCCGTGGGCCTCCT	0.647																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6											0			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(823-825)Gtg>Atg	phosphodiesterase 6B, cGMP-specific, rod, beta						93	79	84					4																	647752		2203	4300	6503	SO:0001583	missense	5158			cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:647752G>A	BC000249	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	"Phosphodiesterases"	8786	8786	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	"congenital stationary night blindness 3, autosomal dominant"	180072	180072		PDEB		PDEB		1313787	1313787	Standard	Standard	NM_001145292	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	uc003gap.3	P35913	P35913	OTTHUMG00000159909	OTTHUMG00000159909	ENST00000496514.1:c.823G>A	4.37:g.647752G>A	ENSP00000420295:p.Val275Met		PDE6B_ENST00000429163.2_5'UTR|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.V275M|RP11-1191J2.2_ENST00000468356.1_RNA	p.V275M	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN			4	866	+			275	GAF 2.	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.823G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.674935	0.67928	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.72167	-0.63;-0.63	5.26	5.26	0.73747	5.26	5.26	0.73747	GAF (2);	0.000000	0.85682	D	0.000000	D	0.85986	0.5825	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.88489	0.3074	10	0.87932	D	0	.	16.3608	0.83267	0.0:0.0:1.0:0.0	.	275;275	P35913;P35913-2	PDE6B_HUMAN;.	M	275	ENSP00000255622:V275M;ENSP00000420295:V275M	ENSP00000255622:V275M	V	+	1	0	0	PDE6B	637752	637752	1.000000	0.71417	0.945000	0.38365	0.059000	0.15707	9.447000	0.97595	2.449000	0.82847	0.561000	0.74099	GTG		0.647	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1		15.137316	-23	-23	58	58	NM_000283		6	16.863703	16.863703	20	0.230769	0	0	0	1	0	6	20	0.230769	A	647752	G	A	647752	3	1	80	1	0	0	0	0	1	0	0	0	11646	1145	40	1	837	1	PDE6B	4	647752	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		647752	190506524	115	1630											
DGKQ	1609	broad.mit.edu	37	4	955350	955350	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:955350C>T	ENST00000273814.3	-	21	2552	c.2479G>A	c.(2479-2481)Gac>Aac	p.D827N	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	827					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCCCACAGGTCGGCCCCCGAG	0.692																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3											0			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2479-2481)Gac>Aac	diacylglycerol kinase, theta 110kDa						12	13	13					4																	955350		2178	4285	6463	SO:0001583	missense	1609			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955350C>T	L38707	L38707	CCDS3342.1	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214	ENSG00000145214	ENSG00000145214				2856	2856	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601207	601207	"diacylglycerol kinase, theta (110kD)"	DAGK4	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	8617502, 9099683	Standard	Standard	NM_001347	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	uc003gbw.4	P52824	P52824	OTTHUMG00000088629	OTTHUMG00000088629	ENST00000273814.3:c.2479G>A	4.37:g.955350C>T	ENSP00000273814:p.Asp827Asn			p.D827N	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		21	2552	-			827		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2479G>A	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	8.004	0.756020	0.15846	.	.	ENSG00000145214	ENST00000273814;ENST00000515182	T;T	0.29917	1.55;1.55	5.32	4.48	0.54585	5.32	4.48	0.54585	Diacylglycerol kinase, accessory domain (2);	0.044570	0.85682	N	0.000000	T	0.22513	0.0543	N	0.01809	-0.71	0.58432	D	0.999998	D;D	0.89917	0.974;1.0	P;D	0.91635	0.763;0.999	T	0.20840	-1.0263	10	0.02654	T	1	.	11.3869	0.49791	0.0:0.9115:0.0:0.0884	.	827;827	E9KL49;P52824	.;DGKQ_HUMAN	N	827;42	ENSP00000273814:D827N;ENSP00000421756:D42N	ENSP00000273814:D827N	D	-	1	0	0	DGKQ	945350	945350	1.000000	0.71417	0.898000	0.35279	0.162000	0.22319	5.204000	0.65180	1.251000	0.43983	0.556000	0.70494	GAC		0.692	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1		22.629577	-7	-7	10	10			7	23.268906	23.268906	2	0.777778	0	0	0	1	0	7	2	0.777778	T	955350	C	T	955350	3	4	80	1	0	0	0	0	1	0	0	0	4473	884	31	1	361	1	DGKQ	4	955350	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	307598	955350	190198926	116	1631											
DGKQ	1609	broad.mit.edu	37	4	955530	955530	+	Missense_Mutation	SNP	C	C	T	rs143203696		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:955530C>T	ENST00000273814.3	-	20	2481	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	803					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CACCTCCTGCCGCTCCACCTG	0.647													c|||	1	0.000199681	8e-04	0	5008	,	,		15333	0		0	False		,,,				2504	0				Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3											0			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2407-2409)cGg>cAg	diacylglycerol kinase, theta 110kDa		GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	56	61	60		2408	-0.4	1	4	dbSNP_134	60	0,8600		0,0,4300	no	missense	DGKQ	NM_001347.2	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	803/943	955530	4,13002	2203	4300	6503	SO:0001583	missense	1609			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955530C>T	L38707	L38707	CCDS3342.1	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214	ENSG00000145214	ENSG00000145214				2856	2856	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601207	601207	"diacylglycerol kinase, theta (110kD)"	DAGK4	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	8617502, 9099683	Standard	Standard	NM_001347	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	uc003gbw.4	P52824	P52824	OTTHUMG00000088629	OTTHUMG00000088629	ENST00000273814.3:c.2408G>A	4.37:g.955530C>T	ENSP00000273814:p.Arg803Gln			p.R803Q	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		20	2481	-			803		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2408G>A	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.97|11.97	1.797748|1.797748	0.31777|0.31777	9.08E-4|9.08E-4	0.0|0.0	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.41400	.|1.0	5.27|5.27	-0.454|-0.454	0.12197|0.12197	5.27|5.27	-0.454|-0.454	0.12197|0.12197	.|Diacylglycerol kinase, accessory domain (2);	.|0.543849	.|0.21430	.|N	.|0.074670	T|T	0.15522|0.15522	0.0374|0.0374	N|N	0.02539|0.02539	-0.55|-0.55	0.20975|0.20975	N|N	0.999811|0.999811	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.19976|0.19976	-1.0289|-1.0289	5|10	.|0.30854	.|T	.|0.27	.|.	8.5696|8.5696	0.33561|0.33561	0.0:0.3318:0.0:0.6682|0.0:0.3318:0.0:0.6682	.|.	.|803;803	.|E9KL49;P52824	.|.;DGKQ_HUMAN	S|Q	737|803	.|ENSP00000273814:R803Q	.|ENSP00000273814:R803Q	G|R	-|-	1|2	0|0	0|0	DGKQ|DGKQ	945530|945530	945530|945530	0.005000|0.005000	0.15991|0.15991	0.994000|0.994000	0.49952|0.49952	0.584000|0.584000	0.36387|0.36387	-0.014000|-0.014000	0.12656|0.12656	-0.223000|-0.223000	0.09943|0.09943	-0.471000|-0.471000	0.05019|0.05019	GGC|CGG		0.647	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1		25.765232	-5	-5	54	54			9	26.558207	26.558207	19	0.321429	0	0	0	1	0	9	19	0.321429	T	955530	C	T	955530	3	4	80	1	0	0	0	0	1	0	0	0	4473	652	23	1	436	1	DGKQ	4	955530	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	180	955530	190198746	117	1632											
TNIP2	79155	broad.mit.edu	37	4	2746454	2746454	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:2746454C>T	ENST00000315423.7	-	4	962	c.876G>A	c.(874-876)gcG>gcA	p.A292A	TNIP2_ENST00000510267.1_Silent_p.A185A|TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000505186.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCGCTCCAACGCAGCATCCC	0.612																																						ENST00000510267.1											0			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(553-555)gcG>gcA	TNFAIP3 interacting protein 2						38	43	41					4																	2746454		2203	4300	6503	SO:0001819	synonymous_variant	79155				cytosol	protein binding	g.chr4:2746454C>T	BC002740	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			2008-08-01			ENSG00000168884	ENSG00000168884	ENSG00000168884	ENSG00000168884				19118	19118	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610669	610669						11390377, 12933576	11390377, 12933576	Standard	Standard	NM_024309	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	uc003gfg.2	Q8NFZ5	Q8NFZ5	OTTHUMG00000090267	OTTHUMG00000090267	ENST00000315423.7:c.876G>A	4.37:g.2746454C>T			TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000315423.7_Silent_p.A292A|TNIP2_ENST00000505186.1_5'UTR	p.A185A	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	982	-			292			Silent	SNP	ENST00000315423.7	37	c.555G>A	CCDS3362.1																																																																																									0.612	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5		31.980153	-5	-5	75	75	NM_024309		12	34.192826	34.192826	33	0.266667	0	0	0	1	0	12	33	0.266667	T	2746454	C	T	2746454	2	4	80	1	0	0	0	0	0	0	0	1	16312	523	19	1		1	TNIP2	4	2746454	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1790924	2746454	188407822	118	1633											
HTT	3064	broad.mit.edu	37	4	3123053	3123053	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:3123053C>T	ENST00000355072.5	+	9	1312	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	389					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGCCTCCACCCGAGCTTCTGC	0.567																																						ENST00000355072.5											0			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(1165-1167)ccC>ccT	huntingtin						65	66	66					4																	3123053		1946	4153	6099	SO:0001819	synonymous_variant	3064			establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3123053C>T	L12392	L12392	CCDS43206.1	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	"Endogenous ligands"	4851	4851	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613004	613004	"huntingtin (Huntington disease)"	HD	"huntingtin (Huntington disease)"	HD		8458085	8458085	Standard	Standard	NM_002111	NM_002111		Approved	IT15	uc021xkv.1	uc021xkv.1	P42858	P42858	OTTHUMG00000159916	OTTHUMG00000159916	ENST00000355072.5:c.1167C>T	4.37:g.3123053C>T				p.P389P	NM_002111.6	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	9	1312	+		all_epithelial(65;0.18)	389		Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.1167C>T	CCDS43206.1																																																																																									0.567	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		54.975701	21	21	57	57	NM_002111		17	54.975701	54.975701	17	0.5	0	0	0	1	0	17	17	0.5	T	3123053	C	T	3123053	2	4	80	1	0	0	0	0	0	0	0	1	7457	639	23	1		1	HTT	4	3123053	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	376599	3123053	188031223	119	1634											
ATP10D	57205	broad.mit.edu	37	4	47538910	47538910	+	Nonsense_Mutation	SNP	C	C	T	rs375420700		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:47538910C>T	ENST00000273859.3	+	9	1620	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.R436*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	451					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATGGTTTTTCGAAGATGTAG	0.443																																						ENST00000273859.3											0			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1351-1353)Cga>Tga	ATPase, class V, type 10D	C	stop/ARG	0,4406		0,0,2203	66	64	64		1351	3.6	1	4		64	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ATP10D	NM_020453.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		451/1427	47538910	1,13005	2203	4300	6503	SO:0001587	stop_gained	57205			ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538910C>T	AB040920	AB040920	CCDS3476.1	CCDS3476.1	4p12	2010-04-20	2007-09-19		2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246	ENSG00000145246	ENSG00000145246		"ATPases / P-type"	"ATPases / P-type"	13549	13549	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"ATPase, Class V, type 10D"		"ATPase, Class V, type 10D"			12532265	12532265	Standard	Standard	NM_020453	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	uc003gxk.1	Q9P241	Q9P241	OTTHUMG00000160784	OTTHUMG00000160784	ENST00000273859.3:c.1351C>T	4.37:g.47538910C>T	ENSP00000273859:p.Arg451*		ATP10D_ENST00000504445.1_Nonsense_Mutation_p.R436*	p.R451*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			9	1620	+			451		A2RRC8|D6REN2|Q8NC70|Q96SR3	Nonsense_Mutation	SNP	ENST00000273859.3	37	c.1351C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355705	0.95854	0.0	1.16E-4	ENSG00000145246	ENST00000273859;ENST00000504445	.	.	.	5.38	3.6	0.41247	5.38	3.6	0.41247	.	0.073080	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3079	13.588	0.61942	0.2829:0.7171:0.0:0.0	.	.	.	.	X	451;436	.	ENSP00000273859:R451X	R	+	1	2	2	ATP10D	47233667	47233667	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.222000	0.51223	0.605000	0.29947	0.650000	0.86243	CGA		0.443	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		0.294672	-19	-19	38	38	NM_020453		3	6.911429	6.911429	34	0.081081	0	0	0	1	0	3	34	0.081081	T	47538910	C	T	47538910	4	4	80	1	0	0	0	0	0	1	0	0	1118	876	31	1	1381	1	ATP10D	4	47538910	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	44415857	47538910	143615366	120	1635											
PDGFRA	5156	broad.mit.edu	37	4	55146591	55146591	+	Silent	SNP	C	C	T	rs149659832		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:55146591C>T	ENST00000257290.5	+	16	2596	c.2265C>T	c.(2263-2265)tcC>tcT	p.S755S	FIP1L1_ENST00000507166.1_Silent_p.S515S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTAAATATTCCGACATCCAGA	0.398			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	0			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2263-2265)tcC>tcT	platelet-derived growth factor receptor, alpha polypeptide	C		2,4404	4.2+/-10.8	0,2,2201	85	82	83		2265	-5.8	0.1	4	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDGFRA	NM_006206.4		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		755/1090	55146591	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55146591C>T	D50001	D50001	CCDS3495.1	CCDS3495.1	4q12	2014-09-17			2014-09-17			ENSG00000134853	ENSG00000134853	ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	8803	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			173490	173490								Standard	Standard	NM_006206	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	uc003han.4	P16234	P16234	OTTHUMG00000128699	OTTHUMG00000128699	ENST00000257290.5:c.2265C>T	4.37:g.55146591C>T			FIP1L1_ENST00000507166.1_Silent_p.S515S	p.S755S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		16	2596	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		755	Protein kinase.	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.2265C>T	CCDS3495.1																																																																																									0.398	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		72.018350	-2	-2	63	63	NM_006206		23	72.219599	72.219599	30	0.433962	0	0	0	1	0	23	30	0.433962	T	55146591	C	T	55146591	2	4	80	1	0	0	0	0	0	0	0	1	11661	639	23	1		1	PDGFRA	4	55146591	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7607681	55146591	136007685	121	1636											
CSN1S1	1446	broad.mit.edu	37	4	70810661	70810661	+	Missense_Mutation	SNP	G	G	A	rs149927680	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:70810661G>A	ENST00000246891.4	+	15	545	c.496G>A	c.(496-498)Gac>Aac	p.D166N	CSN1S1_ENST00000505782.1_Missense_Mutation_p.D150N|CSN1S1_ENST00000507772.1_Missense_Mutation_p.D158N|CSN1S1_ENST00000444405.3_Missense_Mutation_p.D157N|CSN1S1_ENST00000507763.1_Missense_Mutation_p.D157N	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	166						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						ACCGTTTTCCGACATCTCCAA	0.418																																						ENST00000246891.4											0			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(496-498)Gac>Aac	casein alpha s1						266	251	256					4																	70810661		1919	4131	6050	SO:0001583	missense	0				extracellular region	protein binding|transporter activity	g.chr4:70810661G>A	X78416	X78416	CCDS47067.1, CCDS54769.1	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545	ENSG00000126545	ENSG00000126545				2445	2445	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			115450	115450	"casein, alpha"	CASA, CSN1	"casein, alpha"	CASA, CSN1		9050925, 7619062	9050925, 7619062	Standard	Standard	NM_001890	NM_001890		Approved		uc003hep.1	uc003hep.1	P47710	P47710	OTTHUMG00000160843	OTTHUMG00000160843	ENST00000246891.4:c.496G>A	4.37:g.70810661G>A	ENSP00000246891:p.Asp166Asn		CSN1S1_ENST00000444405.3_Missense_Mutation_p.D157N|CSN1S1_ENST00000505782.1_Missense_Mutation_p.D150N|CSN1S1_ENST00000507772.1_Missense_Mutation_p.D158N|CSN1S1_ENST00000507763.1_Missense_Mutation_p.D157N	p.D166N	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN			15	545	+			166		A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	ENST00000246891.4	37	c.496G>A	CCDS47067.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236426	0.22711	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782;ENST00000510936	T;T;T;T;T;T	0.47869	1.03;1.02;1.02;1.02;1.0;0.83	4.28	-3.58	0.04597	4.28	-3.58	0.04597	.	1.284450	0.05448	N	0.548891	T	0.21962	0.0529	N	0.11927	0.2	0.22926	N	0.998559	P;P;P	0.36125	0.538;0.538;0.538	B;B;B	0.24155	0.051;0.051;0.051	T	0.10451	-1.0629	9	0.37606	T	0.19	-0.132	5.695	0.17851	0.5235:0.2806:0.1959:0.0	.	158;157;166	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	N	166;157;158;157;158;150;57	ENSP00000246891:D166N;ENSP00000413157:D157N;ENSP00000422611:D157N;ENSP00000427490:D158N;ENSP00000426684:D150N;ENSP00000421314:D57N	ENSP00000246891:D166N	D	+	1	0	0	CSN1S1	70845250	70845250	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.279000	0.08479	-0.873000	0.04032	-0.175000	0.13238	GAC		0.418	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1		55.004985	-18	-18	106	106			22	60.182931	60.182931	67	0.247191	0	0	0	1	0	22	67	0.247191	A	70810661	G	A	70810661	3	1	80	1	0	0	0	0	1	0	0	0	3947	1058	37	1	550	1	CSN1S1	4	70810661	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15664070	70810661	120343615	122	1637											
FRAS1	80144	broad.mit.edu	37	4	79334177	79334177	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:79334177G>A	ENST00000325942.6	+	32	4803	c.4363G>A	c.(4363-4365)Gcg>Acg	p.A1455T	FRAS1_ENST00000264895.6_Missense_Mutation_p.A1455T	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1455					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTCAACATCGCGATCTTACC	0.512																																						ENST00000264895.6											0			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4363-4365)Gcg>Acg	Fraser syndrome 1						124	126	125					4																	79334177		1980	4163	6143	SO:0001583	missense	80144			cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79334177G>A	AB040933	AB040933	CCDS54772.1	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759	ENSG00000138759	ENSG00000138759				19185	19185	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607830	607830	"Fraser syndrome 1"		"Fraser syndrome 1"			12766769, 3118036	12766769, 3118036	Standard	Standard	NM_025074	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	uc003hlb.2	Q86XX4	Q86XX4	OTTHUMG00000160856	OTTHUMG00000160856	ENST00000325942.6:c.4363G>A	4.37:g.79334177G>A	ENSP00000326330:p.Ala1455Thr		FRAS1_ENST00000325942.6_Missense_Mutation_p.A1455T	p.A1455T	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			32	4803	+			1454		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4363G>A	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034512	0.54896	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.51325	0.71;0.71	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.114253	0.64402	D	0.000014	T	0.57784	0.2077	N	0.25485	0.75	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.66716	0.743;0.946	T	0.50013	-0.8877	10	0.33141	T	0.24	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1455;1455	E9PHH6;A2RRR8	.;.	T	1455	ENSP00000326330:A1455T;ENSP00000264895:A1455T	ENSP00000264895:A1455T	A	+	1	0	0	FRAS1	79553201	79553201	1.000000	0.71417	0.972000	0.41901	0.092000	0.18411	6.566000	0.73978	2.941000	0.99782	0.655000	0.94253	GCG		0.512	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		16.535603	2	2	16	16			6	16.669666	16.669666	9	0.4	0	0	0	1	0	6	9	0.4	A	79334177	G	A	79334177	3	1	80	1	0	0	0	0	1	0	0	0	6042	1087	38	1	4489	1	FRAS1	4	79334177	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8523516	79334177	111820099	123	1638											
SMARCAD1	56916	broad.mit.edu	37	4	95198183	95198183	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:95198183G>A	ENST00000354268.4	+	16	2028	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.R222H|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R652H			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	652	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R652L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GCAAATAACCGTTTGCTGCTC	0.413																																						ENST00000354268.4											1	Substitution - Missense(1)	endometrium(1)	breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1954-1956)cGt>cAt	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						146	139	141					4																	95198183		2203	4300	6503	SO:0001583	missense	56916			chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95198183G>A	AB032948	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			2008-02-05			ENSG00000163104	ENSG00000163104	ENSG00000163104	ENSG00000163104				18398	18398	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612761	612761						11031099	11031099	Standard	Standard	NM_001128430	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	uc003htb.4	Q9H4L7	Q9H4L7	OTTHUMG00000130971	OTTHUMG00000130971	ENST00000354268.4:c.1955G>A	4.37:g.95198183G>A	ENSP00000346217:p.Arg652His		SMARCAD1_ENST00000509418.1_Missense_Mutation_p.R222H|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R652H	p.R652H			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	16	2028	+			652	Helicase ATP-binding.	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1955G>A	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247895	0.95305	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	5.24	5.24	0.73138	5.24	5.24	0.73138	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.47455	D	0.000223	D	0.98406	0.9470	H	0.94264	3.515	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71414	0.973;0.954	D	0.99581	1.0973	10	0.87932	D	0	-10.8601	18.8643	0.92285	0.0:0.0:1.0:0.0	.	652;652	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	H	652;652;652;222	ENSP00000351947:R652H;ENSP00000415576:R652H;ENSP00000346217:R652H;ENSP00000423286:R222H	ENSP00000346217:R652H	R	+	2	0	0	SMARCAD1	95417206	95417206	1.000000	0.71417	0.985000	0.45067	0.942000	0.58702	9.333000	0.96459	2.463000	0.83235	0.555000	0.69702	CGT		0.413	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1		-9.103287	-29	-29	83	83	NM_020159		5	10.983255	10.983255	90	0.052632	0	0	0	1	0	5	90	0.052632	A	95198183	G	A	95198183	3	1	80	1	0	0	0	0	1	0	0	0	14772	1145	40	1	2013	1	SMARCAD1	4	95198183	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15864006	95198183	95956093	124	1639											
UNC5C	8633	broad.mit.edu	37	4	96163728	96163728	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:96163728C>T	ENST00000453304.1	-	7	1308	c.960G>A	c.(958-960)acG>acA	p.T320T	UNC5C_ENST00000506749.1_Silent_p.T320T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	320	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGCTCCATGGCGTCCACCTGC	0.567																																						ENST00000453304.1											0			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(958-960)acG>acA	unc-5 homolog C (C. elegans)						26	21	23					4																	96163728		2203	4300	6503	SO:0001819	synonymous_variant	8633			apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163728C>T	AF055634	AF055634	CCDS3643.1	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168	ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	"Immunoglobulin superfamily / I-set domain containing"	12569	12569	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603610	603610	"unc5 (C.elegans homolog) c"		"unc5 (C.elegans homolog) c"			9126742, 9782087	9126742, 9782087	Standard	Standard	NM_003728	NM_003728		Approved		uc003hto.3	uc003hto.3	O95185	O95185	OTTHUMG00000130989	OTTHUMG00000130989	ENST00000453304.1:c.960G>A	4.37:g.96163728C>T			UNC5C_ENST00000506749.1_Silent_p.T320T	p.T320T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1308	-		Hepatocellular(203;0.114)	320	TSP type-1 2.	Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.960G>A	CCDS3643.1																																																																																									0.567	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1		21.421512	7	7	26	26	NM_003728		7	21.616008	21.616008	11	0.388889	0	0	0	1	0	7	11	0.388889	T	96163728	C	T	96163728	2	4	80	1	0	0	0	0	0	0	0	1	16990	755	27	1		1	UNC5C	4	96163728	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	965545	96163728	94990548	125	1640											
EGF	1950	broad.mit.edu	37	4	110882146	110882146	+	Splice_Site	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:110882146G>A	ENST00000265171.5	+	7	1634		c.e7+1		EGF_ENST00000509793.1_Splice_Site|EGF_ENST00000503392.1_Splice_Site	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor						activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CGATGTCATCGTAAGTTATAG	0.403																																						ENST00000265171.5											0			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.e7+1	epidermal growth factor						192	169	177					4																	110882146		2203	4300	6503	SO:0001630	splice_region_variant	1950			angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110882146G>A	X04571	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798	ENSG00000138798	ENSG00000138798				3229	3229	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			131530	131530	"epidermal growth factor (beta-urogastrone)"		"epidermal growth factor (beta-urogastrone)"					Standard	Standard	NM_001963	NM_001963		Approved		uc003hzy.4	uc003hzy.4	P01133	P01133	OTTHUMG00000132044	OTTHUMG00000132044	ENST00000265171.5:c.1189+1G>A	4.37:g.110882146G>A			EGF_ENST00000503392.1_Splice_Site|EGF_ENST00000509793.1_Splice_Site		NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	7	1634	+		Hepatocellular(203;0.0893)			B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Splice_Site	SNP	ENST00000265171.5	37		CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284818	0.40394	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	.	.	.	4.82	4.82	0.62117	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9396	0.89023	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	EGF	111101595	111101595	1.000000	0.71417	0.945000	0.38365	0.293000	0.27360	8.711000	0.91396	2.225000	0.72522	0.561000	0.74099	.		0.403	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		5.637207	6	6	93	93		Intron	8	18.683629	18.683629	73	0.098765	0	0	0	1	0	8	73	0.098765	A	110882146	G	A	110882146	5	1	80	1	0	0	0	0	0	0	1	0	4962	1159	40	1	1216	1	EGF	4	110882146	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14718418	110882146	80272130	126	1641											
C4orf32	132720	broad.mit.edu	37	4	113107979	113107979	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:113107979G>A	ENST00000309733.5	+	2	468	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	95						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TTTGGAGAACGAATAGTGGAA	0.413																																						ENST00000309733.5											0										c.(283-285)cGa>cAa	chromosome 4 open reading frame 32						246	233	237					4																	113107979		2203	4300	6503	SO:0001583	missense	132720				integral to membrane		g.chr4:113107979G>A	AK096689	AK096689	CCDS3695.1	CCDS3695.1	4q25	2008-02-05			2008-02-05			ENSG00000174749	ENSG00000174749	ENSG00000174749	ENSG00000174749				26813	26813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_152400	NM_152400		Approved	FLJ39370	uc003iah.2	uc003iah.2	Q8N8J7	Q8N8J7	OTTHUMG00000132851	OTTHUMG00000132851	ENST00000309733.5:c.284G>A	4.37:g.113107979G>A	ENSP00000310182:p.Arg95Gln			p.R95Q	NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	2	468	+		Ovarian(17;0.156)			Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	37	c.284G>A	CCDS3695.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.501929	0.44455	.	.	ENSG00000174749	ENST00000309733	T	0.48522	0.81	5.71	3.92	0.45320	5.71	3.92	0.45320	.	0.345720	0.31589	N	0.007398	T	0.29491	0.0735	N	0.22421	0.69	0.43137	D	0.994883	B	0.26258	0.145	B	0.17722	0.019	T	0.06058	-1.0848	10	0.20046	T	0.44	-2.9118	9.6288	0.39768	0.0751:0.0:0.7831:0.1418	.	95	Q8N8J7	CD032_HUMAN	Q	95	ENSP00000310182:R95Q	ENSP00000310182:R95Q	R	+	2	0	0	C4orf32	113327428	113327428	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	3.202000	0.51067	0.698000	0.31739	0.585000	0.79938	CGA		0.413	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2		58.067861	-18	-18	178	178	NM_152400		26	70.817709	70.817709	113	0.18705	0	0	0	1	0	26	113	0.18705	A	113107979	G	A	113107979	3	1	80	1	0	0	0	0	1	0	0	0	2262	1058	37	1	290	1	C4orf32	4	113107979	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2225833	113107979	78046297	127	1642											
ANKRD50	57182	broad.mit.edu	37	4	125592546	125592546	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:125592546G>A	ENST00000504087.1	-	4	2923	c.1886C>T	c.(1885-1887)gCa>gTa	p.A629V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A450V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	629										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATAAAGTAGTGCAGAAACTAC	0.453																																						ENST00000504087.1											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(1885-1887)gCa>gTa	ankyrin repeat domain 50						127	116	120					4																	125592546		2203	4300	6503	SO:0001583	missense	57182						g.chr4:125592546G>A	AB033049	AB033049	CCDS34060.1, CCDS54802.1	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			2013-01-10			ENSG00000151458	ENSG00000151458	ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	29223	29223	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_020337	NM_020337		Approved	KIAA1223	uc010inw.3	uc010inw.3	Q9ULJ7	Q9ULJ7	OTTHUMG00000161398	OTTHUMG00000161398	ENST00000504087.1:c.1886C>T	4.37:g.125592546G>A	ENSP00000425658:p.Ala629Val		ANKRD50_ENST00000515641.1_Missense_Mutation_p.A450V	p.A629V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	2923	-			629		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1886C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.514877	0.27123	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64618	-0.11;-0.06	5.21	5.21	0.72293	5.21	5.21	0.72293	Ankyrin repeat-containing domain (4);	0.130432	0.50627	D	0.000115	T	0.52208	0.1720	N	0.10809	0.05	0.80722	D	1	P	0.45986	0.87	P	0.46718	0.525	T	0.54984	-0.8211	10	0.35671	T	0.21	.	18.9425	0.92610	0.0:0.0:1.0:0.0	.	629	Q9ULJ7	ANR50_HUMAN	V	629;450	ENSP00000425658:A629V;ENSP00000425355:A450V	ENSP00000425658:A629V	A	-	2	0	0	ANKRD50	125811996	125811996	1.000000	0.71417	0.813000	0.32504	0.342000	0.28953	7.095000	0.76952	2.714000	0.92807	0.585000	0.79938	GCA		0.453	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1		84.024732	-9	-9	93	93	NM_020337		30	85.028998	85.028998	49	0.379747	0	0	0	1	0	30	49	0.379747	A	125592546	G	A	125592546	3	1	80	1	0	0	0	0	1	0	0	0	677	1319	46	2	2407	2	ANKRD50	4	125592546	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	12484567	125592546	65561730	128	1643											
ELMOD2	255520	broad.mit.edu	37	4	141461345	141461345	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:141461345G>A	ENST00000323570.3	+	6	555	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	141	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAATGCCCACGAAGAAGTTAA	0.368																																						ENST00000323570.3											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(421-423)acG>acA	ELMO/CED-12 domain containing 2						92	89	90					4																	141461345		2203	4300	6503	SO:0001819	synonymous_variant	255520			phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141461345G>A	BX648349	BX648349	CCDS3752.1	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387	ENSG00000179387	ENSG00000179387				28111	28111	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610196	610196	"ELMO domain containing 2"		"ELMO domain containing 2"			16773575	16773575	Standard	Standard	NM_153702	NM_153702		Approved	MGC10084	uc003iik.3	uc003iik.3	Q8IZ81	Q8IZ81	OTTHUMG00000133417	OTTHUMG00000133417	ENST00000323570.3:c.423G>A	4.37:g.141461345G>A				p.T141T	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN			6	555	+	all_hematologic(180;0.162)		141	ELMO.	B2R712|D3DNZ0	Silent	SNP	ENST00000323570.3	37	c.423G>A	CCDS3752.1																																																																																									0.368	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2		2.972564	3	3	54	54	NM_153702		4	9.36423	9.36423	36	0.1	0	0	0	1	0	4	36	0.1	A	141461345	G	A	141461345	2	1	80	1	0	0	0	0	0	0	0	1	5069	1045	37	1		1	ELMOD2	4	141461345	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15868799	141461345	49692931	129	1644											
OTUD4	54726	broad.mit.edu	37	4	146058662	146058662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:146058662G>A	ENST00000447906.2	-	21	3452	c.3265C>T	c.(3265-3267)Cga>Tga	p.R1089*	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Nonsense_Mutation_p.R1024*			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1089					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGACATTTCGATGGTACTGA	0.502																																						ENST00000454497.2											0			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3070-3072)Cga>Tga	OTU domain containing 4						119	117	118					4																	146058662		2202	4286	6488	SO:0001587	stop_gained	54726					protein binding	g.chr4:146058662G>A			CCDS3764.1, CCDS47139.1	CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164	ENSG00000164164	ENSG00000164164		"OTU domain containing"	"OTU domain containing"	24949	24949	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611744	611744	"OTU domain containing 4"		"OTU domain containing 4"			1475186, 12727813, 19996094	1475186, 12727813, 19996094	Standard	Standard	NM_001102653	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	uc003ika.4	Q01804	Q01804	OTTHUMG00000161480	OTTHUMG00000161480	ENST00000447906.2:c.3265C>T	4.37:g.146058662G>A	ENSP00000395487:p.Arg1089*		OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Nonsense_Mutation_p.R1089*	p.R1024*	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	3207	-	all_hematologic(180;0.151)		1088		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Nonsense_Mutation	SNP	ENST00000447906.2	37	c.3070C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.072272	0.97256	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4152	17.0623	0.86550	0.0:0.0:0.8725:0.1275	.	.	.	.	X	1024;1089	.	ENSP00000395487:R1089X	R	-	1	2	2	OTUD4	146278112	146278112	1.000000	0.71417	0.946000	0.38457	0.338000	0.28826	4.963000	0.63694	2.941000	0.99782	0.655000	0.94253	CGA		0.502	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		45.306948	-33	-33	96	96	NM_017493		21	55.76106	55.76106	92	0.185841	0	0	0	1	0	21	92	0.185841	A	146058662	G	A	146058662	4	1	80	1	0	0	0	0	0	1	0	0	11314	1066	37	1	83	1	OTUD4	4	146058662	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4597317	146058662	45095614	130	1645											
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4		Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	47	Substitution - Missense(46)|Unknown(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cAa	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						85	80	82					4																	153247366		2203	4299	6502	SO:0001583	missense	0			interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>T	AF411971	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23		2013-01-09	2012-02-23							"F-boxes / WD-40 domains", "WD repeat domain containing"	"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	16712	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	"archipelago homolog (Drosophila)"	606278	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"		"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	10531037, 11425854	Standard	Standard	NM_018315	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	uc003ims.3	Q969H0	Q969H0			ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln		FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q	p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	0	FBXW7	153466816	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		12.728966	-4	-4	54	54			6	16.300053	16.300053	29	0.171429	0	0	0	1	0	6	29	0.171429	T	153247366	C	T	153247366	3	4	80	1	0	0	0	0	1	0	0	0	5769	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7188704	153247366	37906910	131	1646											
LRP2BP	55805	broad.mit.edu	37	4	186295495	186295495	+	Nonsense_Mutation	SNP	G	G	A	rs201973995	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:186295495G>A	ENST00000328559.7	-	4	1262	c.451C>T	c.(451-453)Cga>Tga	p.R151*	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*|LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000362004.3_Nonsense_Mutation_p.R153*	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	151						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCATTTGATCGTTTAACACCT	0.388													G|||	2	0.000399361	0.0015	0	5008	,	,		19990	0		0	False		,,,				2504	0					ENST00000362004.3											0			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(457-459)Cga>Tga	LRP2 binding protein	G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	180	170	173		451	4.7	0.2	4		173	0,8600		0,0,4300	yes	stop-gained	LRP2BP	NM_018409.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		151/348	186295495	2,13004	2203	4300	6503	SO:0001587	stop_gained	55805				cytoplasm	protein binding	g.chr4:186295495G>A	AB037746	AB037746	CCDS3840.1	CCDS3840.1	4q35.1	2011-05-03			2011-05-03			ENSG00000109771	ENSG00000109771	ENSG00000109771	ENSG00000109771				25434	25434	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10718198, 12508107	10718198, 12508107	Standard	Standard	NM_018409	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	uc003ixj.2	Q9P2M1	Q9P2M1	OTTHUMG00000160460	OTTHUMG00000160460	ENST00000328559.7:c.451C>T	4.37:g.186295495G>A	ENSP00000332681:p.Arg151*		RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*|LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000328559.7_Nonsense_Mutation_p.R151*	p.R153*			Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	4	1268	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	151		A6NJR7|A7E219|B3KX83|Q9NSN6	Nonsense_Mutation	SNP	ENST00000328559.7	37	c.457C>T	CCDS3840.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	50	16.899404	0.99874	4.54E-4	0.0	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916;ENST00000511404	.	.	.	5.56	4.66	0.58398	5.56	4.66	0.58398	.	0.348304	0.28109	N	0.016572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-5.8142	13.9676	0.64218	0.0:0.0:0.6787:0.3213	.	.	.	.	X	153;151;125;151;151	.	ENSP00000332681:R151X	R	-	1	2	2	LRP2BP	186532489	186532489	0.081000	0.21417	0.205000	0.23548	0.678000	0.39670	2.278000	0.43426	1.304000	0.44892	0.563000	0.77884	CGA		0.388	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2		77.565604	-25	-25	80	80	NM_018409		25	77.998302	77.998302	36	0.409836	0	0	0	1	0	25	36	0.409836	A	186295495	G	A	186295495	4	1	80	1	0	0	0	0	0	1	0	0	8957	1153	40	1	612	1	LRP2BP	4	186295495	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	33048129	186295495	4858781	132	1647											
SLC9A3	6550	broad.mit.edu	37	5	476456	476456	+	Missense_Mutation	SNP	G	G	A	rs150973602	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:476456G>A	ENST00000264938.3	-	13	1937	c.1928C>T	c.(1927-1929)aCg>aTg	p.T643M	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.T634M|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	643	Interaction with PDZD3. {ECO:0000250}.				ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTCGTCCTCCGTGGGCGTGAG	0.612																																						ENST00000264938.3											0			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1927-1929)aCg>aTg	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	119	117	118		1928	-6.5	0	5	dbSNP_134	118	0,8600		0,0,4300	no	missense	SLC9A3	NM_004174.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	643/835	476456	1,13005	2203	4300	6503	SO:0001583	missense	6550				cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476456G>A			CCDS3855.1, CCDS64116.1	CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230	ENSG00000066230	ENSG00000066230		"Solute carriers"	"Solute carriers"	11073	11073	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			182307	182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	8096830	Standard	Standard	NM_004174	NM_004174		Approved		uc003jbe.2	uc003jbe.2	P48764	P48764	OTTHUMG00000090315	OTTHUMG00000090315	ENST00000264938.3:c.1928C>T	5.37:g.476456G>A	ENSP00000264938:p.Thr643Met		CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.T634M	p.T643M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	1937	-			643	Interaction with PDZD3 (By similarity).	B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1928C>T	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270121	0.23221	2.27E-4	0.0	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.77358	-1.09;-1.09	4.85	-6.47	0.01902	4.85	-6.47	0.01902	.	1.774650	0.02765	N	0.119060	T	0.61198	0.2328	N	0.22421	0.69	0.09310	N	1	D;P	0.57571	0.98;0.923	B;B	0.40329	0.326;0.266	T	0.64812	-0.6319	10	0.66056	D	0.02	.	6.968	0.24632	0.0:0.3441:0.2995:0.3565	.	634;643	E9PF67;P48764	.;SL9A3_HUMAN	M	643;634	ENSP00000264938:T643M;ENSP00000422983:T634M	ENSP00000264938:T643M	T	-	2	0	0	SLC9A3	529456	529456	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.709000	0.05030	-1.541000	0.01727	-0.499000	0.04595	ACG		0.612	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		113.363144	-31	-31	130	130	NM_004174		37	113.673254	113.673254	48	0.435294	0	0	0	1	0	37	48	0.435294	A	476456	G	A	476456	3	1	80	1	0	0	0	0	1	0	0	0	14713	1145	40	1	596	1	SLC9A3	5	476456	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		476456	180438804	133	1648											
LPCAT1	79888	broad.mit.edu	37	5	1501684	1501684	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:1501684C>T	ENST00000283415.3	-	2	302	c.170G>A	c.(169-171)cGg>cAg	p.R57Q		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	57					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AACCAGGAGCCGGACCGGGAA	0.662																																						ENST00000283415.3											0			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(169-171)cGg>cAg	lysophosphatidylcholine acyltransferase 1						42	50	47					5																	1501684		2202	4300	6502	SO:0001583	missense	79888			phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1501684C>T	BC020166	BC020166	CCDS3864.1	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	"EF-hand domain containing"	25718	25718	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610472	610472	"acyltransferase like 2"	AYTL2	"acyltransferase like 2"	AYTL2		8619474, 16704971	8619474, 16704971	Standard	Standard	NM_024830	NM_024830		Approved	FLJ12443	uc003jcm.3	uc003jcm.3	Q8NF37	Q8NF37	OTTHUMG00000131017	OTTHUMG00000131017	ENST00000283415.3:c.170G>A	5.37:g.1501684C>T	ENSP00000283415:p.Arg57Gln			p.R57Q	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	2	302	-			57		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	c.170G>A	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426510	0.62733	.	.	ENSG00000153395	ENST00000283415	D	0.81499	-1.5	4.35	4.35	0.52113	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92555	0.6053	10	0.87932	D	0	-29.7716	16.8769	0.86054	0.0:1.0:0.0:0.0	.	57	Q8NF37	PCAT1_HUMAN	Q	57	ENSP00000283415:R57Q	ENSP00000283415:R57Q	R	-	2	0	0	LPCAT1	1554684	1554684	1.000000	0.71417	0.990000	0.47175	0.047000	0.14425	6.984000	0.76186	1.970000	0.57323	0.491000	0.48974	CGG		0.662	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1		28.148746	9	9	78	78	NM_024830		10	29.144593	29.144593	22	0.3125	0	0	0	1	0	10	22	0.3125	T	1501684	C	T	1501684	3	4	80	1	0	0	0	0	1	0	0	0	8910	652	23	1	1486	1	LPCAT1	5	1501684	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1025228	1501684	179413576	134	1649											
TRIO	7204	broad.mit.edu	37	5	14508349	14508349	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:14508349C>T	ENST00000344204.4	+	57	9136	c.9112C>T	c.(9112-9114)Cgt>Tgt	p.R3038C	TRIO_ENST00000344135.5_Missense_Mutation_p.R537C|TRIO_ENST00000537187.1_Missense_Mutation_p.R2862C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3038	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCCGCCAAGCGTCCCTCGGC	0.602																																						ENST00000344204.4											0			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(9112-9114)Cgt>Tgt	trio Rho guanine nucleotide exchange factor						50	55	53					5																	14508349		2203	4300	6503	SO:0001583	missense	7204			apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14508349C>T	AF091395	AF091395	CCDS3883.1	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	12303	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601893	601893	"triple functional domain (PTPRF interacting)"		"triple functional domain (PTPRF interacting)"			8643598	8643598	Standard	Standard	NM_007118	NM_007118		Approved	ARHGEF23	uc003jff.3	uc003jff.3	O75962	O75962	OTTHUMG00000131057	OTTHUMG00000131057	ENST00000344204.4:c.9112C>T	5.37:g.14508349C>T	ENSP00000339299:p.Arg3038Cys		TRIO_ENST00000537187.1_Missense_Mutation_p.R2862C|TRIO_ENST00000344135.5_Missense_Mutation_p.R537C	p.R3038C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			57	9136	+	Lung NSC(4;0.000742)		3038	Protein kinase.	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.9112C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634843	0.67130	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.80738	-1.41;-1.41;-1.41	5.72	4.84	0.62591	5.72	4.84	0.62591	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	D	0.94486	0.8225	H	0.99545	4.62	0.43782	D	0.99631	D	0.89917	1.0	D	0.97110	1.0	D	0.96936	0.9684	10	0.87932	D	0	.	15.8619	0.79032	0.1368:0.8632:0.0:0.0	.	3038	O75962	TRIO_HUMAN	C	3038;2862;537	ENSP00000339299:R3038C;ENSP00000446348:R2862C;ENSP00000339291:R537C	ENSP00000339291:R537C	R	+	1	0	0	TRIO	14561349	14561349	1.000000	0.71417	0.631000	0.29282	0.996000	0.88848	3.163000	0.50763	1.366000	0.46076	0.650000	0.86243	CGT		0.602	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		7.349508	-19	-19	62	62	NM_007118		5	12.361605	12.361605	33	0.131579	0	0	0	1	0	5	33	0.131579	T	14508349	C	T	14508349	3	4	80	1	0	0	0	0	1	0	0	0	16549	768	27	1	9338	1	TRIO	5	14508349	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13006665	14508349	166406911	135	1650											
CDH18	1016	broad.mit.edu	37	5	19721471	19721471	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:19721471C>T	ENST00000507958.1	-	7	1618	c.628G>A	c.(628-630)Gtc>Atc	p.V210I	CDH18_ENST00000506372.1_Missense_Mutation_p.V210I|CDH18_ENST00000502796.1_Missense_Mutation_p.V210I|CDH18_ENST00000274170.4_Missense_Mutation_p.V210I|CDH18_ENST00000382275.1_Missense_Mutation_p.V210I|CDH18_ENST00000511273.1_Missense_Mutation_p.V210I			Q13634	CAD18_HUMAN	cadherin 18, type 2	210	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V210I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAGGGTCGACGGAGAAGTAG	0.448																																						ENST00000507958.1											1	Substitution - Missense(1)	large_intestine(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(628-630)Gtc>Atc	cadherin 18, type 2						167	147	154					5																	19721471		2203	4300	6503	SO:0001583	missense	1016			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19721471C>T	U59325	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			2010-01-26			ENSG00000145526	ENSG00000145526	ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	"Cadherins / Major cadherins"	1757	1757	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603019	603019						9030594, 10191097	9030594, 10191097	Standard	Standard	NM_004934	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	uc003jgd.3	Q13634	Q13634	OTTHUMG00000090578	OTTHUMG00000090578	ENST00000507958.1:c.628G>A	5.37:g.19721471C>T	ENSP00000425093:p.Val210Ile		CDH18_ENST00000506372.1_Missense_Mutation_p.V210I|CDH18_ENST00000511273.1_Missense_Mutation_p.V210I|CDH18_ENST00000502796.1_Missense_Mutation_p.V210I|CDH18_ENST00000382275.1_Missense_Mutation_p.V210I|CDH18_ENST00000274170.4_Missense_Mutation_p.V210I	p.V210I			Q13634	CAD18_HUMAN			7	1618	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		210	Cadherin 2.	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.628G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.885980	0.51908	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.5	5.5	0.81552	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.39036	0.1063	N	0.02985	-0.445	0.58432	D	0.999996	B;D	0.89917	0.346;1.0	B;D	0.65443	0.122;0.935	T	0.49688	-0.8913	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	210;210	B4DHG6;Q13634	.;CAD18_HUMAN	I	210;210;210;210;210;210;156;210	ENSP00000371710:V210I;ENSP00000425093:V210I;ENSP00000274170:V210I;ENSP00000424931:V210I;ENSP00000422138:V210I;ENSP00000427383:V156I;ENSP00000425854:V210I	.	V	-	1	0	0	CDH18	19757228	19757228	1.000000	0.71417	0.973000	0.42090	0.311000	0.27955	5.986000	0.70563	2.571000	0.86741	0.650000	0.86243	GTC		0.448	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1		3.584844	-5	-5	117	117	NM_004934		9	19.068723	19.068723	85	0.095745	0	0	0	1	0	9	85	0.095745	T	19721471	C	T	19721471	3	4	80	1	0	0	0	0	1	0	0	0	3103	536	19	1	1780	1	CDH18	5	19721471	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5213122	19721471	161193789	136	1651											
PDZD2	23037	broad.mit.edu	37	5	32090677	32090677	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:32090677G>A	ENST00000438447.1	+	20	7511	c.7123G>A	c.(7123-7125)Ggc>Agc	p.G2375S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2375S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2375					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCGGTCTTCCGGCAGCATTGT	0.597																																						ENST00000438447.1											0			NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(7123-7125)Ggc>Agc	PDZ domain containing 2						33	36	35					5																	32090677		2203	4300	6503	SO:0001583	missense	23037			cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090677G>A	AB002298	AB002298	CCDS34137.1	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401		ENSG00000133401				18486	18486	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610697	610697	"PDZ domain containing 3"	PDZK3	"PDZ domain containing 3"	PDZK3		9205841	9205841	Standard	Standard	XM_005248271	XM_005248271		Approved	KIAA0300	uc003jhm.3	uc003jhm.3	O15018	O15018			ENST00000438447.1:c.7123G>A	5.37:g.32090677G>A	ENSP00000402033:p.Gly2375Ser		PDZD2_ENST00000282493.3_Missense_Mutation_p.G2375S	p.G2375S			O15018	PDZD2_HUMAN			20	7511	+			2375		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.7123G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363700	0.61513	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.54675	0.56;0.56	5.15	4.28	0.50868	5.15	4.28	0.50868	.	0.120727	0.37955	N	0.001864	T	0.67785	0.2930	M	0.71581	2.175	0.39987	D	0.974999	D	0.89917	1.0	D	0.91635	0.999	T	0.67063	-0.5765	10	0.27785	T	0.31	.	11.3637	0.49660	0.0887:0.0:0.9113:0.0	.	2375	O15018	PDZD2_HUMAN	S	2375;2176;2375	ENSP00000402033:G2375S;ENSP00000282493:G2375S	ENSP00000282493:G2375S	G	+	1	0	0	PDZD2	32126434	32126434	1.000000	0.71417	0.633000	0.29310	0.233000	0.25261	3.440000	0.52886	1.159000	0.42565	0.561000	0.74099	GGC		0.597	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		10.825999	7	7	47	47			6	15.521943	15.521943	34	0.15	0	0	0	1	0	6	34	0.15	A	32090677	G	A	32090677	3	1	80	1	0	0	0	0	1	0	0	0	11701	1116	39	1	7197	1	PDZD2	5	32090677	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	12369206	32090677	148824583	137	1652											
ITGA2	3673	broad.mit.edu	37	5	52358678	52358678	+	Silent	SNP	C	C	T	rs371281604		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:52358678C>T	ENST00000296585.5	+	13	1664	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	507					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCATTACAGACGTGCTCTTGG	0.368																																						ENST00000296585.5											0			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1519-1521)gaC>gaT	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	C		0,4406		0,0,2203	186	172	177		1521	0.8	1	5		177	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGA2	NM_002203.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		507/1182	52358678	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3673			axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52358678C>T			CCDS3957.1	CCDS3957.1	5q11.2	2010-03-23			2010-03-23			ENSG00000164171	ENSG00000164171	ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	"CD molecules", "Integrins"	6137	6137	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			192974	192974		CD49B		CD49B				Standard	Standard	NM_002203	NM_002203		Approved	CD49b	uc003joy.3	uc003joy.3	P17301	P17301	OTTHUMG00000131165	OTTHUMG00000131165	ENST00000296585.5:c.1521C>T	5.37:g.52358678C>T				p.D507D	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			13	1664	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	507		Q14595	Silent	SNP	ENST00000296585.5	37	c.1521C>T	CCDS3957.1																																																																																									0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2		95.478484	-1	-1	119	119	NM_002203		29	95.514119	95.514119	26	0.527273	0	0	0	1	0	29	26	0.527273	T	52358678	C	T	52358678	2	4	80	1	0	0	0	0	0	0	0	1	7875	535	19	1		1	ITGA2	5	52358678	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	20268001	52358678	128556582	138	1653											
CDC20B	166979	broad.mit.edu	37	5	54420729	54420729	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:54420729C>T	ENST00000381375.2	-	9	1262	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.G373S|CDC20B_ENST00000296733.1_Missense_Mutation_p.G373S			Q86Y33	CD20B_HUMAN	cell division cycle 20B	373										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TCACTGCAGCCGCTGGAAAGC	0.567																																						ENST00000296733.1											0			kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(1117-1119)Ggc>Agc	cell division cycle 20B						113	100	104					5																	54420729		2203	4300	6503	SO:0001583	missense	166979						g.chr5:54420729C>T	AB086378	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287	ENSG00000164287	ENSG00000164287		"WD repeat domain containing"	"WD repeat domain containing"	24222	24222	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"		"CDC20 cell division cycle 20 homolog B (S. cerevisiae)", "cell division cycle 20 homolog B (S. cerevisiae)"					Standard	Standard	NM_152623	NM_152623		Approved	FLJ37927	uc003jpo.2	uc003jpo.2	Q86Y33	Q86Y33	OTTHUMG00000131185	OTTHUMG00000131185	ENST00000381375.2:c.1117G>A	5.37:g.54420729C>T	ENSP00000370781:p.Gly373Ser		CDC20B_ENST00000381375.2_Missense_Mutation_p.G373S|CDC20B_ENST00000322374.6_Missense_Mutation_p.G373S|CDC20B_ENST00000334206.5_3'UTR	p.G373S	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		9	1291	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	373		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.1117G>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886946	0.91814	.	.	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.69806	-0.43;-0.43;-0.43	4.66	4.66	0.58398	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.43260	D	0.000589	T	0.80706	0.4674	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83243	-0.0057	10	0.87932	D	0	-27.0194	17.3439	0.87305	0.0:1.0:0.0:0.0	.	373;373;373	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	S	373	ENSP00000296733:G373S;ENSP00000370781:G373S;ENSP00000315720:G373S	ENSP00000296733:G373S	G	-	1	0	0	CDC20B	54456486	54456486	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	3.443000	0.52907	2.402000	0.81655	0.650000	0.86243	GGC		0.567	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1		11.824914	-15	-15	88	88	NM_152623		9	22.20259	22.20259	65	0.121622	0	0	0	1	0	9	65	0.121622	T	54420729	C	T	54420729	3	4	80	1	0	0	0	0	1	0	0	0	3060	652	23	1	458	1	CDC20B	5	54420729	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2062051	54420729	126494531	139	1654											
GAPT	202309	broad.mit.edu	37	5	57790685	57790685	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:57790685G>A	ENST00000396776.2	+	3	784	c.322G>A	c.(322-324)Gat>Aat	p.D108N	GAPT_ENST00000318469.2_Missense_Mutation_p.D108N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	108					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGGAAAAACCGATAAGGAACT	0.418																																						ENST00000396776.2											0			NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(322-324)Gat>Aat	GRB2-binding adaptor protein, transmembrane						77	79	78					5																	57790685		2203	4300	6503	SO:0001583	missense	202309			B cell activation	integral to membrane|plasma membrane		g.chr5:57790685G>A	AK090960	AK090960	CCDS3975.1	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857	ENSG00000175857	ENSG00000175857				26588	26588	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"GRB2-binding transmembrane adaptor"	"GRB2-binding transmembrane adaptor"			"chromosome 5 open reading frame 29"	C5orf29	"chromosome 5 open reading frame 29"	C5orf29				Standard	Standard	NM_152687	NM_152687		Approved	FLJ33641	uc003jro.1	uc003jro.1	Q8N292	Q8N292	OTTHUMG00000131219	OTTHUMG00000131219	ENST00000396776.2:c.322G>A	5.37:g.57790685G>A	ENSP00000379997:p.Asp108Asn		GAPT_ENST00000318469.2_Missense_Mutation_p.D108N	p.D108N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN			3	784	+			108			Missense_Mutation	SNP	ENST00000396776.2	37	c.322G>A	CCDS3975.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494661	0.26774	.	.	ENSG00000175857	ENST00000396776;ENST00000318469	T;T	0.51071	0.72;0.72	5.05	1.33	0.21861	5.05	1.33	0.21861	.	1.755270	0.02719	N	0.113789	T	0.33206	0.0855	N	0.14661	0.345	0.09310	N	1	B	0.25206	0.12	B	0.21151	0.033	T	0.31308	-0.9948	10	0.66056	D	0.02	0.0312	7.1449	0.25577	0.3584:0.0:0.6416:0.0	.	108	Q8N292	GAPT_HUMAN	N	108	ENSP00000379997:D108N;ENSP00000323075:D108N	ENSP00000323075:D108N	D	+	1	0	0	GAPT	57826442	57826442	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.112000	0.15479	0.125000	0.18397	0.655000	0.94253	GAT		0.418	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1		-4.520047	-25	-25	58	58	NM_152687		3	6.702063	6.702063	51	0.055556	0	0	0	1	0	3	51	0.055556	A	57790685	G	A	57790685	3	1	80	1	0	0	0	0	1	0	0	0	6238	1058	37	1	324	1	GAPT	5	57790685	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3369956	57790685	123124575	140	1655											
ATP6AP1L	92270	broad.mit.edu	37	5	81608483	81608483	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:81608483G>A	ENST00000380167.4	+	9	1510	c.185G>A	c.(184-186)cGc>cAc	p.R62H	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.R62H|ATP6AP1L_ENST00000508366.1_3'UTR			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	62					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TTTAGTTTGCGCCGAGTCGAG	0.438											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380167.4											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						c.(184-186)cGc>cAc	ATPase, H+ transporting, lysosomal accessory protein 1-like						196	190	192					5																	81608483		2203	4300	6503	SO:0001583	missense	92270			ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81608483G>A	AK022625	AK022625	CCDS34196.1	CCDS34196.1	5q14.2	2010-03-10			2010-03-10				ENSG00000205464		ENSG00000205464				28091	28091	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XR_112744	XR_112744		Approved		uc003khw.3	uc003khw.3	Q52LC2	Q52LC2			ENST00000380167.4:c.185G>A	5.37:g.81608483G>A	ENSP00000369513:p.Arg62His	1207	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.R62H|ATP6AP1L_ENST00000508366.1_3'UTR	p.R62H			Q52LC2	VAS1L_HUMAN			9	1510	+			62			Missense_Mutation	SNP	ENST00000380167.4	37	c.185G>A	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	G	5.379	0.255166	0.10185	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.68	3.32	0.38043	5.68	3.32	0.38043	.	0.340897	0.31685	N	0.007234	T	0.16171	0.0389	N	0.01464	-0.85	0.29384	N	0.863128	B	0.02656	0.0	B	0.01281	0.0	T	0.15607	-1.0431	9	0.11182	T	0.66	.	13.2407	0.59995	0.9309:0.0:0.0691:0.0	.	62	Q52LC2	VAS1L_HUMAN	H	62	.	ENSP00000369513:R62H	R	+	2	0	0	ATP6AP1L	81644239	81644239	1.000000	0.71417	0.565000	0.28409	0.001000	0.01503	3.980000	0.56895	0.440000	0.26502	-1.074000	0.02243	CGC		0.438	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3		-14.181744	-31	-31	106	106	NM_001017971		4	7.494964	7.494964	92	0.041667	0	0	0	1	0	4	92	0.041667	A	81608483	G	A	81608483	3	1	80	1	0	0	0	0	1	0	0	0	1166	1087	38	1	195	1	ATP6AP1L	5	81608483	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	23817798	81608483	99306777	141	1656											
TTC37	9652	broad.mit.edu	37	5	94858978	94858978	+	Missense_Mutation	SNP	G	G	A	rs143193581	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:94858978G>A	ENST00000358746.2	-	18	1983	c.1685C>T	c.(1684-1686)aCg>aTg	p.T562M	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	562						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCATTTTGCCGTTCCAGCACT	0.358																																						ENST00000358746.2											0			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1684-1686)aCg>aTg	tetratricopeptide repeat domain 37	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	200	196	197		1685	4.9	1	5	dbSNP_134	197	0,8600		0,0,4300	no	missense	TTC37	NM_014639.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	562/1565	94858978	2,13004	2203	4300	6503	SO:0001583	missense	9652					binding	g.chr5:94858978G>A	AB002370	AB002370	CCDS4072.1	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	23639	23639	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614589	614589	"KIAA0372"	KIAA0372	"KIAA0372"	KIAA0372		9205841	9205841	Standard	Standard	NM_014639	NM_014639		Approved		uc003klb.3	uc003klb.3	Q6PGP7	Q6PGP7	OTTHUMG00000121165	OTTHUMG00000121165	ENST00000358746.2:c.1685C>T	5.37:g.94858978G>A	ENSP00000351596:p.Thr562Met			p.T562M	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			18	1983	-			562		O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1685C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138036	0.77775	4.54E-4	0.0	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.76060	0.71;-0.99	4.88	4.88	0.63580	4.88	4.88	0.63580	Tetratricopeptide repeat-containing (1);	0.207799	0.42964	D	0.000623	T	0.73305	0.3570	L	0.29908	0.895	0.28657	N	0.906322	D;D	0.55385	0.971;0.959	P;P	0.53722	0.733;0.564	T	0.70178	-0.4943	10	0.51188	T	0.08	.	14.8409	0.70223	0.0:0.1444:0.8556:0.0	.	514;562	D6RCE2;Q6PGP7	.;TTC37_HUMAN	M	562;514	ENSP00000351596:T562M;ENSP00000423742:T514M	ENSP00000351596:T562M	T	-	2	0	0	TTC37	94884734	94884734	0.984000	0.35163	0.967000	0.41034	0.975000	0.68041	3.518000	0.53451	2.402000	0.81655	0.557000	0.71058	ACG		0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1		223.034262	-8	-8	238	238	NM_014639		70	223.434575	223.434575	87	0.44586	0	0	0	1	0	70	87	0.44586	A	94858978	G	A	94858978	3	1	80	1	0	0	0	0	1	0	0	0	16702	1145	40	1	3113	1	TTC37	5	94858978	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	13250495	94858978	86056282	142	1657											
ERAP2	64167	broad.mit.edu	37	5	96219534	96219534	+	Missense_Mutation	SNP	G	G	A	rs73150323	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:96219534G>A	ENST00000437043.3	+	3	1325	c.614G>A	c.(613-615)cGc>cAc	p.R205H	ERAP2_ENST00000379904.4_Missense_Mutation_p.R205H|ERAP2_ENST00000510309.1_Missense_Mutation_p.R205H|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	205					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ACCCAGGCACGCATGGCTTTC	0.438													G|||	2	0.000399361	0.0015	0	5008	,	,		20307	0		0	False		,,,				2504	0					ENST00000437043.3											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(613-615)cGc>cAc	endoplasmic reticulum aminopeptidase 2	G	HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	89	83	86		614,614	3.3	0	5	dbSNP_130	86	0,8600		0,0,4300	yes	missense,missense	ERAP2	NM_001130140.1,NM_022350.3	29,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	205/961,205/961	96219534	4,13002	2203	4300	6503	SO:0001583	missense	64167			antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96219534G>A	AF191545	AF191545	CCDS4086.1	CCDS4086.1	5q15	2007-11-21			2007-11-21			ENSG00000164308	ENSG00000164308	ENSG00000164308	ENSG00000164308				29499	29499	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	"leukocyte-derived arginine aminopeptidase"	609497	609497						12799365, 15908954	12799365, 15908954	Standard	Standard	NM_022350	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	uc003kmt.3	Q6P179	Q6P179	OTTHUMG00000128718	OTTHUMG00000128718	ENST00000437043.3:c.614G>A	5.37:g.96219534G>A	ENSP00000400376:p.Arg205His		ERAP2_ENST00000510309.1_Missense_Mutation_p.R205H|ERAP2_ENST00000379904.4_Missense_Mutation_p.R205H|CTD-2260A17.2_ENST00000501338.1_Intron	p.R205H	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	3	1325	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	205		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.614G>A	CCDS4086.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	24.3	4.521248	0.85600	9.08E-4	0.0	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.11063	2.87;2.87;2.87;2.81;2.87	5.13	3.26	0.37387	5.13	3.26	0.37387	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.178796	0.36854	N	0.002371	T	0.49813	0.1579	H	0.99368	4.535	0.39718	D	0.971428	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65030	-0.6267	10	0.87932	D	0	.	9.8843	0.41253	0.1812:0.0:0.8188:0.0	.	205;205	Q6P179-3;Q6P179	.;ERAP2_HUMAN	H	205	ENSP00000400376:R205H;ENSP00000421175:R205H;ENSP00000421849:R205H;ENSP00000369235:R205H;ENSP00000425758:R205H	ENSP00000369235:R205H	R	+	2	0	0	ERAP2	96245290	96245290	0.888000	0.30383	0.011000	0.14972	0.962000	0.63368	4.905000	0.63286	0.593000	0.29745	0.557000	0.71058	CGC		0.438	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2		47.157135	-7	-7	61	61	NM_022350		17	48.412201	48.412201	34	0.333333	0	0	0	1	0	17	34	0.333333	A	96219534	G	A	96219534	3	1	80	1	0	0	0	0	1	0	0	0	5204	1087	38	1	620	1	ERAP2	5	96219534	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1360556	96219534	84695726	143	1658											
SLC27A6	28965	broad.mit.edu	37	5	128363005	128363005	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:128363005C>T	ENST00000262462.4	+	7	2445	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C	SLC27A6_ENST00000506176.1_Missense_Mutation_p.R479C|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R479C			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	479					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTTTGGGACCGTACTGGAGA	0.373																																						ENST00000262462.4											0			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1435-1437)Cgt>Tgt	solute carrier family 27 (fatty acid transporter), member 6						116	107	110					5																	128363005		2203	4300	6503	SO:0001583	missense	28965			long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128363005C>T	AF064254	AF064254	CCDS4145.1	CCDS4145.1	5q23.3	2013-05-22			2013-05-22			ENSG00000113396	ENSG00000113396	ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	"Acyl-CoA synthetase family", "Solute carriers"	11000	11000	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196	604196						12556534, 10479480	12556534, 10479480	Standard	Standard	XM_005271967	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	uc003kuy.3	Q9Y2P4	Q9Y2P4	OTTHUMG00000128991	OTTHUMG00000128991	ENST00000262462.4:c.1435C>T	5.37:g.128363005C>T	ENSP00000262462:p.Arg479Cys		SLC27A6_ENST00000395266.1_Missense_Mutation_p.R479C|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R479C	p.R479C			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	7	2445	+		all_cancers(142;0.0483)|Prostate(80;0.055)	479		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1435C>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097919	0.56075	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	D;D;D	0.83075	-1.68;-1.68;-1.68	4.31	3.44	0.39384	4.31	3.44	0.39384	AMP-dependent synthetase/ligase (1);	0.101662	0.64402	D	0.000006	D	0.93314	0.7869	H	0.98466	4.24	0.58432	D	0.999996	D	0.76494	0.999	D	0.74023	0.982	D	0.92912	0.6348	9	.	.	.	1.3458	7.588	0.28004	0.3234:0.5433:0.1334:0.0	.	479	Q9Y2P4	S27A6_HUMAN	C	479	ENSP00000262462:R479C;ENSP00000378684:R479C;ENSP00000421024:R479C	.	R	+	1	0	0	SLC27A6	128390904	128390904	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.096000	0.50243	1.393000	0.46605	0.460000	0.39030	CGT		0.373	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1		5.344801	-23	-23	69	69	NM_014031		5	11.576791	11.576791	38	0.116279	0	0	0	1	0	5	38	0.116279	T	128363005	C	T	128363005	3	4	80	1	0	0	0	0	1	0	0	0	14530	652	23	1	1461	1	SLC27A6	5	128363005	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	32143471	128363005	52552255	144	1659											
SHROOM1	134549	broad.mit.edu	37	5	132158676	132158676	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:132158676C>T	ENST00000378679.3	-	10	3175	c.2371G>A	c.(2371-2373)Gcc>Acc	p.A791T	SHROOM1_ENST00000378676.1_Missense_Mutation_p.A722T|SHROOM1_ENST00000319854.3_Missense_Mutation_p.A786T|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	791	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCAGCAGGGCGCAATAGACG	0.701																																						ENST00000378679.3											0			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(2371-2373)Gcc>Acc	shroom family member 1						35	32	33					5																	132158676		2199	4298	6497	SO:0001583	missense	134549			actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158676C>T	AF314142	AF314142	CCDS4161.1, CCDS54902.1	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			2007-05-03			ENSG00000164403	ENSG00000164403	ENSG00000164403	ENSG00000164403				24084	24084	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611179	611179						11853319, 16615870	11853319, 16615870	Standard	Standard	NM_133456	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	uc003kxy.2	Q2M3G4	Q2M3G4	OTTHUMG00000059835	OTTHUMG00000059835	ENST00000378679.3:c.2371G>A	5.37:g.132158676C>T	ENSP00000367950:p.Ala791Thr		SHROOM1_ENST00000378676.1_Missense_Mutation_p.A722T|SHROOM1_ENST00000319854.3_Missense_Mutation_p.A786T	p.A791T	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	3175	-			791	ASD2.	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.2371G>A	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	8.557	0.876877	0.17395	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.29397	1.57;1.57;1.57	4.92	-0.199	0.13220	4.92	-0.199	0.13220	Apx/shroom, ASD2 (2);	0.979382	0.08366	N	0.956918	T	0.13970	0.0338	N	0.16478	0.41	0.09310	N	1	B;B	0.29115	0.196;0.233	B;B	0.20384	0.017;0.029	T	0.25745	-1.0123	10	0.22706	T	0.39	-3.01	2.6354	0.04956	0.3393:0.4027:0.1163:0.1417	.	786;791	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	T	791;786;722	ENSP00000367950:A791T;ENSP00000324245:A786T;ENSP00000367947:A722T	ENSP00000324245:A786T	A	-	1	0	0	SHROOM1	132186575	132186575	0.000000	0.05858	0.031000	0.17742	0.506000	0.33950	0.061000	0.14366	-0.168000	0.10853	0.655000	0.94253	GCC		0.701	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1		23.395652	-1	-1	30	30	NM_133456		8	23.570642	23.570642	12	0.4	0	0	0	1	0	8	12	0.4	T	132158676	C	T	132158676	3	4	80	1	0	0	0	0	1	0	0	0	14293	768	27	1	191	1	SHROOM1	5	132158676	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3795671	132158676	48756584	145	1660											
PCDHA6	56142	broad.mit.edu	37	5	140209242	140209242	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:140209242G>A	ENST00000529310.1	+	1	1680	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Silent_p.P522P|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGCTGGACCACG	0.682																																						ENST00000529310.1											0			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1564-1566)ccG>ccA							68	79	75					5																	140209242		2202	4291	6493	SO:0001819	synonymous_variant	0						g.chr5:140209242G>A	AF152484	AF152484	CCDS47281.1, CCDS47282.1	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			2010-11-26			ENSG00000081842	ENSG00000081842	ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8672	8672	other	complex locus constituent	other	complex locus constituent	"KIAA0345-like 8"	"KIAA0345-like 8"	606312	606312		CNRS2		CNRS2		10380929, 10662547	10380929, 10662547	Standard	Standard	NM_018909	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6			Q9UN73	Q9UN73	OTTHUMG00000163353	OTTHUMG00000163353	ENST00000529310.1:c.1566G>A	5.37:g.140209242G>A			PCDHA6_ENST00000527624.1_Silent_p.P522P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.P522P	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1680	+					O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1566G>A	CCDS47281.1																																																																																									0.682	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		-25.217087	-40	-40	164	164	NM_018909		4	7.306372	7.306372	130	0.029851	0	0	0	1	0	4	130	0.029851	A	140209242	G	A	140209242	2	1	80	1	0	0	0	0	0	0	0	1	11528	1074	38	1		1	PCDHA6	5	140209242	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8050566	140209242	40706018	146	1661											
PCDHB7	56129	broad.mit.edu	37	5	140554409	140554409	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:140554409G>A	ENST00000231137.3	+	1	2167	c.1993G>A	c.(1993-1995)Ggc>Agc	p.G665S	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	665	Cadherin 6. {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(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGTGGACGGCTTCTCCCA	0.701																																						ENST00000231137.3											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1993-1995)Ggc>Agc							41	65	57					5																	140554409		2178	4274	6452	SO:0001583	missense	0			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554409G>A	AF152500	AF152500	CCDS4249.1	CCDS4249.1	5q31	2010-01-26			2010-01-26			ENSG00000113212	ENSG00000113212	ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8692	8692	other	protocadherin	other	protocadherin			606333	606333						10380929	10380929	Standard	Standard	NM_018940	NM_018940		Approved	PCDH-BETA7	uc003lit.3	uc003lit.3	Q9Y5E2	Q9Y5E2	OTTHUMG00000129608	OTTHUMG00000129608	ENST00000231137.3:c.1993G>A	5.37:g.140554409G>A	ENSP00000231137:p.Gly665Ser			p.G665S	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2167	+			665	Cadherin 6.	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1993G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043627	0.55003	.	.	ENSG00000113212	ENST00000231137	T	0.47869	0.83	3.98	3.98	0.46160	3.98	3.98	0.46160	Cadherin (2);	.	.	.	.	T	0.49270	0.1547	N	0.17474	0.49	0.31529	N	0.661409	D	0.89917	1.0	D	0.97110	1.0	T	0.46884	-0.9159	9	0.20519	T	0.43	.	12.0813	0.53671	0.0:0.1742:0.8258:0.0	.	665	Q9Y5E2	PCDB7_HUMAN	S	665	ENSP00000231137:G665S	ENSP00000231137:G665S	G	+	1	0	0	PCDHB7	140534593	140534593	0.008000	0.16893	1.000000	0.80357	0.944000	0.59088	1.938000	0.40203	1.922000	0.55676	0.449000	0.29647	GGC		0.701	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		82.966112	27	27	218	218	NM_018940		33	92.606359	92.606359	111	0.229167	0	0	0	1	0	33	111	0.229167	A	140554409	G	A	140554409	3	1	80	1	0	0	0	0	1	0	0	0	11547	1116	39	1	1995	1	PCDHB7	5	140554409	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	345167	140554409	40360851	147	1662											
PCDHGA6	56109	broad.mit.edu	37	5	140754748	140754748	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:140754748C>T	ENST00000517434.1	+	1	1098	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	366	Cadherin 4. {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)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAGTAATCGCCCTTTTTC	0.433																																						ENST00000517434.1											0			breast(1)|large_intestine(1)	2						c.(1096-1098)atC>atT							93	95	95					5																	140754748		1916	4136	6052	SO:0001819	synonymous_variant	0						g.chr5:140754748C>T	AF152513	AF152513	CCDS54926.1, CCDS75335.1	CCDS54926.1, CCDS75335.1	5q31	2010-01-26			2010-01-26				ENSG00000253731		ENSG00000253731		"Cadherins / Protocadherins : Clustered"	"Cadherins / Protocadherins : Clustered"	8704	8704	other	protocadherin	other	protocadherin			606293	606293						10380929	10380929	Standard	Standard	NM_018919	NM_018919		Approved	PCDH-GAMMA-A6			Q9Y5G7	Q9Y5G7			ENST00000517434.1:c.1098C>T	5.37:g.140754748C>T			PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.I366I	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1098	+					A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1098C>T	CCDS54926.1																																																																																									0.433	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1		-2.043902	-18	-18	63	63	NM_018919		4	8.822103	8.822103	53	0.070175	0	0	0	1	0	4	53	0.070175	T	140754748	C	T	140754748	2	4	80	1	0	0	0	0	0	0	0	1	11558	874	31	1		1	PCDHGA6	5	140754748	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	200339	140754748	40160512	148	1663											
RBM22	55696	broad.mit.edu	37	5	150075212	150075212	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:150075212C>T	ENST00000199814.4	-	7	723	c.602G>A	c.(601-603)cGt>cAt	p.R201H	RBM22_ENST00000447771.2_Missense_Mutation_p.R152H|RBM22_ENST00000540000.1_Missense_Mutation_p.R152H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	201					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)	p.R201H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGTAATAACGGTCTTTAAT	0.433																																						ENST00000199814.4											1	Substitution - Missense(1)	large_intestine(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(601-603)cGt>cAt	RNA binding motif protein 22						95	90	91					5																	150075212		2203	4300	6503	SO:0001583	missense	55696			protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150075212C>T	AL136933	AL136933	CCDS34278.1	CCDS34278.1	5q33.1	2013-02-12			2013-02-12			ENSG00000086589	ENSG00000086589	ENSG00000086589	ENSG00000086589		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	25503	25503	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 47"	"functional spliceosome-associated protein 47"	612430	612430						20013661, 19133299	20013661, 19133299	Standard	Standard	NM_018047	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	uc031slu.1	Q9NW64	Q9NW64	OTTHUMG00000163589	OTTHUMG00000163589	ENST00000199814.4:c.602G>A	5.37:g.150075212C>T	ENSP00000199814:p.Arg201His		RBM22_ENST00000540000.1_Missense_Mutation_p.R152H|RBM22_ENST00000447771.2_Missense_Mutation_p.R152H	p.R201H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	723	-		Medulloblastoma(196;0.167)	201		A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.602G>A	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460270	0.63401	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	T;T;T	0.06528	3.29;3.29;3.29	5.61	4.75	0.60458	5.61	4.75	0.60458	.	0.115109	0.64402	D	0.000010	T	0.31544	0.0800	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32693	-0.9897	10	0.72032	D	0.01	-1.7723	14.5396	0.67984	0.0:0.9294:0.0:0.0706	.	201	Q9NW64	RBM22_HUMAN	H	201;152;152	ENSP00000199814:R201H;ENSP00000441594:R152H;ENSP00000412118:R152H	ENSP00000199814:R201H	R	-	2	0	0	RBM22	150055405	150055405	1.000000	0.71417	0.990000	0.47175	0.013000	0.08279	7.729000	0.84864	1.374000	0.46228	-0.140000	0.14226	CGT		0.433	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2		116.396595	-26	-26	143	143	NM_018047		39	117.824137	117.824137	65	0.375	0	0	0	1	0	39	65	0.375	T	150075212	C	T	150075212	3	4	80	1	0	0	0	0	1	0	0	0	13122	536	19	1	680	1	RBM22	5	150075212	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9320464	150075212	30840048	149	1664											
FAT2	2196	broad.mit.edu	37	5	150891882	150891882	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:150891882C>T	ENST00000261800.5	-	20	11761	c.11749G>A	c.(11749-11751)Gtg>Atg	p.V3917M	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3917	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			TCGTTGACCACGACAGCATCC	0.592																																						ENST00000261800.5											0			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						c.(11749-11751)Gtg>Atg	FAT atypical cadherin 2						78	75	76					5																	150891882		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.chr5:150891882C>T	AF231022	AF231022	CCDS4317.1	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	"Cadherins / Cadherin-related"	3596	3596	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cadherin-related family member 9"	"cadherin-related family member 9"	604269	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"		"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	9693030	Standard	Standard	NM_001447	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	uc003lue.4	Q9NYQ8	Q9NYQ8	OTTHUMG00000130126	OTTHUMG00000130126	ENST00000261800.5:c.11749G>A	5.37:g.150891882C>T	ENSP00000261800:p.Val3917Met		CTC-251D13.1_ENST00000606930.1_RNA	p.V3917M	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	11761	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3917	Laminin G-like.	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11749G>A	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.155|3.155	-0.173462|-0.173462	0.06421|0.06421	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.78707	.|-1.2	5.16|5.16	-5.74|-5.74	0.02391|0.02391	5.16|5.16	-5.74|-5.74	0.02391|0.02391	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.|1.420810	.|0.04654	.|N	.|0.407616	T|T	0.62502|0.62502	0.2433|0.2433	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19445	.|0.036;0.019	.|B;B	.|0.19148	.|0.024;0.002	T|T	0.48658|0.48658	-0.9016|-0.9016	5|10	.|0.33141	.|T	.|0.24	.|.	8.2577|8.2577	0.31766|0.31766	0.1709:0.3172:0.0:0.5119|0.1709:0.3172:0.0:0.5119	.|.	.|3917;1022	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	H|M	689|3917	.|ENSP00000261800:V3917M	.|ENSP00000261800:V3917M	R|V	-|-	2|1	0|0	0|0	FAT2|FAT2	150872075|150872075	150872075|150872075	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.311000|0.311000	0.27955|0.27955	-1.725000|-1.725000	0.01863|0.01863	-1.472000|-1.472000	0.01883|0.01883	-2.636000|-2.636000	0.00152|0.00152	CGT|GTG		0.592	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		4.775173	-7	-7	58	58	NM_001447		4	9.662167	9.662167	30	0.117647	0	0	0	1	0	4	30	0.117647	T	150891882	C	T	150891882	3	4	80	1	0	0	0	0	1	0	0	0	5690	536	19	1	1316	1	FAT2	5	150891882	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	816670	150891882	30023378	150	1665											
GRIA1	2890	broad.mit.edu	37	5	153078528	153078528	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:153078528C>T	ENST00000285900.5	+	10	1690	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	GRIA1_ENST00000521843.2_Silent_p.H380H|GRIA1_ENST00000448073.4_Silent_p.H459H|GRIA1_ENST00000340592.5_Silent_p.H449H|GRIA1_ENST00000518783.1_Silent_p.H459H|GRIA1_ENST00000518142.1_Silent_p.H369H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	449					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTGCCAAGCACGTGGGCTACT	0.537																																						ENST00000285900.5											0			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1345-1347)caC>caT	glutamate receptor, ionotropic, AMPA 1						110	98	102					5																	153078528		2203	4300	6503	SO:0001819	synonymous_variant	0			synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153078528C>T			CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			2012-08-29			ENSG00000155511	ENSG00000155511	ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	4571	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138248	138248		GLUR1		GLUR1		1652753, 1319477	1652753, 1319477	Standard	Standard	NM_000827	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	uc011dcy.2	P42261	P42261	OTTHUMG00000130148	OTTHUMG00000130148	ENST00000285900.5:c.1347C>T	5.37:g.153078528C>T			GRIA1_ENST00000340592.5_Silent_p.H449H|GRIA1_ENST00000448073.4_Silent_p.H459H|GRIA1_ENST00000518783.1_Silent_p.H459H|GRIA1_ENST00000521843.2_Silent_p.H380H|GRIA1_ENST00000518142.1_Silent_p.H369H	p.H449H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1690	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	449		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.1347C>T	CCDS4322.1																																																																																									0.537	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		-4.918834	-16	-16	43	43			3	6.853271	6.853271	53	0.053571	0	0	0	1	0	3	53	0.053571	T	153078528	C	T	153078528	2	4	80	1	0	0	0	0	0	0	0	1	6767	535	19	1		1	GRIA1	5	153078528	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2186646	153078528	27836732	151	1666											
LARP1	23367	broad.mit.edu	37	5	154173236	154173236	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:154173236G>A	ENST00000336314.4	+	5	614	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	274					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCCCCACTCGCCCACCGGAG	0.547																																						ENST00000336314.4											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(589-591)cGc>cAc	La ribonucleoprotein domain family, member 1						123	135	131					5																	154173236		2203	4300	6503	SO:0001583	missense	23367					protein binding|RNA binding	g.chr5:154173236G>A	AB018274	AB018274	CCDS4328.1	CCDS4328.1	5q33.2	2014-02-12			2014-02-12			ENSG00000155506	ENSG00000155506	ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	"La ribonucleoprotein domain containing"	29531	29531	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612059	612059						9872452, 10878606	9872452, 10878606	Standard	Standard	NM_015315	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	uc003lvo.4	Q6PKG0	Q6PKG0	OTTHUMG00000130191	OTTHUMG00000130191	ENST00000336314.4:c.590G>A	5.37:g.154173236G>A	ENSP00000336721:p.Arg197His			p.R197H	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	614	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	274		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.590G>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538203	0.85917	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000519931;ENST00000524248;ENST00000523163	T;T;T;T	0.48836	1.75;1.31;1.36;0.8	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	N	0.12182	0.205	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.78314	0.959;0.991	T	0.57843	-0.7741	10	0.44086	T	0.13	-13.7021	20.2985	0.98592	0.0:0.0:1.0:0.0	.	274;197	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	H	197;274;69;69;49	ENSP00000336721:R197H;ENSP00000428589:R274H;ENSP00000429904:R69H;ENSP00000430438:R49H	ENSP00000336721:R197H	R	+	2	0	0	LARP1	154153429	154153429	1.000000	0.71417	0.994000	0.49952	0.591000	0.36615	5.496000	0.66918	2.793000	0.96121	0.655000	0.94253	CGC		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1		115.087380	-10	-10	136	136	NM_033551		42	115.090602	115.090602	43	0.494118	0	0	0	1	0	42	43	0.494118	A	154173236	G	A	154173236	3	1	80	1	0	0	0	0	1	0	0	0	8628	1087	38	1	608	1	LARP1	5	154173236	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1094708	154173236	26742024	152	1667											
KIF4B	285643	broad.mit.edu	37	5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A	rs199820075		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:154395374G>A	ENST00000435029.4	+	1	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R652H(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408													G|||	1	0.000199681	0	0	5008	,	,		22303	0.001		0	False		,,,				2504	0					ENST00000435029.4											2	Substitution - Missense(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1954-1956)cGt>cAt	kinesin family member 4B						157	156	156					5																	154395374		2203	4300	6503	SO:0001583	missense	285643			axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395374G>A	AF241316	AF241316	CCDS47324.1	CCDS47324.1	5q33.2	2010-06-22			2010-06-22			ENSG00000226650	ENSG00000226650	ENSG00000226650	ENSG00000226650		"Kinesins"	"Kinesins"	6322	6322	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609184	609184								Standard	Standard	NM_001099293	NM_001099293		Approved		uc010jih.1	uc010jih.1	Q2VIQ3	Q2VIQ3	OTTHUMG00000164143	OTTHUMG00000164143	ENST00000435029.4:c.1955G>A	5.37:g.154395374G>A	ENSP00000387875:p.Arg652His			p.R652H	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2115	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	652			Missense_Mutation	SNP	ENST00000435029.4	37	c.1955G>A	CCDS47324.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	12.12	1.842099	0.32513	.	.	ENSG00000226650	ENST00000435029	T	0.18174	2.23	2.54	0.587	0.17439	2.54	0.587	0.17439	.	.	.	.	.	T	0.12178	0.0296	L	0.47716	1.5	0.48236	D	0.999614	B	0.31256	0.316	B	0.24269	0.052	T	0.09164	-1.0687	9	0.59425	D	0.04	.	5.0708	0.14606	0.3293:0.0:0.6707:0.0	.	652	Q2VIQ3	KIF4B_HUMAN	H	652	ENSP00000387875:R652H	ENSP00000387875:R652H	R	+	2	0	0	KIF4B	154375567	154375567	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	4.427000	0.59888	-0.177000	0.10690	0.563000	0.77884	CGT		0.408	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		-2.954351	-25	-25	117	117			7	15.595008	15.595008	91	0.071429	0	0	0	1	0	7	91	0.071429	A	154395374	G	A	154395374	3	1	80	1	0	0	0	0	1	0	0	0	8304	1145	40	1	1957	1	KIF4B	5	154395374	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	222138	154395374	26519886	153	1668											
FGFR4	2264	broad.mit.edu	37	5	176520431	176520431	+	Missense_Mutation	SNP	G	G	A	rs55879131		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:176520431G>A	ENST00000292408.4	+	10	1521	c.1276G>A	c.(1276-1278)Ggc>Agc	p.G426S	FGFR4_ENST00000393648.2_Silent_p.P374P|FGFR4_ENST00000502906.1_Missense_Mutation_p.G426S|FGFR4_ENST00000292410.3_Missense_Mutation_p.G386S|FGFR4_ENST00000393637.1_Missense_Mutation_p.G386S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	426			G -> S (in dbSNP:rs55879131). {ECO:0000269|PubMed:17344846}.		alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	AGGCTCTTCCGGCAAGTCAAG	0.617										TSP Lung(9;0.080)			G|||	1	0.000199681	0	0	5008	,	,		16876	0		0.001	False		,,,				2504	0					ENST00000292408.4											0			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1276-1278)Ggc>Agc	fibroblast growth factor receptor 4	G	SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	79	81	80		1276,1156,1276	3.9	0.9	5	dbSNP_129	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FGFR4	NM_002011.3,NM_022963.2,NM_213647.1	56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	426/803,386/763,426/803	176520431	1,13005	2203	4300	6503	SO:0001583	missense	2264			insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520431G>A	AF202063	AF202063	CCDS4410.1, CCDS4411.1	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			2013-09-19			ENSG00000160867	ENSG00000160867	ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	3691	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			134935	134935								Standard	Standard	XM_005265837	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	uc003mfm.3	P22455	P22455	OTTHUMG00000151523	OTTHUMG00000151523	ENST00000292408.4:c.1276G>A	5.37:g.176520431G>A	ENSP00000292408:p.Gly426Ser		FGFR4_ENST00000393637.1_Missense_Mutation_p.G386S|FGFR4_ENST00000502906.1_Missense_Mutation_p.G426S|FGFR4_ENST00000292410.3_Missense_Mutation_p.G386S|FGFR4_ENST00000393648.2_Silent_p.P374P	p.G426S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1521	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	426		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1276G>A	CCDS4410.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	10.99|10.99	1.506986|1.506986	0.27036|0.27036	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160867|ENSG00000160867	ENST00000292408;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207|ENST00000511076	D;D;D;D|.	0.82984|.	-1.67;-1.67;-1.67;-1.67|.	4.76|4.76	3.89|3.89	0.44902|0.44902	4.76|4.76	3.89|3.89	0.44902|0.44902	.|.	0.213165|.	0.48286|.	N|.	0.000189|.	T|T	0.63640|0.63640	0.2528|0.2528	L|L	0.60455|0.60455	1.87|1.87	0.40652|0.40652	D|D	0.982048|0.982048	P;B|.	0.39964|.	0.697;0.083|.	B;B|.	0.29524|.	0.103;0.015|.	T|T	0.63791|0.63791	-0.6557|-0.6557	10|5	0.07813|.	T|.	0.8|.	.|.	13.0003|13.0003	0.58672|0.58672	0.0792:0.0:0.9208:0.0|0.0792:0.0:0.9208:0.0	rs55879131|rs55879131	386;426|.	P22455-2;P22455|.	.;FGFR4_HUMAN|.	S|Q	426;426;386;386;654|57	ENSP00000292408:G426S;ENSP00000424960:G426S;ENSP00000292410:G386S;ENSP00000377254:G386S|.	ENSP00000292408:G426S|.	G|R	+|+	1|2	0|0	0|0	FGFR4|FGFR4	176453037|176453037	176453037|176453037	1.000000|1.000000	0.71417|0.71417	0.864000|0.864000	0.33941|0.33941	0.633000|0.633000	0.38033|0.38033	3.836000|3.836000	0.55813|0.55813	1.256000|1.256000	0.44068|0.44068	-0.226000|-0.226000	0.12346|0.12346	GGC|CGG		0.617	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1		38.795248	-18	-18	94	94			15	42.560067	42.560067	47	0.241935	0	0	0	1	0	15	47	0.241935	A	176520431	G	A	176520431	3	1	80	1	0	0	0	0	1	0	0	0	5868	1116	39	1	1380	1	FGFR4	5	176520431	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22125057	176520431	4394829	154	1669											
NSD1	64324	broad.mit.edu	37	5	176637574	176637574	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:176637574C>T	ENST00000439151.2	+	5	2219	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M	NSD1_ENST00000354179.4_Missense_Mutation_p.T456M|NSD1_ENST00000361032.4_Missense_Mutation_p.T622M|NSD1_ENST00000347982.4_Missense_Mutation_p.T456M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	725					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAACCGAGACGTCTCAGGTT	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(2173-2175)aCg>aTg	nuclear receptor binding SET domain protein 1						73	74	74					5																	176637574		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637574C>T	AK026066	AK026066	CCDS4412.1, CCDS4413.1	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671	ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	14234	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606681	606681	"Sotos syndrome"	STO	"Sotos syndrome"	STO		9628876, 11896389	9628876, 11896389	Standard	Standard	NM_022455	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	uc003mfr.4	Q96L73	Q96L73	OTTHUMG00000130846	OTTHUMG00000130846	ENST00000439151.2:c.2174C>T	5.37:g.176637574C>T	ENSP00000395929:p.Thr725Met		NSD1_ENST00000354179.4_Missense_Mutation_p.T456M|NSD1_ENST00000347982.4_Missense_Mutation_p.T456M|NSD1_ENST00000361032.4_Missense_Mutation_p.T622M	p.T725M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2219	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	725		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.2174C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.761860	0.00651	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93019	-3.04;-3.05;-3.04;-3.15	5.1	-1.69	0.08186	5.1	-1.69	0.08186	.	0.639611	0.14885	N	0.292703	T	0.80444	0.4624	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19445	0.013;0.036;0.007	B;B;B	0.14578	0.01;0.011;0.004	T	0.66614	-0.5879	9	.	.	.	.	0.8064	0.01084	0.2065:0.2947:0.1203:0.3786	.	456;622;725	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	M	456;456;725;456;622	ENSP00000346111:T456M;ENSP00000395929:T725M;ENSP00000343209:T456M;ENSP00000354310:T622M	.	T	+	2	0	0	NSD1	176570180	176570180	0.580000	0.26733	0.045000	0.18777	0.008000	0.06430	0.891000	0.28309	-0.134000	0.11516	-0.794000	0.03295	ACG		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		66.475643	-10	-10	57	57	NM_172349		21	66.480953	66.480953	20	0.512195	0	0	0	1	0	21	20	0.512195	T	176637574	C	T	176637574	3	4	80	1	0	0	0	0	1	0	0	0	10669	536	19	1	2188	1	NSD1	5	176637574	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	117143	176637574	4277686	155	1670											
FAM193B	54540	broad.mit.edu	37	5	176958324	176958324	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:176958324C>T	ENST00000329540.5	-	8	2941	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	FAM193B_ENST00000443375.2_Missense_Mutation_p.A379T|FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000508298.1_Intron			Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	492						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						GCGGCCCTGGCGCTGTTGGGG	0.657																																						ENST00000329540.5											0			kidney(1)|large_intestine(3)	4						c.(112-114)Gcc>Acc	family with sequence similarity 193, member B						23	26	25					5																	176958324		1888	4104	5992	SO:0001583	missense	54540						g.chr5:176958324C>T			CCDS54954.1	CCDS54954.1	5q35	2010-02-17			2010-02-17			ENSG00000146067	ENSG00000146067	ENSG00000146067	ENSG00000146067				25524	25524	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615813	615813						11572484	11572484	Standard	Standard	NR_024019	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	uc003mhu.3	Q96PV7	Q96PV7	OTTHUMG00000163396	OTTHUMG00000163396	ENST00000329540.5:c.112G>A	5.37:g.176958324C>T	ENSP00000332014:p.Ala38Thr		FAM193B_ENST00000443375.2_Missense_Mutation_p.A379T|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Intron	p.A38T			Q6IPW0	Q6IPW0_HUMAN			8	2941	-			420		E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000329540.5	37	c.112G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627044|4.627044	0.87560|0.87560	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000443375;ENST00000329540|ENST00000524677	T;T|.	0.52526|.	0.73;0.66|.	5.07|5.07	5.07|5.07	0.68467|0.68467	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|.	.|.	.|.	.|.	T|T	0.63581|0.63581	0.2523|0.2523	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999993|0.999993	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.71414|.	0.973;0.936|.	T|T	0.62163|0.62163	-0.6912|-0.6912	8|4	0.18276|.	T|.	0.48|.	-5.0806|-5.0806	11.8957|11.8957	0.52656|0.52656	0.0:0.9198:0.0:0.0802|0.0:0.9198:0.0:0.0802	.|.	38;379|.	E7ER81;E9PEZ8|.	.;.|.	T|H	379;38|97	ENSP00000410098:A379T;ENSP00000332014:A38T|.	ENSP00000332014:A38T|.	A|R	-|-	1|2	0|0	0|0	FAM193B|FAM193B	176890930|176890930	176890930|176890930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.969000|4.969000	0.63735|0.63735	2.347000|2.347000	0.79759|0.79759	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.657	FAM193B-201	KNOWN	basic	protein_coding	protein_coding			23.098084	-2	-2	13	13	NM_019057		8	23.110904	23.110904	9	0.470588	0	0	0	1	0	8	9	0.470588	T	176958324	C	T	176958324	3	4	80	1	0	0	0	0	1	0	0	0	5525	768	27	1	1250	1	FAM193B	5	176958324	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	320750	176958324	3956936	156	1671											
ELOVL2	54898	broad.mit.edu	37	6	10990061	10990061	+	Missense_Mutation	SNP	C	C	T	rs202019761		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:10990061C>T	ENST00000354666.3	-	7	723	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	214					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ATGGTGAGCACGAACTGCACC	0.542																																						ENST00000354666.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(640-642)Gtg>Atg	ELOVL fatty acid elongase 2						90	77	82					6																	10990061		2203	4300	6503	SO:0001583	missense	54898			fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10990061C>T	AK000341	AK000341	CCDS4518.1	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977	ENSG00000197977	ENSG00000197977				14416	14416	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611814	611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"		"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	12371743, 16564093	Standard	Standard	NM_017770	NM_017770		Approved	Ssc2	uc003mzp.4	uc003mzp.4	Q9NXB9	Q9NXB9	OTTHUMG00000014252	OTTHUMG00000014252	ENST00000354666.3:c.640G>A	6.37:g.10990061C>T	ENSP00000346693:p.Val214Met			p.V214M	NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		7	723	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	214		Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.640G>A	CCDS4518.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.46	3.130076	0.56721	.	.	ENSG00000197977	ENST00000354666	T	0.26660	1.72	5.81	-0.939	0.10408	5.81	-0.939	0.10408	.	0.741921	0.12335	N	0.478022	T	0.32224	0.0822	M	0.76727	2.345	0.22719	N	0.998812	P	0.46706	0.883	P	0.51016	0.656	T	0.57106	-0.7868	10	0.66056	D	0.02	-0.011	24.2674	0.99989	0.0:0.261:0.739:0.0	.	214	Q9NXB9	ELOV2_HUMAN	M	214	ENSP00000346693:V214M	ENSP00000346693:V214M	V	-	1	0	0	ELOVL2	11098047	11098047	0.000000	0.05858	0.418000	0.26571	0.910000	0.53928	-0.857000	0.04286	-0.168000	0.10853	0.655000	0.94253	GTG		0.542	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1		12.732002	2	2	53	53			6	15.449361	15.449361	25	0.193548	0	0	0	1	0	6	25	0.193548	T	10990061	C	T	10990061	3	4	80	1	0	0	0	0	1	0	0	0	5074	536	19	1	258	1	ELOVL2	6	10990061	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		10990061	160125006	157	1672											
EDN1	1906	broad.mit.edu	37	6	12292598	12292598	+	Missense_Mutation	SNP	C	C	T	rs202087445		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:12292598C>T	ENST00000379375.5	+	2	356	c.89C>T	c.(88-90)gCg>gTg	p.A30V		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	30					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				GAGCTCAGCGCGGTGGGTGAG	0.612																																						ENST00000379375.5											0			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(88-90)gCg>gTg	endothelin 1						76	83	81					6																	12292598		2202	4300	6502	SO:0001583	missense	1906			artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12292598C>T	S56805	S56805	CCDS4522.1	CCDS4522.1	6p24.1	2014-03-19			2014-03-19			ENSG00000078401	ENSG00000078401	ENSG00000078401	ENSG00000078401		"Endogenous ligands"	"Endogenous ligands"	3176	3176	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			131240	131240								Standard	Standard	NM_001168319	NM_001168319		Approved	ET1	uc003nae.4	uc003nae.4	P05305	P05305	OTTHUMG00000014266	OTTHUMG00000014266	ENST00000379375.5:c.89C>T	6.37:g.12292598C>T	ENSP00000368683:p.Ala30Val			p.A30V	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			2	356	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	30		Q96DA1	Missense_Mutation	SNP	ENST00000379375.5	37	c.89C>T	CCDS4522.1	.	.	.	.	.	.	.	.	.	.	c	16.04	3.009757	0.54361	.	.	ENSG00000078401	ENST00000379375	D	0.84589	-1.87	5.99	3.31	0.37934	5.99	3.31	0.37934	.	0.739422	0.13381	N	0.392146	T	0.51517	0.1679	N	0.08118	0	0.09310	N	1	B;B	0.18863	0.031;0.031	B;B	0.16289	0.015;0.015	T	0.44787	-0.9305	10	0.35671	T	0.21	-16.9053	9.9686	0.41741	0.0:0.793:0.0:0.207	.	30;30	Q6FH53;P05305	.;EDN1_HUMAN	V	30	ENSP00000368683:A30V	ENSP00000368683:A30V	A	+	2	0	0	EDN1	12400584	12400584	0.026000	0.19158	0.005000	0.12908	0.069000	0.16628	2.895000	0.48648	0.450000	0.26774	-0.119000	0.15052	GCG		0.612	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1		-14.314068	-17	-17	138	138	NM_001955		5	9.684012	9.684012	104	0.045872	0	0	0	1	0	5	104	0.045872	T	12292598	C	T	12292598	3	4	80	1	0	0	0	0	1	0	0	0	4916	768	27	1	95	1	EDN1	6	12292598	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1302537	12292598	158822469	158	1673											
C6orf136	221545	broad.mit.edu	37	6	30617438	30617438	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:30617438G>A	ENST00000376473.5	+	2	335	c.176G>A	c.(175-177)cGc>cAc	p.R59H	C6orf136_ENST00000493705.1_3'UTR|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000293604.6_Missense_Mutation_p.R240H|C6orf136_ENST00000528347.2_5'Flank	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	59						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTGCCCCCACGCCTTCCCACC	0.612																																						ENST00000293604.6											0			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(718-720)cGc>cAc	chromosome 6 open reading frame 136						120	127	125					6																	30617438		2080	4220	6300	SO:0001583	missense	221545						g.chr6:30617438G>A	BC016167	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			2012-02-06			ENSG00000204564	ENSG00000204564	ENSG00000204564	ENSG00000204564				21301	21301	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001109938	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	uc003nqx.4	Q5SQH8	Q5SQH8	OTTHUMG00000031221	OTTHUMG00000031221	ENST00000376473.5:c.176G>A	6.37:g.30617438G>A	ENSP00000365656:p.Arg59His		C6orf136_ENST00000493705.1_3'UTR|C6orf136_ENST00000376473.5_Missense_Mutation_p.R59H|C6orf136_ENST00000376471.4_Intron	p.R240H	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN			2	912	+			59		A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.719G>A	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842316	0.16963	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000446773	.	.	.	5.51	-5.96	0.02234	5.51	-5.96	0.02234	.	2.161400	0.01898	N	0.038983	T	0.05227	0.0139	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.12915	-1.0529	9	0.36615	T	0.2	0.8566	1.4301	0.02332	0.4817:0.1262:0.1846:0.2075	.	240;59	F8VX15;Q5SQH8	.;CF136_HUMAN	H	240;59;177	.	ENSP00000293604:R240H	R	+	2	0	0	C6orf136	30725417	30725417	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.939000	0.03933	-0.871000	0.04042	0.557000	0.71058	CGC		0.612	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4		-9.060148	-33	-33	120	120	NM_145029		4	7.289579	7.289579	73	0.051948	0	0	0	1	0	4	73	0.051948	A	30617438	G	A	30617438	3	1	80	1	0	0	0	0	1	0	0	0	2331	1087	38	1	725	1	C6orf136	6	30617438	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	18324840	30617438	140497629	159	1674											
TCF19	6941	broad.mit.edu	37	6	31130268	31130268	+	Missense_Mutation	SNP	G	G	A	rs142309377	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31130268G>A	ENST00000376257.3	+	4	1566	c.812G>A	c.(811-813)cGt>cAt	p.R271H	TCF19_ENST00000376255.4_Missense_Mutation_p.R271H|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	271	Pro-rich.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CGACGTGGCCGTCCTCGGAAG	0.607													G|||	6	0.00119808	0	0	5008	,	,		19265	0.005		0	False		,,,				2504	0.001					ENST00000376257.3											0			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(811-813)cGt>cAt	transcription factor 19						84	92	89					6																	31130268		1287	2550	3837	SO:0001583	missense	6941			cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31130268G>A	U25826	U25826	CCDS43446.1	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310	ENSG00000137310	ENSG00000137310		"Zinc fingers, PHD-type"	"Zinc fingers, PHD-type"	11629	11629	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600912	600912						1868030, 8595903	1868030, 8595903	Standard	Standard	NM_001077511	NM_001077511		Approved	SC1	uc003nss.3	uc003nss.3	Q9Y242	Q9Y242	OTTHUMG00000031274	OTTHUMG00000031274	ENST00000376257.3:c.812G>A	6.37:g.31130268G>A	ENSP00000365433:p.Arg271His		TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.R271H	p.R271H	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			4	1566	+			271	Pro-rich.	A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.812G>A	CCDS43446.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	11.65	1.700994	0.30142	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	T;T	0.34667	1.35;1.35	3.21	2.22	0.28083	3.21	2.22	0.28083	Zinc finger, FYVE/PHD-type (1);	0.116892	0.64402	N	0.000017	T	0.12092	0.0294	L	0.31926	0.97	0.80722	D	1	B	0.16802	0.019	B	0.10450	0.005	T	0.06552	-1.0820	10	0.72032	D	0.01	-30.1324	7.3256	0.26553	0.156:0.0:0.844:0.0	.	271	Q9Y242	TCF19_HUMAN	H	271	ENSP00000365433:R271H;ENSP00000365431:R271H	ENSP00000365431:R271H	R	+	2	0	0	TCF19	31238247	31238247	0.721000	0.28007	0.894000	0.35097	0.580000	0.36256	1.730000	0.38125	0.564000	0.29238	0.549000	0.68633	CGT		0.607	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2		5.744766	-12	-12	70	70	NM_007109		5	12.222553	12.222553	39	0.113636	0	0	0	1	0	5	39	0.113636	A	31130268	G	A	31130268	3	1	80	1	0	0	0	0	1	0	0	0	15686	1145	40	1	822	1	TCF19	6	31130268	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	512830	31130268	139984799	160	1675											
NCR3	259197	broad.mit.edu	37	6	31557652	31557652	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31557652G>A	ENST00000340027.5	-	2	558	c.295C>T	c.(295-297)Cga>Tga	p.R99*	NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376072.3_Nonsense_Mutation_p.R99*|NCR3_ENST00000376073.4_Nonsense_Mutation_p.R99*|NCR3_ENST00000376071.4_Nonsense_Mutation_p.R74*	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	99	Ig-like.				cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						TCATGGCCTCGCACGTCCCGG	0.622																																						ENST00000376073.4											0			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						c.(295-297)Cga>Tga	natural cytotoxicity triggering receptor 3						139	128	132					6																	31557652		1511	2709	4220	SO:0001587	stop_gained	259197			cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity	g.chr6:31557652G>A	AB055881	AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475	ENSG00000204475	ENSG00000204475		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19077	19077	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611550	611550	"lymphocyte antigen 117"	LY117	"lymphocyte antigen 117"	LY117		8824804, 11782277	8824804, 11782277	Standard	Standard	NM_001145466	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	uc003nuv.2	O14931	O14931	OTTHUMG00000031123	OTTHUMG00000031123	ENST00000340027.5:c.295C>T	6.37:g.31557652G>A	ENSP00000342156:p.Arg99*		NCR3_ENST00000376072.3_Nonsense_Mutation_p.R99*|NCR3_ENST00000376071.4_Nonsense_Mutation_p.R74*|NCR3_ENST00000340027.5_Nonsense_Mutation_p.R99*|NCR3_ENST00000491161.1_5'UTR	p.R99*	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN			2	558	-			99	Ig-like.	B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Nonsense_Mutation	SNP	ENST00000340027.5	37	c.295C>T	CCDS34397.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628979	0.67015	.	.	ENSG00000204475	ENST00000340027;ENST00000376073;ENST00000376072;ENST00000376071	.	.	.	4.01	0.804	0.18697	4.01	0.804	0.18697	.	1.405150	0.04900	N	0.451210	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	8.3211	2.3291	0.04231	0.112:0.1902:0.5027:0.1951	.	.	.	.	X	99;99;99;74	.	ENSP00000342156:R99X	R	-	1	2	2	NCR3	31665631	31665631	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-0.031000	0.12287	0.403000	0.25479	0.585000	0.79938	CGA		0.622	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2		106.346677	-11	-11	99	99			34	106.374175	106.374175	37	0.478873	0	0	0	1	0	34	37	0.478873	A	31557652	G	A	31557652	4	1	80	1	0	0	0	0	0	1	0	0	10239	1095	38	1	445	1	NCR3	6	31557652	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	427384	31557652	139557415	161	1676											
BAT2	7916	broad.mit.edu	37	6	31593371	31593371	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31593371G>A	ENST00000376033.2	+	7	976	c.742G>A	c.(742-744)Gga>Aga	p.G248R	SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.G248R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	248	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G248fs*2(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCCCTACCGCGGAATGATGCC	0.557																																						ENST00000376033.2											1	Deletion - Frameshift(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(742-744)Gga>Aga	proline-rich coiled-coil 2A						91	88	89					6																	31593371		2203	4300	6503	SO:0001583	missense	7916				cytoplasm|nucleus	protein binding	g.chr6:31593371G>A	M31293	M31293	CCDS4708.1	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469	ENSG00000204469	ENSG00000204469				13918	13918	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142580	142580	"HLA-B associated transcript 2"	BAT2	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	2156268, 8499947	Standard	Standard	NM_080686	NM_080686		Approved	G2, D6S51E	uc003nvc.4	uc003nvc.4	P48634	P48634	OTTHUMG00000031168	OTTHUMG00000031168	ENST00000376033.2:c.742G>A	6.37:g.31593371G>A	ENSP00000365201:p.Gly248Arg		PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.G248R	p.G248R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			7	976	+			248	4 X 57 AA type A repeats.	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.742G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587932	0.46110	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01871	4.59;4.59	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.000000	0.50627	D	0.000108	T	0.06050	0.0157	L	0.50333	1.59	0.58432	D	0.999997	D	0.89917	1.0	D	0.77004	0.989	T	0.29731	-1.0002	10	0.87932	D	0	-9.9248	17.3477	0.87314	0.0:0.0:1.0:0.0	.	248	P48634	PRC2A_HUMAN	R	248	ENSP00000365175:G248R;ENSP00000365201:G248R	ENSP00000365175:G248R	G	+	1	0	0	PRRC2A	31701350	31701350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.223000	0.89779	2.628000	0.89032	0.655000	0.94253	GGA		0.557	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		52.403261	-3	-3	53	53	NM_080686		16	52.470917	52.470917	13	0.551724	0	0	0	1	0	16	13	0.551724	A	31593371	G	A	31593371	3	1	80	1	0	0	0	0	1	0	0	0	1319	1117	39	1	764	1	BAT2	6	31593371	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	35719	31593371	139521696	162	1677											
LY6G6C	80740	broad.mit.edu	37	6	31687914	31687914	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31687914C>T	ENST00000375819.2	-	2	284	c.119G>A	c.(118-120)cGc>cAc	p.R40H	LY6G6C_ENST00000495859.1_5'UTR	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	40	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TGGCTCCAGGCGGCAGGACTG	0.587																																						ENST00000375819.2											0			NS(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(118-120)cGc>cAc	lymphocyte antigen 6 complex, locus G6C						162	116	132					6																	31687914		1510	2709	4219	SO:0001583	missense	80740				anchored to membrane|plasma membrane		g.chr6:31687914C>T			CCDS4714.1	CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421	ENSG00000204421	ENSG00000204421				13936	13936	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610435	610435	"chromosome 6 open reading frame 24"	C6orf24	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	10384126, 12079290	Standard	Standard	NM_025261	NM_025261		Approved	G6c, NG24	uc003nwh.3	uc003nwh.3	O95867	O95867	OTTHUMG00000031251	OTTHUMG00000031251	ENST00000375819.2:c.119G>A	6.37:g.31687914C>T	ENSP00000364978:p.Arg40His		LY6G6C_ENST00000495859.1_5'UTR	p.R40H	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN			2	284	-			40	UPAR/Ly6.	Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.119G>A	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300568	0.60195	.	.	ENSG00000204421	ENST00000375819	D	0.90324	-2.65	5.34	-2.74	0.05932	5.34	-2.74	0.05932	.	0.199909	0.25456	N	0.030553	T	0.65196	0.2668	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.60239	-0.7302	10	0.72032	D	0.01	-30.6231	4.8661	0.13609	0.536:0.2078:0.0:0.2562	.	40	O95867	LY66C_HUMAN	H	40	ENSP00000364978:R40H	ENSP00000364978:R40H	R	-	2	0	0	LY6G6C	31795893	31795893	0.001000	0.12720	0.747000	0.31113	0.987000	0.75469	-1.321000	0.02697	-0.412000	0.07519	0.591000	0.81541	CGC		0.587	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2		37.231391	-14	-14	77	77			14	38.948249	38.948249	33	0.297872	0	0	0	1	0	14	33	0.297872	T	31687914	C	T	31687914	3	4	80	1	0	0	0	0	1	0	0	0	9094	768	27	1	266	1	LY6G6C	6	31687914	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	94543	31687914	139427153	163	1678											
TNXB	7148	broad.mit.edu	37	6	32017060	32017060	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:32017060G>A	ENST00000375244.3	-	28	9945	c.9744C>T	c.(9742-9744)acC>acT	p.T3248T	TNXB_ENST00000375247.2_Silent_p.T3246T			P22105	TENX_HUMAN	tenascin XB	3293	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGATGCCCACGGTGGACACTG	0.637																																						ENST00000375244.3											0			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9742-9744)acC>acT	tenascin XB						29	31	30					6																	32017060		1295	2542	3837	SO:0001819	synonymous_variant	7148			actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017060G>A	X71923	X71923	CCDS4736.1	CCDS4736.1	6p21.3	2013-02-11			2013-02-11			ENSG00000168477	ENSG00000168477	ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	11976	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600985	600985		TNXB1, TNXB2		TNXB1, TNXB2		8530023	8530023	Standard	Standard	NM_019105	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	uc021yvf.2	P22105	P22105	OTTHUMG00000031088	OTTHUMG00000031088	ENST00000375244.3:c.9744C>T	6.37:g.32017060G>A			TNXB_ENST00000375247.2_Silent_p.T3246T	p.T3248T			P22105	TENX_HUMAN			28	9945	-			3293	Fibronectin type-III 24.	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9744C>T																																																																																										0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		9.791913	-15	-15	25	25	NM_019105		4	11.068474	11.068474	14	0.222222	0	0	0	1	0	4	14	0.222222	A	32017060	G	A	32017060	2	1	80	1	0	0	0	0	0	0	0	1	16343	1103	39	1		1	TNXB	6	32017060	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	329146	32017060	139098007	164	1679											
ATF6B	1388	broad.mit.edu	37	6	32084485	32084485	+	Missense_Mutation	SNP	C	C	T	rs148987710		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:32084485C>T	ENST00000375203.3	-	16	1825	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	ATF6B_ENST00000375201.4_Missense_Mutation_p.R595Q	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	598					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ACTCACCCTTCGGAAAGAGAC	0.552																																						ENST00000375201.4											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(1783-1785)cGa>cAa	activating transcription factor 6 beta	C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	81	77	79		1784,1793	5.2	1	6	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ATF6B	NM_001136153.1,NM_004381.4	43,43	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	probably-damaging,probably-damaging	595/701,598/704	32084485	4,13002	2203	4300	6503	SO:0001583	missense	1388			response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32084485C>T			CCDS47408.1, CCDS4737.1	CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	"basic leucine zipper proteins"	2349	2349	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600984	600984	"cAMP responsive element binding protein-like 1"	CREBL1	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	11256944, 14973138	Standard	Standard	NM_004381	NM_004381		Approved	G13	uc003nzn.3	uc003nzn.3	Q99941	Q99941	OTTHUMG00000031296	OTTHUMG00000031296	ENST00000375203.3:c.1793G>A	6.37:g.32084485C>T	ENSP00000364349:p.Arg598Gln		ATF6B_ENST00000375203.3_Missense_Mutation_p.R598Q	p.R595Q			Q99941	ATF6B_HUMAN			16	1829	-			598		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.1784G>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289386	0.95517	4.54E-4	2.33E-4	ENSG00000213676	ENST00000375192;ENST00000375203;ENST00000375201	T;T	0.60548	0.18;0.93	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.56097	U	0.000023	T	0.65780	0.2724	L	0.49126	1.545	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.69698	-0.5075	10	0.87932	D	0	-4.5871	16.1583	0.81680	0.0:1.0:0.0:0.0	.	595;598;598	Q99941-2;Q99941;Q6AZW6	.;ATF6B_HUMAN;.	Q	201;598;595	ENSP00000364349:R598Q;ENSP00000364347:R595Q	ENSP00000364338:R201Q	R	-	2	0	0	ATF6B	32192463	32192463	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	6.988000	0.76212	2.403000	0.81681	0.563000	0.77884	CGA		0.552	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2		47.224221	-6	-6	39	39			15	47.224221	47.224221	15	0.5	0	0	0	1	0	15	15	0.5	T	32084485	C	T	32084485	3	4	80	1	0	0	0	0	1	0	0	0	1085	884	31	1	330	1	ATF6B	6	32084485	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	67425	32084485	139030582	165	1680											
RPL10A	4736	broad.mit.edu	37	6	35437971	35437971	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:35437971C>T	ENST00000322203.6	+	5	353	c.326C>T	c.(325-327)gCg>gTg	p.A109V	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	109					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						AAGTATGATGCGTTTTTGGCC	0.498																																						ENST00000322203.6											0			breast(1)|large_intestine(2)|ovary(1)	4						c.(325-327)gCg>gTg	ribosomal protein L10a						101	91	94					6																	35437971		2203	4300	6503	SO:0001583	missense	4736			anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35437971C>T	U12404	U12404	CCDS4806.1	CCDS4806.1	6p21.31	2011-04-06			2011-04-06			ENSG00000198755	ENSG00000198755	ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	"L ribosomal proteins"	10299	10299	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615660	615660		NEDD6		NEDD6		7609734, 9647638	7609734, 9647638	Standard	Standard	NM_007104	NM_007104		Approved	Csa-19, L10A	uc003okp.1	uc003okp.1	P62906	P62906	OTTHUMG00000014566	OTTHUMG00000014566	ENST00000322203.6:c.326C>T	6.37:g.35437971C>T	ENSP00000363018:p.Ala109Val		RPL10A_ENST00000467020.1_3'UTR	p.A109V	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			5	353	+			109		B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	c.326C>T	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584210	0.65992	.	.	ENSG00000198755	ENST00000322203	T	0.37235	1.21	4.6	4.6	0.57074	4.6	4.6	0.57074	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.056931	0.64402	D	0.000002	T	0.23766	0.0575	L	0.53249	1.67	0.80722	D	1	B	0.23442	0.085	B	0.24701	0.055	T	0.09250	-1.0683	10	0.46703	T	0.11	.	16.1008	0.81169	0.0:1.0:0.0:0.0	.	109	P62906	RL10A_HUMAN	V	109	ENSP00000363018:A109V	ENSP00000363018:A109V	A	+	2	0	0	RPL10A	35545949	35545949	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.609000	0.82925	2.124000	0.65301	0.456000	0.33151	GCG		0.498	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1		0.297658	16	16	57	57	NM_007104		3	6.649231	6.649231	33	0.083333	0	0	0	1	0	3	33	0.083333	T	35437971	C	T	35437971	3	4	80	1	0	0	0	0	1	0	0	0	13555	768	27	1	344	1	RPL10A	6	35437971	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3353486	35437971	135677096	166	1681											
C6orf126	389383	broad.mit.edu	37	6	35745315	35745315	+	Missense_Mutation	SNP	T	T	G			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:35745315T>G	ENST00000403376.3	+	2	164	c.164T>G	c.(163-165)tTc>tGc	p.F55C	CLPSL2_ENST00000481904.1_3'UTR|CLPSL2_ENST00000360454.2_Missense_Mutation_p.F55C	NM_207409.2	NP_997292.2	Q6UWE3	COLL2_HUMAN	colipase-like 2	55					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										GGTGGAGCCTTCTGTGCCCCC	0.567																																						ENST00000360454.2											0										c.(163-165)tTc>tGc	colipase-like 2						61	57	58					6																	35745315		2203	4300	6503	SO:0001583	missense	389383			digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35745315T>G			CCDS4810.2, CCDS69095.1	CCDS4810.2, CCDS69095.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	2014-01-28	2012-02-06	2012-02-06	ENSG00000196748	ENSG00000196748	ENSG00000196748	ENSG00000196748				21250	21250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 6 open reading frame 126"	C6orf126	"chromosome 6 open reading frame 126"	C6orf126				Standard	Standard	NM_001286550	NM_001286550		Approved	dJ510O8.5, UNQ3045	uc010jvz.1	uc010jvz.1	Q6UWE3	Q6UWE3	OTTHUMG00000014581	OTTHUMG00000014581	ENST00000403376.3:c.164T>G	6.37:g.35745315T>G	ENSP00000385898:p.Phe55Cys		CLPSL2_ENST00000403376.3_Missense_Mutation_p.F55C|CLPSL2_ENST00000481904.1_3'UTR	p.F55C			Q6UWE3	CF126_HUMAN			2	168	+			55		B0QZ45|Q5T9G3	Missense_Mutation	SNP	ENST00000403376.3	37	c.164T>G	CCDS4810.2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114540	0.77210	.	.	ENSG00000196748	ENST00000360454;ENST00000403376	.	.	.	3.41	3.41	0.39046	3.41	3.41	0.39046	.	0.202751	0.24960	N	0.034231	T	0.54078	0.1836	L	0.57536	1.79	0.32740	N	0.507765	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.57665	-0.7772	9	0.87932	D	0	-35.2339	8.5441	0.33410	0.0:0.0:0.0:1.0	.	55;55	Q6UWE3;Q6UWE3-2	CF126_HUMAN;.	C	55	.	ENSP00000353639:F55C	F	+	2	0	0	C6orf126	35853293	35853293	0.991000	0.36638	0.966000	0.40874	0.784000	0.44337	0.961000	0.29267	1.782000	0.52362	0.459000	0.35465	TTC		0.567	CLPSL2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280618.2		15.936085	0	0	49	49	NM_207409		6	17.852035	17.852035	21	0.222222	0	0	0	1	0	6	21	0.222222	G	35745315	T	G	35745315	3	3	80	1	0	0	0	0	1	0	0	0	2326	1783	62	5	170	5	C6orf126	6	35745315	Missense_Mutation	SNP	T	TCGA-YZ-A985-01A-11D-A39W-08	307344	35745315	135369752	167	1682											
GLP1R	2740	broad.mit.edu	37	6	39053698	39053698	+	Missense_Mutation	SNP	G	G	A	rs368940624		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:39053698G>A	ENST00000373256.4	+	13	1284	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	414					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	CTGGAATTTCGGAAGAGCTGG	0.547																																						ENST00000373256.4											0			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(1240-1242)cGg>cAg	glucagon-like peptide 1 receptor	G	GLN/ARG	0,4406		0,0,2203	139	142	141		1241	5.3	1	6		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLP1R	NM_002062.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	414/464	39053698	1,13005	2203	4300	6503	SO:0001583	missense	2740			activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39053698G>A			CCDS4839.1	CCDS4839.1	6p21	2012-08-10			2012-08-10			ENSG00000112164	ENSG00000112164	ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	"GPCR / Class B : Glucagon receptors"	4324	4324	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138032	138032								Standard	Standard	NM_002062	NM_002062		Approved		uc003ooj.4	uc003ooj.4	P43220	P43220	OTTHUMG00000014638	OTTHUMG00000014638	ENST00000373256.4:c.1241G>A	6.37:g.39053698G>A	ENSP00000362353:p.Arg414Gln			p.R414Q	NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN			13	1284	+			414		Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	c.1241G>A	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663489	0.47572	0.0	1.16E-4	ENSG00000112164	ENST00000373256	T	0.64803	-0.12	6.17	5.3	0.74995	6.17	5.3	0.74995	.	0.000000	0.64402	D	0.000009	T	0.36248	0.0960	L	0.45285	1.41	0.41956	D	0.990683	B	0.18610	0.029	B	0.17433	0.018	T	0.14392	-1.0474	10	0.22109	T	0.4	.	10.3961	0.44201	0.1911:0.0:0.8089:0.0	.	414	P43220	GLP1R_HUMAN	Q	414	ENSP00000362353:R414Q	ENSP00000362353:R414Q	R	+	2	0	0	GLP1R	39161676	39161676	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.976000	0.40579	2.941000	0.99782	0.655000	0.94253	CGG		0.547	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		245.622614	-34	-34	213	213			75	245.6283	245.6283	77	0.493421	0	0	0	1	0	75	77	0.493421	A	39053698	G	A	39053698	3	1	80	1	0	0	0	0	1	0	0	0	6452	1116	39	1	1291	1	GLP1R	6	39053698	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3308383	39053698	132061369	168	1683											
UNC5CL	222643	broad.mit.edu	37	6	41000848	41000848	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:41000848C>T	ENST00000373164.1	-	3	784	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.E242K			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	242	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGCGGGCTTCGCGCCCCACA	0.602																																						ENST00000244565.3											0			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(724-726)Gaa>Aaa	unc-5 homolog C (C. elegans)-like						38	34	36					6																	41000848		2201	4300	6501	SO:0001583	missense	222643			signal transduction	cytoplasm|integral to membrane		g.chr6:41000848C>T	BC035284	BC035284	CCDS4847.1	CCDS4847.1	6p21.1	2013-10-15			2013-10-15			ENSG00000124602	ENSG00000124602	ENSG00000124602	ENSG00000124602				21203	21203	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ZU5 and death domain containing"	"ZU5 and death domain containing"								14769797	14769797	Standard	Standard	NM_173561	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	uc003opi.3	Q8IV45	Q8IV45	OTTHUMG00000014665	OTTHUMG00000014665	ENST00000373164.1:c.724G>A	6.37:g.41000848C>T	ENSP00000362258:p.Glu242Lys		UNC5CL_ENST00000373164.1_Missense_Mutation_p.E242K	p.E242K	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			4	812	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		242	Interaction with RELA and NFKB1.	Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.724G>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	0.048	-1.260412	0.01445	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.13901	2.55;2.55	5.49	2.73	0.32206	5.49	2.73	0.32206	.	1.324110	0.05320	N	0.526352	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.08055	0.003	T	0.39187	-0.9626	10	0.06891	T	0.86	0.3977	7.2747	0.26277	0.0:0.7184:0.0:0.2816	.	242	Q8IV45	UN5CL_HUMAN	K	242	ENSP00000244565:E242K;ENSP00000362258:E242K	ENSP00000244565:E242K	E	-	1	0	0	UNC5CL	41108826	41108826	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	1.031000	0.30165	0.274000	0.22072	-0.140000	0.14226	GAA		0.602	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1		18.349028	1	1	14	14	NM_173561		6	18.365729	18.365729	7	0.461538	0	0	0	1	0	6	7	0.461538	T	41000848	C	T	41000848	3	4	80	1	0	0	0	0	1	0	0	0	16991	893	31	1	856	1	UNC5CL	6	41000848	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1947150	41000848	130114219	169	1684											
UBR2	23304	broad.mit.edu	37	6	42626026	42626026	+	Missense_Mutation	SNP	G	G	A	rs147976047	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:42626026G>A	ENST00000372899.1	+	28	3289	c.3031G>A	c.(3031-3033)Gtg>Atg	p.V1011M	UBR2_ENST00000372901.1_Missense_Mutation_p.V1011M|UBR2_ENST00000372883.3_Missense_Mutation_p.V515M	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1011					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACCAGTCCCGTGGCAGAGAC	0.323													G|||	2	0.000399361	0	0	5008	,	,		17164	0		0.002	False		,,,				2504	0					ENST00000372899.1											0			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(3031-3033)Gtg>Atg	ubiquitin protein ligase E3 component n-recognin 2	G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	56	64	61		3031	4	1	6	dbSNP_134	61	0,8600		0,0,4300	yes	missense	UBR2	NM_015255.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1011/1756	42626026	1,13005	2203	4300	6503	SO:0001583	missense	23304			cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42626026G>A	BC024217	BC024217	CCDS4870.1, CCDS55001.1	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	"Ubiquitin protein ligase E3 component n-recognins"	21289	21289	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609134	609134	"chromosome 6 open reading frame 133"	C6orf133	"chromosome 6 open reading frame 133"	C6orf133				Standard	Standard	NM_015255	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	uc011dur.2	Q8IWV8	Q8IWV8	OTTHUMG00000014703	OTTHUMG00000014703	ENST00000372899.1:c.3031G>A	6.37:g.42626026G>A	ENSP00000361990:p.Val1011Met		UBR2_ENST00000372883.3_Missense_Mutation_p.V515M|UBR2_ENST00000372901.1_Missense_Mutation_p.V1011M	p.V1011M	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		28	3289	+	Colorectal(47;0.196)		1011		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.3031G>A	CCDS4870.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	15.46	2.840548	0.51057	2.27E-4	0.0	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.49720	0.77;0.77;0.77	5.8	4.04	0.47022	5.8	4.04	0.47022	.	0.201836	0.46442	D	0.000292	T	0.39036	0.1063	L	0.54323	1.7	0.43890	D	0.996513	D;P	0.61697	0.99;0.934	P;B	0.51974	0.686;0.34	T	0.17992	-1.0351	10	0.33940	T	0.23	-4.5776	12.5366	0.56145	0.1349:0.0:0.8651:0.0	.	1011;1011	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	M	1011;1011;515	ENSP00000361990:V1011M;ENSP00000361992:V1011M;ENSP00000361974:V515M	ENSP00000361974:V515M	V	+	1	0	0	UBR2	42734004	42734004	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.684000	0.61686	0.798000	0.33994	-0.244000	0.11960	GTG		0.323	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2		53.767981	0	0	59	59	NM_015255		17	54.100687	54.100687	25	0.404762	0	0	0	1	0	17	25	0.404762	A	42626026	G	A	42626026	3	1	80	1	0	0	0	0	1	0	0	0	16899	1145	40	1	3287	1	UBR2	6	42626026	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1625178	42626026	128489041	170	1685											
CUL7	9820	broad.mit.edu	37	6	43010840	43010840	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:43010840C>T	ENST00000265348.3	-	18	3519	c.3434G>A	c.(3433-3435)cGc>cAc	p.R1145H	CUL7_ENST00000535468.1_Missense_Mutation_p.R1229H|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1145					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCGCCAACAGCGCGTCAGGTT	0.592																																						ENST00000535468.1											0			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(3685-3687)cGc>cAc	cullin 7						55	56	55					6																	43010840		2203	4300	6503	SO:0001583	missense	9820			interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43010840C>T	BC033647	BC033647	CCDS4881.1, CCDS55003.1	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090	ENSG00000044090	ENSG00000044090				21024	21024	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609577	609577	"KIAA0076"	KIAA0076	"KIAA0076"	KIAA0076		12481031, 12904573	12481031, 12904573	Standard	Standard	NM_014780	NM_014780		Approved	dJ20C7.5	uc011dvb.2	uc011dvb.2	Q14999	Q14999	OTTHUMG00000014718	OTTHUMG00000014718	ENST00000265348.3:c.3434G>A	6.37:g.43010840C>T	ENSP00000265348:p.Arg1145His		CUL7_ENST00000265348.3_Missense_Mutation_p.R1145H	p.R1229H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		18	3772	-			1145		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3686G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024918	0.75390	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.80123	-1.33;-1.34	5.61	4.63	0.57726	5.61	4.63	0.57726	.	0.430196	0.28042	N	0.016821	T	0.61274	0.2334	L	0.45581	1.43	0.80722	D	1	B;P;B;B	0.34934	0.421;0.476;0.251;0.253	B;B;B;B	0.33392	0.034;0.057;0.163;0.117	T	0.67948	-0.5538	10	0.52906	T	0.07	-13.0531	6.9955	0.24780	0.0:0.7421:0.0:0.2579	.	1229;1145;1229;1145	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	H	1145;1229	ENSP00000265348:R1145H;ENSP00000438788:R1229H	ENSP00000265348:R1145H	R	-	2	0	0	CUL7	43118818	43118818	0.988000	0.35896	1.000000	0.80357	0.915000	0.54546	0.382000	0.20635	2.641000	0.89580	0.591000	0.81541	CGC		0.592	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1		26.871420	-3	-3	56	56	NM_014780		12	29.780974	29.780974	37	0.244898	0	0	0	1	0	12	37	0.244898	T	43010840	C	T	43010840	3	4	80	1	0	0	0	0	1	0	0	0	4060	768	27	1	1698	1	CUL7	6	43010840	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	384814	43010840	128104227	171	1686											
TTBK1	84630	broad.mit.edu	37	6	43251679	43251679	+	Silent	SNP	G	G	A	rs376415608		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:43251679G>A	ENST00000259750.4	+	14	3284	c.3201G>A	c.(3199-3201)tcG>tcA	p.S1067S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1067					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACACGGGCTCGGAGCCCTCAG	0.677																																						ENST00000259750.4											0			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(3199-3201)tcG>tcA	tau tubulin kinase 1	G		4,4346		0,4,2171	22	22	22		3201	-10.5	0.2	6		22	0,8474		0,0,4237	no	coding-synonymous	TTBK1	NM_032538.1		0,4,6408	AA,AG,GG		0.0,0.092,0.0312		1067/1322	43251679	4,12820	2175	4237	6412	SO:0001819	synonymous_variant	84630				cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251679G>A	AB058758	AB058758	CCDS34455.1	CCDS34455.1	6p21.1	2008-02-05			2008-02-05			ENSG00000146216	ENSG00000146216	ENSG00000146216	ENSG00000146216				19140	19140	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11347906	11347906	Standard	Standard	XM_006715229	XM_006715229		Approved	KIAA1855	uc003ouq.1	uc003ouq.1	Q5TCY1	Q5TCY1	OTTHUMG00000014725	OTTHUMG00000014725	ENST00000259750.4:c.3201G>A	6.37:g.43251679G>A				p.S1067S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3284	+			1067		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.3201G>A	CCDS34455.1																																																																																									0.677	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		25.197780	-3	-3	31	31			8	25.246163	25.246163	10	0.444444	0	0	0	1	0	8	10	0.444444	A	43251679	G	A	43251679	2	1	80	1	0	0	0	0	0	0	0	1	16673	1103	39	1		1	TTBK1	6	43251679	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	240839	43251679	127863388	172	1687											
PLA2G7	7941	broad.mit.edu	37	6	46678287	46678287	+	Missense_Mutation	SNP	G	G	C			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:46678287G>C	ENST00000274793.7	-	8	968	c.772C>G	c.(772-774)Ctg>Gtg	p.L258V	PLA2G7_ENST00000541026.1_Missense_Mutation_p.L131V|PLA2G7_ENST00000538237.1_Missense_Mutation_p.L213V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.L258V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	258					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CTTACCTTCAGTTGTTCCATA	0.313																																						ENST00000274793.7											0			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(772-774)Ctg>Gtg	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)						94	93	93					6																	46678287		2203	4300	6503	SO:0001583	missense	7941			inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678287G>C	U20157	U20157	CCDS4917.1	CCDS4917.1	6p21.2-p12	2008-09-19			2008-09-19			ENSG00000146070	ENSG00000146070	ENSG00000146070	ENSG00000146070	3.1.1.4			9040	9040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601690	601690						7700381, 8624782	7700381, 8624782	Standard	Standard	NM_005084	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	uc021zae.1	Q13093	Q13093	OTTHUMG00000014789	OTTHUMG00000014789	ENST00000274793.7:c.772C>G	6.37:g.46678287G>C	ENSP00000274793:p.Leu258Val		PLA2G7_ENST00000538237.1_Missense_Mutation_p.L213V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.L258V|PLA2G7_ENST00000541026.1_Missense_Mutation_p.L131V	p.L258V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		8	968	-			258		A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.772C>G	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402737	0.42613	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.87	4.06	0.47325	5.87	4.06	0.47325	.	0.142315	0.48286	D	0.000182	T	0.62380	0.2423	M	0.88105	2.93	0.28191	N	0.927767	D;P;D;D	0.64830	0.988;0.858;0.994;0.994	D;P;P;D	0.65140	0.932;0.678;0.899;0.925	T	0.59632	-0.7418	10	0.39692	T	0.17	.	6.009	0.19565	0.1347:0.0:0.5854:0.2799	.	131;213;258;258	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	V	258;258;213;131	ENSP00000274793:L258V;ENSP00000445666:L258V;ENSP00000441416:L213V;ENSP00000444164:L131V	ENSP00000274793:L258V	L	-	1	2	2	PLA2G7	46786246	46786246	0.439000	0.25610	0.979000	0.43373	0.636000	0.38137	0.671000	0.25172	0.786000	0.33708	0.655000	0.94253	CTG		0.313	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		3.169029	-7	-7	55	55			4	9.310131	9.310131	35	0.102564	0	0	0	1	0	4	35	0.102564	C	46678287	G	C	46678287	3	2	80	1	0	0	0	0	1	0	0	0	12009	1020	36	5	573	5	PLA2G7	6	46678287	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3426608	46678287	124436780	173	1688											
FUT9	10690	broad.mit.edu	37	6	96651363	96651363	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:96651363G>A	ENST00000302103.5	+	3	658	c.332G>A	c.(331-333)cGa>cAa	p.R111Q		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	111					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATCCATCACCGAGACATCAGT	0.468																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5											0			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(331-333)cGa>cAa	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)						125	109	115					6																	96651363		2203	4300	6503	SO:0001583	missense	10690			L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651363G>A	AB023021	AB023021	CCDS5033.1	CCDS5033.1	6q16	2013-02-26			2013-02-26			ENSG00000172461	ENSG00000172461	ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	"Fucosyltransferases"	4020	4020	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606865	606865						10386598, 10575236	10386598, 10575236	Standard	Standard	NM_006581	NM_006581		Approved	Fuc-TIX	uc003pop.4	uc003pop.4	Q9Y231	Q9Y231	OTTHUMG00000015236	OTTHUMG00000015236	ENST00000302103.5:c.332G>A	6.37:g.96651363G>A	ENSP00000302599:p.Arg111Gln			p.R111Q	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	658	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	111		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.332G>A	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525396	0.85600	.	.	ENSG00000172461	ENST00000302103	T	0.25579	1.79	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.46952	-0.9154	10	0.44086	T	0.13	-7.5419	18.3049	0.90177	0.0:0.0:1.0:0.0	.	111	Q9Y231	FUT9_HUMAN	Q	111	ENSP00000302599:R111Q	ENSP00000302599:R111Q	R	+	2	0	0	FUT9	96758084	96758084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.643000	0.89663	0.655000	0.94253	CGA		0.468	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2		29.308262	-4	-4	59	59	NM_006581		11	30.972955	30.972955	28	0.282051	0	0	0	1	0	11	28	0.282051	A	96651363	G	A	96651363	3	1	80	1	0	0	0	0	1	0	0	0	6111	1058	37	1	334	1	FUT9	6	96651363	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	49973076	96651363	74463704	174	1689											
ASCC3	10973	broad.mit.edu	37	6	101075567	101075567	+	Missense_Mutation	SNP	C	C	T	rs142364575	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:101075567C>T	ENST00000369162.2	-	29	4885	c.4541G>A	c.(4540-4542)cGa>cAa	p.R1514Q		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1514					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TACTGATGGTCGGAAGTTAAA	0.368													C|||	2	0.000399361	8e-04	0	5008	,	,		17003	0.001		0	False		,,,				2504	0					ENST00000369162.2											0			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4540-4542)cGa>cAa	activating signal cointegrator 1 complex subunit 3	C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	84	79	81		4541	5.7	1	6	dbSNP_134	81	0,8600		0,0,4300	no	missense	ASCC3	NM_006828.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	1514/2203	101075567	3,13003	2203	4300	6503	SO:0001583	missense	10973			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101075567C>T	AJ223948	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249	ENSG00000112249	ENSG00000112249				18697	18697	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RNA helicase family"	"RNA helicase family"	614217	614217	"helicase, ATP binding 1"	HELIC1	"helicase, ATP binding 1"	HELIC1		10218103	10218103	Standard	Standard	NM_006828	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	uc003pqk.3	Q8N3C0	Q8N3C0	OTTHUMG00000015279	OTTHUMG00000015279	ENST00000369162.2:c.4541G>A	6.37:g.101075567C>T	ENSP00000358159:p.Arg1514Gln			p.R1514Q	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	29	4885	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1514		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4541G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983016	0.93044	6.81E-4	0.0	ENSG00000112249	ENST00000369162	D	0.91295	-2.82	5.7	5.7	0.88788	5.7	5.7	0.88788	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	D	0.92596	0.6087	10	0.42905	T	0.14	.	19.8206	0.96591	0.0:1.0:0.0:0.0	.	1514	Q8N3C0	HELC1_HUMAN	Q	1514	ENSP00000358159:R1514Q	ENSP00000358159:R1514Q	R	-	2	0	0	ASCC3	101182288	101182288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.689000	0.91719	0.561000	0.74099	CGA		0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		22.791116	12	12	39	39	NM_006828		8	23.510818	23.510818	17	0.32	0	0	0	1	0	8	17	0.32	T	101075567	C	T	101075567	3	4	80	1	0	0	0	0	1	0	0	0	1033	884	31	1	2123	1	ASCC3	6	101075567	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4424204	101075567	70039500	175	1690											
ASCC3	10973	broad.mit.edu	37	6	101075824	101075824	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:101075824C>T	ENST00000369162.2	-	28	4759	c.4415G>A	c.(4414-4416)cGa>cAa	p.R1472Q		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1472	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAATTTGTTCGAGATACAAT	0.393																																						ENST00000369162.2											0			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4414-4416)cGa>cAa	activating signal cointegrator 1 complex subunit 3						108	105	106					6																	101075824		2203	4300	6503	SO:0001583	missense	10973			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101075824C>T	AJ223948	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249	ENSG00000112249	ENSG00000112249				18697	18697	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RNA helicase family"	"RNA helicase family"	614217	614217	"helicase, ATP binding 1"	HELIC1	"helicase, ATP binding 1"	HELIC1		10218103	10218103	Standard	Standard	NM_006828	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	uc003pqk.3	Q8N3C0	Q8N3C0	OTTHUMG00000015279	OTTHUMG00000015279	ENST00000369162.2:c.4415G>A	6.37:g.101075824C>T	ENSP00000358159:p.Arg1472Gln			p.R1472Q	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	28	4759	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1472	Helicase ATP-binding 2.	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4415G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466401	0.96257	.	.	ENSG00000112249	ENST00000369162	T	0.15372	2.43	6.17	6.17	0.99709	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73282	-0.4032	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1472	Q8N3C0	HELC1_HUMAN	Q	1472	ENSP00000358159:R1472Q	ENSP00000358159:R1472Q	R	-	2	0	0	ASCC3	101182545	101182545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGA		0.393	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		10.520426	2	2	54	54	NM_006828		6	15.917413	15.917413	37	0.139535	0	0	0	1	0	6	37	0.139535	T	101075824	C	T	101075824	3	4	80	1	0	0	0	0	1	0	0	0	1033	884	31	1	2253	1	ASCC3	6	101075824	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	257	101075824	70039243	176	1691											
BEND3	57673	broad.mit.edu	37	6	107390354	107390354	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:107390354G>A	ENST00000369042.1	-	4	2231	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	BEND3_ENST00000429433.2_Missense_Mutation_p.R681W			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	681										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AACTCCTCCCGGAACCTCTCG	0.637																																						ENST00000429433.2											0			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(2041-2043)Cgg>Tgg	BEN domain containing 3						27	32	30					6																	107390354		2197	4286	6483	SO:0001583	missense	57673						g.chr6:107390354G>A	AB046773	AB046773	CCDS34507.1	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409	ENSG00000178409	ENSG00000178409		"BEN domain containing"	"BEN domain containing"	23040	23040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"KIAA1553"	KIAA1553	"KIAA1553"	KIAA1553				Standard	Standard	NM_001080450	NM_001080450		Approved		uc003prs.2	uc003prs.2	Q5T5X7	Q5T5X7	OTTHUMG00000015308	OTTHUMG00000015308	ENST00000369042.1:c.2041C>T	6.37:g.107390354G>A	ENSP00000358038:p.Arg681Trp		BEND3_ENST00000369042.1_Missense_Mutation_p.R681W	p.R681W	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2690	-			681		A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.2041C>T	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597851	0.46318	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	4.62	3.72	0.42706	4.62	3.72	0.42706	.	0.065887	0.64402	D	0.000020	T	0.36110	0.0955	N	0.19112	0.55	0.41525	D	0.988425	D	0.69078	0.997	P	0.53490	0.727	T	0.42849	-0.9427	9	0.87932	D	0	-3.1108	11.9824	0.53127	0.0:0.0:0.5577:0.4423	.	681	Q5T5X7	BEND3_HUMAN	W	681	.	ENSP00000358038:R681W	R	-	1	2	2	BEND3	107497047	107497047	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	2.954000	0.49113	1.238000	0.43771	0.455000	0.32223	CGG		0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1		12.227919	-22	-22	42	42	NM_020913		6	16.019763	16.019763	30	0.166667	0	0	0	1	0	6	30	0.166667	A	107390354	G	A	107390354	3	1	80	1	0	0	0	0	1	0	0	0	1399	1115	39	1	449	1	BEND3	6	107390354	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6314530	107390354	63724713	177	1692											
FOXO3	2309	broad.mit.edu	37	6	108985561	108985561	+	Missense_Mutation	SNP	G	G	A	rs535867091	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:108985561G>A	ENST00000343882.6	+	3	1829	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	FOXO3_ENST00000406360.1_Missense_Mutation_p.V509M|FOXO3_ENST00000540898.1_Missense_Mutation_p.V289M	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	509					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V509L(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCGCCGGAACGTGATGCTTCG	0.557													G|||	8	0.00159744	0.0061	0	5008	,	,		22124	0		0	False		,,,				2504	0					ENST00000406360.1											1	Substitution - Missense(1)	endometrium(1)	central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1525-1527)Gtg>Atg	forkhead box O3						19	21	20					6																	108985561		2113	4099	6212	SO:0001583	missense	2309			antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|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 DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985561G>A	AF032886	AF032886	CCDS5068.1	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	"Forkhead boxes"	3821	3821	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602681	602681		FKHRL1, FOXO3A		FKHRL1, FOXO3A		9479491	9479491	Standard	Standard	NM_001455	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	uc003psm.2	O43524	O43524	OTTHUMG00000015327	OTTHUMG00000015327	ENST00000343882.6:c.1525G>A	6.37:g.108985561G>A	ENSP00000339527:p.Val509Met		FOXO3_ENST00000343882.6_Missense_Mutation_p.V509M|FOXO3_ENST00000540898.1_Missense_Mutation_p.V289M	p.V509M	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1868	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	509		B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.1525G>A	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.242929	0.22796	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D;D	0.96522	-4.04;-4.04;-4.04	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.321110	0.33916	N	0.004438	D	0.89462	0.6722	L	0.55990	1.75	0.37317	D	0.909373	P	0.50443	0.935	B	0.36534	0.227	D	0.87932	0.2711	10	0.32370	T	0.25	-12.8009	7.3004	0.26418	0.2012:0.0:0.7988:0.0	.	509	O43524	FOXO3_HUMAN	M	509;509;289;289	ENSP00000339527:V509M;ENSP00000385824:V509M;ENSP00000446316:V289M	ENSP00000339527:V509M	V	+	1	0	0	FOXO3	109092254	109092254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.710000	0.54860	2.648000	0.89879	0.563000	0.77884	GTG		0.557	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2		24.667124	-6	-6	24	24			9	24.996929	24.996929	15	0.375	0	0	0	1	0	9	15	0.375	A	108985561	G	A	108985561	3	1	80	1	0	0	0	0	1	0	0	0	6024	1145	40	1	1531	1	FOXO3	6	108985561	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1595207	108985561	62129506	178	1693											
KIAA1919	91749	broad.mit.edu	37	6	111583554	111583554	+	Missense_Mutation	SNP	G	G	A	rs200995803		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:111583554G>A	ENST00000368847.4	+	2	475	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	41					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGTGGGTCGTGCCTTGGGA	0.383																																						ENST00000368847.4											0			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(121-123)cGt>cAt	KIAA1919						371	349	357					6																	111583554		2203	4300	6503	SO:0001583	missense	91749			carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111583554G>A	BC036115	BC036115	CCDS5090.1	CCDS5090.1	6q22	2013-10-02			2013-10-02			ENSG00000173214	ENSG00000173214	ENSG00000173214	ENSG00000173214				21053	21053	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_153369	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	uc003puv.4	Q5TF39	Q5TF39	OTTHUMG00000015372	OTTHUMG00000015372	ENST00000368847.4:c.122G>A	6.37:g.111583554G>A	ENSP00000357840:p.Arg41His			p.R41H	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	2	475	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	41		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.122G>A	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535304	0.96460	.	.	ENSG00000173214	ENST00000368847	T	0.57436	0.4	6.04	6.04	0.98038	6.04	6.04	0.98038	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73414	-0.3990	10	0.66056	D	0.02	-13.4087	20.1743	0.98175	0.0:0.0:1.0:0.0	.	41	Q5TF39	NAGT1_HUMAN	H	41	ENSP00000357840:R41H	ENSP00000357840:R41H	R	+	2	0	0	KIAA1919	111690247	111690247	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.546000	0.90661	2.873000	0.98535	0.561000	0.74099	CGT		0.383	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1		159.145812	-27	-27	208	208	NM_153369		56	164.720642	164.720642	123	0.312849	0	0	0	1	0	56	123	0.312849	A	111583554	G	A	111583554	3	1	80	1	0	0	0	0	1	0	0	0	8262	1145	40	1	128	1	KIAA1919	6	111583554	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2597993	111583554	59531513	179	1694											
MAN1A1	4121	broad.mit.edu	37	6	119509576	119509576	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:119509576G>A	ENST00000368468.3	-	11	2154	c.1713C>T	c.(1711-1713)gcC>gcT	p.A571A		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	571					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCACCTCTACGGCTTCCCAGG	0.348																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3											0			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1711-1713)gcC>gcT	mannosidase, alpha, class 1A, member 1						133	134	133					6																	119509576		2203	4300	6503	SO:0001819	synonymous_variant	4121			post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119509576G>A	AK025599	AK025599	CCDS5122.1	CCDS5122.1	6q22	2008-08-29			2008-08-29			ENSG00000111885	ENSG00000111885	ENSG00000111885	ENSG00000111885	3.2.1.113			6821	6821	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604344	604344						8223597	8223597	Standard	Standard	NM_005907	NM_005907		Approved		uc003pym.2	uc003pym.2	P33908	P33908	OTTHUMG00000015472	OTTHUMG00000015472	ENST00000368468.3:c.1713C>T	6.37:g.119509576G>A				p.A571A	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	11	2154	-		all_epithelial(87;0.173)	571		E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	ENST00000368468.3	37	c.1713C>T	CCDS5122.1																																																																																									0.348	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1		20.744504	2	2	104	104	NM_005907		12	31.535716	31.535716	74	0.139535	0	0	0	1	0	12	74	0.139535	A	119509576	G	A	119509576	2	1	80	1	0	0	0	0	0	0	0	1	9210	1103	39	1		1	MAN1A1	6	119509576	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7926022	119509576	51605491	180	1695											
GJA1	2697	broad.mit.edu	37	6	121768726	121768726	+	Missense_Mutation	SNP	G	G	A	rs367628979		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:121768726G>A	ENST00000282561.3	+	2	890	c.733G>A	c.(733-735)Gac>Aac	p.D245N		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	245					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GGGAAAGAGCGACCCTTACCA	0.507																																						ENST00000282561.3											0			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(733-735)Gac>Aac	gap junction protein, alpha 1, 43kDa	G	ASN/ASP	0,4406		0,0,2203	100	99	99		733	4.8	0.8	6		99	1,8599		0,1,4299	no	missense	GJA1	NM_000165.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	245/383	121768726	1,13005	2203	4300	6503	SO:0001583	missense	2697			cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768726G>A	BC026329	BC026329	CCDS5123.1	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661	ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	"Ion channels / Gap junction proteins (connexins)"	4274	4274	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	10331943, 1646158	Standard	Standard	NM_000165	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	uc003pyr.3	P17302	P17302	OTTHUMG00000015479	OTTHUMG00000015479	ENST00000282561.3:c.733G>A	6.37:g.121768726G>A	ENSP00000282561:p.Asp245Asn			p.D245N	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	890	+			245		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.733G>A	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	3.137	-0.177081	0.06380	0.0	1.16E-4	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.97066	-4.23	5.71	4.84	0.62591	5.71	4.84	0.62591	.	0.730394	0.11003	U	0.610297	D	0.89174	0.6640	N	0.12182	0.205	0.42019	D	0.990972	B	0.17268	0.021	B	0.08055	0.003	T	0.78645	-0.2123	10	0.28530	T	0.3	.	16.7504	0.85484	0.0:0.1293:0.8707:0.0	.	245	P17302	CXA1_HUMAN	N	229;245	ENSP00000282561:D245N	ENSP00000282561:D245N	D	+	1	0	0	GJA1	121810425	121810425	1.000000	0.71417	0.843000	0.33291	0.010000	0.07245	4.206000	0.58473	1.404000	0.46819	0.585000	0.79938	GAC		0.507	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1		17.085984	8	8	65	65	NM_000165		8	20.027111	20.027111	30	0.210526	0	0	0	1	0	8	30	0.210526	A	121768726	G	A	121768726	3	1	80	1	0	0	0	0	1	0	0	0	6400	1058	37	1	735	1	GJA1	6	121768726	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2259150	121768726	49346341	181	1696											
C6orf192	116843	broad.mit.edu	37	6	133094153	133094153	+	Missense_Mutation	SNP	G	G	A	rs573567211		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:133094153G>A	ENST00000275227.4	-	10	1160	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	SLC18B1_ENST00000538764.1_Missense_Mutation_p.P229L	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	355					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											GAGAATTTCCGGGAAAGTTGG	0.398													G|||	1	0.000199681	8e-04	0	5008	,	,		13505	0		0	False		,,,				2504	0					ENST00000275227.4											0										c.(1063-1065)cCg>cTg	solute carrier family 18, subfamily B, member 1						69	70	69					6																	133094153		2203	4300	6503	SO:0001583	missense	116843			transmembrane transport	integral to membrane		g.chr6:133094153G>A	AK124442	AK124442	CCDS5163.1	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409	ENSG00000146409	ENSG00000146409		"Solute carriers"	"Solute carriers"	21573	21573	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613361	613361	"chromosome 6 open reading frame 192"	C6orf192	"chromosome 6 open reading frame 192"	C6orf192		19697161	19697161	Standard	Standard	XM_006715328	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	uc003qdw.1	Q6NT16	Q6NT16	OTTHUMG00000015595	OTTHUMG00000015595	ENST00000275227.4:c.1064C>T	6.37:g.133094153G>A	ENSP00000275227:p.Pro355Leu		SLC18B1_ENST00000538764.1_Missense_Mutation_p.P229L	p.P355L	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN			10	1160	-			355		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	c.1064C>T	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405589	0.83230	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.57107	0.42;0.42	5.87	5.01	0.66863	5.87	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050618	0.85682	D	0.000000	T	0.60547	0.2277	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.69307	0.963;0.781	T	0.63056	-0.6722	10	0.37606	T	0.19	-10.8111	12.305	0.54898	0.0793:0.0:0.9207:0.0	.	229;355	B7Z1S5;Q6NT16	.;CF192_HUMAN	L	355;229	ENSP00000275227:P355L;ENSP00000444098:P229L	ENSP00000275227:P355L	P	-	2	0	0	C6orf192	133135846	133135846	1.000000	0.71417	0.910000	0.35882	0.994000	0.84299	5.535000	0.67173	1.501000	0.48654	0.585000	0.79938	CCG		0.398	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1		14.432651	17	17	53	53	NM_052831		6	17.148848	17.148848	25	0.193548	0	0	0	1	0	6	25	0.193548	A	133094153	G	A	133094153	3	1	80	1	0	0	0	0	1	0	0	0	2349	1116	39	1	326	1	C6orf192	6	133094153	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	11325427	133094153	38020914	182	1697											
AHI1	54806	broad.mit.edu	37	6	135778798	135778798	+	Nonsense_Mutation	SNP	G	G	A	rs201391050		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:135778798G>A	ENST00000367800.4	-	7	1201	c.985C>T	c.(985-987)Cga>Tga	p.R329*	AHI1_ENST00000457866.2_Nonsense_Mutation_p.R329*|AHI1_ENST00000327035.6_Nonsense_Mutation_p.R329*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	329	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GGGCTATCTCGGCTTGTTATT	0.358																																						ENST00000367800.4											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	GRCh37	CM080032	AHI1	M		c.(985-987)Cga>Tga	Abelson helper integration site 1						169	162	164					6																	135778798		1913	4114	6027	SO:0001587	stop_gained	54806				adherens junction|cilium|microtubule basal body		g.chr6:135778798G>A	AJ459824	AJ459824	CCDS47483.1, CCDS47484.1	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541	ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	"WD repeat domain containing"	21575	21575	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Jouberin"	"Jouberin"	608894	608894	"Abelson helper integration site"		"Abelson helper integration site"			15060101, 16240161	15060101, 16240161	Standard	Standard	NM_017651	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	uc003qgj.3	Q8N157	Q8N157	OTTHUMG00000015631	OTTHUMG00000015631	ENST00000367800.4:c.985C>T	6.37:g.135778798G>A	ENSP00000356774:p.Arg329*		AHI1_ENST00000327035.6_Nonsense_Mutation_p.R329*|AHI1_ENST00000457866.2_Nonsense_Mutation_p.R329*	p.R329*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	7	1201	-	Breast(56;0.239)|Colorectal(23;0.24)		329		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Nonsense_Mutation	SNP	ENST00000367800.4	37	c.985C>T	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	G	38	6.781126	0.97833	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	.	.	.	5.5	4.6	0.57074	5.5	4.6	0.57074	.	1.206670	0.05757	N	0.604317	.	.	.	.	.	.	0.39994	D	0.975072	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.1692	5.6965	0.17859	0.1194:0.0:0.6911:0.1894	.	.	.	.	X	329	.	ENSP00000265602:R329X	R	-	1	2	2	AHI1	135820491	135820491	0.883000	0.30277	0.897000	0.35233	0.430000	0.31655	1.508000	0.35769	2.586000	0.87340	0.460000	0.39030	CGA		0.358	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1		123.443582	14	14	91	91	NM_017651		38	123.609082	123.609082	46	0.452381	0	0	0	1	0	38	46	0.452381	A	135778798	G	A	135778798	4	1	80	1	0	0	0	0	0	1	0	0	413	1124	39	1	2746	1	AHI1	6	135778798	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2684645	135778798	35336269	183	1698											
MAP3K5	4217	broad.mit.edu	37	6	136888863	136888863	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:136888863C>T	ENST00000359015.4	-	26	4027	c.3667G>A	c.(3667-3669)Gtg>Atg	p.V1223M	MAP3K5_ENST00000355845.4_Missense_Mutation_p.V470M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1223					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGCGTGCTCACGCCTGAGGTA	0.468																																						ENST00000359015.4											0			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(3667-3669)Gtg>Atg	mitogen-activated protein kinase kinase kinase 5						138	105	116					6																	136888863		2203	4300	6503	SO:0001583	missense	4217			activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136888863C>T	U67156	U67156	CCDS5179.1	CCDS5179.1	6q22.33	2011-06-09			2011-06-09			ENSG00000197442	ENSG00000197442	ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	6857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	"apoptosis signal regulating kinase 1"	602448	602448		MEKK5		MEKK5		9465908	9465908	Standard	Standard	NM_005923	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	uc003qhc.3	Q99683	Q99683	OTTHUMG00000015647	OTTHUMG00000015647	ENST00000359015.4:c.3667G>A	6.37:g.136888863C>T	ENSP00000351908:p.Val1223Met		MAP3K5_ENST00000355845.4_Missense_Mutation_p.V470M	p.V1223M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	26	4027	-	Colorectal(23;0.24)		1223		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.3667G>A	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333670	0.81801	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	T;T	0.73363	-0.58;-0.74	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.89917	0.996;1.0	P;D	0.80764	0.818;0.994	T	0.79841	-0.1633	10	0.35671	T	0.21	.	19.1483	0.93477	0.0:1.0:0.0:0.0	.	1304;1223	Q59GL6;Q99683	.;M3K5_HUMAN	M	1223;470	ENSP00000351908:V1223M;ENSP00000348104:V470M	ENSP00000348104:V470M	V	-	1	0	0	MAP3K5	136930556	136930556	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.263000	0.78421	2.513000	0.84729	0.561000	0.74099	GTG		0.468	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		8.154027	-3	-3	40	40			5	11.765302	11.765302	27	0.15625	0	0	0	1	0	5	27	0.15625	T	136888863	C	T	136888863	3	4	80	1	0	0	0	0	1	0	0	0	9253	536	19	1	477	1	MAP3K5	6	136888863	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1110065	136888863	34226204	184	1699											
UTRN	7402	broad.mit.edu	37	6	144814587	144814587	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:144814587G>A	ENST00000367545.3	+	32	4588	c.4588G>A	c.(4588-4590)Gca>Aca	p.A1530T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1530	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGACCTGGGCGCACAGGTGAG	0.468																																						ENST00000367545.3											0			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(4588-4590)Gca>Aca	utrophin						72	62	65					6																	144814587		2203	4300	6503	SO:0001583	missense	7402			muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144814587G>A	AK023675	AK023675	CCDS34547.1	CCDS34547.1	6q24	2008-02-05	2006-12-13		2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818	ENSG00000152818	ENSG00000152818				12635	12635	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			128240	128240	"utrophin (homologous to dystrophin)"	DMDL	"utrophin (homologous to dystrophin)"	DMDL		1426262	1426262	Standard	Standard	NM_007124	NM_007124		Approved	DRP, DRP1	uc003qkt.3	uc003qkt.3	P46939	P46939	OTTHUMG00000015746	OTTHUMG00000015746	ENST00000367545.3:c.4588G>A	6.37:g.144814587G>A	ENSP00000356515:p.Ala1530Thr			p.A1530T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	32	4588	+		Ovarian(120;0.218)	1530	Interaction with SYNM.	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4588G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617554	0.87359	.	.	ENSG00000152818	ENST00000367545	T	0.35421	1.31	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.52532	D	0.000080	T	0.49932	0.1586	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.32955	-0.9887	10	0.29301	T	0.29	.	19.0104	0.92871	0.0:0.0:1.0:0.0	.	1530	P46939	UTRO_HUMAN	T	1530	ENSP00000356515:A1530T	ENSP00000356515:A1530T	A	+	1	0	0	UTRN	144856280	144856280	1.000000	0.71417	0.937000	0.37676	0.740000	0.42216	6.605000	0.74155	2.487000	0.83934	0.655000	0.94253	GCA		0.468	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		60.922463	-2	-2	43	43			19	61.712194	61.712194	9	0.678571	0	0	0	1	0	19	9	0.678571	A	144814587	G	A	144814587	3	1	80	1	0	0	0	0	1	0	0	0	17100	1087	38	1	4714	1	UTRN	6	144814587	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7925724	144814587	26300480	185	1700											
IYD	389434	broad.mit.edu	37	6	150719260	150719260	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:150719260C>T	ENST00000344419.3	+	5	897	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	IYD_ENST00000229447.5_Missense_Mutation_p.P290L	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	253					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GCTCCTGGGCCGCCCCGCACA	0.557																																						ENST00000344419.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(757-759)Cgc>Tgc	iodotyrosine deiodinase						76	74	75					6																	150719260		2203	4300	6503	SO:0001583	missense	389434			cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150719260C>T	AK129950	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765	ENSG00000009765	ENSG00000009765				21071	21071	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612025	612025	"chromosome 6 open reading frame 71"	C6orf71	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	16316988, 15289438	Standard	Standard	NM_001164694	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	uc003qnx.2	Q6PHW0	Q6PHW0	OTTHUMG00000016347	OTTHUMG00000016347	ENST00000344419.3:c.757C>T	6.37:g.150719260C>T	ENSP00000343763:p.Arg253Cys		IYD_ENST00000229447.5_Missense_Mutation_p.P290L	p.R253C	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	5	897	+		Ovarian(120;0.028)	253		C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.757C>T	CCDS5227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.164931|4.164931	0.78339|0.78339	.|.	.|.	ENSG00000009765|ENSG00000009765	ENST00000229447|ENST00000344419	D|T	0.89343|0.76186	-2.5|-1.0	6.06|6.06	6.06|6.06	0.98353|0.98353	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Nitroreductase-like (3);	0.055170|.	0.64402|.	D|.	0.000001|.	D|D	0.88991|0.88991	0.6588|0.6588	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	P|D	0.36483|0.89917	0.555|1.0	B|D	0.24394|0.91635	0.053|0.999	D|D	0.89371|0.89371	0.3675|0.3675	10|9	0.87932|0.62326	D|D	0|0.03	-30.6384|-30.6384	20.6244|20.6244	0.99512|0.99512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	290|253	C9JFW2|Q6PHW0	.|IYD1_HUMAN	L|C	290|253	ENSP00000229447:P290L|ENSP00000343763:R253C	ENSP00000229447:P290L|ENSP00000343763:R253C	P|R	+|+	2|1	0|0	0|0	IYD|IYD	150760953|150760953	150760953|150760953	1.000000|1.000000	0.71417|0.71417	0.778000|0.778000	0.31720|0.31720	0.515000|0.515000	0.34225|0.34225	4.631000|4.631000	0.61304|0.61304	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.557	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3		2.297431	10	10	115	115	NM_203395		6	14.47374	14.47374	64	0.085714	0	0	0	1	0	6	64	0.085714	T	150719260	C	T	150719260	3	4	80	1	0	0	0	0	1	0	0	0	7932	652	23	1	952	1	IYD	6	150719260	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5904673	150719260	20395807	186	1701											
ESR1	2099	broad.mit.edu	37	6	152332878	152332878	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:152332878C>T	ENST00000206249.3	+	5	1546	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	ESR1_ENST00000338799.5_Missense_Mutation_p.S395F|ESR1_ENST00000443427.1_Missense_Mutation_p.S395F|ESR1_ENST00000456483.2_Missense_Mutation_p.S283F|ESR1_ENST00000427531.2_Missense_Mutation_p.S222F|ESR1_ENST00000440973.1_Missense_Mutation_p.S395F|ESR1_ENST00000406599.1_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	395	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GTCTGGCGCTCCATGGAGCAC	0.493																																						ENST00000440973.1											0			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1183-1185)tCc>tTc	estrogen receptor 1						144	129	134					6																	152332878		2203	4300	6503	SO:0001583	missense	2099			positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152332878C>T	X03635	X03635	CCDS5234.1	CCDS5234.1	6q24-q27	2013-01-16			2013-01-16			ENSG00000091831	ENSG00000091831	ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	"Nuclear hormone receptors"	3467	3467	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			133430	133430		ESR		ESR		3754034	3754034	Standard	Standard	NM_000125	NM_000125		Approved	NR3A1, Era	uc003qon.4	uc003qon.4	P03372	P03372	OTTHUMG00000016103	OTTHUMG00000016103	ENST00000206249.3:c.1184C>T	6.37:g.152332878C>T	ENSP00000206249:p.Ser395Phe		ESR1_ENST00000456483.2_Missense_Mutation_p.S283F|ESR1_ENST00000427531.2_Missense_Mutation_p.S222F|ESR1_ENST00000443427.1_Missense_Mutation_p.S395F|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.S395F|ESR1_ENST00000338799.5_Missense_Mutation_p.S395F	p.S395F	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	7	1554	+		Ovarian(120;0.0448)	395	Interaction with AKAP13.|Steroid-binding.	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1184C>T	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	4.999208|4.999208	0.93227|0.93227	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488	.|D;D;D;D;D;D;D	.|0.97378	.|-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	5.42|5.42	5.42|5.42	0.78866|0.78866	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99080|0.99080	0.9684|0.9684	H|H	0.96489|0.96489	3.83|3.83	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.998;0.999;0.998;0.999;0.998;0.999	D|D	0.99421|0.99421	1.0933|1.0933	5|10	.|0.87932	.|D	.|0	.|.	19.21|19.21	0.93749|0.93749	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|299;176;90;394;395;395	.|B0QYW6;E7EVR3;C8CJL6;A8KAF4;G4XH65;P03372	.|.;.;.;.;.;ESR1_HUMAN	S|F	300|395;395;283;176;395;395;323;222;68	.|ENSP00000405330:S395F;ENSP00000342630:S395F;ENSP00000415934:S283F;ENSP00000387500:S395F;ENSP00000206249:S395F;ENSP00000445454:S222F;ENSP00000401995:S68F	.|ENSP00000206249:S395F	P|S	+|+	1|2	0|0	0|0	ESR1|ESR1	152374571|152374571	152374571|152374571	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.541000|2.541000	0.85698|0.85698	0.591000|0.591000	0.81541|0.81541	CCA|TCC		0.493	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		149.420684	-23	-23	119	119			47	149.440879	149.440879	50	0.484536	0	0	0	1	0	47	50	0.484536	T	152332878	C	T	152332878	3	4	80	1	0	0	0	0	1	0	0	0	5256	855	30	3	1202	3	ESR1	6	152332878	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1613618	152332878	18782189	187	1702											
SYTL3	94120	broad.mit.edu	37	6	159181683	159181683	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:159181683C>T	ENST00000297239.9	+	14	1514	c.1320C>T	c.(1318-1320)taC>taT	p.Y440Y	SYTL3_ENST00000367081.3_Silent_p.Y166Y|SYTL3_ENST00000360448.3_Silent_p.Y372Y			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	440					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGGAGAAATACGAAGACAGCG	0.547																																						ENST00000297239.9											0			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1318-1320)taC>taT	synaptotagmin-like 3						114	106	109					6																	159181683		2203	4300	6503	SO:0001819	synonymous_variant	94120			intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159181683C>T	AK055750	AK055750	CCDS34563.1, CCDS56458.1	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			2008-07-04			ENSG00000164674	ENSG00000164674	ENSG00000164674	ENSG00000164674				15587	15587	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11773082	11773082	Standard	Standard	NM_001242384	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	uc003qrp.3	Q4VX76	Q4VX76	OTTHUMG00000015916	OTTHUMG00000015916	ENST00000297239.9:c.1320C>T	6.37:g.159181683C>T			SYTL3_ENST00000360448.3_Silent_p.Y372Y|SYTL3_ENST00000367081.3_Silent_p.Y166Y	p.Y440Y			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	14	1514	+		Breast(66;0.000776)|Ovarian(120;0.0303)	440		Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	c.1320C>T	CCDS56458.1																																																																																									0.547	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		50.690701	-17	-17	100	100			19	54.8322	54.8322	56	0.253333	0	0	0	1	0	19	56	0.253333	T	159181683	C	T	159181683	2	4	80	1	0	0	0	0	0	0	0	1	15481	547	19	1		1	SYTL3	6	159181683	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6848805	159181683	11933384	188	1703											
FNDC1	84624	broad.mit.edu	37	6	159646638	159646638	+	Missense_Mutation	SNP	G	G	A	rs544765580		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:159646638G>A	ENST00000297267.9	+	8	1156	c.956G>A	c.(955-957)cGt>cAt	p.R319H	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.R319H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	319	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTAACAGGCGTGTGCTGATT	0.463																																						ENST00000297267.9											0			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(955-957)cGt>cAt	fibronectin type III domain containing 1						233	233	233					6																	159646638		1966	4165	6131	SO:0001583	missense	84624				extracellular region		g.chr6:159646638G>A	AB058769	AB058769	CCDS47512.1	CCDS47512.1	6q25	2013-02-11			2013-02-11			ENSG00000164694	ENSG00000164694	ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	"Fibronectin type III domain containing"	21184	21184	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609991	609991	"fibronectin type III domain containing 2"	FNDC2	"fibronectin type III domain containing 2"	FNDC2		11347906	11347906	Standard	Standard	NM_032532	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	uc010kjv.3	Q4ZHG4	Q4ZHG4	OTTHUMG00000015927	OTTHUMG00000015927	ENST00000297267.9:c.956G>A	6.37:g.159646638G>A	ENSP00000297267:p.Arg319His		FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.R319H	p.R319H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	8	1156	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	319	Fibronectin type-III 3.	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.956G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019229	0.75275	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.57107	0.42;0.42	5.84	5.84	0.93424	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	L	0.55481	1.735	0.39551	D	0.968971	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65207	-0.6224	10	0.59425	D	0.04	-18.2714	20.1346	0.98019	0.0:0.0:1.0:0.0	.	319;319	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	319	ENSP00000297267:R319H;ENSP00000342460:R319H	ENSP00000297267:R319H	R	+	2	0	0	FNDC1	159566626	159566626	1.000000	0.71417	0.382000	0.26119	0.521000	0.34408	9.347000	0.97059	2.765000	0.95021	0.655000	0.94253	CGT		0.463	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		133.944794	-12	-12	163	163	NM_032532		45	135.591141	135.591141	75	0.375	0	0	0	1	0	45	75	0.375	A	159646638	G	A	159646638	3	1	80	1	0	0	0	0	1	0	0	0	5968	1145	40	1	986	1	FNDC1	6	159646638	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	464955	159646638	11468429	189	1704											
LPA	4018	broad.mit.edu	37	6	161027540	161027540	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:161027540C>T	ENST00000316300.5	-	17	2798	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P	LPA_ENST00000447678.1_Silent_p.P918P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3426	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGCTTGGAATCGGGGTAATAG	0.527																																						ENST00000447678.1											0			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2752-2754)ccG>ccA	lipoprotein, Lp(a)						95	97	96					6																	161027540		1979	4213	6192	SO:0001819	synonymous_variant	4018			blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027540C>T	X06290	X06290	CCDS43523.1	CCDS43523.1	6q25-q26	2012-10-02			2012-10-02			ENSG00000198670	ENSG00000198670	ENSG00000198670	ENSG00000198670				6667	6667	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			152200	152200		LP		LP		3670400	3670400	Standard	Standard	NM_005577	NM_005577		Approved		uc003qtl.3	uc003qtl.3	P08519	P08519	OTTHUMG00000015956	OTTHUMG00000015956	ENST00000316300.5:c.2754G>A	6.37:g.161027540C>T			LPA_ENST00000316300.5_Silent_p.P918P	p.P918P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2874	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3426	Kringle 8.	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.2754G>A	CCDS43523.1																																																																																									0.527	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		-12.178249	10	10	138	138	NM_005577		4	7.808217	7.808217	86	0.044444	0	0	0	1	0	4	86	0.044444	T	161027540	C	T	161027540	2	4	80	1	0	0	0	0	0	0	0	1	8903	871	31	1		1	LPA	6	161027540	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1380902	161027540	10087527	190	1705											
THBS2	7058	broad.mit.edu	37	6	169648976	169648976	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:169648976C>T	ENST00000366787.3	-	4	394	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	49	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACGCCGGGGTCGGGCCCGCGG	0.577																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3											0			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(145-147)Gac>Aac	thrombospondin 2						97	79	85					6																	169648976		2203	4300	6503	SO:0001583	missense	7058			cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648976C>T			CCDS34574.1	CCDS34574.1	6q27	2008-07-28			2008-07-28			ENSG00000186340	ENSG00000186340	ENSG00000186340	ENSG00000186340				11786	11786	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188061	188061						18455130	18455130	Standard	Standard	NM_003247	NM_003247		Approved	TSP2	uc003qwt.3	uc003qwt.3	P35442	P35442	OTTHUMG00000045408	OTTHUMG00000045408	ENST00000366787.3:c.145G>A	6.37:g.169648976C>T	ENSP00000355751:p.Asp49Asn			p.D49N	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	394	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	49	Heparin-binding (Potential).|TSP N-terminal.	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.145G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981105	0.34942	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T;T	0.02280	4.36;4.36	4.42	4.42	0.53409	4.42	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.42821	U	0.000644	T	0.01558	0.0050	M	0.66939	2.045	0.27434	N	0.95393	B	0.10296	0.003	B	0.06405	0.002	T	0.27331	-1.0077	10	0.87932	D	0	-43.6698	11.9595	0.53001	0.0:0.9152:0.0:0.0848	.	49	P35442	TSP2_HUMAN	N	49	ENSP00000355751:D49N;ENSP00000398928:D49N	ENSP00000355751:D49N	D	-	1	0	0	THBS2	169390901	169390901	0.549000	0.26481	0.332000	0.25469	0.472000	0.32918	1.063000	0.30567	2.180000	0.69256	0.462000	0.41574	GAC		0.577	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		12.437873	10	10	43	43	NM_003247		6	14.546889	14.546889	22	0.214286	0	0	0	1	0	6	22	0.214286	T	169648976	C	T	169648976	3	4	80	1	0	0	0	0	1	0	0	0	15851	884	31	1	3453	1	THBS2	6	169648976	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8621436	169648976	1466091	191	1706											
WDR27	253769	broad.mit.edu	37	6	170068142	170068142	+	Missense_Mutation	SNP	G	G	A	rs376971037		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:170068142G>A	ENST00000448612.1	-	5	705	c.596C>T	c.(595-597)gCg>gTg	p.A199V	WDR27_ENST00000420344.2_Intron|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000333572.6_Missense_Mutation_p.A199V|WDR27_ENST00000546525.1_5'Flank	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	169						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GAACTCCACCGCAGTCACCGG	0.632																																						ENST00000333572.6											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(595-597)gCg>gTg	WD repeat domain 27	G	VAL/ALA,	0,4144		0,0,2072	66	78	74		596,	5.2	0.1	6		74	1,8393		0,1,4196	no	missense,intron	WDR27	NM_182552.4,NM_001202550.1	64,	0,1,6268	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,	199/896,	170068142	1,12537	2072	4197	6269	SO:0001583	missense	253769						g.chr6:170068142G>A	AK131435	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465	ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	"WD repeat domain containing"	21248	21248	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_182552	NM_182552		Approved	MGC43690	uc003qwx.3	uc003qwx.3	A2RRH5	A2RRH5	OTTHUMG00000016061	OTTHUMG00000016061	ENST00000448612.1:c.596C>T	6.37:g.170068142G>A	ENSP00000416289:p.Ala199Val		WDR27_ENST00000423258.1_Intron|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000448612.1_Missense_Mutation_p.A199V	p.A199V			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	5	1115	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	169		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.596C>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660163	0.88154	0.0	1.19E-4	ENSG00000184465	ENST00000448612;ENST00000333572	T;T	0.61859	0.07;0.07	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.080255	0.48767	D	0.000172	T	0.67392	0.2888	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.95;0.963	T	0.70726	-0.4793	10	0.72032	D	0.01	-20.5923	17.5919	0.87999	0.0:0.0:1.0:0.0	.	199;199	F2Z2U5;C9JGV0	.;.	V	199	ENSP00000416289:A199V;ENSP00000330265:A199V	ENSP00000330265:A199V	A	-	2	0	0	WDR27	169810067	169810067	0.988000	0.35896	0.057000	0.19452	0.910000	0.53928	4.845000	0.62853	2.452000	0.82932	0.650000	0.86243	GCG		0.632	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1		18.012097	2	2	30	30	NM_182552		7	19.602425	19.602425	21	0.25	0	0	0	1	0	7	21	0.25	A	170068142	G	A	170068142	3	1	80	1	0	0	0	0	1	0	0	0	17281	1087	38	1	2061	1	WDR27	6	170068142	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	419166	170068142	1046925	192	1707											
CHST12	55501	broad.mit.edu	37	7	2472887	2472887	+	Missense_Mutation	SNP	G	G	A	rs138563894		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:2472887G>A	ENST00000258711.6	+	2	748	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	205					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CATCCCGCGCGAGCACGTGCA	0.647																																						ENST00000258711.6											0			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(613-615)Gag>Aag	carbohydrate (chondroitin 4) sulfotransferase 12	G	LYS/GLU	0,4406		0,0,2203	46	38	40		613	5.2	0.6	7	dbSNP_134	40	1,8591	1.2+/-3.3	0,1,4295	no	missense	CHST12	NM_018641.4	56	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	205/415	2472887	1,12997	2203	4296	6499	SO:0001583	missense	55501			dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472887G>A	AF239822	AF239822	CCDS5333.1	CCDS5333.1	7p22	2007-03-14			2007-03-14			ENSG00000136213	ENSG00000136213	ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	"Sulfotransferases, membrane-bound"	17423	17423	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610129	610129						10781601	10781601	Standard	Standard	NM_018641	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	uc021zyu.1	Q9NRB3	Q9NRB3	OTTHUMG00000023849	OTTHUMG00000023849	ENST00000258711.6:c.613G>A	7.37:g.2472887G>A	ENSP00000258711:p.Glu205Lys			p.E205K	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	748	+		Ovarian(82;0.0253)	205		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.613G>A	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492927	0.44352	0.0	1.16E-4	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.73152	1.87;-0.72	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.260251	0.38436	N	0.001697	T	0.62208	0.2409	L	0.39245	1.2	0.53005	D	0.999964	D	0.55605	0.972	B	0.40410	0.328	T	0.61103	-0.7130	10	0.17832	T	0.49	3.0E-4	18.7861	0.91955	0.0:0.0:1.0:0.0	.	205	Q9NRB3	CHSTC_HUMAN	K	205	ENSP00000258711:E205K;ENSP00000411207:E205K	ENSP00000258711:E205K	E	+	1	0	0	CHST12	2439413	2439413	1.000000	0.71417	0.560000	0.28344	0.576000	0.36127	6.371000	0.73119	2.451000	0.82905	0.561000	0.74099	GAG		0.647	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3		41.677496	-4	-4	29	29	NM_018641		13	41.762685	41.762685	10	0.565217	0	0	0	1	0	13	10	0.565217	A	2472887	G	A	2472887	3	1	80	1	0	0	0	0	1	0	0	0	3400	1059	37	1	615	1	CHST12	7	2472887	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		2472887	156665776	193	1708											
RADIL	55698	broad.mit.edu	37	7	4917502	4917502	+	Missense_Mutation	SNP	C	C	T	rs369472639		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:4917502C>T	ENST00000399583.3	-	2	456	c.269G>A	c.(268-270)cGt>cAt	p.R90H	RADIL_ENST00000536091.1_Missense_Mutation_p.R90H	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	90	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCAGCTCACGGGCGCTGGA	0.677																																						ENST00000399583.3											0			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(268-270)cGt>cAt	Ras association and DIL domains	C	HIS/ARG	1,4005		0,1,2002	22	27	26		269	-4.7	0.8	7		26	0,8252		0,0,4126	no	missense	RADIL	NM_018059.4	29	0,1,6128	TT,TC,CC		0.0,0.025,0.0082	benign	90/1076	4917502	1,12257	2003	4126	6129	SO:0001583	missense	55698			cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917502C>T	AB058752	AB058752	CCDS43544.1	CCDS43544.1	7p22.1	2010-08-27			2010-08-27			ENSG00000157927	ENSG00000157927	ENSG00000157927	ENSG00000157927				22226	22226	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611491	611491						16051602, 17704304	16051602, 17704304	Standard	Standard	NM_018059	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	uc003snj.1	Q96JH8	Q96JH8	OTTHUMG00000151753	OTTHUMG00000151753	ENST00000399583.3:c.269G>A	7.37:g.4917502C>T	ENSP00000382492:p.Arg90His		RADIL_ENST00000536091.1_Missense_Mutation_p.R90H	p.R90H	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	456	-		Ovarian(82;0.0175)	90	Ras-associating.	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.269G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071178	0.36566	2.5E-4	0.0	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T;T	0.18960	2.18;2.18;2.18	5.83	-4.73	0.03259	5.83	-4.73	0.03259	Ras-association (3);	0.676927	0.14831	N	0.295865	T	0.12475	0.0303	L	0.35854	1.095	0.20196	N	0.999926	B	0.26775	0.159	B	0.15870	0.014	T	0.12967	-1.0527	10	0.45353	T	0.12	-12.2738	9.556	0.39339	0.0872:0.2855:0.0:0.6273	.	90	Q96JH8	RADIL_HUMAN	H	90;64;90;90	ENSP00000382492:R90H;ENSP00000442533:R90H;ENSP00000398057:R90H	ENSP00000320946:R64H	R	-	2	0	0	RADIL	4884028	4884028	0.042000	0.20092	0.777000	0.31699	0.586000	0.36452	-0.269000	0.08596	-0.651000	0.05415	-0.378000	0.06908	CGT		0.677	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2		34.591729	3	3	42	42	NM_018059		12	34.716906	34.716906	16	0.428571	0	0	0	1	0	12	16	0.428571	T	4917502	C	T	4917502	3	4	80	1	0	0	0	0	1	0	0	0	12997	536	19	1	3014	1	RADIL	7	4917502	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2444615	4917502	154221161	194	1709											
RADIL	55698	broad.mit.edu	37	7	4917629	4917629	+	Missense_Mutation	SNP	C	C	T	rs200059500		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:4917629C>T	ENST00000399583.3	-	2	329	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	RADIL_ENST00000536091.1_Missense_Mutation_p.A48T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	48					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCATCGCTGGCGCCCAGGCTG	0.627																																						ENST00000399583.3											0			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(142-144)Gcc>Acc	Ras association and DIL domains	C	THR/ALA	2,4034		0,2,2016	18	23	21		142	-0.8	0	7		21	0,8356		0,0,4178	yes	missense	RADIL	NM_018059.4	58	0,2,6194	TT,TC,CC		0.0,0.0496,0.0161	probably-damaging	48/1076	4917629	2,12390	2018	4178	6196	SO:0001583	missense	55698			cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917629C>T	AB058752	AB058752	CCDS43544.1	CCDS43544.1	7p22.1	2010-08-27			2010-08-27			ENSG00000157927	ENSG00000157927	ENSG00000157927	ENSG00000157927				22226	22226	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611491	611491						16051602, 17704304	16051602, 17704304	Standard	Standard	NM_018059	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	uc003snj.1	Q96JH8	Q96JH8	OTTHUMG00000151753	OTTHUMG00000151753	ENST00000399583.3:c.142G>A	7.37:g.4917629C>T	ENSP00000382492:p.Ala48Thr		RADIL_ENST00000536091.1_Missense_Mutation_p.A48T	p.A48T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	329	-		Ovarian(82;0.0175)	48		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.142G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273693	0.23221	4.96E-4	0.0	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T	0.23552	3.31;1.9	5.73	-0.827	0.10802	5.73	-0.827	0.10802	.	0.354452	0.29321	N	0.012497	T	0.16171	0.0389	L	0.51422	1.61	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.12993	-1.0526	10	0.36615	T	0.2	-11.0028	1.6686	0.02807	0.2315:0.45:0.1151:0.2033	.	48	Q96JH8	RADIL_HUMAN	T	48;22;48;48	ENSP00000382492:A48T;ENSP00000442533:A48T	ENSP00000320946:A22T	A	-	1	0	0	RADIL	4884155	4884155	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.214000	0.09292	-0.180000	0.10637	-0.291000	0.09656	GCC		0.627	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2		15.474621	4	4	13	13	NM_018059		5	15.474621	15.474621	5	0.5	0	0	0	1	0	5	5	0.5	T	4917629	C	T	4917629	3	4	80	1	0	0	0	0	1	0	0	0	12997	768	27	1	3141	1	RADIL	7	4917629	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	127	4917629	154221034	195	1710											
FBXL18	80028	broad.mit.edu	37	7	5540761	5540761	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:5540761G>A	ENST00000382368.3	-	3	1262	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	380									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCAGGACGCCACCAGAGT	0.687																																						ENST00000382368.3											0			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(1138-1140)gCg>gTg	F-box and leucine-rich repeat protein 18						17	25	22					7																	5540761		2164	4263	6427	SO:0001583	missense	80028						g.chr7:5540761G>A	AK057042	AK057042	CCDS43546.1	CCDS43546.1	7p22.2	2011-06-09			2011-06-09			ENSG00000155034	ENSG00000155034	ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	"F-boxes / Leucine-rich repeats"	21874	21874	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609084	609084								Standard	Standard	NM_024963	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	uc003son.4	Q96ME1	Q96ME1	OTTHUMG00000151832	OTTHUMG00000151832	ENST00000382368.3:c.1139C>T	7.37:g.5540761G>A	ENSP00000371805:p.Ala380Val		FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1262	-		Ovarian(82;0.0607)	380		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1139C>T	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.514|9.514	1.106525|1.106525	0.20632|0.20632	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700|ENST00000458142	T;T|.	0.01005|.	5.45;5.45|.	5.03|5.03	-4.22|-4.22	0.03800|0.03800	5.03|5.03	-4.22|-4.22	0.03800|0.03800	.|.	0.825130|.	0.11372|.	N|.	0.570784|.	T|T	0.09905|0.09905	0.0243|0.0243	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.27191|0.27191	-1.0081|-1.0081	10|5	0.30854|.	T|.	0.27|.	.|.	0.8005|0.8005	0.01074|0.01074	0.3835:0.1244:0.2651:0.227|0.3835:0.1244:0.2651:0.227	.|.	380;380|.	F5H4Z4;Q96ME1-4|.	.;.|.	V|C	380|264	ENSP00000371805:A380V;ENSP00000444797:A380V|.	ENSP00000311990:A380V|.	A|R	-|-	2|1	0|0	0|0	FBXL18|FBXL18	5507287|5507287	5507287|5507287	0.000000|0.000000	0.05858|0.05858	0.117000|0.117000	0.21633|0.21633	0.991000|0.991000	0.79684|0.79684	-0.072000|-0.072000	0.11486|0.11486	-0.613000|-0.613000	0.05694|0.05694	-0.482000|-0.482000	0.04802|0.04802	GCG|CGT		0.687	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1		49.834208	2	2	45	45	NM_024963		18	49.858844	49.858844	16	0.529412	0	0	0	1	0	18	16	0.529412	A	5540761	G	A	5540761	3	1	80	1	0	0	0	0	1	0	0	0	5714	1087	38	1	1029	1	FBXL18	7	5540761	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	623132	5540761	153597902	196	1711											
CYTH3	9265	broad.mit.edu	37	7	6205175	6205175	+	Splice_Site	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:6205175C>T	ENST00000350796.3	-	11	1109		c.e11+1		CYTH3_ENST00000396741.2_Splice_Site|CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3						establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GAAGAGCTTACGGGTTTCCGG	0.622																																						ENST00000350796.3											1	Unknown(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.e11+1	cytohesin 3						80	81	81					7																	6205175		2203	4300	6503	SO:0001630	splice_region_variant	9265			regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6205175C>T	AJ223957	AJ223957	CCDS5346.1	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	9504	9504	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605081	605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	9072969	Standard	Standard	NM_004227	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	uc003spt.3	O43739	O43739	OTTHUMG00000023440	OTTHUMG00000023440	ENST00000350796.3:c.972+1G>A	7.37:g.6205175C>T			CYTH3_ENST00000396741.2_Splice_Site		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			11	1109	-					A4D2N8	Splice_Site	SNP	ENST00000350796.3	37		CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874511	0.91664	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2844	0.90110	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CYTH3	6171700	6171700	1.000000	0.71417	0.846000	0.33378	0.952000	0.60782	7.725000	0.84808	2.407000	0.81776	0.561000	0.74099	.		0.622	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2		82.348250	-8	-8	92	92	NM_004227	Intron	26	82.383658	82.383658	29	0.472727	0	0	0	1	0	26	29	0.472727	T	6205175	C	T	6205175	5	4	80	1	0	0	0	0	0	0	1	0	4205	550	19	1	238	1	CYTH3	7	6205175	Splice_Site	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	664414	6205175	152933488	197	1712											
BZW2	28969	broad.mit.edu	37	7	16720938	16720938	+	Missense_Mutation	SNP	C	C	T	rs371407289		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:16720938C>T	ENST00000433922.2	+	4	426	c.248C>T	c.(247-249)aCg>aTg	p.T83M	BZW2_ENST00000258761.3_Missense_Mutation_p.T83M|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000405202.1_Missense_Mutation_p.T7M|BZW2_ENST00000452975.2_Missense_Mutation_p.T83M	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	83					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CCTGGAGGAACGCGCATAGAT	0.403																																						ENST00000433922.2											0			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(247-249)aCg>aTg	basic leucine zipper and W2 domains 2	C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	124	110	115		248,248	5.9	1	7		115	0,8600		0,0,4300	no	missense,missense	BZW2	NM_001159767.1,NM_014038.2	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	83/420,83/420	16720938	1,13005	2203	4300	6503	SO:0001583	missense	28969			cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16720938C>T	AF083246	AF083246	CCDS5362.1	CCDS5362.1	7p21.3	2008-07-18			2008-07-18			ENSG00000136261	ENSG00000136261	ENSG00000136261	ENSG00000136261				18808	18808	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11042152	11042152	Standard	Standard	NM_001159767	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	uc003stj.2	Q9Y6E2	Q9Y6E2	OTTHUMG00000130755	OTTHUMG00000130755	ENST00000433922.2:c.248C>T	7.37:g.16720938C>T	ENSP00000397249:p.Thr83Met		BZW2_ENST00000258761.3_Missense_Mutation_p.T83M|BZW2_ENST00000452975.2_Missense_Mutation_p.T83M|BZW2_ENST00000405202.1_Missense_Mutation_p.T7M|BZW2_ENST00000432311.1_3'UTR	p.T83M	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	4	426	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		83		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	c.248C>T	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371822	0.82573	2.27E-4	0.0	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.058233	0.64402	D	0.000003	T	0.64227	0.2579	M	0.75777	2.31	0.58432	D	0.999999	D;D;D	0.89917	0.993;1.0;0.993	P;D;P	0.69307	0.568;0.963;0.568	T	0.65162	-0.6235	10	0.59425	D	0.04	-6.3474	15.7199	0.77700	0.0:0.8641:0.1359:0.0	.	83;83;83	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	M	83;83;83;83;7;83;83;83	ENSP00000403481:T83M;ENSP00000258761:T83M;ENSP00000397249:T83M;ENSP00000411715:T83M;ENSP00000385577:T7M;ENSP00000412750:T83M;ENSP00000415924:T83M;ENSP00000416531:T83M	ENSP00000258761:T83M	T	+	2	0	0	BZW2	16687463	16687463	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.947000	0.70242	2.793000	0.96121	0.563000	0.77884	ACG		0.403	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2		9.488852	-4	-4	24	24	NM_014038		4	11.162637	11.162637	16	0.2	0	0	0	1	0	4	16	0.2	T	16720938	C	T	16720938	3	4	80	1	0	0	0	0	1	0	0	0	1579	536	19	1	258	1	BZW2	7	16720938	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10515763	16720938	142417725	198	1713											
TNS3	64759	broad.mit.edu	37	7	47333375	47333375	+	Missense_Mutation	SNP	G	G	A	rs375611617		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:47333375G>A	ENST00000398879.1	-	25	4094	c.3728C>T	c.(3727-3729)cCg>cTg	p.P1243L	TNS3_ENST00000311160.9_Missense_Mutation_p.P1243L|TNS3_ENST00000355730.3_Missense_Mutation_p.P1003L			Q68CZ2	TENS3_HUMAN	tensin 3	1243	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.P1243Q(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACTCCCTTCGGGGTACACTC	0.458																																						ENST00000398879.1											1	Substitution - Missense(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(3727-3729)cCg>cTg	tensin 3	G	LEU/PRO	1,3845		0,1,1922	104	103	103		3728	5.1	1	7		103	0,8252		0,0,4126	no	missense	TNS3	NM_022748.11	98	0,1,6048	AA,AG,GG		0.0,0.026,0.0083	probably-damaging	1243/1446	47333375	1,12097	1923	4126	6049	SO:0001583	missense	64759				focal adhesion	protein binding	g.chr7:47333375G>A	AF378756	AF378756	CCDS5506.2	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	"SH2 domain containing"	21616	21616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	"tumor endothelial marker 6"	606825	606825	"tensin-like SH2 domain-containing 1"	TENS1	"tensin-like SH2 domain-containing 1"	TENS1		11559528	11559528	Standard	Standard	NM_022748	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	uc003tnw.3	Q68CZ2	Q68CZ2	OTTHUMG00000074075	OTTHUMG00000074075	ENST00000398879.1:c.3728C>T	7.37:g.47333375G>A	ENSP00000381854:p.Pro1243Leu		TNS3_ENST00000311160.9_Missense_Mutation_p.P1243L|TNS3_ENST00000355730.3_Missense_Mutation_p.P1003L	p.P1243L			Q68CZ2	TENS3_HUMAN			25	4094	-			1243	SH2.	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.3728C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218665	0.79464	2.6E-4	0.0	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	D;D;D	0.88354	-2.37;-2.37;-2.37	5.05	5.05	0.67936	5.05	5.05	0.67936	SH2 motif (4);	0.396370	0.27572	N	0.018761	D	0.91710	0.7379	M	0.74258	2.255	0.80722	D	1	D	0.55605	0.972	P	0.55055	0.767	D	0.92167	0.5740	10	0.72032	D	0.01	-29.9744	11.3714	0.49702	0.0:0.0:0.8189:0.181	.	1243	Q68CZ2	TENS3_HUMAN	L	1243;1243;1003;699	ENSP00000312143:P1243L;ENSP00000381854:P1243L;ENSP00000347968:P1003L	ENSP00000312143:P1243L	P	-	2	0	0	TNS3	47299900	47299900	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	3.405000	0.52630	2.500000	0.84329	0.655000	0.94253	CCG		0.458	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		74.723037	-1	-1	72	72	NM_022748		23	74.762842	74.762842	26	0.469388	0	0	0	1	0	23	26	0.469388	A	47333375	G	A	47333375	3	1	80	1	0	0	0	0	1	0	0	0	16341	1116	39	1	637	1	TNS3	7	47333375	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	30612437	47333375	111805288	199	1714											
TNS3	64759	broad.mit.edu	37	7	47408251	47408251	+	Silent	SNP	C	C	T	rs374818505		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:47408251C>T	ENST00000398879.1	-	17	2358	c.1992G>A	c.(1990-1992)gcG>gcA	p.A664A	TNS3_ENST00000311160.9_Silent_p.A664A|TNS3_ENST00000355730.3_Silent_p.A424A			Q68CZ2	TENS3_HUMAN	tensin 3	664					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGGGTTTGAACGCTTTGCTGG	0.647																																						ENST00000398879.1											0			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1990-1992)gcG>gcA	tensin 3	C		1,4153		0,1,2076	112	129	123		1992	-10.9	0	7		123	0,8414		0,0,4207	no	coding-synonymous	TNS3	NM_022748.11		0,1,6283	TT,TC,CC		0.0,0.0241,0.0080		664/1446	47408251	1,12567	2077	4207	6284	SO:0001819	synonymous_variant	64759				focal adhesion	protein binding	g.chr7:47408251C>T	AF378756	AF378756	CCDS5506.2	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	"SH2 domain containing"	21616	21616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	"tumor endothelial marker 6"	606825	606825	"tensin-like SH2 domain-containing 1"	TENS1	"tensin-like SH2 domain-containing 1"	TENS1		11559528	11559528	Standard	Standard	NM_022748	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	uc003tnw.3	Q68CZ2	Q68CZ2	OTTHUMG00000074075	OTTHUMG00000074075	ENST00000398879.1:c.1992G>A	7.37:g.47408251C>T			TNS3_ENST00000311160.9_Silent_p.A664A|TNS3_ENST00000355730.3_Silent_p.A424A	p.A664A			Q68CZ2	TENS3_HUMAN			17	2358	-			664		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.1992G>A	CCDS5506.2																																																																																									0.647	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		55.166091	-34	-34	180	180	NM_022748		26	69.622395	69.622395	121	0.176871	0	0	0	1	0	26	121	0.176871	T	47408251	C	T	47408251	2	4	80	1	0	0	0	0	0	0	0	1	16341	523	19	1		1	TNS3	7	47408251	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	74876	47408251	111730412	200	1715											
TNS3	64759	broad.mit.edu	37	7	47408605	47408605	+	Silent	SNP	G	G	A	rs375420968		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:47408605G>A	ENST00000398879.1	-	17	2004	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	TNS3_ENST00000311160.9_Silent_p.D546D|TNS3_ENST00000355730.3_Silent_p.D306D			Q68CZ2	TENS3_HUMAN	tensin 3	546					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CATAGGGGCCGTCCATGCCAA	0.617													G|||	1	0.000199681	0	0	5008	,	,		18250	0		0.001	False		,,,				2504	0					ENST00000398879.1											0			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1636-1638)gaC>gaT	tensin 3	G		1,4075		0,1,2037	42	46	44		1638	-4.3	0	7		44	1,8381		0,1,4190	no	coding-synonymous	TNS3	NM_022748.11		0,2,6227	AA,AG,GG		0.0119,0.0245,0.0161		546/1446	47408605	2,12456	2038	4191	6229	SO:0001819	synonymous_variant	64759				focal adhesion	protein binding	g.chr7:47408605G>A	AF378756	AF378756	CCDS5506.2	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	"SH2 domain containing"	21616	21616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	"tumor endothelial marker 6"	606825	606825	"tensin-like SH2 domain-containing 1"	TENS1	"tensin-like SH2 domain-containing 1"	TENS1		11559528	11559528	Standard	Standard	NM_022748	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	uc003tnw.3	Q68CZ2	Q68CZ2	OTTHUMG00000074075	OTTHUMG00000074075	ENST00000398879.1:c.1638C>T	7.37:g.47408605G>A			TNS3_ENST00000311160.9_Silent_p.D546D|TNS3_ENST00000355730.3_Silent_p.D306D	p.D546D			Q68CZ2	TENS3_HUMAN			17	2004	-			546		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.1638C>T	CCDS5506.2																																																																																									0.617	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		31.981881	-6	-6	68	68	NM_022748		12	33.869427	33.869427	31	0.27907	0	0	0	1	0	12	31	0.27907	A	47408605	G	A	47408605	2	1	80	1	0	0	0	0	0	0	0	1	16341	1136	40	1		1	TNS3	7	47408605	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	354	47408605	111730058	201	1716											
TBL2	26608	broad.mit.edu	37	7	72988286	72988286	+	Missense_Mutation	SNP	C	C	T	rs373074498		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:72988286C>T	ENST00000305632.5	-	3	669	c.428G>A	c.(427-429)cGc>cAc	p.R143H	TBL2_ENST00000452475.1_Missense_Mutation_p.R143H|TBL2_ENST00000432538.1_Missense_Mutation_p.R107H|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	143							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGGCTGAAGCGCACCAGGGT	0.607																																						ENST00000305632.5											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(427-429)cGc>cAc	transducin (beta)-like 2	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	103	81	88		428	5.3	1	7		88	0,8600		0,0,4300	no	missense	TBL2	NM_012453.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	143/448	72988286	2,13004	2203	4300	6503	SO:0001583	missense	26608						g.chr7:72988286C>T	AF056183	AF056183	CCDS5551.1	CCDS5551.1	7q11.23	2013-01-10			2013-01-10			ENSG00000106638	ENSG00000106638	ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	"WD repeat domain containing"	11586	11586	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	"Williams-Beuren syndrome chromosome region 13"	605842	605842						9860302, 10575226	9860302, 10575226	Standard	Standard	XM_006715923	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	uc003tyh.3	Q9Y4P3	Q9Y4P3	OTTHUMG00000023427	OTTHUMG00000023427	ENST00000305632.5:c.428G>A	7.37:g.72988286C>T	ENSP00000307260:p.Arg143His		TBL2_ENST00000452475.1_Missense_Mutation_p.R143H|TBL2_ENST00000432538.1_Missense_Mutation_p.R107H|TBL2_ENST00000459913.1_5'UTR	p.R143H	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			3	669	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	143		Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.428G>A	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011512	0.93346	4.54E-4	0.0	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.30182	1.54;1.54;1.54	5.3	5.3	0.74995	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67382	0.951;0.951	T	0.54009	-0.8357	10	0.49607	T	0.09	-22.0223	16.4333	0.83861	0.0:1.0:0.0:0.0	.	107;143	E9PF19;Q9Y4P3	.;TBL2_HUMAN	H	143;143;107;143	ENSP00000307260:R143H;ENSP00000413979:R107H;ENSP00000407371:R143H	ENSP00000307260:R143H	R	-	2	0	0	TBL2	72626222	72626222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.716000	0.84723	2.491000	0.84063	0.561000	0.74099	CGC		0.607	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3		91.442470	9	9	96	96	NM_012453		30	91.601573	91.601573	37	0.447761	0	0	0	1	0	30	37	0.447761	T	72988286	C	T	72988286	3	4	80	1	0	0	0	0	1	0	0	0	15639	768	27	1	935	1	TBL2	7	72988286	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	25579681	72988286	86150377	202	1717											
CACNA2D1	781	broad.mit.edu	37	7	81635088	81635088	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:81635088C>T	ENST00000356253.5	-	17	1763	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R503H			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	503	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R503L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TACTGTAAAACGTGGTGTCAG	0.358																																						ENST00000356860.3											1	Substitution - Missense(1)	kidney(1)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1507-1509)cGt>cAt	calcium channel, voltage-dependent, alpha 2/delta subunit 1						126	119	121					7																	81635088		2203	4299	6502	SO:0001583	missense	781				voltage-gated calcium channel complex	metal ion binding	g.chr7:81635088C>T	M76559	M76559	CCDS5598.1	CCDS5598.1	7q21-q22	2014-09-17			2014-09-17			ENSG00000153956	ENSG00000153956	ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	"Calcium channel subunits"	1399	1399	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114204	114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	8188232	Standard	Standard	XM_005250570	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	uc003uhr.1	P54289	P54289	OTTHUMG00000023622	OTTHUMG00000023622	ENST00000356253.5:c.1508G>A	7.37:g.81635088C>T	ENSP00000348589:p.Arg503His		CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R503H	p.R503H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			17	1846	-			503	Cache.	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1508G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.959816|3.959816	0.74016|0.74016	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253|ENST00000443883	T;T|.	0.07327|.	3.22;3.2|.	5.38|5.38	5.38|5.38	0.77491|0.77491	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69940|0.69940	0.3167|0.3167	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	B|.	0.19817|.	0.039|.	B|.	0.17979|.	0.02|.	T|T	0.66337|0.66337	-0.5949|-0.5949	10|5	0.54805|.	T|.	0.06|.	-11.1241|-11.1241	18.7374|18.7374	0.91761|0.91761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	503|.	P54289-2|.	.|.	H|I	503|7	ENSP00000349320:R503H;ENSP00000348589:R503H|.	ENSP00000284088:R503H|.	R|V	-|-	2|1	0|0	0|0	CACNA2D1|CACNA2D1	81473024|81473024	81473024|81473024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.461000|7.461000	0.80834|0.80834	2.523000|2.523000	0.85059|0.85059	0.591000|0.591000	0.81541|0.81541	CGT|GTT		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			65.974007	4	4	75	75			21	65.974007	65.974007	21	0.5	0	0	0	1	0	21	21	0.5	T	81635088	C	T	81635088	3	4	80	1	0	0	0	0	1	0	0	0	2548	536	19	1	1859	1	CACNA2D1	7	81635088	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8646802	81635088	77503575	203	1718											
KIAA1324L	222223	broad.mit.edu	37	7	86526871	86526871	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:86526871G>A	ENST00000450689.2	-	19	2821	c.2636C>T	c.(2635-2637)aCg>aTg	p.T879M	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T639M|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T808M|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T712M	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	879						integral component of membrane (GO:0016021)		p.T639M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GTCATGCTCCGTACACAGAGG	0.463																																						ENST00000450689.2											1	Substitution - Missense(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2635-2637)aCg>aTg	KIAA1324-like						100	90	93					7																	86526871		2203	4300	6503	SO:0001583	missense	222223				integral to membrane		g.chr7:86526871G>A	AK055902	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			2008-09-18			ENSG00000164659	ENSG00000164659	ENSG00000164659	ENSG00000164659				21945	21945	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"EIG121-like"	"EIG121-like"	614048	614048								Standard	Standard	NM_001142749	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	uc011kha.2	A8MWY0	A8MWY0	OTTHUMG00000153995	OTTHUMG00000153995	ENST00000450689.2:c.2636C>T	7.37:g.86526871G>A	ENSP00000413445:p.Thr879Met		KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T712M|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T808M|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T639M	p.T879M	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			19	2821	-	Esophageal squamous(14;0.0058)		879		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2636C>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182074	0.78677	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.19394	2.42;2.16;2.15;2.16	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.104529	0.64402	D	0.000004	T	0.37210	0.0995	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.66497	0.944;0.855;0.855	T	0.08932	-1.0698	10	0.66056	D	0.02	.	18.1012	0.89505	0.0:0.0:1.0:0.0	.	879;639;712	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	M	879;639;808;712	ENSP00000413445:T879M;ENSP00000297222:T639M;ENSP00000397377:T808M;ENSP00000402390:T712M	ENSP00000297222:T639M	T	-	2	0	0	KIAA1324L	86364807	86364807	1.000000	0.71417	0.972000	0.41901	0.987000	0.75469	5.667000	0.68067	2.524000	0.85096	0.650000	0.86243	ACG		0.463	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3		27.301989	13	13	53	53	NM_152748		11	30.16031	30.16031	35	0.23913	0	0	0	1	0	11	35	0.23913	A	86526871	G	A	86526871	3	1	80	1	0	0	0	0	1	0	0	0	8224	1145	40	1	469	1	KIAA1324L	7	86526871	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4891783	86526871	72611792	204	1719											
PTCD1	26024	broad.mit.edu	37	7	99022532	99022532	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:99022532C>T	ENST00000292478.4	-	6	1873	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.A590A|PTCD1_ENST00000555673.1_Silent_p.A590A	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	541					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	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)		STAD - Stomach adenocarcinoma(171;0.215)			CCGGCAACAGCGCCTTGGCCC	0.612																																						ENST00000292478.4											0			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(1621-1623)gcG>gcA	pentatricopeptide repeat domain 1						73	69	70					7																	99022532		2203	4300	6503	SO:0001819	synonymous_variant	26024						g.chr7:99022532C>T	AB014532		CCDS34691.1	CCDS56496.1	7q22.1	2006-01-27			2011-02-21				ENSG00000106246	ENSG00000248919	ENSG00000248919				22198	38844	protein-coding gene	gene with protein product	other	readthrough			614774									Standard	Standard	NM_015545	NM_001198879		Approved	KIAA0632		uc011kiw.2	O75127			OTTHUMG00000160779	ENST00000292478.4:c.1623G>A	7.37:g.99022532C>T			PTCD1_ENST00000555673.1_Silent_p.A590A|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.A590A	p.A541A	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		6	1873	-	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)				Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	37	c.1623G>A	CCDS34691.1																																																																																									0.612	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1		17.914275	-18	-18	37	37	NM_015545		7	19.163303	19.163303	19	0.269231	0	0	0	1	0	7	19	0.269231	T	99022532	C	T	99022532	2	4	80	1	0	0	0	0	0	0	0	1	12727	755	27	1		1	PTCD1	7	99022532	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12495661	99022532	60116131	205	1720											
PVRIG	79037	broad.mit.edu	37	7	99817744	99817744	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:99817744G>A	ENST00000317271.2	+	3	489	c.126G>A	c.(124-126)ccG>ccA	p.P42P	AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	42						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGGGACCCCGGAGGTGTGGG	0.637																																						ENST00000317271.2											0			breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11						c.(124-126)ccG>ccA	poliovirus receptor related immunoglobulin domain containing						24	27	26					7																	99817744		2203	4300	6503	SO:0001819	synonymous_variant	79037				integral to membrane		g.chr7:99817744G>A	BC001129	BC001129	CCDS5690.1	CCDS5690.1	7q22.1	2013-06-26			2013-06-26			ENSG00000213413	ENSG00000213413	ENSG00000213413	ENSG00000213413				32190	32190	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										16926269	16926269	Standard	Standard	NM_024070	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	uc003uuf.1	Q6DKI7	Q6DKI7	OTTHUMG00000156798	OTTHUMG00000156798	ENST00000317271.2:c.126G>A	7.37:g.99817744G>A			GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	p.P42P	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN			3	489	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		42		D6W5U9|Q9BVK3	Silent	SNP	ENST00000317271.2	37	c.126G>A	CCDS5690.1																																																																																									0.637	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2		16.476832	-8	-8	8	8	NM_024070		5	16.586576	16.586576	3	0.625	0	0	0	1	0	5	3	0.625	A	99817744	G	A	99817744	2	1	80	1	0	0	0	0	0	0	0	1	12838	1103	39	1		1	PVRIG	7	99817744	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	795212	99817744	59320919	206	1721											
TRIM56	81844	broad.mit.edu	37	7	100731056	100731056	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:100731056G>A	ENST00000306085.6	+	3	760	c.463G>A	c.(463-465)Ggg>Agg	p.G155R		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	155					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAGGGCCGGGTGGTATGA	0.701																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6											0			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(463-465)Ggg>Agg	tripartite motif containing 56						11	15	14					7																	100731056		1999	4143	6142	SO:0001583	missense	81844			defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100731056G>A	BK000511	BK000511	CCDS43625.1	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871	ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	19028	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"tripartite motif-containing 56"		"tripartite motif-containing 56"					Standard	Standard	NM_030961	NM_030961		Approved	RNF109	uc003uxq.3	uc003uxq.3	Q9BRZ2	Q9BRZ2	OTTHUMG00000157032	OTTHUMG00000157032	ENST00000306085.6:c.463G>A	7.37:g.100731056G>A	ENSP00000305161:p.Gly155Arg			p.G155R	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	760	+	Lung NSC(181;0.136)|all_lung(186;0.182)		155		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.463G>A	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364795	0.41902	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.47528	0.84;1.26	3.99	3.99	0.46301	3.99	3.99	0.46301	.	0.153396	0.30742	N	0.008966	T	0.56485	0.1988	L	0.54965	1.715	0.25879	N	0.983618	D;D	0.76494	0.999;0.999	P;D	0.64042	0.902;0.921	T	0.45527	-0.9255	10	0.20046	T	0.44	.	11.893	0.52641	0.0:0.0:1.0:0.0	.	155;155	C9JI91;Q9BRZ2	.;TRI56_HUMAN	R	155	ENSP00000305161:G155R;ENSP00000404186:G155R	ENSP00000305161:G155R	G	+	1	0	0	TRIM56	100517776	100517776	1.000000	0.71417	0.473000	0.27253	0.510000	0.34073	3.342000	0.52159	2.501000	0.84356	0.655000	0.94253	GGG		0.701	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1		14.470644	-3	-3	19	19	NM_030961		5	14.97058	14.97058	11	0.3125	0	0	0	1	0	5	11	0.3125	A	100731056	G	A	100731056	3	1	80	1	0	0	0	0	1	0	0	0	16527	1116	39	1	465	1	TRIM56	7	100731056	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	913312	100731056	58407607	207	1722											
MYL10	93408	broad.mit.edu	37	7	101259574	101259574	+	Silent	SNP	C	C	T	rs567400190		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:101259574C>T	ENST00000223167.4	-	6	636	c.459G>A	c.(457-459)acG>acA	p.T153T		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	153						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCTCTGGGTCCGTGCCTATAA	0.592													C|||	1	0.000199681	0	0	5008	,	,		18592	0.001		0	False		,,,				2504	0				Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4											0			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(457-459)acG>acA	myosin, light chain 10, regulatory						101	80	87					7																	101259574		2203	4300	6503	SO:0001819	synonymous_variant	93408				mitochondrion	calcium ion binding	g.chr7:101259574C>T	BC002778	BC002778	CCDS34713.1	CCDS34713.1	7q22.1	2013-01-10			2013-01-10			ENSG00000106436	ENSG00000106436	ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	"Myosins / Light chain", "EF-hand domain containing"	29825	29825	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										1628631	1628631	Standard	Standard	NM_138403	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	uc003uyr.3	Q9BUA6	Q9BUA6	OTTHUMG00000157137	OTTHUMG00000157137	ENST00000223167.4:c.459G>A	7.37:g.101259574C>T				p.T153T	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			6	636	-			153			Silent	SNP	ENST00000223167.4	37	c.459G>A	CCDS34713.1																																																																																									0.592	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1		9.891388	18	18	37	37	NM_138403		4	10.980863	10.980863	13	0.235294	0	0	0	1	0	4	13	0.235294	T	101259574	C	T	101259574	2	4	80	1	0	0	0	0	0	0	0	1	10044	639	23	1		1	MYL10	7	101259574	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	528518	101259574	57879089	208	1723											
FOXP2	93986	broad.mit.edu	37	7	114304409	114304409	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:114304409G>A	ENST00000393494.2	+	16	2200	c.1921G>A	c.(1921-1923)Gtc>Atc	p.V641I	FOXP2_ENST00000350908.4_Missense_Mutation_p.V641I|FOXP2_ENST00000393489.3_Missense_Mutation_p.V549I|FOXP2_ENST00000393491.3_Missense_Mutation_p.V456I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.V666I|FOXP2_ENST00000403559.4_Missense_Mutation_p.V658I|FOXP2_ENST00000393498.2_Missense_Mutation_p.V620I			O15409	FOXP2_HUMAN	forkhead box P2	641					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACTGCAGGCCGTCCACGAAGA	0.483																																						ENST00000408937.3											0			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1996-1998)Gtc>Atc	forkhead box P2						91	82	85					7																	114304409		2203	4300	6503	SO:0001583	missense	93986			camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114304409G>A	U80741	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			2008-07-18			ENSG00000128573	ENSG00000128573	ENSG00000128573	ENSG00000128573		"Forkhead boxes"	"Forkhead boxes"	13875	13875	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317	605317		TNRC10, SPCH1		TNRC10, SPCH1		11586359, 9225980	11586359, 9225980	Standard	Standard	NM_014491	NM_014491		Approved	CAGH44	uc003vgz.3	uc003vgz.3	O15409	O15409	OTTHUMG00000023131	OTTHUMG00000023131	ENST00000393494.2:c.1921G>A	7.37:g.114304409G>A	ENSP00000377132:p.Val641Ile		FOXP2_ENST00000350908.4_Missense_Mutation_p.V641I|FOXP2_ENST00000393489.3_Missense_Mutation_p.V549I|FOXP2_ENST00000403559.4_Missense_Mutation_p.V658I|FOXP2_ENST00000393491.3_Missense_Mutation_p.V456I|FOXP2_ENST00000393498.2_Missense_Mutation_p.V620I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393494.2_Missense_Mutation_p.V641I	p.V666I	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN			17	2370	+			641		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1996G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	7.019	0.558337	0.13436	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91180	-2.52;-2.53;-2.53;-2.52;-2.59;-2.8	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.180845	0.48286	D	0.000188	T	0.77844	0.4191	N	0.01874	-0.695	0.80722	D	1	B;B;B;B;B	0.25235	0.001;0.002;0.121;0.001;0.004	B;B;B;B;B	0.22152	0.001;0.001;0.038;0.001;0.002	T	0.74990	-0.3475	10	0.11794	T	0.64	.	19.5416	0.95277	0.0:0.0:1.0:0.0	.	640;658;456;641;666	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	I	641;666;658;641;618;549;456	ENSP00000377132:V641I;ENSP00000386200:V666I;ENSP00000385069:V658I;ENSP00000265436:V641I;ENSP00000377129:V549I;ENSP00000377130:V456I	ENSP00000265436:V641I	V	+	1	0	0	FOXP2	114091645	114091645	1.000000	0.71417	0.960000	0.40013	0.950000	0.60333	3.026000	0.49689	2.614000	0.88457	0.655000	0.94253	GTC		0.483	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		62.997483	-15	-15	45	45	NM_014491		20	63.018194	63.018194	22	0.47619	0	0	0	1	0	20	22	0.47619	A	114304409	G	A	114304409	3	1	80	1	0	0	0	0	1	0	0	0	6027	1145	40	1	2146	1	FOXP2	7	114304409	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	13044835	114304409	44834254	209	1724											
WNT2	7472	broad.mit.edu	37	7	116937892	116937892	+	Silent	SNP	G	G	A	rs138318436	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:116937892G>A	ENST00000265441.3	-	4	926	c.627C>T	c.(625-627)caC>caT	p.H209H		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	209					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CGCTCACCCCGTGGCACTTGC	0.547													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19466	0		0	False		,,,				2504	0					ENST00000265441.3											0			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(625-627)caC>caT	wingless-type MMTV integration site family member 2	G		6,4400	11.4+/-27.6	0,6,2197	102	97	98		627	-7.1	0.4	7	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	WNT2	NM_003391.2		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		209/361	116937892	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	7472			atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116937892G>A	X07876	X07876	CCDS5771.1	CCDS5771.1	7q31	2013-02-28			2013-02-28			ENSG00000105989	ENSG00000105989	ENSG00000105989	ENSG00000105989		"Wingless-type MMTV integration sites", "Endogenous ligands"	"Wingless-type MMTV integration sites", "Endogenous ligands"	12780	12780	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"secreted growth factor"	"secreted growth factor"	147870	147870		INT1L1		INT1L1		2971536	2971536	Standard	Standard	NM_003391	NM_003391		Approved	IRP	uc003viz.3	uc003viz.3	P09544	P09544	OTTHUMG00000023428	OTTHUMG00000023428	ENST00000265441.3:c.627C>T	7.37:g.116937892G>A				p.H209H	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	4	926	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		209		A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	c.627C>T	CCDS5771.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	12.35	1.913113	0.33815	0.001362	0.0	ENSG00000105989	ENST00000491214	T	0.64438	-0.1	5.58	-7.11	0.01542	5.58	-7.11	0.01542	.	.	.	.	.	T	0.71953	0.3401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79172	-0.1913	6	0.87932	D	0	.	17.7651	0.88475	0.7061:0.0:0.2939:0.0	.	.	.	.	W	117	ENSP00000419466:R117W	ENSP00000419466:R117W	R	-	1	2	2	WNT2	116725128	116725128	0.216000	0.23585	0.403000	0.26384	0.476000	0.33039	-0.256000	0.08757	-1.680000	0.01450	-1.134000	0.01955	CGG		0.547	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3		17.669577	-3	-3	131	131	NM_003391		11	28.076733	28.076733	70	0.135802	0	0	0	1	0	11	70	0.135802	A	116937892	G	A	116937892	2	1	80	1	0	0	0	0	0	0	0	1	17383	1136	40	1		1	WNT2	7	116937892	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2633483	116937892	42200771	210	1725											
CTTNBP2	83992	broad.mit.edu	37	7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T	rs35288952|rs200782612		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:117375046C>T	ENST00000160373.3	-	16	3888	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1266					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCACCCAGCGGAAATGCTG	0.532																																						ENST00000160373.3											0			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3796-3798)cGc>cAc	cortactin binding protein 2						69	72	71					7																	117375046		2203	4300	6503	SO:0001583	missense	83992						g.chr7:117375046C>T			CCDS5774.1	CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	15679	15679	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609772	609772	"cortactin binding protein 2"	CORTBP2, C7orf8	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	11707066	Standard	Standard	XM_005250635	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	uc003vjf.3	Q8WZ74	Q8WZ74	OTTHUMG00000022880	OTTHUMG00000022880	ENST00000160373.3:c.3797G>A	7.37:g.117375046C>T	ENSP00000160373:p.Arg1266His			p.R1266H	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	3888	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1266		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3797G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608420	0.87258	.	.	ENSG00000077063	ENST00000160373	T	0.77358	-1.09	5.38	4.5	0.54988	5.38	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	M	0.87547	2.89	0.58432	D	0.999998	D	0.89917	1.0	D	0.69479	0.964	D	0.88751	0.3250	10	0.87932	D	0	-4.1387	10.1297	0.42672	0.1363:0.7925:0.0:0.0712	.	1266	Q8WZ74	CTTB2_HUMAN	H	1266	ENSP00000160373:R1266H	ENSP00000160373:R1266H	R	-	2	0	0	CTTNBP2	117162282	117162282	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.438000	0.66550	1.390000	0.46547	0.655000	0.94253	CGC		0.532	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4		19.791701	-2	-2	37	37	NM_033427		8	22.149898	22.149898	27	0.228571	0	0	0	1	0	8	27	0.228571	T	117375046	C	T	117375046	3	4	80	1	0	0	0	0	1	0	0	0	4045	768	27	1	1226	1	CTTNBP2	7	117375046	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	437154	117375046	41763617	211	1726											
SLC13A1	6561	broad.mit.edu	37	7	122787322	122787322	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:122787322C>T	ENST00000194130.2	-	7	742	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	235					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTACGTGTCACGTGGCCCTTC	0.418																																						ENST00000194130.2											0			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(703-705)Gtg>Atg	solute carrier family 13 (sodium/sulfate symporter), member 1						234	179	197					7																	122787322		2203	4300	6503	SO:0001583	missense	6561				integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122787322C>T			CCDS5786.1	CCDS5786.1	7q31.32	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800	ENSG00000081800	ENSG00000081800		"Solute carriers"	"Solute carriers"	10916	10916	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606193	606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"		"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	11161786	Standard	Standard	NM_022444	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	uc003vkm.3	Q9BZW2	Q9BZW2	OTTHUMG00000157087	OTTHUMG00000157087	ENST00000194130.2:c.703G>A	7.37:g.122787322C>T	ENSP00000194130:p.Val235Met		SLC13A1_ENST00000539873.1_3'UTR	p.V235M	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			7	742	-			235		Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.703G>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	0.150	-1.092159	0.01858	.	.	ENSG00000081800	ENST00000194130	T	0.03386	3.95	5.0	2.45	0.29901	5.0	2.45	0.29901	.	0.219788	0.52532	N	0.000078	T	0.00875	0.0029	N	0.00119	-2.075	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.51060	-0.8753	10	0.42905	T	0.14	-27.0989	6.0605	0.19835	0.0:0.0891:0.1627:0.7482	.	235;235	A4D0X1;Q9BZW2	.;S13A1_HUMAN	M	235	ENSP00000194130:V235M	ENSP00000194130:V235M	V	-	1	0	0	SLC13A1	122574558	122574558	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	3.182000	0.50910	0.755000	0.32990	-0.414000	0.06135	GTG		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1		18.744524	-2	-2	64	64	NM_022444		9	23.774717	23.774717	42	0.176471	0	0	0	1	0	9	42	0.176471	T	122787322	C	T	122787322	3	4	80	1	0	0	0	0	1	0	0	0	14391	536	19	1	1120	1	SLC13A1	7	122787322	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5412276	122787322	36351341	212	1727											
MEST	4232	broad.mit.edu	37	7	130138026	130138026	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:130138026C>T	ENST00000223215.4	+	5	607	c.386C>T	c.(385-387)gCg>gTg	p.A129V	MEST_ENST00000437945.1_Missense_Mutation_p.A129V|MEST_ENST00000462132.1_3'UTR|MIR335_ENST00000362173.1_RNA|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000416162.2_Missense_Mutation_p.A120V|MEST_ENST00000341441.5_Missense_Mutation_p.A120V|MEST_ENST00000378576.4_Missense_Mutation_p.A120V|MEST_ENST00000393187.1_Missense_Mutation_p.A120V	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	129					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					ATCGTGGAAGCGCTTTTGCGG	0.502																																					Colon(126;2182 2305 6517 35181)	ENST00000223215.4											0			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12						c.(385-387)gCg>gTg	mesoderm specific transcript						83	82	82					7																	130138026		2203	4300	6503	SO:0001583	missense	4232			mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130138026C>T			CCDS5822.1, CCDS5823.1, CCDS59081.1	CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484	ENSG00000106484	ENSG00000106484				7028	7028	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Paternally-expressed gene 1"	"Paternally-expressed gene 1"	601029	601029	"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"		"mesoderm specific transcript (mouse) homolog", "mesoderm specific transcript homolog (mouse)"			8884280	8884280	Standard	Standard	NM_002402	NM_002402		Approved	PEG1	uc003vqg.3	uc003vqg.3	Q5EB52	Q5EB52	OTTHUMG00000156661	OTTHUMG00000156661	ENST00000223215.4:c.386C>T	7.37:g.130138026C>T	ENSP00000223215:p.Ala129Val		MEST_ENST00000462132.1_3'UTR|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.A120V|MEST_ENST00000437945.1_Missense_Mutation_p.A129V|MEST_ENST00000378576.4_Missense_Mutation_p.A120V|MEST_ENST00000416162.2_Missense_Mutation_p.A120V|MEST_ENST00000341441.5_Missense_Mutation_p.A120V	p.A129V	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN			5	607	+	Melanoma(18;0.0435)		129		B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	c.386C>T	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870403	0.33069	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000433159;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945;ENST00000437637;ENST00000458161	T;T;T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.33	3.41	0.39046	5.33	3.41	0.39046	.	0.421745	0.26407	N	0.024542	T	0.63402	0.2508	L	0.55017	1.72	0.39887	D	0.973712	B;B;B;B	0.25351	0.124;0.113;0.016;0.008	B;B;B;B	0.24269	0.052;0.019;0.008;0.004	T	0.65076	-0.6256	10	0.52906	T	0.07	-5.5175	9.7535	0.40490	0.0:0.7105:0.2066:0.0829	.	115;129;129;120	B4DQW6;C9JW74;Q5EB52;Q5EB52-3	.;.;MEST_HUMAN;.	V	120;120;120;120;120;120;120;129;129;120;120	ENSP00000342749:A120V;ENSP00000409505:A120V;ENSP00000408933:A120V;ENSP00000367839:A120V;ENSP00000409768:A120V;ENSP00000376884:A120V;ENSP00000407222:A120V;ENSP00000223215:A129V;ENSP00000401657:A129V;ENSP00000393709:A120V	ENSP00000223215:A129V	A	+	2	0	0	MEST	129925262	129925262	0.959000	0.32827	0.295000	0.24960	0.286000	0.27126	2.122000	0.41987	1.390000	0.46547	0.561000	0.74099	GCG		0.502	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2		19.013391	18	18	94	94	NM_002402		10	25.113488	25.113488	49	0.169492	0	0	0	1	0	10	49	0.169492	T	130138026	C	T	130138026	3	4	80	1	0	0	0	0	1	0	0	0	9484	768	27	1	404	1	MEST	7	130138026	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7350704	130138026	29000637	213	1728											
OR2A14	135941	broad.mit.edu	37	7	143826996	143826996	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:143826996G>A	ENST00000408899.2	+	1	846	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCCAAGTCCCGCCATCCTGAG	0.542																																						ENST00000408899.2											0			large_intestine(4)|lung(17)|skin(1)	22						c.(790-792)cGc>cAc	olfactory receptor, family 2, subfamily A, member 14						116	122	120					7																	143826996		1977	4168	6145	SO:0001583	missense	135941			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826996G>A			CCDS43672.1	CCDS43672.1	7q35	2013-09-20		2004-03-08	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	15084	15084	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						OR2A14P, OR2A6		OR2A14P, OR2A6				Standard	Standard	NM_001001659	NM_001001659		Approved	OST182	uc011kua.2	uc011kua.2	Q96R47	Q96R47	OTTHUMG00000158003	OTTHUMG00000158003	ENST00000408899.2:c.791G>A	7.37:g.143826996G>A	ENSP00000386137:p.Arg264His			p.R264H	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	846	+	Melanoma(164;0.0783)		264		Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.791G>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	2.913	-0.224927	0.06022	.	.	ENSG00000221938	ENST00000408899	T	0.00115	8.71	4.18	-5.3	0.02738	4.18	-5.3	0.02738	GPCR, rhodopsin-like superfamily (1);	2.119410	0.03153	U	0.168207	T	0.00109	0.0003	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.28235	-1.0050	10	0.54805	T	0.06	0.4492	8.5452	0.33417	0.6459:0.1234:0.2307:0.0	.	264	Q96R47	O2A14_HUMAN	H	264	ENSP00000386137:R264H	ENSP00000386137:R264H	R	+	2	0	0	OR2A14	143457929	143457929	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.642000	0.00863	-1.416000	0.02019	-1.077000	0.02231	CGC		0.542	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1		118.349831	-47	-47	194	194			42	119.686936	119.686936	68	0.381818	0	0	0	1	0	42	68	0.381818	A	143826996	G	A	143826996	3	1	80	1	0	0	0	0	1	0	0	0	10976	1087	38	1	793	1	OR2A14	7	143826996	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	13688970	143826996	15311667	214	1729											
ZNF425	155054	broad.mit.edu	37	7	148802334	148802334	+	Missense_Mutation	SNP	C	C	T	rs147910083	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:148802334C>T	ENST00000378061.2	-	4	761	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	210					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGAGTGGCTCCGTTTGTGCTT	0.522													C|||	2	0.000399361	0	0	5008	,	,		18300	0		0.002	False		,,,				2504	0					ENST00000378061.2											0			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(628-630)cGg>cAg	zinc finger protein 425	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	67	70	69		629	1	0	7	dbSNP_134	69	0,8600		0,0,4300	yes	missense	ZNF425	NM_001001661.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	210/753	148802334	1,13005	2203	4300	6503	SO:0001583	missense	155054			negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802334C>T	AK056498	AK056498	CCDS34773.1	CCDS34773.1	7q36.1	2013-01-08			2013-01-08			ENSG00000204947	ENSG00000204947	ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	20690	20690	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001001661	NM_001001661		Approved		uc003wfj.3	uc003wfj.3	Q6IV72	Q6IV72	OTTHUMG00000158971	OTTHUMG00000158971	ENST00000378061.2:c.629G>A	7.37:g.148802334C>T	ENSP00000367300:p.Arg210Gln			p.R210Q	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	761	-	Melanoma(164;0.15)		210		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.629G>A	CCDS34773.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.88	2.370085	0.42003	2.27E-4	0.0	ENSG00000204947	ENST00000378061	T	0.07444	3.19	2.89	0.995	0.19838	2.89	0.995	0.19838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11793	0.0287	M	0.62266	1.93	0.24276	N	0.99523	D	0.58970	0.984	P	0.46419	0.516	T	0.16748	-1.0392	9	0.59425	D	0.04	.	6.6514	0.22965	0.0:0.7418:0.0:0.2582	.	210	Q6IV72	ZN425_HUMAN	Q	210	ENSP00000367300:R210Q	ENSP00000367300:R210Q	R	-	2	0	0	ZNF425	148433267	148433267	0.000000	0.05858	0.012000	0.15200	0.662000	0.39071	0.435000	0.21510	0.115000	0.18071	-0.136000	0.14681	CGG		0.522	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1		48.454381	5	5	80	80	XM_088140		17	50.527325	50.527325	40	0.298246	0	0	0	1	0	17	40	0.298246	T	148802334	C	T	148802334	3	4	80	1	0	0	0	0	1	0	0	0	17896	652	23	1	1633	1	ZNF425	7	148802334	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4975338	148802334	10336329	215	1730											
SSPO	23145	broad.mit.edu	37	7	149515812	149515812	+	RNA	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:149515812C>T	ENST00000378016.2	+	0	11713							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCATGGCGCAGCCGCAC	0.687																																						ENST00000378016.2											0											SCO-spondin						16	18	17					7																	149515812		1986	4157	6143			23145			cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515812C>T	AK093431	AK093431			7q36.1	2013-08-07	2013-08-06		2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558	ENSG00000197558	ENSG00000197558				21998	21998	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"			"SCO-spondin homolog (Bos taurus)"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	8743952, 11008217	Standard	Standard	NM_198455	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	uc010lpk.3	A2VEC9	A2VEC9	OTTHUMG00000157884	OTTHUMG00000157884		7.37:g.149515812C>T							A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11713	+	Melanoma(164;0.165)|Ovarian(565;0.177)				Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																											0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			8.835016	11	11	27	27			5	10.001749	10.001749	15	0.25	0	0	0	1	0	5	15	0.25	T	149515812	C	T	149515812	1	4	80	0	1	0	0	0	0	0	0	0	15188	768	27	1		1	SSPO	7	149515812	RNA	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	713478	149515812	9622851	216	1731											
SLC4A2	6522	broad.mit.edu	37	7	150768837	150768837	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:150768837C>T	ENST00000485713.1	+	15	3293	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	SLC4A2_ENST00000392826.2_Silent_p.G742G|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Silent_p.G751G|SLC4A2_ENST00000461735.1_Silent_p.G737G|SLC4A2_ENST00000310317.5_Silent_p.G669G	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	751	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTCCAGGGCGTGGTCTTCT	0.622																																						ENST00000485713.1											0			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2251-2253)ggC>ggT	solute carrier family 4 (anion exchanger), member 2						82	88	86					7																	150768837		2203	4300	6503	SO:0001819	synonymous_variant	6522			bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150768837C>T			CCDS5917.1, CCDS56520.1, CCDS56521.1	CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889	ENSG00000164889	ENSG00000164889		"Solute carriers"	"Solute carriers"	11028	11028	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	8434259	Standard	Standard	NM_003040	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	uc003wit.4	P04920	P04920	OTTHUMG00000158443	OTTHUMG00000158443	ENST00000485713.1:c.2253C>T	7.37:g.150768837C>T			SLC4A2_ENST00000461735.1_Silent_p.G737G|SLC4A2_ENST00000310317.5_Silent_p.G669G|SLC4A2_ENST00000413384.2_Silent_p.G751G|SLC4A2_ENST00000392826.2_Silent_p.G742G	p.G751G	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	15	3293	+			751	Membrane (anion exchange).	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.2253C>T	CCDS5917.1																																																																																									0.622	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1		27.471236	-4	-4	92	92	NM_003040		12	31.30458	31.30458	42	0.222222	0	0	0	1	0	12	42	0.222222	T	150768837	C	T	150768837	2	4	80	1	0	0	0	0	0	0	0	1	14654	755	27	1		1	SLC4A2	7	150768837	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1253025	150768837	8369826	217	1732											
ASB10	136371	broad.mit.edu	37	7	150878399	150878399	+	Missense_Mutation	SNP	C	C	T	rs104886476	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:150878399C>T	ENST00000420175.2	-	3	755	c.731G>A	c.(730-732)cGc>cAc	p.R244H	ASB10_ENST00000377867.3_Missense_Mutation_p.R229H|ASB10_ENST00000422024.1_Missense_Mutation_p.R289H|ASB10_ENST00000434669.1_Missense_Mutation_p.R289H|ASB10_ENST00000275838.1_Missense_Mutation_p.R244H			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	244					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCGGCATTGCGGGCATCAGG	0.657													C|||	4	0.000798722	0	0	5008	,	,		15814	0.004		0	False		,,,				2504	0					ENST00000422024.1											0			NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(865-867)cGc>cAc	ankyrin repeat and SOCS box containing 10						35	35	35					7																	150878399		2203	4300	6503	SO:0001583	missense	136371			intracellular signal transduction			g.chr7:150878399C>T	AK055536	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926	ENSG00000146926	ENSG00000146926		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	17185	17185	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615054	615054	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F	"ankyrin repeat and SOCS box-containing 10", "glaucoma 1, open angle, F (adult-onset)"	GLC1F		22156576	22156576	Standard	Standard	NM_080871	NM_080871		Approved		uc003wjm.1	uc003wjm.1	Q8WXI3	Q8WXI3	OTTHUMG00000157013	OTTHUMG00000157013	ENST00000420175.2:c.731G>A	7.37:g.150878399C>T	ENSP00000391137:p.Arg244His		ASB10_ENST00000377867.3_Missense_Mutation_p.R229H|ASB10_ENST00000275838.1_Missense_Mutation_p.R244H|ASB10_ENST00000420175.2_Missense_Mutation_p.R244H|ASB10_ENST00000434669.1_Missense_Mutation_p.R289H	p.R289H	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	991	-			244		A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.866G>A	CCDS47750.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	15.25	2.779284	0.49891	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.24	3.4	0.38934	5.24	3.4	0.38934	Ankyrin repeat-containing domain (3);	0.191712	0.46145	D	0.000311	T	0.72179	0.3428	L	0.58583	1.82	0.28234	N	0.925985	D;D;D	0.71674	0.989;0.995;0.998	P;P;P	0.61201	0.817;0.885;0.862	T	0.64162	-0.6472	10	0.46703	T	0.11	-7.3683	8.1899	0.31361	0.0:0.696:0.0:0.304	.	229;244;289	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	H	244;229;289;289;244	ENSP00000275838:R244H;ENSP00000367098:R229H;ENSP00000401369:R289H;ENSP00000398247:R289H;ENSP00000391137:R244H	ENSP00000275838:R244H	R	-	2	0	0	ASB10	150509332	150509332	0.001000	0.12720	0.489000	0.27452	0.464000	0.32679	0.288000	0.18939	1.339000	0.45563	0.655000	0.94253	CGC		0.657	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3		7.083566	3	3	32	32	NM_080871		4	10.291033	10.291033	23	0.148148	0	0	0	1	0	4	23	0.148148	T	150878399	C	T	150878399	3	4	80	1	0	0	0	0	1	0	0	0	1014	768	27	1	684	1	ASB10	7	150878399	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	109562	150878399	8260264	218	1733											
MLL3	58508	broad.mit.edu	37	7	151879152	151879152	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:151879152C>T	ENST00000262189.6	-	36	6011	c.5793G>A	c.(5791-5793)tcG>tcA	p.S1931S	KMT2C_ENST00000355193.2_Silent_p.S1931S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1931	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCCTAGATACCGATGATAAAG	0.448																																						ENST00000355193.2											0										c.(5791-5793)tcG>tcA	lysine (K)-specific methyltransferase 2C						96	99	98					7																	151879152		2203	4300	6503	SO:0001819	synonymous_variant	58508						g.chr7:151879152C>T	AF264750	AF264750	CCDS5931.1	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	13726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606833	606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	10819331	Standard	Standard	XM_005250026	XM_005250026		Approved	KIAA1506, HALR			Q8NEZ4	Q8NEZ4	OTTHUMG00000150553	OTTHUMG00000150553	ENST00000262189.6:c.5793G>A	7.37:g.151879152C>T			KMT2C_ENST00000262189.6_Silent_p.S1931S	p.S1931S							36	6011	-					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.5793G>A	CCDS5931.1																																																																																									0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		14.928640	-13	-13	77	77			9	24.093327	24.093327	60	0.130435	0	0	0	1	0	9	60	0.130435	T	151879152	C	T	151879152	2	4	80	1	0	0	0	0	0	0	0	1	9622	639	23	1		1	MLL3	7	151879152	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1000753	151879152	7259511	219	1734											
XRCC2	7516	broad.mit.edu	37	7	152345797	152345797	+	Missense_Mutation	SNP	C	C	T	rs149186933		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:152345797C>T	ENST00000359321.1	-	3	858	c.773G>A	c.(772-774)cGt>cAt	p.R258H	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	258					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.R258H(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTTTAAACAACGTGAAACTAA	0.333								Homologous recombination																														ENST00000359321.1											1	Substitution - Missense(1)	large_intestine(1)	NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(772-774)cGt>cAt	X-ray repair complementing defective repair in Chinese hamster cells 2	C	HIS/ARG	0,4406		0,0,2203	85	90	89		773	1.5	0.9	7	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	XRCC2	NM_005431.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	258/281	152345797	1,13005	2203	4300	6503	SO:0001583	missense	7516			meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152345797C>T	Y08837	Y08837	CCDS5933.1	CCDS5933.1	7q36	2006-05-04			2006-05-04			ENSG00000196584	ENSG00000196584	ENSG00000196584	ENSG00000196584				12829	12829	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RAD51-like"	"RAD51-like"	600375	600375						7607692, 10422536	7607692, 10422536	Standard	Standard	NM_005431	NM_005431		Approved		uc003wld.3	uc003wld.3	O43543	O43543	OTTHUMG00000151470	OTTHUMG00000151470	ENST00000359321.1:c.773G>A	7.37:g.152345797C>T	ENSP00000352271:p.Arg258His		XRCC2_ENST00000495707.1_5'UTR	p.R258H	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	858	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	258		B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	c.773G>A	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	C	6.232	0.410989	0.11812	0.0	1.16E-4	ENSG00000196584	ENST00000359321	T	0.66099	-0.19	5.29	1.47	0.22746	5.29	1.47	0.22746	.	0.634660	0.16755	N	0.200854	T	0.53334	0.1790	L	0.57536	1.79	0.24281	N	0.995205	B	0.12630	0.006	B	0.06405	0.002	T	0.41770	-0.9490	10	0.28530	T	0.3	-13.3511	9.4934	0.38974	0.0:0.7092:0.0:0.2908	.	258	O43543	XRCC2_HUMAN	H	258	ENSP00000352271:R258H	ENSP00000352271:R258H	R	-	2	0	0	XRCC2	151976730	151976730	0.978000	0.34361	0.943000	0.38184	0.129000	0.20672	0.387000	0.20718	0.248000	0.21435	-0.262000	0.10625	CGT		0.333	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1		-1.442304	-15	-15	77	77	NM_005431		4	7.826355	7.826355	47	0.078431	0	0	0	1	0	4	47	0.078431	T	152345797	C	T	152345797	3	4	80	1	0	0	0	0	1	0	0	0	17450	536	19	1	73	1	XRCC2	7	152345797	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	466645	152345797	6792866	220	1735											
CSMD1	64478	broad.mit.edu	37	8	3263583	3263583	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:3263583G>A	ENST00000520002.1	-	16	2790	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N	CSMD1_ENST00000542608.1_Silent_p.N744N|CSMD1_ENST00000602557.1_Silent_p.N745N|CSMD1_ENST00000539096.1_Silent_p.N744N|CSMD1_ENST00000537824.1_Silent_p.N744N|CSMD1_ENST00000602723.1_Silent_p.N745N|CSMD1_ENST00000400186.3_Silent_p.N745N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	745	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCAGACCACGTTCCCGTCTT	0.552																																						ENST00000602557.1											0			breast(20)|large_intestine(5)	25						c.(2233-2235)aaC>aaT	CUB and Sushi multiple domains 1						60	61	60					8																	3263583		1982	4173	6155	SO:0001819	synonymous_variant	64478				integral to membrane		g.chr8:3263583G>A					8p23.2	2012-04-17			2012-04-17			ENSG00000183117	ENSG00000183117	ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	14026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	"protein phosphatase 1, regulatory subunit 24"	608397	608397								Standard	Standard	NM_033225	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	uc022aqr.1	Q96PZ7	Q96PZ7	OTTHUMG00000163605	OTTHUMG00000163605	ENST00000520002.1:c.2235C>T	8.37:g.3263583G>A			CSMD1_ENST00000400186.3_Silent_p.N745N|CSMD1_ENST00000539096.1_Silent_p.N744N|CSMD1_ENST00000602723.1_Silent_p.N745N|CSMD1_ENST00000542608.1_Silent_p.N744N|CSMD1_ENST00000520002.1_Silent_p.N745N|CSMD1_ENST00000537824.1_Silent_p.N744N	p.N745N			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2790	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	745	Sushi 4.	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2235C>T		.	.	.	.	.	.	.	.	.	.	G	9.151	1.016301	0.19355	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.36	-7.22	0.01485	5.36	-7.22	0.01485	.	.	.	.	.	T	0.62368	0.2422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66575	-0.5889	4	.	.	.	.	15.6057	0.76668	0.4359:0.0:0.5641:0.0	.	.	.	.	C	225	.	.	R	-	1	0	0	CSMD1	3250990	3250990	0.006000	0.16342	0.763000	0.31416	0.837000	0.47467	-0.625000	0.05534	-1.745000	0.01337	-0.469000	0.05056	CGT		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		35.992317	-6	-6	59	59	NM_033225		12	36.431209	36.431209	20	0.375	0	0	0	1	0	12	20	0.375	A	3263583	G	A	3263583	2	1	80	1	0	0	0	0	0	0	0	1	3944	1136	40	1		1	CSMD1	8	3263583	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		3263583	143100439	221	1736											
SGK223	157285	broad.mit.edu	37	8	8175725	8175725	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:8175725G>A	ENST00000520004.1	-	6	4424	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V			Q86YV5	SG223_HUMAN		1391							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCCGGGCTCCGCAGACGCCAG	0.647																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1											0										c.(4159-4161)gCg>gTg							37	46	43					8																	8175725		2019	4175	6194	SO:0001583	missense	0					ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175725G>A																																																	ENST00000520004.1:c.4160C>T	8.37:g.8175725G>A	ENSP00000428054:p.Ala1387Val		SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V	p.A1387V			Q86YV5	SG223_HUMAN			6	4424	-			1387		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.4160C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190369	0.78789	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.14516	2.5;2.5	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.054657	0.64402	D	0.000001	T	0.34948	0.0915	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01613	-1.1312	10	0.87932	D	0	.	18.7301	0.91731	0.0:0.0:1.0:0.0	.	1387	Q86YV5	SG223_HUMAN	V	1387	ENSP00000330930:A1387V;ENSP00000428054:A1387V	ENSP00000330930:A1387V	A	-	2	0	0	AC068353.1	8213135	8213135	1.000000	0.71417	0.163000	0.22734	0.480000	0.33159	9.825000	0.99386	2.748000	0.94277	0.462000	0.41574	GCG		0.647	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		54.476626	3	3	54	54			17	54.503808	54.503808	15	0.53125	0	0	0	1	0	17	15	0.53125	A	8175725	G	A	8175725	3	1	80	1	0	0	0	0	1	0	0	0	14210	1087	38	1	52	1	SGK223	8	8175725	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4912142	8175725	138188297	222	1737											
MSR1	4481	broad.mit.edu	37	8	16012621	16012621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:16012621G>A	ENST00000262101.5	-	6	971	c.850C>T	c.(850-852)Cga>Tga	p.R284*	MSR1_ENST00000536385.1_Nonsense_Mutation_p.R58*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.R302*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.R284*|MSR1_ENST00000350896.3_Nonsense_Mutation_p.R284*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.R284*			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	284	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTGGGACCTCGATCTCCTTTT	0.393																																						ENST00000350896.3											0			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(850-852)Cga>Tga	macrophage scavenger receptor 1						69	69	69					8																	16012621		2203	4300	6503	SO:0001587	stop_gained	0			cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16012621G>A	D13263	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			2006-02-22			ENSG00000038945	ENSG00000038945	ENSG00000038945	ENSG00000038945		"CD molecules"	"CD molecules"	7376	7376	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			153622	153622						2251254	2251254	Standard	Standard	NM_138715	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	uc003wwz.3	P21757	P21757	OTTHUMG00000094809	OTTHUMG00000094809	ENST00000262101.5:c.850C>T	8.37:g.16012621G>A	ENSP00000262101:p.Arg284*		MSR1_ENST00000262101.5_Nonsense_Mutation_p.R284*|MSR1_ENST00000536385.1_Nonsense_Mutation_p.R58*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.R284*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.R284*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.R302*	p.R284*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	6	1047	-			284	Collagen-like.	D3DSP3|O60505|P21759|Q45F10	Nonsense_Mutation	SNP	ENST00000262101.5	37	c.850C>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894614	0.91962	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	.	.	.	4.87	0.814	0.18756	4.87	0.814	0.18756	.	0.329552	0.26032	N	0.026754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5783	0.50877	0.0:0.0:0.5001:0.4999	.	.	.	.	X	284;284;302;284;74;284;58	.	ENSP00000262101:R284X	R	-	1	2	2	MSR1	16056992	16056992	0.409000	0.25368	0.953000	0.39169	0.259000	0.26198	0.384000	0.20668	0.379000	0.24794	-0.284000	0.09977	CGA		0.393	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		-0.842896	9	9	58	58			4	9.218738	9.218738	50	0.074074	0	0	0	1	0	4	50	0.074074	A	16012621	G	A	16012621	4	1	80	1	0	0	0	0	0	1	0	0	9886	1066	37	1	573	1	MSR1	8	16012621	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7836896	16012621	130351401	223	1738											
XPO7	23039	broad.mit.edu	37	8	21839354	21839354	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:21839354G>A	ENST00000252512.9	+	10	1170	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	XPO7_ENST00000433566.4_Missense_Mutation_p.R358Q|XPO7_ENST00000434536.1_Missense_Mutation_p.R366Q	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	357				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAGGTCATCCGATTGATAGCC	0.423																																						ENST00000434536.1											0			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1096-1098)cGa>cAa	exportin 7						168	157	160					8																	21839354		1871	4096	5967	SO:0001583	missense	23039			mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21839354G>A	AF064729	AF064729	CCDS47818.1	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227	ENSG00000130227	ENSG00000130227		"Exportins"	"Exportins"	14108	14108	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606140	606140	"RAN binding protein 16"	RANBP16	"RAN binding protein 16"	RANBP16		11024021, 9872452	11024021, 9872452	Standard	Standard	NM_015024	NM_015024		Approved	KIAA0745	uc003xaa.4	uc003xaa.4	Q9UIA9	Q9UIA9	OTTHUMG00000163789	OTTHUMG00000163789	ENST00000252512.9:c.1070G>A	8.37:g.21839354G>A	ENSP00000252512:p.Arg357Gln		XPO7_ENST00000252512.9_Missense_Mutation_p.R357Q|XPO7_ENST00000433566.4_Missense_Mutation_p.R358Q	p.R366Q			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	10	1199	+			357		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1097G>A	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258638	0.39896	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.39787	1.06;1.06;1.06	5.69	5.69	0.88448	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	N	0.02357	-0.585	0.80722	D	1	B;B;B	0.19935	0.04;0.02;0.02	B;B;B	0.09377	0.004;0.003;0.003	T	0.23297	-1.0192	10	0.02654	T	1	-6.8499	19.3926	0.94590	0.0:0.0:1.0:0.0	.	358;366;357	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	Q	366;357;358	ENSP00000404853:R366Q;ENSP00000252512:R357Q;ENSP00000410249:R358Q	ENSP00000252512:R357Q	R	+	2	0	0	XPO7	21895300	21895300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.671000	0.90904	0.655000	0.94253	CGA		0.423	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1		155.285897	3	3	139	139	NM_015024		48	155.288263	155.288263	49	0.494845	0	0	0	1	0	48	49	0.494845	A	21839354	G	A	21839354	3	1	80	1	0	0	0	0	1	0	0	0	17446	1058	37	1	1160	1	XPO7	8	21839354	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5826733	21839354	124524668	224	1739											
CHMP7	91782	broad.mit.edu	37	8	23106868	23106868	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:23106868G>A	ENST00000397677.1	+	3	1093	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	CHMP7_ENST00000313219.7_Missense_Mutation_p.V149I	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	149					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCTGAGGAGGTCCTTGTCGC	0.557																																						ENST00000397677.1											0			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(445-447)Gtc>Atc	charged multivesicular body protein 7						66	58	61					8																	23106868		2203	4300	6503	SO:0001583	missense	91782			cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23106868G>A	BC019110	BC019110	CCDS6040.1	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457	ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	"Charged multivesicular body proteins"	28439	28439	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611130	611130	"CHMP family, member 7"		"CHMP family, member 7"			16856878	16856878	Standard	Standard	NM_152272	NM_152272		Approved	MGC29816	uc003xdc.2	uc003xdc.2	Q8WUX9	Q8WUX9	OTTHUMG00000131785	OTTHUMG00000131785	ENST00000397677.1:c.445G>A	8.37:g.23106868G>A	ENSP00000380794:p.Val149Ile		CHMP7_ENST00000313219.7_Missense_Mutation_p.V149I	p.V149I	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	1093	+		Prostate(55;0.0513)	149		B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.445G>A	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920655	0.33908	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57107	0.42;0.42	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.335174	0.32416	N	0.006140	T	0.35885	0.0947	N	0.22421	0.69	0.31742	N	0.635666	P	0.39216	0.664	B	0.35353	0.201	T	0.47799	-0.9089	10	0.35671	T	0.21	-13.4	11.1296	0.48339	0.0845:0.0:0.9155:0.0	.	149	Q8WUX9	CHMP7_HUMAN	I	149	ENSP00000380794:V149I;ENSP00000324491:V149I	ENSP00000324491:V149I	V	+	1	0	0	CHMP7	23162813	23162813	1.000000	0.71417	0.993000	0.49108	0.861000	0.49209	5.057000	0.64294	2.495000	0.84180	0.591000	0.81541	GTC		0.557	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1		48.174410	27	27	47	47	NM_152272		16	48.599199	48.599199	9	0.64	0	0	0	1	0	16	9	0.64	A	23106868	G	A	23106868	3	1	80	1	0	0	0	0	1	0	0	0	3361	1261	44	3	451	3	CHMP7	8	23106868	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1267514	23106868	123257154	225	1740											
GTF2E2	2961	broad.mit.edu	37	8	30511073	30511073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:30511073G>A	ENST00000355904.4	-	2	325	c.43C>T	c.(43-45)Cga>Tga	p.R15*		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	15					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		GAAAGAGCTCGTTTTTTGAAC	0.378																																						ENST00000355904.4											0			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(43-45)Cga>Tga	general transcription factor IIE, polypeptide 2, beta 34kDa						94	91	92					8																	30511073		2203	4300	6503	SO:0001587	stop_gained	2961			regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30511073G>A	BC030572	BC030572	CCDS6078.1	CCDS6078.1	8p12	2010-03-23	2002-08-29		2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265	ENSG00000197265	ENSG00000197265		"General transcription factors"	"General transcription factors"	4651	4651	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			189964	189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"		"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	1956404	Standard	Standard	NM_002095	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	uc003xig.3	P29084	P29084	OTTHUMG00000163934	OTTHUMG00000163934	ENST00000355904.4:c.43C>T	8.37:g.30511073G>A	ENSP00000348168:p.Arg15*			p.R15*	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	2	325	-			15		D3DSV2|Q9H2B9	Nonsense_Mutation	SNP	ENST00000355904.4	37	c.43C>T	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	G	37	5.991135	0.97179	.	.	ENSG00000197265	ENST00000355904;ENST00000518599;ENST00000518445	.	.	.	5.7	3.85	0.44370	5.7	3.85	0.44370	.	0.064443	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9014	10.7869	0.46411	0.0:0.1424:0.7097:0.1479	.	.	.	.	X	15	.	ENSP00000348168:R15X	R	-	1	2	2	GTF2E2	30630615	30630615	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.603000	0.54074	0.708000	0.31955	0.644000	0.83932	CGA		0.378	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2		48.593988	-4	-4	60	60	NM_002095		16	48.800574	48.800574	22	0.421053	0	0	0	1	0	16	22	0.421053	A	30511073	G	A	30511073	4	1	80	1	0	0	0	0	0	1	0	0	6857	1153	40	1	860	1	GTF2E2	8	30511073	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7404205	30511073	115852949	226	1741											
GSR	2936	broad.mit.edu	37	8	30541683	30541683	+	Missense_Mutation	SNP	C	C	T	rs138721223	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:30541683C>T	ENST00000221130.5	-	10	1165	c.1075G>A	c.(1075-1077)Gta>Ata	p.V359I	GSR_ENST00000537535.1_Missense_Mutation_p.V277I|GSR_ENST00000546342.1_Missense_Mutation_p.V330I|GSR_ENST00000414019.1_Missense_Mutation_p.V316I|GSR_ENST00000541648.1_Missense_Mutation_p.V306I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	359					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	AATTCGTCTACGATGATATGA	0.423													C|||	2	0.000399361	0.0015	0	5008	,	,		23484	0		0	False		,,,				2504	0					ENST00000221130.5											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23						c.(1075-1077)Gta>Ata	glutathione reductase	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	314	258	277		1075,988,916,829	5.8	0.1	8	dbSNP_134	277	0,8600		0,0,4300	no	missense,missense,missense,missense	GSR	NM_000637.3,NM_001195102.1,NM_001195103.1,NM_001195104.1	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	359/523,330/494,306/470,277/441	30541683	1,13005	2203	4300	6503	SO:0001583	missense	2936			cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30541683C>T			CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			2012-10-02			ENSG00000104687	ENSG00000104687	ENSG00000104687	ENSG00000104687	1.8.1.7			4623	4623	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138300	138300								Standard	Standard	NM_000637	NM_000637		Approved		uc003xih.2	uc003xih.2	P00390	P00390	OTTHUMG00000163946	OTTHUMG00000163946	ENST00000221130.5:c.1075G>A	8.37:g.30541683C>T	ENSP00000221130:p.Val359Ile		GSR_ENST00000546342.1_Missense_Mutation_p.V330I|GSR_ENST00000414019.1_Missense_Mutation_p.V316I|GSR_ENST00000537535.1_Missense_Mutation_p.V277I|GSR_ENST00000541648.1_Missense_Mutation_p.V306I	p.V359I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	10	1165	-			359		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.1075G>A	CCDS34877.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	20.7	4.037543	0.75617	2.27E-4	0.0	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.77	5.77	0.91146	5.77	5.77	0.91146	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.052405	0.85682	D	0.000000	T	0.77870	0.4195	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78927	-0.2011	10	0.87932	D	0	-27.7358	17.5536	0.87884	0.0:1.0:0.0:0.0	.	359	P00390	GSHR_HUMAN	I	359;316;330;306;277	ENSP00000221130:V359I;ENSP00000390065:V316I;ENSP00000445516:V330I;ENSP00000444559:V306I;ENSP00000438845:V277I	ENSP00000221130:V359I	V	-	1	0	0	GSR	30661225	30661225	1.000000	0.71417	0.147000	0.22382	0.242000	0.25591	7.075000	0.76798	2.743000	0.94032	0.644000	0.83932	GTA		0.423	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1		101.859858	-23	-23	127	127			33	102.620833	102.620833	50	0.39759	0	0	0	1	0	33	50	0.39759	T	30541683	C	T	30541683	3	4	80	1	0	0	0	0	1	0	0	0	6828	536	19	1	509	1	GSR	8	30541683	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	30610	30541683	115822339	227	1742											
GPR124	25960	broad.mit.edu	37	8	37698635	37698635	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:37698635G>A	ENST00000412232.2	+	19	2792	c.2779G>A	c.(2779-2781)Gcc>Acc	p.A927T	GPR124_ENST00000315215.7_Missense_Mutation_p.A710T	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	927					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AAGCCTTGGCGCCTTCTACAT	0.627																																						ENST00000315215.7											0			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2128-2130)Gcc>Acc	G protein-coupled receptor 124						107	116	113					8																	37698635		2203	4300	6503	SO:0001583	missense	25960			central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698635G>A	AB040964	AB040964	CCDS6097.2	CCDS6097.2	8p11.22	2014-08-08			2014-08-08			ENSG00000020181	ENSG00000020181	ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	17849	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	"tumor endothelial marker 5"	606823	606823						11559528, 12565841	11559528, 12565841	Standard	Standard	NM_032777	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	uc003xkj.3	Q96PE1	Q96PE1	OTTHUMG00000156182	OTTHUMG00000156182	ENST00000412232.2:c.2779G>A	8.37:g.37698635G>A	ENSP00000406367:p.Ala927Thr		GPR124_ENST00000412232.2_Missense_Mutation_p.A927T	p.A710T			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2491	+			927	GPS.	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2128G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568480	0.86439	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.44482	0.92;0.92	4.67	4.67	0.58626	4.67	4.67	0.58626	GPCR, family 2-like (1);	0.062185	0.64402	D	0.000004	T	0.69015	0.3064	M	0.86573	2.825	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.69142	0.962;0.919	T	0.77038	-0.2736	10	0.87932	D	0	-27.2058	17.575	0.87946	0.0:0.0:1.0:0.0	.	710;927	Q96PE1-2;Q96PE1	.;GP124_HUMAN	T	920;710;927	ENSP00000323508:A710T;ENSP00000406367:A927T	ENSP00000323508:A710T	A	+	1	0	0	GPR124	37817793	37817793	1.000000	0.71417	0.986000	0.45419	0.910000	0.53928	5.357000	0.66058	2.138000	0.66242	0.655000	0.94253	GCC		0.627	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		0.357890	-17	-17	127	127			7	15.707095	15.707095	79	0.081395	0	0	0	1	0	7	79	0.081395	A	37698635	G	A	37698635	3	1	80	1	0	0	0	0	1	0	0	0	6638	1087	38	1	2832	1	GPR124	8	37698635	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7156952	37698635	108665387	228	1743											
DDHD2	23259	broad.mit.edu	37	8	38095674	38095674	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:38095674G>A	ENST00000397166.2	+	5	1094	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	DDHD2_ENST00000520272.2_Missense_Mutation_p.R190Q	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	190					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAGCAGGGTCGACCAAGAACT	0.398																																						ENST00000397166.2											0			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(568-570)cGa>cAa	DDHD domain containing 2						230	208	215					8																	38095674		2203	4300	6503	SO:0001583	missense	23259			lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38095674G>A	AK056525	AK056525	CCDS34883.1	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07	2014-03-03	2004-04-05	2004-04-07						"Sterile alpha motif (SAM) domain containing"	"Sterile alpha motif (SAM) domain containing"	29106	29106	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615003	615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	9872452, 11788596, 19632984, 20932832	Standard	Standard	NM_015214	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	uc003xlc.3	O94830	O94830			ENST00000397166.2:c.569G>A	8.37:g.38095674G>A	ENSP00000380352:p.Arg190Gln		DDHD2_ENST00000520272.2_Missense_Mutation_p.R190Q	p.R190Q	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		5	1094	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	190		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.569G>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	36	5.678988	0.96764	.	.	ENSG00000085788	ENST00000397166;ENST00000532222;ENST00000520272	T;T;T	0.35973	1.28;1.28;1.28	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.50847	1.595	0.80722	D	1	P;D	0.89917	0.796;1.0	B;D	0.80764	0.126;0.994	T	0.52260	-0.8599	10	0.52906	T	0.07	-12.3436	19.3432	0.94352	0.0:0.0:1.0:0.0	.	190;190	O94830;E9PKE6	DDHD2_HUMAN;.	Q	190	ENSP00000380352:R190Q;ENSP00000433578:R190Q;ENSP00000429932:R190Q	ENSP00000380352:R190Q	R	+	2	0	0	DDHD2	38214831	38214831	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.475000	0.97721	2.812000	0.96745	0.558000	0.71614	CGA		0.398	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2		111.427057	-9	-9	106	106	XM_291291		35	111.427057	111.427057	35	0.5	0	0	0	1	0	35	35	0.5	A	38095674	G	A	38095674	3	1	80	1	0	0	0	0	1	0	0	0	4327	1058	37	1	583	1	DDHD2	8	38095674	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	397039	38095674	108268348	229	1744											
ANK1	286	broad.mit.edu	37	8	41550657	41550657	+	Missense_Mutation	SNP	C	C	T	rs540853007		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:41550657C>T	ENST00000347528.4	-	30	3678	c.3595G>A	c.(3595-3597)Gag>Aag	p.E1199K	ANK1_ENST00000396942.1_Missense_Mutation_p.E1199K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1199K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1240K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1199K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1199K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1199K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1199	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGGCGCACTCGTTGGCATAT	0.572													C|||	1	0.000199681	0	0	5008	,	,		20867	0.001		0	False		,,,				2504	0					ENST00000396942.1											0			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(3595-3597)Gag>Aag	ankyrin 1, erythrocytic						365	284	312					8																	41550657		2203	4300	6503	SO:0001583	missense	286			axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41550657C>T	M28880	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			2013-01-10			ENSG00000029534	ENSG00000029534	ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	492	492	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612641	612641		ANK		ANK		1689849	1689849	Standard	Standard	NM_001142445	NM_001142445		Approved	SPH1	uc003xom.3	uc003xom.3	P16157	P16157	OTTHUMG00000150281	OTTHUMG00000150281	ENST00000347528.4:c.3595G>A	8.37:g.41550657C>T	ENSP00000339620:p.Glu1199Lys		ANK1_ENST00000265709.8_Missense_Mutation_p.E1240K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1199K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1199K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1199K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1199K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1199K	p.E1199K			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		30	3678	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1199		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3595G>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.728921|4.728921	0.89390|0.89390	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.73789|.	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78|.	4.94|4.94	4.94|4.94	0.65067|0.65067	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.250398|.	0.38492|.	N|.	0.001673|.	T|T	0.60932|0.60932	0.2307|0.2307	L|L	0.38838|0.38838	1.175|1.175	0.54753|0.54753	D|D	0.999983|0.999983	P;P;D;D;P;D|.	0.59357|.	0.886;0.912;0.979;0.972;0.886;0.985|.	B;B;B;B;B;B|.	0.42462|.	0.388;0.239;0.296;0.388;0.388;0.326|.	T|T	0.56679|0.56679	-0.7939|-0.7939	10|5	0.87932|.	D|.	0|.	.|.	18.5488|18.5488	0.91056|0.91056	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1240;1199;1199;1199;1199;515|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	K|Q	1199;1199;1199;1199;1199;1199;1240;1199|520	ENSP00000339620:E1199K;ENSP00000289734:E1199K;ENSP00000369082:E1199K;ENSP00000380149:E1199K;ENSP00000380147:E1199K;ENSP00000309131:E1199K;ENSP00000265709:E1240K|.	ENSP00000265709:E1240K|.	E|R	-|-	1|2	0|0	0|0	ANK1|ANK1	41669814|41669814	41669814|41669814	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.838000|0.838000	0.47535|0.47535	4.859000|4.859000	0.62954|0.62954	2.453000|2.453000	0.82957|0.82957	0.467000|0.467000	0.42956|0.42956	GAG|CGA		0.572	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		-3.717351	15	15	87	87	NM_020475		3	6.405836	6.405836	47	0.06	0	0	0	1	0	3	47	0.06	T	41550657	C	T	41550657	3	4	80	1	0	0	0	0	1	0	0	0	620	893	31	1	2428	1	ANK1	8	41550657	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3454983	41550657	104813365	230	1745											
PRKDC	5591	ucsc.edu	37	8	48849060	48849060	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:48849060G>A	ENST00000314191.2	-	12	1187	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.N377N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	377					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CATCTTTTGCGTTTATAACCT	0.403								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0																	114	114	114					8																	48849060		1994	4166	6160	SO:0001819	synonymous_variant	5591									CCDS75734.1, CCDS75735.1	CCDS75734.1, CCDS75735.1	8q11	2014-09-17			2014-09-17				ENSG00000253729		ENSG00000253729	2.7.11.1			9413	9413	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600899	600899		HYRC, HYRC1		HYRC, HYRC1		7638222	7638222	Standard	Standard	NM_001081640	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	uc003xqi.3	P78527	P78527			ENST00000314191.2:c.1131C>T	8.37:g.48849060G>A																		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																											0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	4	53	53	NM_001081640		14			24							14	24		A	48849060	G	A	48849060	2	1	80	1	0	0	0	0	0	0	0	1	12521	1136	40	1		1	PRKDC	8	48849060	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7298403	48849060	97514962	231	1746											
XKR4	114786	broad.mit.edu	37	8	56436530	56436530	+	Missense_Mutation	SNP	G	G	A	rs377335343		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:56436530G>A	ENST00000327381.6	+	3	1797	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	566						integral component of membrane (GO:0016021)		p.R566Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTCGCAGAGCGGGATGGGTGT	0.552																																						ENST00000327381.6											1	Substitution - Missense(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1696-1698)cGg>cAg	XK, Kell blood group complex subunit-related family, member 4	G	GLN/ARG	0,4406		0,0,2203	73	76	75		1697	5.9	1	8		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	XKR4	NM_052898.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	566/651	56436530	1,13005	2203	4300	6503	SO:0001583	missense	114786				integral to membrane		g.chr8:56436530G>A	AY534241	AY534241	CCDS34893.1	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579	ENSG00000206579	ENSG00000206579				29394	29394	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"X Kell blood group precursor-related family, member 4"		"X Kell blood group precursor-related family, member 4"					Standard	Standard	NM_052898	NM_052898		Approved	KIAA1889	uc003xsf.3	uc003xsf.3	Q5GH76	Q5GH76	OTTHUMG00000164288	OTTHUMG00000164288	ENST00000327381.6:c.1697G>A	8.37:g.56436530G>A	ENSP00000328326:p.Arg566Gln			p.R566Q	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1797	+					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1697G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849069	0.71603	0.0	1.16E-4	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.84070	-1.8	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.89986	0.6874	L	0.59436	1.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.87919	0.2702	10	0.40728	T	0.16	-3.1323	20.3931	0.98965	0.0:0.0:1.0:0.0	.	566	Q5GH76	XKR4_HUMAN	Q	566	ENSP00000328326:R566Q	ENSP00000328326:R566Q	R	+	2	0	0	XKR4	56599084	56599084	1.000000	0.71417	0.998000	0.56505	0.133000	0.20885	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	CGG		0.552	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2		0.399209	-22	-22	51	51	NM_052898		3	7.011696	7.011696	34	0.081081	0	0	0	1	0	3	34	0.081081	A	56436530	G	A	56436530	3	1	80	1	0	0	0	0	1	0	0	0	17430	1116	39	1	1707	1	XKR4	8	56436530	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7587470	56436530	89927492	232	1747											
C8orf84	157869	broad.mit.edu	37	8	73993379	73993379	+	Missense_Mutation	SNP	C	C	T	rs34728970		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:73993379C>T	ENST00000297354.6	-	2	488	c.284G>A	c.(283-285)cGt>cAt	p.R95H	RP11-956J14.1_ENST00000442274.1_RNA|SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	95	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										CCTCCGCACACGGGTTGTAGG	0.652																																						ENST00000297354.6											0										c.(283-285)cGt>cAt	somatomedin B and thrombospondin, type 1 domain containing						65	72	70					8																	73993379		2021	4174	6195	SO:0001583	missense	157869			immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73993379C>T			CCDS43747.2	CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764	ENSG00000164764	ENSG00000164764				30362	30362	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"RPE spondin", "rpe-spondin"	"RPE spondin", "rpe-spondin"			"chromosome 8 open reading frame 84"	C8orf84	"chromosome 8 open reading frame 84"	C8orf84		12107410	12107410	Standard	Standard	NM_153225	NM_153225		Approved	RPESP	uc003xzf.3	uc003xzf.3	Q8IVN8	Q8IVN8	OTTHUMG00000157144	OTTHUMG00000157144	ENST00000297354.6:c.284G>A	8.37:g.73993379C>T	ENSP00000297354:p.Arg95His		SBSPON_ENST00000519697.1_5'UTR	p.R95H	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN			2	488	-			95	TSP type-1.	A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.284G>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888198	0.91814	.	.	ENSG00000164764	ENST00000297354	T	0.21191	2.02	5.29	4.4	0.53042	5.29	4.4	0.53042	.	0.118037	0.56097	D	0.000031	T	0.44117	0.1278	M	0.80982	2.52	0.80722	D	1	D	0.67145	0.996	P	0.58077	0.832	T	0.52026	-0.8630	10	0.66056	D	0.02	-5.0986	15.3079	0.74008	0.1412:0.8588:0.0:0.0	.	95	Q8IVN8	RPESP_HUMAN	H	95	ENSP00000297354:R95H	ENSP00000297354:R95H	R	-	2	0	0	C8orf84	74155933	74155933	1.000000	0.71417	0.971000	0.41717	0.926000	0.56050	5.388000	0.66249	1.204000	0.43247	0.591000	0.81541	CGT		0.652	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2		43.478442	-2	-2	112	112	NM_153225		16	45.632269	45.632269	39	0.290909	0	0	0	1	0	16	39	0.290909	T	73993379	C	T	73993379	3	4	80	1	0	0	0	0	1	0	0	0	2440	536	19	1	526	1	C8orf84	8	73993379	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	17556849	73993379	72370643	233	1748											
GRHL2	79977	broad.mit.edu	37	8	102570889	102570889	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:102570889G>A	ENST00000251808.3	+	4	865	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	GRHL2_ENST00000395927.1_Missense_Mutation_p.R160Q	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	176					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CACTATCCCCGGGGAGATGGG	0.567																																						ENST00000251808.3											0			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(526-528)cGg>cAg	grainyhead-like 2 (Drosophila)						80	73	75					8																	102570889		2203	4300	6503	SO:0001583	missense	79977				cytoplasm|nucleus	DNA binding	g.chr8:102570889G>A	AK023844	AK023844	CCDS34931.1	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307	ENSG00000083307	ENSG00000083307				2799	2799	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608576	608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	12393799	Standard	Standard	NM_024915	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	uc010mbu.3	Q6ISB3	Q6ISB3	OTTHUMG00000149915	OTTHUMG00000149915	ENST00000251808.3:c.527G>A	8.37:g.102570889G>A	ENSP00000251808:p.Arg176Gln		GRHL2_ENST00000395927.1_Missense_Mutation_p.R160Q	p.R176Q	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		4	865	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		176		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.527G>A	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026629	0.35797	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.11169	2.8;2.8	5.33	4.45	0.53987	5.33	4.45	0.53987	.	0.317710	0.40469	N	0.001100	T	0.21227	0.0511	L	0.41236	1.265	0.47245	D	0.999365	D;P	0.76494	0.999;0.454	D;B	0.72625	0.978;0.029	T	0.03413	-1.1039	10	0.16420	T	0.52	-7.6427	13.8279	0.63361	0.0742:0.0:0.9258:0.0	.	176;176	B4DL28;Q6ISB3	.;GRHL2_HUMAN	Q	176;160;176	ENSP00000251808:R176Q;ENSP00000379260:R160Q	ENSP00000251808:R176Q	R	+	2	0	0	GRHL2	102640065	102640065	1.000000	0.71417	0.509000	0.27700	0.377000	0.30045	8.500000	0.90498	1.227000	0.43598	0.637000	0.83480	CGG		0.567	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1		35.555583	-5	-5	81	81	NM_024915		13	37.666476	37.666476	34	0.276596	0	0	0	1	0	13	34	0.276596	A	102570889	G	A	102570889	3	1	80	1	0	0	0	0	1	0	0	0	6764	1116	39	1	541	1	GRHL2	8	102570889	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	28577510	102570889	43793133	234	1749											
TG	7038	broad.mit.edu	37	8	133920513	133920513	+	Silent	SNP	C	C	T	rs143023529		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:133920513C>T	ENST00000220616.4	+	18	3970	c.3930C>T	c.(3928-3930)taC>taT	p.Y1310Y	TG_ENST00000377869.1_Silent_p.Y1310Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1310					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGCTGACTACGCGGATTTGC	0.597																																						ENST00000220616.4											0			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3928-3930)taC>taT	thyroglobulin	T		1,4405	2.1+/-5.4	0,1,2202	76	69	71		3930	2.7	0.1	8	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TG	NM_003235.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1310/2769	133920513	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7038			hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133920513C>T	AU141420	AU141420	CCDS34944.1	CCDS34944.1	8q24	2012-10-02			2012-10-02			ENSG00000042832	ENSG00000042832	ENSG00000042832	ENSG00000042832				11764	11764	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188450	188450								Standard	Standard	NM_003235	NM_003235		Approved	TGN, AITD3	uc003ytw.3	uc003ytw.3	P01266	P01266	OTTHUMG00000164649	OTTHUMG00000164649	ENST00000220616.4:c.3930C>T	8.37:g.133920513C>T			TG_ENST00000377869.1_Silent_p.Y1310Y	p.Y1310Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	18	3970	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1310		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.3930C>T	CCDS34944.1																																																																																									0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		-2.613572	13	13	67	67	NM_003235		3	6.688579	6.688579	44	0.06383	0	0	0	1	0	3	44	0.06383	T	133920513	C	T	133920513	2	4	80	1	0	0	0	0	0	0	0	1	15810	547	19	1		1	TG	8	133920513	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	31349624	133920513	12443509	235	1750											
WISP1	8840	broad.mit.edu	37	8	134225300	134225300	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:134225300C>T	ENST00000250160.6	+	2	369	c.263C>T	c.(262-264)aCg>aTg	p.T88M	WISP1_ENST00000220856.6_Missense_Mutation_p.T88M|WISP1_ENST00000517423.1_Missense_Mutation_p.T88M|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	88	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GACAACTGCACGGAGGCTGCC	0.637																																						ENST00000250160.6											0			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(262-264)aCg>aTg	WNT1 inducible signaling pathway protein 1						60	60	60					8																	134225300		2203	4300	6503	SO:0001583	missense	8840			cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134225300C>T	AF100779	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			2007-05-14			ENSG00000104415	ENSG00000104415	ENSG00000104415	ENSG00000104415				12769	12769	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603398	603398						9843955	9843955	Standard	Standard	NM_003882	NM_003882		Approved	CCN4	uc003yub.3	uc003yub.3	O95388	O95388	OTTHUMG00000164440	OTTHUMG00000164440	ENST00000250160.6:c.263C>T	8.37:g.134225300C>T	ENSP00000250160:p.Thr88Met		WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.T88M|WISP1_ENST00000517423.1_Missense_Mutation_p.T88M	p.T88M	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		2	369	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		88	IGFBP N-terminal.	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.263C>T	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807599	0.70797	.	.	ENSG00000104415	ENST00000250160;ENST00000517423;ENST00000220856	T;T;T	0.63744	-0.06;-0.06;-0.06	5.13	4.19	0.49359	5.13	4.19	0.49359	Insulin-like growth factor-binding protein, IGFBP (3);	0.211578	0.47852	D	0.000217	T	0.75012	0.3792	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.938;0.963	T	0.77651	-0.2508	10	0.72032	D	0.01	-21.5098	13.4726	0.61290	0.157:0.843:0.0:0.0	.	88;88;88	E7EMM5;O95388-2;O95388	.;.;WISP1_HUMAN	M	88	ENSP00000250160:T88M;ENSP00000427744:T88M;ENSP00000220856:T88M	ENSP00000220856:T88M	T	+	2	0	0	WISP1	134294482	134294482	0.992000	0.36948	1.000000	0.80357	0.927000	0.56198	3.001000	0.49488	2.394000	0.81467	0.549000	0.68633	ACG		0.637	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2		7.447712	3	3	75	75	NM_003882		5	12.942108	12.942108	35	0.125	0	0	0	1	0	5	35	0.125	T	134225300	C	T	134225300	3	4	80	1	0	0	0	0	1	0	0	0	17369	536	19	1	269	1	WISP1	8	134225300	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	304787	134225300	12138722	236	1751											
COL22A1	169044	broad.mit.edu	37	8	139767423	139767423	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:139767423C>T	ENST00000303045.6	-	21	2454	c.2008G>A	c.(2008-2010)Gcc>Acc	p.A670T	COL22A1_ENST00000435777.1_Missense_Mutation_p.A670T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	670	Collagen-like 4.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACCGGGGGCGCCTTGGTGA	0.552										HNSCC(7;0.00092)																												ENST00000303045.6											0			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(2008-2010)Gcc>Acc	collagen, type XXII, alpha 1						71	76	75					8																	139767423		2203	4300	6503	SO:0001583	missense	169044			cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139767423C>T	AF406780	AF406780	CCDS6376.1	CCDS6376.1	8q24.3	2013-01-16			2013-01-16			ENSG00000169436	ENSG00000169436	ENSG00000169436	ENSG00000169436		"Collagens"	"Collagens"	22989	22989	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610026	610026								Standard	Standard	NM_152888	NM_152888		Approved		uc003yvd.3	uc003yvd.3	Q8NFW1	Q8NFW1	OTTHUMG00000150035	OTTHUMG00000150035	ENST00000303045.6:c.2008G>A	8.37:g.139767423C>T	ENSP00000303153:p.Ala670Thr		COL22A1_ENST00000435777.1_Missense_Mutation_p.A670T	p.A670T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		21	2454	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		670	Collagen-like 4.|Gly-rich.|Pro-rich.	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2008G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403248	0.42613	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94330	-3.4;-3.4	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.990272	0.08191	N	0.983813	D	0.89001	0.6591	L	0.31845	0.965	0.09310	N	0.999995	B	0.09022	0.002	B	0.08055	0.003	T	0.74771	-0.3552	10	0.15499	T	0.54	.	11.4433	0.50109	0.0:0.1814:0.8186:0.0	.	670	Q8NFW1	COMA1_HUMAN	T	670;670;383	ENSP00000303153:A670T;ENSP00000387655:A670T	ENSP00000303153:A670T	A	-	1	0	0	COL22A1	139836605	139836605	1.000000	0.71417	0.788000	0.31933	0.084000	0.17831	1.926000	0.40084	1.350000	0.45770	-0.187000	0.12897	GCC		0.552	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		51.265440	-6	-6	58	58	XM_291257		17	51.854818	51.854818	28	0.377778	0	0	0	1	0	17	28	0.377778	T	139767423	C	T	139767423	3	4	80	1	0	0	0	0	1	0	0	0	3681	768	27	1	3052	1	COL22A1	8	139767423	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5542123	139767423	6596599	237	1752											
SLC45A4	57210	hgsc.bcm.edu	37	8	142227253	142227253	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:142227253G>A	ENST00000024061.3	-	5	1819	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	SLC45A4_ENST00000519067.1_Silent_p.N504N|SLC45A4_ENST00000517878.1_Silent_p.N555N|SLC45A4_ENST00000433583.2_Silent_p.N497N	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGACCCCGGCGTTGTAGGCTT	0.627																																																	0																	70	69	69					8																	142227253		2203	4300	6503	SO:0001819	synonymous_variant	57210							AB032952	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22			2013-05-22								"Solute carriers"	"Solute carriers"	29196	29196	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001080431	NM_001080431		Approved	KIAA1126	uc003ywd.1	uc003ywd.1	Q5BKX6	Q5BKX6			ENST00000024061.3:c.1512C>T	8.37:g.142227253G>A																		Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37		CCDS34948.1																																																																																									0.627	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3			-1	-1	67	67	XM_050325		15			28							15	28		A	142227253	G	A	142227253	2	1	80	1	0	0	0	0	0	0	0	1	14643	1136	40	1		1	SLC45A4	8	142227253	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2459830	142227253	4136769	238	1753											
EPPK1	83481	broad.mit.edu	37	8	144945210	144945210	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:144945210C>T	ENST00000525985.1	-	2	2283	c.2212G>A	c.(2212-2214)Gtg>Atg	p.V738M				P58107	EPIPL_HUMAN	epiplakin 1	738						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCACGGGCACGCGGTGGCTG	0.657																																						ENST00000525985.1											0			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2212-2214)Gtg>Atg	epiplakin 1						74	78	77					8																	144945210		2038	4153	6191	SO:0001583	missense	83481				cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945210C>T	AB051895	AB051895	CCDS75800.1	CCDS75800.1	8q24.3	2014-09-17			2014-09-17				ENSG00000261150		ENSG00000261150				15577	15577	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	"epidermal autoantigen 450K"	607553	607553						11278896, 15671067	11278896, 15671067	Standard	Standard	NM_031308	NM_031308		Approved	EPIPL1	uc003zaa.1	uc003zaa.1	P58107	P58107			ENST00000525985.1:c.2212G>A	8.37:g.144945210C>T	ENSP00000436337:p.Val738Met			p.V738M			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2283	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		738		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2212G>A		.	.	.	.	.	.	.	.	.	.	C	18.36	3.606780	0.66558	.	.	ENSG00000227184	ENST00000525985	T	0.72725	-0.68	5.06	-0.187	0.13268	5.06	-0.187	0.13268	.	.	.	.	.	T	0.77512	0.4141	M	0.63208	1.945	0.19300	N	0.999978	D	0.69078	0.997	P	0.61003	0.882	T	0.68375	-0.5425	9	0.59425	D	0.04	.	11.4787	0.50312	0.0:0.4244:0.5017:0.0739	.	738	E9PPU0	.	M	738	ENSP00000436337:V738M	ENSP00000436337:V738M	V	-	1	0	0	EPPK1	145017198	145017198	0.000000	0.05858	0.707000	0.30419	0.869000	0.49853	-2.418000	0.01034	0.021000	0.15133	-0.165000	0.13383	GTG		0.657	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		3.482423	-20	-20	91	91	NM_031308		7	14.921057	14.921057	64	0.098592	0	0	0	1	0	7	64	0.098592	T	144945210	C	T	144945210	3	4	80	1	0	0	0	0	1	0	0	0	5190	536	19	1	5054	1	EPPK1	8	144945210	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2717957	144945210	1418812	239	1754											
PLEC	5339	broad.mit.edu	37	8	144990788	144990788	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:144990788C>T	ENST00000322810.4	-	32	13781	c.13612G>A	c.(13612-13614)Gac>Aac	p.D4538N	PLEC_ENST00000356346.3_Missense_Mutation_p.D4387N|PLEC_ENST00000398774.2_Missense_Mutation_p.D4369N|PLEC_ENST00000354958.2_Missense_Mutation_p.D4379N|PLEC_ENST00000357649.2_Missense_Mutation_p.D4405N|PLEC_ENST00000345136.3_Missense_Mutation_p.D4401N|PLEC_ENST00000436759.2_Missense_Mutation_p.D4428N|PLEC_ENST00000354589.3_Missense_Mutation_p.D4401N|PLEC_ENST00000527096.1_Missense_Mutation_p.D4424N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4538	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCGGCGTGTCGGGCTCGATC	0.706																																						ENST00000322810.4											0			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13612-13614)Gac>Aac	plectin						19	23	22					8																	144990788		1924	4095	6019	SO:0001583	missense	5339			cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990788C>T	U53204	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	ENSG00000178209	ENSG00000178209				9069	9069	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601282	601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	8633055, 8696340	Standard	Standard	XM_005250976	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	uc003zaf.1	Q15149	Q15149	OTTHUMG00000165291	OTTHUMG00000165291	ENST00000322810.4:c.13612G>A	8.37:g.144990788C>T	ENSP00000323856:p.Asp4538Asn		PLEC_ENST00000357649.2_Missense_Mutation_p.D4405N|PLEC_ENST00000356346.3_Missense_Mutation_p.D4387N|PLEC_ENST00000527096.1_Missense_Mutation_p.D4424N|PLEC_ENST00000354958.2_Missense_Mutation_p.D4379N|PLEC_ENST00000436759.2_Missense_Mutation_p.D4428N|PLEC_ENST00000398774.2_Missense_Mutation_p.D4369N|PLEC_ENST00000354589.3_Missense_Mutation_p.D4401N|PLEC_ENST00000345136.3_Missense_Mutation_p.D4401N	p.D4538N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13781	-			4538	Globular 2.	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13612G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.445	0.641434	0.14451	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.05	4.18	0.49190	5.05	4.18	0.49190	.	0.077468	0.48286	U	0.000197	T	0.54565	0.1866	N	0.05534	-0.03	0.47819	D	0.999521	P;P;P;P;P;P;P;P	0.46578	0.854;0.854;0.854;0.88;0.854;0.854;0.854;0.854	B;B;B;B;B;B;B;B	0.43889	0.213;0.213;0.213;0.435;0.213;0.308;0.213;0.213	T	0.63994	-0.6511	10	0.72032	D	0.01	.	13.5481	0.61715	0.0:0.9238:0.0:0.0762	.	4428;4387;4379;4538;4369;4401;4405;4401	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	4401;4405;4401;4369;4538;4379;4387;4428;4424	ENSP00000344848:D4401N;ENSP00000350277:D4405N;ENSP00000346602:D4401N;ENSP00000381756:D4369N;ENSP00000323856:D4538N;ENSP00000347044:D4379N;ENSP00000348702:D4387N;ENSP00000388180:D4428N;ENSP00000434583:D4424N	ENSP00000323856:D4538N	D	-	1	0	0	PLEC	145062776	145062776	1.000000	0.71417	0.109000	0.21407	0.064000	0.16182	5.880000	0.69698	1.340000	0.45581	0.643000	0.83706	GAC		0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		51.975494	-21	-21	53	53	NM_000445		17	51.975494	51.975494	17	0.5	0	0	0	1	0	17	17	0.5	T	144990788	C	T	144990788	3	4	80	1	0	0	0	0	1	0	0	0	12052	884	31	1	446	1	PLEC	8	144990788	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	45578	144990788	1373234	240	1755											
DCAF12	25853	broad.mit.edu	37	9	34093293	34093293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:34093293G>A	ENST00000361264.4	-	7	1356	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	339					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCACTGCCTCGCTCCCTGGAA	0.502																																						ENST00000361264.4											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1015-1017)Cga>Tga	DDB1 and CUL4 associated factor 12						148	125	133					9																	34093293		2203	4300	6503	SO:0001587	stop_gained	25853				centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34093293G>A	AB067479	AB067479	CCDS6549.1	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	19911	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cancer/testis antigen 102"	"cancer/testis antigen 102"			"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A	"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	11572484, 9110174	Standard	Standard	NM_015397	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	uc003ztt.2	Q5T6F0	Q5T6F0	OTTHUMG00000019806	OTTHUMG00000019806	ENST00000361264.4:c.1015C>T	9.37:g.34093293G>A	ENSP00000355114:p.Arg339*		RP11-537H15.3_ENST00000448245.1_RNA	p.R339*	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN			7	1356	-			339		A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Nonsense_Mutation	SNP	ENST00000361264.4	37	c.1015C>T	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	G	40	8.439080	0.98813	.	.	ENSG00000198876	ENST00000361264	.	.	.	5.75	2.8	0.32819	5.75	2.8	0.32819	.	0.124867	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-23.3755	14.8729	0.70471	0.0:0.0:0.6244:0.3756	.	.	.	.	X	339	.	ENSP00000355114:R339X	R	-	1	2	2	DCAF12	34083293	34083293	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.577000	0.36515	0.305000	0.22832	0.655000	0.94253	CGA		0.502	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2		65.368894	6	6	68	68	NM_015397		21	65.586567	65.586567	28	0.428571	0	0	0	1	0	21	28	0.428571	A	34093293	G	A	34093293	4	1	80	1	0	0	0	0	0	1	0	0	4263	1095	38	1	358	1	DCAF12	9	34093293	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		34093293	107120138	241	1756											
FRMPD1	22844	broad.mit.edu	37	9	37746714	37746714	+	Missense_Mutation	SNP	C	C	T	rs138292555	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:37746714C>T	ENST00000539465.1	+	16	5278	c.4685C>T	c.(4684-4686)aCg>aTg	p.T1562M	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.T1562M			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1562						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACGGCCCTCACGGCCGCCGTG	0.592													C|||	5	0.000998403	0	0	5008	,	,		15176	0		0	False		,,,				2504	0.0051					ENST00000539465.1											0			NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4684-4686)aCg>aTg	FERM and PDZ domain containing 1	C	MET/THR	0,4406		0,0,2203	93	98	97		4685	5.7	1	9	dbSNP_134	97	7,8589	5.0+/-18.6	0,7,4291	yes	missense	FRMPD1	NM_014907.2	81	0,7,6494	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	1562/1579	37746714	7,12995	2203	4298	6501	SO:0001583	missense	22844				cytoskeleton|cytosol|plasma membrane		g.chr9:37746714C>T	AB023184	AB023184	CCDS6612.1	CCDS6612.1	9p13.1	2008-02-05			2008-02-05			ENSG00000070601	ENSG00000070601	ENSG00000070601	ENSG00000070601				29159	29159	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10231032	10231032	Standard	Standard	NM_014907	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	uc004aag.1	Q5SYB0	Q5SYB0	OTTHUMG00000019927	OTTHUMG00000019927	ENST00000539465.1:c.4685C>T	9.37:g.37746714C>T	ENSP00000444411:p.Thr1562Met		FRMPD1_ENST00000377765.3_Missense_Mutation_p.T1562M|RP11-613M10.9_ENST00000540557.1_Intron	p.T1562M			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	5278	+			1562		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4685C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719469	0.89205	0.0	8.14E-4	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.12039	2.72;2.72	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01894	-1.1252	10	0.87932	D	0	-5.1585	17.3577	0.87341	0.0:1.0:0.0:0.0	.	1562	Q5SYB0	FRPD1_HUMAN	M	1562	ENSP00000366995:T1562M;ENSP00000444411:T1562M	ENSP00000366995:T1562M	T	+	2	0	0	FRMPD1	37736714	37736714	0.995000	0.38212	0.965000	0.40720	0.905000	0.53344	3.297000	0.51810	2.704000	0.92352	0.655000	0.94253	ACG		0.592	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		-5.859878	-1	-1	142	142	NM_014907		7	15.118404	15.118404	100	0.065421	0	0	0	1	0	7	100	0.065421	T	37746714	C	T	37746714	3	4	80	1	0	0	0	0	1	0	0	0	6057	536	19	1	4743	1	FRMPD1	9	37746714	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3653421	37746714	103466717	242	1757											
GNAQ	2776	broad.mit.edu	37	9	80412493	80412493	+	Missense_Mutation	SNP	C	C	T	rs397514698		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:80412493C>T	ENST00000286548.4	-	4	770	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183			R -> Q (in SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control). {ECO:0000269|PubMed:22307269, ECO:0000269|PubMed:23656586}.		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.R183Q(9)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GGTGGGGACTCGAACTCTAAG	0.468			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	9	Substitution - Missense(9)	eye(8)|meninges(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(547-549)cGa>cAa	guanine nucleotide binding protein (G protein), q polypeptide						154	118	130					9																	80412493		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80412493C>T			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.548G>A	9.37:g.80412493C>T	ENSP00000286548:p.Arg183Gln		GNAQ_ENST00000397476.3_5'UTR	p.R183Q	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			4	770	-			183		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.548G>A	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	37	6.263420	0.97421	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	D;D	0.91740	-2.9;-2.9	5.88	5.88	0.94601	5.88	5.88	0.94601	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.96547	3.84	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.98057	1.0391	10	0.87932	D	0	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	183	P50148	GNAQ_HUMAN	Q	183;154	ENSP00000286548:R183Q;ENSP00000391501:R154Q	ENSP00000286548:R183Q	R	-	2	0	0	GNAQ	79602313	79602313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.048000	0.71046	2.778000	0.95560	0.655000	0.94253	CGA		0.468	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		-2.042747	9	9	66	66	NM_002072		4	8.554581	8.554581	52	0.071429	0	0	0	1	0	4	52	0.071429	T	80412493	C	T	80412493	3	4	80	1	0	0	0	0	1	0	0	0	6509	884	31	1	547	1	GNAQ	9	80412493	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	42665779	80412493	60800938	243	1758											
DAPK1	1612	broad.mit.edu	37	9	90219978	90219978	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:90219978C>T	ENST00000408954.3	+	3	507	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	DAPK1_ENST00000472284.1_Missense_Mutation_p.R58C|DAPK1_ENST00000469640.2_Missense_Mutation_p.R58C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R58C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R58C	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R58C(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGGTGTGAGCCGCGAGGACAT	0.562									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2											2	Substitution - Missense(2)	large_intestine(2)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(172-174)Cgc>Tgc	death-associated protein kinase 1						62	64	63					9																	90219978		2193	4298	6491	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90219978C>T	X76104	X76104	CCDS43842.1	CCDS43842.1	9q34.1	2013-01-10			2013-01-10			ENSG00000196730	ENSG00000196730	ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	2674	2674	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600831	600831						8530096	8530096	Standard	Standard	XM_005251757	XM_005251757		Approved	DAPK	uc004apd.3	uc004apd.3	P53355	P53355	OTTHUMG00000020150	OTTHUMG00000020150	ENST00000408954.3:c.172C>T	9.37:g.90219978C>T	ENSP00000386135:p.Arg58Cys		DAPK1_ENST00000472284.1_Missense_Mutation_p.R58C|DAPK1_ENST00000408954.3_Missense_Mutation_p.R58C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R58C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R58C	p.R58C			P53355	DAPK1_HUMAN			3	547	+			58	Protein kinase.	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.172C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179700	0.78564	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.04	5.04	0.67666	5.04	5.04	0.67666	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	0.46145	D	0.000308	D	0.83839	0.5341	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.85130	0.997;0.969;0.853	D	0.86445	0.1769	10	0.87932	D	0	.	17.55	0.87873	0.0:1.0:0.0:0.0	.	58;58;58	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	C	58	ENSP00000350785:R58C;ENSP00000417076:R58C;ENSP00000418885:R58C;ENSP00000386135:R58C;ENSP00000419026:R58C	ENSP00000350785:R58C	R	+	1	0	0	DAPK1	89409798	89409798	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.127000	0.42035	2.628000	0.89032	0.511000	0.50034	CGC		0.562	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		22.595497	0	0	44	44	NM_004938		8	22.770501	22.770501	12	0.4	0	0	0	1	0	8	12	0.4	T	90219978	C	T	90219978	3	4	80	1	0	0	0	0	1	0	0	0	4235	652	23	1	178	1	DAPK1	9	90219978	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9807485	90219978	50993453	244	1759											
DAPK1	1612	broad.mit.edu	37	9	90321557	90321557	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:90321557G>A	ENST00000408954.3	+	26	3906	c.3571G>A	c.(3571-3573)Ggc>Agc	p.G1191S	DAPK1_ENST00000472284.1_Missense_Mutation_p.G1191S|DAPK1_ENST00000469640.2_Missense_Mutation_p.G1216S|DAPK1_ENST00000358077.5_Missense_Mutation_p.G1191S|DAPK1_ENST00000491893.1_Missense_Mutation_p.G1125S	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1191					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGTCAACCACGGCCAGGGCAT	0.642									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2											0			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(3646-3648)Ggc>Agc	death-associated protein kinase 1						27	31	29					9																	90321557		2161	4252	6413	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321557G>A	X76104	X76104	CCDS43842.1	CCDS43842.1	9q34.1	2013-01-10			2013-01-10			ENSG00000196730	ENSG00000196730	ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	2674	2674	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600831	600831						8530096	8530096	Standard	Standard	XM_005251757	XM_005251757		Approved	DAPK	uc004apd.3	uc004apd.3	P53355	P53355	OTTHUMG00000020150	OTTHUMG00000020150	ENST00000408954.3:c.3571G>A	9.37:g.90321557G>A	ENSP00000386135:p.Gly1191Ser		DAPK1_ENST00000472284.1_Missense_Mutation_p.G1191S|DAPK1_ENST00000408954.3_Missense_Mutation_p.G1191S|DAPK1_ENST00000358077.5_Missense_Mutation_p.G1191S|DAPK1_ENST00000491893.1_Missense_Mutation_p.G1125S	p.G1216S			P53355	DAPK1_HUMAN			27	4021	+			1191		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.3646G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849831	0.91277	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.69040	-0.33;-0.33;-0.34;-0.33;-0.37	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.52532	D	0.000061	T	0.81307	0.4795	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.962;0.978;0.962	T	0.82299	-0.0526	10	0.66056	D	0.02	.	19.4155	0.94694	0.0:0.0:1.0:0.0	.	1125;1191;1191	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	S	1191;1191;1216;1191;1125	ENSP00000350785:G1191S;ENSP00000417076:G1191S;ENSP00000418885:G1216S;ENSP00000386135:G1191S;ENSP00000419026:G1125S	ENSP00000350785:G1191S	G	+	1	0	0	DAPK1	89511377	89511377	1.000000	0.71417	0.993000	0.49108	0.885000	0.51271	9.869000	0.99810	2.589000	0.87451	0.561000	0.74099	GGC		0.642	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		42.079985	-7	-7	19	19	NM_004938		13	42.476994	42.476994	7	0.65	0	0	0	1	0	13	7	0.65	A	90321557	G	A	90321557	3	1	80	1	0	0	0	0	1	0	0	0	4235	1116	39	1	3669	1	DAPK1	9	90321557	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	101579	90321557	50891874	245	1760											
ROR2	4920	hgsc.bcm.edu	37	9	94495610	94495610	+	Missense_Mutation	SNP	C	C	T	rs55737262	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:94495610C>T	ENST00000375708.3	-	6	929	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.R104Q	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	244	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.		R -> Q (in dbSNP:rs55737262). {ECO:0000269|PubMed:17344846}.		cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTTGGGTGTCCGGGAGCGCGC	0.647													C|||	3	0.000599042	0	0	5008	,	,		11566	0		0	False		,,,				2504	0.0031																0																	41	39	39					9																	94495610		2203	4300	6503	SO:0001583	missense	4920							M97639	M97639	CCDS6691.1	CCDS6691.1	9q22	2013-01-11			2013-01-11			ENSG00000169071	ENSG00000169071	ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	"Immunoglobulin superfamily / I-set domain containing"	10257	10257	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602337	602337		NTRKR2, BDB, BDB1		NTRKR2, BDB, BDB1		1334494, 10700182	1334494, 10700182	Standard	Standard	NM_004560	NM_004560		Approved		uc004arj.2	uc004arj.2	Q01974	Q01974	OTTHUMG00000020211	OTTHUMG00000020211	ENST00000375708.3:c.731G>A	9.37:g.94495610C>T	ENSP00000364860:p.Arg244Gln																	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37		CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851177	0.32699	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.75821	0.6;-0.97	4.44	4.44	0.53790	4.44	4.44	0.53790	Frizzled domain (2);Kringle (1);	0.000000	0.38164	N	0.001794	T	0.61664	0.2365	L	0.46157	1.445	0.50467	D	0.99987	B;B;B	0.29115	0.112;0.233;0.112	B;B;B	0.18561	0.015;0.02;0.022	T	0.56786	-0.7921	10	0.13108	T	0.6	.	10.8451	0.46739	0.0:0.9142:0.0:0.0858	rs55737262	244;244;104	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	Q	104;244	ENSP00000364867:R104Q;ENSP00000364860:R244Q	ENSP00000364860:R244Q	R	-	2	0	0	ROR2	93535431	93535431	0.129000	0.22400	1.000000	0.80357	0.900000	0.52787	3.497000	0.53295	2.306000	0.77630	0.561000	0.74099	CGG		0.647	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			-9	-9	19	19			4			14							4	14		T	94495610	C	T	94495610	3	4	80	1	0	0	0	0	1	0	0	0	13527	652	23	1	2116	1	ROR2	9	94495610	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4174053	94495610	46717821	246	1761											
ZNF367	195828	broad.mit.edu	37	9	99157146	99157146	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:99157146C>T	ENST00000375256.4	-	3	946	c.650G>A	c.(649-651)cGt>cAt	p.R217H		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	217					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GGTGTGAAGACGCTGATGTGT	0.388																																						ENST00000375256.4											0			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(649-651)cGt>cAt	zinc finger protein 367						96	88	91					9																	99157146		2203	4300	6503	SO:0001583	missense	195828			regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99157146C>T	AK091289	AK091289	CCDS6718.1	CCDS6718.1	9q22	2008-05-02			2008-05-02			ENSG00000165244	ENSG00000165244	ENSG00000165244	ENSG00000165244		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	18320	18320	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610160	610160								Standard	Standard	NM_153695	NM_153695		Approved	FLJ33970	uc004awf.3	uc004awf.3	Q7RTV3	Q7RTV3	OTTHUMG00000020295	OTTHUMG00000020295	ENST00000375256.4:c.650G>A	9.37:g.99157146C>T	ENSP00000364405:p.Arg217His			p.R217H	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			3	946	-		Acute lymphoblastic leukemia(62;0.0167)	217		Q6Q7C8	Missense_Mutation	SNP	ENST00000375256.4	37	c.650G>A	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334771	0.95758	.	.	ENSG00000165244	ENST00000375256	T	0.25749	1.78	5.1	5.1	0.69264	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.53613	-0.8414	10	0.87932	D	0	-10.4563	18.7044	0.91632	0.0:1.0:0.0:0.0	.	217;217	Q7RTV3-2;Q7RTV3	.;ZN367_HUMAN	H	217	ENSP00000364405:R217H	ENSP00000364405:R217H	R	-	2	0	0	ZNF367	98196967	98196967	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.289000	0.78701	2.653000	0.90120	0.650000	0.86243	CGT		0.388	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1		65.065571	12	12	86	86			21	65.485682	65.485682	31	0.403846	0	0	0	1	0	21	31	0.403846	T	99157146	C	T	99157146	3	4	80	1	0	0	0	0	1	0	0	0	17868	536	19	1	414	1	ZNF367	9	99157146	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4661536	99157146	42056285	247	1762											
KIAA1529	100499483	broad.mit.edu	37	9	100071854	100071854	+	Silent	SNP	C	C	T	rs147529206		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:100071854C>T	ENST00000357054.1	+	17	1712	c.777C>T	c.(775-777)aaC>aaT	p.N259N	CCDC180_ENST00000375202.2_Silent_p.N120N|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Silent_p.N120N|CCDC180_ENST00000395220.1_Silent_p.N259N|CCDC180_ENST00000411667.2_Silent_p.N120N|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	259						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GCCTCCCCAACGACTGGATCA	0.537																																						ENST00000375202.2											0										c.(358-360)aaC>aaT	coiled-coil domain containing 180	C		0,4406		0,0,2203	95	73	81		360	-6.9	0.2	9	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C9orf174	NM_020893.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		120/1702	100071854	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	100499483						g.chr9:100071854C>T	AK123391	AK123391	CCDS35077.1, CCDS35077.2	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816		ENSG00000197816				29303	29303	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"	"Behcet's Disease Associated Gene 1"			"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174	"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	10819331	Standard	Standard	NM_020893	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	uc004axg.2	Q9P1Z9	Q9P1Z9	OTTHUMG00000167001	OTTHUMG00000167001	ENST00000357054.1:c.777C>T	9.37:g.100071854C>T			RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.N259N|CCDC180_ENST00000411667.2_Silent_p.N120N|CCDC180_ENST00000395220.1_Silent_p.N259N|CCDC180_ENST00000529487.1_Silent_p.N120N|CCDC180_ENST00000460482.2_3'UTR	p.N120N							17	1712	+					Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.360C>T																																																																																										0.537	CCDC180-201	KNOWN	basic	protein_coding	protein_coding			23.262803	-14	-14	37	37	NM_020893		9	24.638228	24.638228	23	0.28125	0	0	0	1	0	9	23	0.28125	T	100071854	C	T	100071854	2	4	80	1	0	0	0	0	0	0	0	1	8240	535	19	1		1	KIAA1529	9	100071854	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	914708	100071854	41141577	248	1763											
RAD23B	5887	broad.mit.edu	37	9	110084367	110084367	+	Missense_Mutation	SNP	C	C	T	rs372514872		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:110084367C>T	ENST00000358015.3	+	7	1136	c.785C>T	c.(784-786)aCg>aTg	p.T262M	RAD23B_ENST00000416373.2_Missense_Mutation_p.T190M	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	262	Poly-Thr.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCAGCAACTACGACAGCAACA	0.488								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3											0			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(784-786)aCg>aTg	RAD23 homolog B (S. cerevisiae)	C	MET/THR	0,4406		0,0,2203	63	67	65		785	5.2	0.7	9		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAD23B	NM_002874.4	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	262/410	110084367	1,13005	2203	4300	6503	SO:0001583	missense	5887			nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110084367C>T			CCDS6769.1, CCDS59138.1	CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318	ENSG00000119318	ENSG00000119318				9813	9813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	"XP-C repair complementing protein", "XP-C repair complementing complex 58 kDa"	600062	600062	"RAD23 (S. cerevisiae) homolog B"		"RAD23 (S. cerevisiae) homolog B"			7851894, 8168482	7851894, 8168482	Standard	Standard	NM_002874	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	uc004bde.3	P54727	P54727	OTTHUMG00000020446	OTTHUMG00000020446	ENST00000358015.3:c.785C>T	9.37:g.110084367C>T	ENSP00000350708:p.Thr262Met		RAD23B_ENST00000416373.2_Missense_Mutation_p.T190M	p.T262M	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			7	1136	+			262	Poly-Thr.	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.785C>T	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770683	0.69992	0.0	1.16E-4	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.18657	2.21;2.2	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.210963	0.47852	D	0.000217	T	0.34250	0.0891	L	0.27053	0.805	0.50171	D	0.999857	D;P;D	0.89917	1.0;0.908;0.995	D;B;P	0.75020	0.985;0.394;0.661	T	0.04281	-1.0963	10	0.41790	T	0.15	-17.36	17.8341	0.88691	0.0:1.0:0.0:0.0	.	241;262;262	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	M	262;190	ENSP00000350708:T262M;ENSP00000405623:T190M	ENSP00000350708:T262M	T	+	2	0	0	RAD23B	109124188	109124188	0.882000	0.30256	0.747000	0.31113	0.714000	0.41099	3.929000	0.56514	2.579000	0.87056	0.555000	0.69702	ACG		0.488	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1		7.882316	19	19	63	63	NM_002874		7	16.068228	16.068228	51	0.12069	0	0	0	1	0	7	51	0.12069	T	110084367	C	T	110084367	3	4	80	1	0	0	0	0	1	0	0	0	12983	536	19	1	811	1	RAD23B	9	110084367	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10012513	110084367	31129064	249	1764											
KIAA1958	158405	broad.mit.edu	37	9	115421680	115421680	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:115421680C>T	ENST00000337530.6	+	4	1778	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	KIAA1958_ENST00000536272.1_Silent_p.V522V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	494										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATGCAGGTGTCGGCTTTTCCA	0.582																																						ENST00000337530.6											0			endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1480-1482)gtC>gtT	KIAA1958						49	46	47					9																	115421680		2203	4300	6503	SO:0001819	synonymous_variant	158405						g.chr9:115421680C>T	AB075838	AB075838	CCDS35108.1, CCDS69642.1	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			2009-09-22			ENSG00000165185	ENSG00000165185	ENSG00000165185	ENSG00000165185				23427	23427	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001287038	NM_001287038		Approved	FLJ39294	uc004bgf.1	uc004bgf.1	Q8N8K9	Q8N8K9	OTTHUMG00000020508	OTTHUMG00000020508	ENST00000337530.6:c.1482C>T	9.37:g.115421680C>T			KIAA1958_ENST00000536272.1_Silent_p.V522V	p.V494V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	1778	+			494		B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	c.1482C>T	CCDS35108.1																																																																																									0.582	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1		28.638649	4	4	48	48	NM_133465		10	29.927158	29.927158	24	0.294118	0	0	0	1	0	10	24	0.294118	T	115421680	C	T	115421680	2	4	80	1	0	0	0	0	0	0	0	1	8264	871	31	1		1	KIAA1958	9	115421680	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5337313	115421680	25791751	250	1765											
OR5C1	392391	broad.mit.edu	37	9	125551867	125551867	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:125551867C>T	ENST00000373680.2	+	1	718	c.656C>T	c.(655-657)aCg>aTg	p.T219M		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TTAGCTATCACGGTGTCTTAT	0.597																																						ENST00000373680.2											0			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(655-657)aCg>aTg	olfactory receptor, family 5, subfamily C, member 1						85	80	82					9																	125551867		2203	4300	6503	SO:0001583	missense	392391			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551867C>T	AF399514	AF399514	CCDS35131.1	CCDS35131.1	9q34.2	2012-08-09			2012-08-09			ENSG00000148215	ENSG00000148215	ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8331	8331	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						OR5C2P		OR5C2P				Standard	Standard	NM_001001923	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	uc011lzd.2	Q8NGR4	Q8NGR4	OTTHUMG00000020622	OTTHUMG00000020622	ENST00000373680.2:c.656C>T	9.37:g.125551867C>T	ENSP00000362784:p.Thr219Met			p.T219M	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	718	+			219		B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.656C>T	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	3.407	-0.121022	0.06838	.	.	ENSG00000148215	ENST00000373680	T	0.00084	8.75	5.26	-1.88	0.07713	5.26	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	0.215125	0.23211	U	0.050663	T	0.00073	0.0002	N	0.16066	0.365	0.09310	N	1	P	0.45594	0.862	B	0.36418	0.224	T	0.49762	-0.8905	10	0.56958	D	0.05	.	11.0123	0.47669	0.0:0.3217:0.0:0.6783	.	219	Q8NGR4	OR5C1_HUMAN	M	219	ENSP00000362784:T219M	ENSP00000362784:T219M	T	+	2	0	0	OR5C1	124591688	124591688	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	0.348000	0.20031	-0.590000	0.05866	0.655000	0.94253	ACG		0.597	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1		56.913817	-13	-13	59	59			19	57.545134	57.545134	31	0.38	0	0	0	1	0	19	31	0.38	T	125551867	C	T	125551867	3	4	80	1	0	0	0	0	1	0	0	0	11153	536	19	1	658	1	OR5C1	9	125551867	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10130187	125551867	15661564	251	1766											
LRRC8A	56262	broad.mit.edu	37	9	131670351	131670351	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:131670351C>T	ENST00000259324.5	+	3	1431	c.908C>T	c.(907-909)aCg>aTg	p.T303M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T303M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T303M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	303					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GAGAGCCTGACGGGCTACCGC	0.547																																						ENST00000259324.5											0			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(907-909)aCg>aTg	leucine rich repeat containing 8 family, member A						240	182	202					9																	131670351		2203	4300	6503	SO:0001583	missense	56262			pre-B cell differentiation	integral to membrane		g.chr9:131670351C>T	AB037858	AB037858	CCDS35155.1	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802	ENSG00000136802	ENSG00000136802				19027	19027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608360	608360	"leucine rich repeat containing 8"	LRRC8	"leucine rich repeat containing 8"	LRRC8				Standard	Standard	NM_001127244	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	uc010myp.3	Q8IWT6	Q8IWT6	OTTHUMG00000020766	OTTHUMG00000020766	ENST00000259324.5:c.908C>T	9.37:g.131670351C>T	ENSP00000259324:p.Thr303Met		LRRC8A_ENST00000372599.3_Missense_Mutation_p.T303M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T303M	p.T303M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1431	+			303		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.908C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956518	0.53293	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.52983	0.64;0.64;0.64	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.78456	2.415	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.73597	-0.3932	10	0.56958	D	0.05	.	17.4817	0.87674	0.0:1.0:0.0:0.0	.	303	Q8IWT6	LRC8A_HUMAN	M	303	ENSP00000361682:T303M;ENSP00000361680:T303M;ENSP00000259324:T303M	ENSP00000259324:T303M	T	+	2	0	0	LRRC8A	130710172	130710172	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	7.818000	0.86416	2.365000	0.80145	0.462000	0.41574	ACG		0.547	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2		115.041408	-1	-1	85	85	NM_019594		38	115.206988	115.206988	46	0.452381	0	0	0	1	0	38	46	0.452381	T	131670351	C	T	131670351	3	4	80	1	0	0	0	0	1	0	0	0	9021	536	19	1	910	1	LRRC8A	9	131670351	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6118484	131670351	9543080	252	1767											
LRRC8A	56262	broad.mit.edu	37	9	131670589	131670589	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:131670589C>T	ENST00000259324.5	+	3	1669	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	LRRC8A_ENST00000372599.3_Silent_p.Y382Y|LRRC8A_ENST00000372600.4_Silent_p.Y382Y	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	382					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TTGACCAATACGACCCGCTCT	0.562																																						ENST00000259324.5											0			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1144-1146)taC>taT	leucine rich repeat containing 8 family, member A						132	112	119					9																	131670589		2203	4300	6503	SO:0001819	synonymous_variant	56262			pre-B cell differentiation	integral to membrane		g.chr9:131670589C>T	AB037858	AB037858	CCDS35155.1	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802	ENSG00000136802	ENSG00000136802				19027	19027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608360	608360	"leucine rich repeat containing 8"	LRRC8	"leucine rich repeat containing 8"	LRRC8				Standard	Standard	NM_001127244	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	uc010myp.3	Q8IWT6	Q8IWT6	OTTHUMG00000020766	OTTHUMG00000020766	ENST00000259324.5:c.1146C>T	9.37:g.131670589C>T			LRRC8A_ENST00000372599.3_Silent_p.Y382Y|LRRC8A_ENST00000372600.4_Silent_p.Y382Y	p.Y382Y	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1669	+			382		Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.1146C>T	CCDS35155.1																																																																																									0.562	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2		56.982212	-21	-21	72	72	NM_019594		20	58.457144	58.457144	40	0.333333	0	0	0	1	0	20	40	0.333333	T	131670589	C	T	131670589	2	4	80	1	0	0	0	0	0	0	0	1	9021	547	19	1		1	LRRC8A	9	131670589	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	238	131670589	9542842	253	1768											
C9orf7	11094	broad.mit.edu	37	9	136328663	136328663	+	Silent	SNP	C	C	T	rs113031528	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:136328663C>T	ENST00000316948.4	+	2	260	c.180C>T	c.(178-180)gcC>gcT	p.A60A	CACFD1_ENST00000542192.1_Silent_p.A60A|CACFD1_ENST00000489519.1_3'UTR|CACFD1_ENST00000291722.7_Silent_p.A60A|CACFD1_ENST00000540581.1_Silent_p.A60A	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1	60					synaptic vesicle endocytosis (GO:0048488)	integral component of synaptic vesicle membrane (GO:0030285)	calcium channel activity (GO:0005262)										ACATTGCGGCCGGCGTGTGGA	0.622													C|||	2	0.000399361	0	0	5008	,	,		19339	0.002		0	False		,,,				2504	0					ENST00000316948.4											0										c.(178-180)gcC>gcT	calcium channel flower domain containing 1	C	,,,	1,4405	2.1+/-5.4	0,1,2202	136	124	128		180,180,180,180	-9.6	0.5	9	dbSNP_132	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	C9orf7	NM_001135775.2,NM_001242369.1,NM_001242370.1,NM_017586.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	60/131,60/234,60/192,60/173	136328663	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11094				integral to membrane		g.chr9:136328663C>T			CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	9q34	2012-03-06	2012-03-06	2012-03-06	2012-03-06	2012-03-06	2012-03-06	ENSG00000160325	ENSG00000160325	ENSG00000160325	ENSG00000160325				1365	1365	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613104	613104	"chromosome 9 open reading frame 7"	C9orf7	"chromosome 9 open reading frame 7"	C9orf7		19737521	19737521	Standard	Standard	NM_001242370	NM_001242370		Approved	D9S2135, flower	uc011mdh.1	uc011mdh.1	Q9UGQ2	Q9UGQ2	OTTHUMG00000020875	OTTHUMG00000020875	ENST00000316948.4:c.180C>T	9.37:g.136328663C>T			CACFD1_ENST00000291722.7_Silent_p.A60A|CACFD1_ENST00000540581.1_Silent_p.A60A|CACFD1_ENST00000489519.1_3'UTR|CACFD1_ENST00000542192.1_Silent_p.A60A	p.A60A	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN			2	260	+			60		B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6	Silent	SNP	ENST00000316948.4	37	c.180C>T	CCDS6974.1																																																																																									0.622	CACFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054915.1		35.356487	-23	-23	110	110	NM_017586		16	41.252076	41.252076	60	0.210526	0	0	0	1	0	16	60	0.210526	T	136328663	C	T	136328663	2	4	80	1	0	0	0	0	0	0	0	1	2493	639	23	1		1	C9orf7	9	136328663	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4658074	136328663	4884768	254	1769											
COL5A1	1289	broad.mit.edu	37	9	137697060	137697060	+	Splice_Site	SNP	G	G	A	rs372844807		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:137697060G>A	ENST00000371817.3	+	41	3672	c.3258G>A	c.(3256-3258)gcG>gcA	p.A1086A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1086	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGGCCCTGCGGTGAGTCAAA	0.602																																						ENST00000371817.3											0			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(3256-3258)gcG>gcA	collagen, type V, alpha 1	G		1,4405	2.1+/-5.4	0,1,2202	80	79	79		3258	3.2	1	9		79	0,8600		0,0,4300	no	coding-synonymous-near-splice	COL5A1	NM_000093.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1086/1839	137697060	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1289			axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137697060G>A	D90279	D90279	CCDS6982.1, CCDS75932.1	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			2014-09-17			ENSG00000130635	ENSG00000130635	ENSG00000130635	ENSG00000130635		"Collagens"	"Collagens"	2209	2209	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	"alpha 1 type V collagen"	120215	120215						1572660	1572660	Standard	Standard	NM_001278074	NM_001278074		Approved		uc031tfl.1	uc031tfl.1	P20908	P20908	OTTHUMG00000020891	OTTHUMG00000020891	ENST00000371817.3:c.3258+1G>A	9.37:g.137697060G>A				p.A1086A	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	41	3672	+		Myeloproliferative disorder(178;0.0341)	1086	Triple-helical region.	Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	37	c.3258G>A	CCDS6982.1																																																																																									0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		62.023428	-6	-6	59	59	NM_000093	Silent	19	62.045121	62.045121	21	0.475	0	0	0	1	0	19	21	0.475	A	137697060	G	A	137697060	5	1	80	1	0	0	0	0	0	0	1	0	3696	1130	39	1	3420	1	COL5A1	9	137697060	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1368397	137697060	3516371	255	1770											
COL5A1	1289	broad.mit.edu	37	9	137712052	137712052	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:137712052G>A	ENST00000371817.3	+	58	4951	c.4537G>A	c.(4537-4539)Ggt>Agt	p.G1513S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1513	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCTCCTCCGGTCCTAAGGG	0.637																																						ENST00000371817.3											0			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4537-4539)Ggt>Agt	collagen, type V, alpha 1						70	66	68					9																	137712052		2203	4300	6503	SO:0001583	missense	1289			axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137712052G>A	D90279	D90279	CCDS6982.1, CCDS75932.1	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			2014-09-17			ENSG00000130635	ENSG00000130635	ENSG00000130635	ENSG00000130635		"Collagens"	"Collagens"	2209	2209	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	"alpha 1 type V collagen"	120215	120215						1572660	1572660	Standard	Standard	NM_001278074	NM_001278074		Approved		uc031tfl.1	uc031tfl.1	P20908	P20908	OTTHUMG00000020891	OTTHUMG00000020891	ENST00000371817.3:c.4537G>A	9.37:g.137712052G>A	ENSP00000360882:p.Gly1513Ser			p.G1513S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	58	4951	+		Myeloproliferative disorder(178;0.0341)	1513	Triple-helical region.	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4537G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634724	0.47049	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.99607	-6.27	4.69	3.78	0.43462	4.69	3.78	0.43462	.	0.000000	0.85682	U	0.000000	D	0.99687	0.9882	H	0.94503	3.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97889	1.0296	10	0.87932	D	0	.	12.4942	0.55918	0.0821:0.0:0.9179:0.0	.	1513	P20908	CO5A1_HUMAN	S	1513;50	ENSP00000360882:G1513S	ENSP00000347458:G50S	G	+	1	0	0	COL5A1	136851873	136851873	1.000000	0.71417	0.385000	0.26158	0.170000	0.22686	9.713000	0.98740	0.946000	0.37632	0.643000	0.83706	GGT		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		17.308735	-15	-15	48	48	NM_000093		7	19.449321	19.449321	24	0.225806	0	0	0	1	0	7	24	0.225806	A	137712052	G	A	137712052	3	1	80	1	0	0	0	0	1	0	0	0	3696	1116	39	1	4767	1	COL5A1	9	137712052	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14992	137712052	3501379	256	1771											
KCNT1	57582	broad.mit.edu	37	9	138651621	138651621	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:138651621C>T	ENST00000263604.3	+	11	894	c.894C>T	c.(892-894)taC>taT	p.Y298Y	KCNT1_ENST00000490355.2_Silent_p.Y298Y|KCNT1_ENST00000487664.1_Silent_p.Y272Y|KCNT1_ENST00000486577.2_Silent_p.Y278Y|KCNT1_ENST00000488444.2_Silent_p.Y298Y|KCNT1_ENST00000298480.5_Silent_p.Y317Y|KCNT1_ENST00000371757.2_Silent_p.Y317Y|KCNT1_ENST00000491806.2_Silent_p.Y284Y			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	298					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGTGGGCTACGGTGACGTCA	0.642																																						ENST00000298480.5											0			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(949-951)taC>taT	potassium channel, subfamily T, member 1						141	103	116					9																	138651621		2202	4300	6502	SO:0001819	synonymous_variant	57582				membrane	binding|calcium-activated potassium channel activity	g.chr9:138651621C>T	AB037843	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			2012-07-05			ENSG00000107147	ENSG00000107147	ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	18865	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608167	608167						10718198, 16382103	10718198, 16382103	Standard	Standard	NM_020822	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	uc011mdq.2	Q5JUK3	Q5JUK3	OTTHUMG00000020917	OTTHUMG00000020917	ENST00000263604.3:c.894C>T	9.37:g.138651621C>T			KCNT1_ENST00000371757.2_Silent_p.Y317Y|KCNT1_ENST00000263604.3_Silent_p.Y298Y|KCNT1_ENST00000488444.2_Silent_p.Y298Y|KCNT1_ENST00000486577.2_Silent_p.Y278Y|KCNT1_ENST00000490355.2_Silent_p.Y298Y|KCNT1_ENST00000491806.2_Silent_p.Y284Y|KCNT1_ENST00000487664.1_Silent_p.Y272Y	p.Y317Y			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	11	1025	+		Myeloproliferative disorder(178;0.0821)	317		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.951C>T																																																																																										0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			58.203150	-9	-9	44	44	NM_020822		19	58.364692	58.364692	14	0.575758	0	0	0	1	0	19	14	0.575758	T	138651621	C	T	138651621	2	4	80	1	0	0	0	0	0	0	0	1	8091	547	19	1		1	KCNT1	9	138651621	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	939569	138651621	2561810	257	1772											
CAMSAP1	157922	broad.mit.edu	37	9	138713079	138713079	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:138713079C>T	ENST00000389532.4	-	11	3492	c.3428G>A	c.(3427-3429)cGg>cAg	p.R1143Q	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1154Q|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R865Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1143					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGTGGGCGTCCGAGGGTGGCT	0.607																																						ENST00000389532.4											0			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3427-3429)cGg>cAg	calmodulin regulated spectrin-associated protein 1						60	74	69					9																	138713079		2203	4300	6503	SO:0001583	missense	157922				cytoplasm|microtubule		g.chr9:138713079C>T	AJ519841	AJ519841	CCDS35176.2	CCDS35176.2	9q34.3	2008-02-05			2008-02-05			ENSG00000130559	ENSG00000130559	ENSG00000130559	ENSG00000130559				19946	19946	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613774	613774						12477932	12477932	Standard	Standard	NM_015447	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	uc004cgr.4	Q5T5Y3	Q5T5Y3	OTTHUMG00000020918	OTTHUMG00000020918	ENST00000389532.4:c.3428G>A	9.37:g.138713079C>T	ENSP00000374183:p.Arg1143Gln		CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1154Q|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R865Q	p.R1143Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3492	-			1143		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3428G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	7.177	0.588804	0.13812	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.12984	2.63;2.63;2.63	5.29	5.29	0.74685	5.29	5.29	0.74685	.	1.087730	0.06978	N	0.819294	T	0.12050	0.0293	L	0.48362	1.52	0.24121	N	0.995802	P;P	0.43094	0.762;0.799	B;B	0.30572	0.057;0.117	T	0.23332	-1.0191	10	0.87932	D	0	.	7.2277	0.26024	0.0:0.7903:0.0:0.2097	.	1143;1154	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	1143;865;1154	ENSP00000374183:R1143Q;ENSP00000312463:R865Q;ENSP00000386420:R1154Q	ENSP00000312463:R865Q	R	-	2	0	0	CAMSAP1	137852900	137852900	0.097000	0.21791	0.068000	0.19968	0.087000	0.18053	0.464000	0.21988	2.620000	0.88729	0.561000	0.74099	CGG		0.607	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2		99.126003	-20	-20	83	83	XM_351857		31	99.126003	99.126003	31	0.5	0	0	0	1	0	31	31	0.5	T	138713079	C	T	138713079	3	4	80	1	0	0	0	0	1	0	0	0	2611	652	23	1	1408	1	CAMSAP1	9	138713079	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	61458	138713079	2500352	258	1773											
SEC16A	9919	broad.mit.edu	37	9	139371003	139371003	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:139371003G>A	ENST00000371706.3	-	1	564	c.531C>T	c.(529-531)gcC>gcT	p.A177A	SEC16A_ENST00000431893.2_Silent_p.A177A|SEC16A_ENST00000290037.6_Silent_p.A177A|SEC16A_ENST00000313050.7_Silent_p.A355A			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	177					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGCCAGACCCGGCCCCAGCCC	0.602																																						ENST00000313050.7											0			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1063-1065)gcC>gcT	SEC16 homolog A (S. cerevisiae)						15	17	17					9																	139371003		1845	4089	5934	SO:0001819	synonymous_variant	9919			protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371003G>A	AK074565	AK074565	CCDS55351.1, CCDS75936.1	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396	ENSG00000148396	ENSG00000148396				29006	29006	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612854	612854	"KIAA0310"	KIAA0310	"KIAA0310"	KIAA0310		9205841	9205841	Standard	Standard	NM_014866	NM_014866		Approved	p250	uc004chx.3	uc004chx.3	O15027	O15027	OTTHUMG00000020932	OTTHUMG00000020932	ENST00000371706.3:c.531C>T	9.37:g.139371003G>A			SEC16A_ENST00000431893.2_Silent_p.A177A|SEC16A_ENST00000290037.6_Silent_p.A177A|SEC16A_ENST00000371706.3_Silent_p.A177A	p.A355A	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	1138	-		Myeloproliferative disorder(178;0.0511)	177		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.1065C>T																																																																																										0.602	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		19.319572	-11	-11	23	23	XM_088459		7	19.716319	19.716319	13	0.35	0	0	0	1	0	7	13	0.35	A	139371003	G	A	139371003	2	1	80	1	0	0	0	0	0	0	0	1	13986	1103	39	1		1	SEC16A	9	139371003	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	657924	139371003	1842428	259	1774											
SLC34A3	142680	broad.mit.edu	37	9	140127061	140127061	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:140127061C>T	ENST00000538474.1	+	4	434	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SLC34A3_ENST00000361134.2_Silent_p.A70A	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	70					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCGCGTGGCCGGCAGCGTCC	0.697																																						ENST00000538474.1											0			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(208-210)gcC>gcT	solute carrier family 34 (type II sodium/phosphate contransporter), member 3						34	38	37					9																	140127061		2199	4286	6485	SO:0001819	synonymous_variant	142680			cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140127061C>T	AB055000	AB055000	CCDS7038.1	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569	ENSG00000198569	ENSG00000198569		"Solute carriers"	"Solute carriers"	20305	20305	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609826	609826	"solute carrier family 34 (sodium phosphate), member 3"		"solute carrier family 34 (sodium phosphate), member 3"			11880379, 16358215, 16358214	11880379, 16358215, 16358214	Standard	Standard	NM_080877	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	uc004cmf.1	Q8N130	Q8N130	OTTHUMG00000131780	OTTHUMG00000131780	ENST00000538474.1:c.210C>T	9.37:g.140127061C>T			SLC34A3_ENST00000361134.2_Silent_p.A70A	p.A70A	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	4	434	+	all_cancers(76;0.0926)		70		A2BFA1	Silent	SNP	ENST00000538474.1	37	c.210C>T	CCDS7038.1																																																																																									0.697	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1		-0.208111	-10	-10	88	88	NM_080877		6	13.2878	13.2878	69	0.08	0	0	0	1	0	6	69	0.08	T	140127061	C	T	140127061	2	4	80	1	0	0	0	0	0	0	0	1	14569	639	23	1		1	SLC34A3	9	140127061	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	756058	140127061	1086370	260	1775											
KIAA1217	56243	broad.mit.edu	37	10	24810824	24810824	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:24810824C>T	ENST00000376454.3	+	12	2452	c.2422C>T	c.(2422-2424)Cgc>Tgc	p.R808C	KIAA1217_ENST00000307544.6_Missense_Mutation_p.R491C|KIAA1217_ENST00000376451.2_Missense_Mutation_p.R491C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R728C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R773C|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R773C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	808					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAAGCGTGTGCGCAGCATGAC	0.612																																						ENST00000376451.2											0			breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1471-1473)Cgc>Tgc	KIAA1217						61	56	58					10																	24810824		2203	4300	6503	SO:0001583	missense	56243			embryonic skeletal system development	cytoplasm		g.chr10:24810824C>T	BX640796	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			2009-09-16			ENSG00000120549	ENSG00000120549	ENSG00000120549	ENSG00000120549				25428	25428	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"sickle tail"	"sickle tail"								10574462	10574462	Standard	Standard	XM_005252500	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	uc001iru.4	Q5T5P2	Q5T5P2	OTTHUMG00000017824	OTTHUMG00000017824	ENST00000376454.3:c.2422C>T	10.37:g.24810824C>T	ENSP00000365637:p.Arg808Cys		KIAA1217_ENST00000376462.1_Missense_Mutation_p.R728C|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R808C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R773C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R491C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R773C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000430453.2_Intron	p.R491C			Q5T5P2	SKT_HUMAN			7	1731	+			808		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1471C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396720	0.83120	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.95	4.05	0.47172	5.95	4.05	0.47172	.	0.111662	0.64402	D	0.000011	T	0.74627	0.3741	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.987;0.999;0.996;0.999;0.999;0.998;0.992	T	0.77613	-0.2522	10	0.87932	D	0	.	15.2148	0.73258	0.2575:0.7425:0.0:0.0	.	773;773;491;491;491;491;808;808	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	C	728;773;773;491;808;773;623;491;491;491;491;491	ENSP00000365645:R728C;ENSP00000365639:R773C;ENSP00000392625:R773C;ENSP00000365637:R808C;ENSP00000365635:R773C;ENSP00000404798:R623C;ENSP00000302343:R491C;ENSP00000379722:R491C;ENSP00000365634:R491C;ENSP00000379723:R491C	ENSP00000302343:R491C	R	+	1	0	0	KIAA1217	24850830	24850830	1.000000	0.71417	0.971000	0.41717	0.893000	0.52053	1.522000	0.35921	0.796000	0.33947	0.563000	0.77884	CGC		0.612	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		54.846785	-1	-1	38	38	NM_019590		18	54.896917	54.896917	21	0.461538	0	0	0	1	0	18	21	0.461538	T	24810824	C	T	24810824	3	4	80	1	0	0	0	0	1	0	0	0	8216	768	27	1	2468	1	KIAA1217	10	24810824	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		24810824	110723923	261	1776											
KIAA1462	57608	broad.mit.edu	37	10	30318556	30318556	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:30318556C>T	ENST00000375377.1	-	3	622	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	174					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCTGACATTCGCAATTCTTC	0.547																																						ENST00000375377.1											0			breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(520-522)cGa>cAa	KIAA1462						258	254	255					10																	30318556		2095	4209	6304	SO:0001583	missense	57608						g.chr10:30318556C>T	AB040895	AB040895	CCDS41500.1	CCDS41500.1	10p12.1	2013-04-23			2013-04-23			ENSG00000165757	ENSG00000165757	ENSG00000165757	ENSG00000165757				29283	29283	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	"junctional protein associated with coronary artery disease"	614398	614398						10819331, 21884682	10819331, 21884682	Standard	Standard	NM_020848	NM_020848		Approved	JCAD	uc001iux.3	uc001iux.3	Q9P266	Q9P266	OTTHUMG00000017885	OTTHUMG00000017885	ENST00000375377.1:c.521G>A	10.37:g.30318556C>T	ENSP00000364526:p.Arg174Gln			p.R174Q	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	622	-			174		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.521G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858732	0.51376	.	.	ENSG00000165757	ENST00000375377	T	0.14266	2.52	5.36	4.35	0.52113	5.36	4.35	0.52113	.	0.241615	0.38959	N	0.001507	T	0.20170	0.0485	L	0.60455	1.87	0.31077	N	0.712407	D	0.76494	0.999	P	0.55871	0.786	T	0.18713	-1.0328	10	0.45353	T	0.12	-14.9531	2.987	0.05971	0.0:0.4948:0.307:0.1982	.	174	Q9P266	K1462_HUMAN	Q	174	ENSP00000364526:R174Q	ENSP00000364526:R174Q	R	-	2	0	0	KIAA1462	30358562	30358562	0.122000	0.22280	0.821000	0.32701	0.016000	0.09150	3.185000	0.50934	2.508000	0.84585	0.655000	0.94253	CGA		0.547	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1		2.853603	-43	-43	177	177	NM_020848		13	29.85558	29.85558	141	0.084416	0	0	0	1	0	13	141	0.084416	T	30318556	C	T	30318556	3	4	80	1	0	0	0	0	1	0	0	0	8234	884	31	1	3566	1	KIAA1462	10	30318556	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5507732	30318556	105216191	262	1777											
PARD3	56288	broad.mit.edu	37	10	34648125	34648125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:34648125G>A	ENST00000374789.3	-	14	2342	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*	PARD3_ENST00000374794.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.R673*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.R660*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R673*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000374768.1_Nonsense_Mutation_p.R111*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.R673*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.R616*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.R673*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.R390*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	673	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATCATTCCTCGTTTATTGCCT	0.378																																						ENST00000374789.3											0			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(2017-2019)Cga>Tga	par-3 family cell polarity regulator						220	202	208					10																	34648125		2203	4300	6503	SO:0001587	stop_gained	56288			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34648125G>A	AF252293	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498	ENSG00000148498	ENSG00000148498				16051	16051	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"		"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	10934474	Standard	Standard	NM_001184790	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	uc010qej.2	Q8TEW0	Q8TEW0	OTTHUMG00000017948	OTTHUMG00000017948	ENST00000374789.3:c.2017C>T	10.37:g.34648125G>A	ENSP00000363921:p.Arg673*		PARD3_ENST00000374768.1_Nonsense_Mutation_p.R111*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.R616*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.R660*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.R673*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.R673*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.R390*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R673*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.R673*	p.R673*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			14	2342	-		Breast(68;0.0707)	673	PDZ 3.	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	ENST00000374789.3	37	c.2017C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	42	9.710949	0.99245	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	.	.	.	5.74	4.81	0.61882	5.74	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8356	0.63408	0.0:0.0:0.725:0.275	.	.	.	.	X	660;616;673;673;673;616;660;616;660;673;673;390;111	.	ENSP00000341844:R673X	R	-	1	2	2	PARD3	34688131	34688131	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.847000	0.55895	2.719000	0.93026	0.655000	0.94253	CGA		0.378	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1		83.945150	-45	-45	155	155	NM_019619		29	86.470095	86.470095	61	0.322222	0	0	0	1	0	29	61	0.322222	A	34648125	G	A	34648125	4	1	80	1	0	0	0	0	0	1	0	0	11443	1153	40	1	2136	1	PARD3	10	34648125	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4329569	34648125	100886622	263	1778											
RET	5979	broad.mit.edu	37	10	43597982	43597982	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:43597982G>A	ENST00000355710.3	+	3	762	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	RET_ENST00000340058.5_Missense_Mutation_p.R177Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	177	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTCCGCATTCGGGAGAACCGA	0.617		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0			NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(529-531)cGg>cAg	ret proto-oncogene						91	74	80					10																	43597982		2203	4300	6503	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43597982G>A	BC004257	BC004257	CCDS7200.1, CCDS53525.1	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	"Cadherins / Cadherin-related"	9967	9967	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"cadherin-related family member 16"	"cadherin-related family member 16"	164761	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	2687772, 1611909	Standard	Standard	NM_020975	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	uc001jal.3	P07949	P07949	OTTHUMG00000018024	OTTHUMG00000018024	ENST00000355710.3:c.530G>A	10.37:g.43597982G>A	ENSP00000347942:p.Arg177Gln		RET_ENST00000340058.5_Missense_Mutation_p.R177Q	p.R177Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			3	762	+		Ovarian(717;0.0423)	177	Cadherin.	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.530G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633549	0.67015	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.52295	0.67;0.67	5.09	2.09	0.27110	5.09	2.09	0.27110	Cadherin (3);Cadherin-like (1);	0.255981	0.37669	N	0.001990	T	0.46889	0.1416	L	0.47716	1.5	0.21473	N	0.999677	D;D	0.63880	0.993;0.991	P;P	0.59288	0.855;0.774	T	0.24261	-1.0165	10	0.27082	T	0.32	.	3.1191	0.06385	0.2841:0.0:0.5116:0.2043	.	177;177	P07949;P07949-2	RET_HUMAN;.	Q	177	ENSP00000347942:R177Q;ENSP00000344798:R177Q	ENSP00000344798:R177Q	R	+	2	0	0	RET	42917988	42917988	0.971000	0.33674	0.200000	0.23457	0.955000	0.61496	2.823000	0.48081	1.076000	0.40961	0.655000	0.94253	CGG		0.617	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2		6.077642	4	4	41	41	NM_020975		4	10.473592	10.473592	28	0.125	0	0	0	1	0	4	28	0.125	A	43597982	G	A	43597982	3	1	80	1	0	0	0	0	1	0	0	0	13235	1116	39	1	540	1	RET	10	43597982	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8949857	43597982	91936765	264	1779											
CCAR1	55749	broad.mit.edu	37	10	70516034	70516034	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:70516034C>T	ENST00000265872.6	+	14	1749	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C	CCAR1_ENST00000543719.1_Missense_Mutation_p.R529C|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Missense_Mutation_p.R529C	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	544					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAACAGGTACCGTTTTGCAGA	0.423																																						ENST00000265872.6											0			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1630-1632)Cgt>Tgt	cell division cycle and apoptosis regulator 1						106	103	104					10																	70516034		2203	4300	6503	SO:0001583	missense	55749			apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70516034C>T	AY249140	AY249140	CCDS7282.1, CCDS60547.1	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			2004-02-19			ENSG00000060339	ENSG00000060339	ENSG00000060339	ENSG00000060339				24236	24236	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612569	612569						12816952	12816952	Standard	Standard	NM_018237	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	uc001joo.3	Q8IX12	Q8IX12	OTTHUMG00000018361	OTTHUMG00000018361	ENST00000265872.6:c.1630C>T	10.37:g.70516034C>T	ENSP00000265872:p.Arg544Cys		CCAR1_ENST00000543719.1_Missense_Mutation_p.R529C|CCAR1_ENST00000535016.1_Missense_Mutation_p.R529C|CCAR1_ENST00000483264.1_3'UTR	p.R544C	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN			14	1749	+			544		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.1630C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533655	0.45073	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.992	T	0.78316	-0.2251	10	0.87932	D	0	-4.7661	19.1212	0.93364	0.0:1.0:0.0:0.0	.	529;544;518	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	C	544;529;529;529;518;349	ENSP00000265872:R544C;ENSP00000441820:R529C;ENSP00000445254:R529C;ENSP00000439252:R529C;ENSP00000438610:R518C;ENSP00000439642:R349C	ENSP00000265872:R544C	R	+	1	0	0	CCAR1	70186040	70186040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.725000	0.84808	2.533000	0.85409	0.585000	0.79938	CGT		0.423	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2		3.303783	21	21	57	57	NM_018237		3	7.591851	7.591851	25	0.107143	0	0	0	1	0	3	25	0.107143	T	70516034	C	T	70516034	3	4	80	1	0	0	0	0	1	0	0	0	2730	652	23	1	1680	1	CCAR1	10	70516034	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	26918052	70516034	65018713	265	1780											
ZNF503	84858	broad.mit.edu	37	10	77158605	77158605	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:77158605C>T	ENST00000372524.4	-	2	2329	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.A615T|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	615					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGCACGGGGGCGCCAGGCGTG	0.726																																						ENST00000372524.4											0			lung(4)|ovary(1)|skin(1)	6						c.(1843-1845)Gcc>Acc	zinc finger protein 503						8	10	10					10																	77158605		2175	4252	6427	SO:0001583	missense	84858			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158605C>T	AK127647	AK127647	CCDS7350.1	CCDS7350.1	10q22.3	2011-02-09			2011-02-09			ENSG00000165655	ENSG00000165655	ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	23589	23589	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613902	613902						12477932	12477932	Standard	Standard	NM_032772	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	uc001jxg.3	Q96F45	Q96F45	OTTHUMG00000018526	OTTHUMG00000018526	ENST00000372524.4:c.1843G>A	10.37:g.77158605C>T	ENSP00000361602:p.Ala615Thr		ZNF503_ENST00000535216.1_Missense_Mutation_p.A615T|RP11-399K21.11_ENST00000418818.2_lincRNA	p.A615T	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			2	2329	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		615		Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	c.1843G>A	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862163	0.91511	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.51071	0.72;0.72	4.6	4.6	0.57074	4.6	4.6	0.57074	.	0.057511	0.64402	D	0.000002	T	0.41465	0.1160	L	0.44542	1.39	0.80722	D	1	D	0.57899	0.981	B	0.40066	0.318	T	0.43605	-0.9381	10	0.40728	T	0.16	-12.78	17.6259	0.88093	0.0:1.0:0.0:0.0	.	615	Q96F45	ZN503_HUMAN	T	615;615;578	ENSP00000361602:A615T;ENSP00000438988:A615T	ENSP00000361594:A578T	A	-	1	0	0	ZNF503	76828611	76828611	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.779000	0.62375	2.376000	0.81061	0.643000	0.83706	GCC		0.726	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1		10.100975	2	2	9	9	NM_032772		4	10.279114	10.279114	7	0.363636	0	0	0	1	0	4	7	0.363636	T	77158605	C	T	77158605	3	4	80	1	0	0	0	0	1	0	0	0	17948	768	27	1	101	1	ZNF503	10	77158605	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6642571	77158605	58376142	266	1781											
KCNMA1	3778	broad.mit.edu	37	10	78651328	78651328	+	Silent	SNP	G	G	A	rs372103668		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:78651328G>A	ENST00000286628.8	-	26	3296	c.3297C>T	c.(3295-3297)cgC>cgT	p.R1099R	KCNMA1_ENST00000406533.3_Silent_p.R1103R|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372440.1_Silent_p.R1041R|KCNMA1_ENST00000372443.1_Silent_p.R1068R|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000286627.5_Silent_p.R1041R|KCNMA1_ENST00000354353.5_Silent_p.R1102R|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404857.1_Silent_p.R1082R|KCNMA1_ENST00000404771.3_Silent_p.R1099R	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1099					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ACTGGGCCACGCGGCAGCGGT	0.607																																						ENST00000286627.5											0			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3121-3123)cgC>cgT	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	G	,,,	0,4406		0,0,2203	42	40	41		3135,3297,3246,3123	-11.2	0	10		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	1045/1183,1099/1237,1082/1220,1041/1179	78651328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3778			cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78651328G>A	U11717	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			2012-07-05			ENSG00000156113	ENSG00000156113	ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	6284	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"BK channel alpha subunit"	"BK channel alpha subunit"	600150	600150		SLO		SLO		7987297, 16382103	7987297, 16382103	Standard	Standard	NM_002247	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	uc001jxn.3	Q12791	Q12791	OTTHUMG00000018543	OTTHUMG00000018543	ENST00000286628.8:c.3297C>T	10.37:g.78651328G>A			KCNMA1_ENST00000354353.5_Silent_p.R1102R|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Silent_p.R1068R|KCNMA1_ENST00000406533.3_Silent_p.R1103R|KCNMA1_ENST00000372440.1_Silent_p.R1041R|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.R1099R|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Silent_p.R1099R|KCNMA1_ENST00000404857.1_Silent_p.R1082R|RP11-443A13.5_ENST00000595702.1_RNA	p.R1041R	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		25	4075	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1099	Segment S10.	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.3123C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.688|2.688	-0.273736|-0.273736	0.05679|0.05679	0.0|0.0	1.16E-4|1.16E-4	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372421;ENST00000434208	.|T	.|0.21932	.|1.98	5.61|5.61	-11.2|-11.2	0.00127|0.00127	5.61|5.61	-11.2|-11.2	0.00127|0.00127	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17577|0.17577	0.0422|0.0422	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61232|0.61232	-0.7104|-0.7104	4|7	.|0.87932	.|D	.|0	-9.6252|-9.6252	2.4339|2.4339	0.04478|0.04478	0.413:0.2406:0.0732:0.2732|0.413:0.2406:0.0732:0.2732	.|.	.|.	.|.	.|.	V|C	992|1030;749	.|ENSP00000402150:R749C	.|ENSP00000361498:R1030C	A|R	-|-	2|1	0|0	0|0	KCNMA1|KCNMA1	78321334|78321334	78321334|78321334	0.001000|0.001000	0.12720|0.12720	0.044000|0.044000	0.18714|0.18714	0.451000|0.451000	0.32288|0.32288	-1.897000|-1.897000	0.01603|0.01603	-3.516000|-3.516000	0.00148|0.00148	-0.143000|-0.143000	0.13931|0.13931	GCG|CGT		0.607	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		31.319184	-11	-11	25	25	NM_002247		11	31.521555	31.521555	16	0.407407	0	0	0	1	0	11	16	0.407407	A	78651328	G	A	78651328	2	1	80	1	0	0	0	0	0	0	0	1	8073	1074	38	1		1	KCNMA1	10	78651328	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1492723	78651328	56883419	267	1782											
MYOF	26509	broad.mit.edu	37	10	95119637	95119637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:95119637G>A	ENST00000359263.4	-	29	3072	c.3073C>T	c.(3073-3075)Cga>Tga	p.R1025*	MYOF_ENST00000371502.4_Nonsense_Mutation_p.R1025*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.R1012*|MYOF_ENST00000371501.4_Nonsense_Mutation_p.R1025*	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1025					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGCGTTTTCGGACCAGCCTT	0.512																																						ENST00000371501.4											0			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3073-3075)Cga>Tga	myoferlin						203	192	196					10																	95119637		1951	4138	6089	SO:0001587	stop_gained	26509			blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95119637G>A	AB033033	AB033033	CCDS41550.1, CCDS41551.1	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119	ENSG00000138119	ENSG00000138119				3656	3656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fer-1-like family member 3"	"fer-1-like family member 3"	604603	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	10607832, 10995573, 17702744	Standard	Standard	NM_013451	NM_013451		Approved	KIAA1207	uc001kin.3	uc001kin.3	Q9NZM1	Q9NZM1	OTTHUMG00000018772	OTTHUMG00000018772	ENST00000359263.4:c.3073C>T	10.37:g.95119637G>A	ENSP00000352208:p.Arg1025*		MYOF_ENST00000358334.5_Nonsense_Mutation_p.R1012*|MYOF_ENST00000359263.4_Nonsense_Mutation_p.R1025*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.R1025*	p.R1025*			Q9NZM1	MYOF_HUMAN			29	3195	-			1025		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Nonsense_Mutation	SNP	ENST00000359263.4	37	c.3073C>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	43	10.062300	0.99327	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	.	.	.	5.36	4.45	0.53987	5.36	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5338	15.6043	0.76649	0.0:0.0:0.8615:0.1385	.	.	.	.	X	1012;1025;1025;1025	.	ENSP00000351094:R1012X	R	-	1	2	2	MYOF	95109627	95109627	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.607000	0.36836	1.478000	0.48253	0.561000	0.74099	CGA		0.512	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		44.008663	-24	-24	116	116	NM_013451		18	50.730648	50.730648	68	0.209302	0	0	0	1	0	18	68	0.209302	A	95119637	G	A	95119637	4	1	80	1	0	0	0	0	0	1	0	0	10089	1124	39	1	3216	1	MYOF	10	95119637	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	16468309	95119637	40415110	268	1783											
ANKRD2	26287	broad.mit.edu	37	10	99343422	99343422	+	Silent	SNP	C	C	T	rs201529513		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:99343422C>T	ENST00000307518.5	+	9	1290	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	ANKRD2_ENST00000298808.5_Silent_p.N308N|HOGA1_ENST00000370646.4_5'Flank|PI4K2A_ENST00000370649.3_5'Flank|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000370655.1_Silent_p.N314N|HOGA1_ENST00000370647.4_5'Flank|ANKRD2_ENST00000455090.1_Silent_p.N281N			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	341					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CTGAGCATAACGGGCTGGAGG	0.677													C|||	1	0.000199681	0	0	5008	,	,		13617	0.001		0	False		,,,				2504	0					ENST00000307518.5											0			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(1021-1023)aaC>aaT	ankyrin repeat domain 2 (stretch responsive muscle)						25	22	23					10																	99343422		2196	4299	6495	SO:0001819	synonymous_variant	26287			muscle contraction|muscle organ development		structural constituent of muscle	g.chr10:99343422C>T	AJ304805	AJ304805	CCDS7466.1, CCDS44468.1	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			2013-01-10			ENSG00000165887	ENSG00000165887	ENSG00000165887	ENSG00000165887		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	495	495	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610734	610734						10873377, 15136035, 15677738	10873377, 15136035, 15677738	Standard	Standard	NM_001129981	NM_001129981		Approved	ARPP	uc001knw.3	uc001knw.3	Q9GZV1	Q9GZV1	OTTHUMG00000018860	OTTHUMG00000018860	ENST00000307518.5:c.1023C>T	10.37:g.99343422C>T			ANKRD2_ENST00000298808.5_Silent_p.N308N|ANKRD2_ENST00000370655.1_Silent_p.N314N|ANKRD2_ENST00000455090.1_Silent_p.N281N	p.N341N			Q9GZV1	ANKR2_HUMAN		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)	9	1290	+		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)	341		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Silent	SNP	ENST00000307518.5	37	c.1023C>T	CCDS7466.1																																																																																									0.677	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			7.318175	-7	-7	11	11			3	8.181745	8.181745	10	0.230769	0	0	0	1	0	3	10	0.230769	T	99343422	C	T	99343422	2	4	80	1	0	0	0	0	0	0	0	1	647	535	19	1		1	ANKRD2	10	99343422	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4223785	99343422	36191325	269	1784											
PI4K2A	55361	broad.mit.edu	37	10	99416154	99416154	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:99416154G>A	ENST00000370631.3	+	3	806	c.749G>A	c.(748-750)cGc>cAc	p.R250H	PI4K2A_ENST00000370649.3_Missense_Mutation_p.R220H|PI4K2A_ENST00000555577.1_Missense_Mutation_p.R220H	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	250	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CGGTTTAACCGCATCGGGCTA	0.498																																						ENST00000370631.3											0			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(748-750)cGc>cAc	phosphatidylinositol 4-kinase type 2 alpha						74	69	71					10																	99416154		2203	4300	6503	SO:0001583	missense	55361			phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99416154G>A	AF070611	AF070611	CCDS7469.1	CCDS7469.1	10q24	2011-02-09			2011-02-09			ENSG00000155252	ENSG00000155252	ENSG00000155252	ENSG00000155252				30031	30031	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609763	609763						11244087, 11279162	11244087, 11279162	Standard	Standard	NM_018425	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	uc001kog.1	Q9BTU6	Q9BTU6	OTTHUMG00000018863	OTTHUMG00000018863	ENST00000370631.3:c.749G>A	10.37:g.99416154G>A	ENSP00000359665:p.Arg250His		PI4K2A_ENST00000555577.1_Missense_Mutation_p.R220H|PI4K2A_ENST00000370649.3_Missense_Mutation_p.R220H	p.R250H	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	3	806	+		Colorectal(252;0.162)	250	PI3K/PI4K.	D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.749G>A	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751536	0.69533	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.77229	-1.08;-1.08;-1.08	4.39	4.39	0.52855	4.39	4.39	0.52855	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.89646	0.6775	M	0.88031	2.925	0.80722	D	1	D;P	0.89917	1.0;0.909	D;P	0.79784	0.993;0.48	D	0.91320	0.5081	10	0.56958	D	0.05	-11.2823	17.5611	0.87908	0.0:0.0:1.0:0.0	.	220;250	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	H	220;250;220	ENSP00000452243:R220H;ENSP00000359665:R250H;ENSP00000359683:R220H	ENSP00000359665:R250H	R	+	2	0	0	PI4K2A;RP11-548K23.11	99406144	99406144	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	9.601000	0.98297	2.437000	0.82529	0.650000	0.86243	CGC		0.498	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1		22.857722	5	5	62	62	NM_018425		9	24.902944	24.902944	27	0.25	0	0	0	1	0	9	27	0.25	A	99416154	G	A	99416154	3	1	80	1	0	0	0	0	1	0	0	0	11871	1087	38	1	759	1	PI4K2A	10	99416154	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	72732	99416154	36118593	270	1785											
SLC25A28	81894	broad.mit.edu	37	10	101370891	101370891	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:101370891G>A	ENST00000370495.4	-	4	838	c.810C>T	c.(808-810)tgC>tgT	p.C270C	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	270					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAGCTCCTGCGCAAGCTCCAG	0.537																																						ENST00000370495.4											0			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(808-810)tgC>tgT	solute carrier family 25 (mitochondrial iron transporter), member 28						75	77	76					10																	101370891		1965	4152	6117	SO:0001819	synonymous_variant	81894			ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101370891G>A	AF327402	AF327402	CCDS41559.1	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287	ENSG00000155287	ENSG00000155287		"Solute carriers"	"Solute carriers"	23472	23472	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"mitoferrin 2"	"mitoferrin 2"	609767	609767	"solute carrier family 25, member 28"		"solute carrier family 25, member 28"			11297739	11297739	Standard	Standard	NM_031212	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	uc001kpx.2	Q96A46	Q96A46	OTTHUMG00000018886	OTTHUMG00000018886	ENST00000370495.4:c.810C>T	10.37:g.101370891G>A			SLC25A28_ENST00000496035.1_5'UTR	p.C270C	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	4	838	-		Colorectal(252;0.234)	270		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Silent	SNP	ENST00000370495.4	37	c.810C>T	CCDS41559.1																																																																																									0.537	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1		24.600335	1	1	56	56	NM_031212		11	28.402699	28.402699	40	0.215686	0	0	0	1	0	11	40	0.215686	A	101370891	G	A	101370891	2	1	80	1	0	0	0	0	0	0	0	1	14491	1079	38	1		1	SLC25A28	10	101370891	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1954737	101370891	34163856	271	1786											
CYP17A1	1586	broad.mit.edu	37	10	104592367	104592367	+	Missense_Mutation	SNP	C	C	T	rs61754278	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:104592367C>T	ENST00000369887.3	-	6	1211	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	CYP17A1_ENST00000489268.1_5'Flank|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	347			R -> C (in AH5). {ECO:0000269|PubMed:12466376}.|R -> H (in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity). {ECO:0000269|PubMed:11549685, ECO:0000269|PubMed:12466376, ECO:0000269|Ref.20}.		adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GAGACGGTTACGGTCACTGAT	0.572																																						ENST00000369887.3											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18	GRCh37	CM960476	CYP17A1	M	rs61754278	c.(1039-1041)cGt>cAt	cytochrome P450, family 17, subfamily A, polypeptide 1						154	127	136					10																	104592367		2203	4300	6503	SO:0001583	missense	1586			androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104592367C>T	M19489	M19489	CCDS7541.1	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	"Cytochrome P450s"	2593	2593	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	"Steroid 17-alpha-monooxygenase"	609300	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	1347802	Standard	Standard	NM_000102	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	uc001kwg.3	P05093	P05093	OTTHUMG00000018969	OTTHUMG00000018969	ENST00000369887.3:c.1040G>A	10.37:g.104592367C>T	ENSP00000358903:p.Arg347His			p.R347H	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1211	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	347		Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.1040G>A	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466936	0.63625	.	.	ENSG00000148795	ENST00000369887	T	0.70164	-0.46	5.37	4.46	0.54185	5.37	4.46	0.54185	.	0.107006	0.64402	D	0.000007	T	0.81631	0.4863	M	0.81802	2.56	0.58432	D	0.999995	D	0.89917	1.0	D	0.77004	0.989	D	0.84511	0.0622	10	0.87932	D	0	.	13.9121	0.63873	0.0:0.9253:0.0:0.0747	rs61754278	347	P05093	CP17A_HUMAN	H	347	ENSP00000358903:R347H	ENSP00000358903:R347H	R	-	2	0	0	CYP17A1	104582357	104582357	1.000000	0.71417	0.952000	0.39060	0.049000	0.14656	7.368000	0.79567	1.393000	0.46605	0.561000	0.74099	CGT		0.572	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1		49.991615	-17	-17	91	91	NM_000102		19	53.789695	53.789695	54	0.260274	0	0	0	1	0	19	54	0.260274	T	104592367	C	T	104592367	3	4	80	1	0	0	0	0	1	0	0	0	4147	536	19	1	498	1	CYP17A1	10	104592367	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3221476	104592367	30942380	272	1787											
C10orf79	80217	broad.mit.edu	37	10	105971913	105971913	+	Missense_Mutation	SNP	G	G	A	rs371285570		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:105971913G>A	ENST00000278064.2	-	5	702	c.377C>T	c.(376-378)tCg>tTg	p.S126L	WDR96_ENST00000369719.1_Missense_Mutation_p.S126L|WDR96_ENST00000369720.1_Missense_Mutation_p.S126L|WDR96_ENST00000357060.3_Missense_Mutation_p.S196L|WDR96_ENST00000428666.1_Missense_Mutation_p.S196L																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAATTTCACCGACCTGTAGAC	0.428																																						ENST00000357060.3											0			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(586-588)tCg>tTg	WD repeat domain 96	G	LEU/SER	0,4406		0,0,2203	55	53	54		587	1.3	0	10		54	2,8598	2.2+/-6.3	0,2,4298	no	missense	WDR96	NM_025145.5	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	196/1666	105971913	2,13004	2203	4300	6503	SO:0001583	missense	80217						g.chr10:105971913G>A																																																	ENST00000278064.2:c.377C>T	10.37:g.105971913G>A	ENSP00000278064:p.Ser126Leu		WDR96_ENST00000369719.1_Missense_Mutation_p.S126L|WDR96_ENST00000278064.2_Missense_Mutation_p.S126L|WDR96_ENST00000369720.1_Missense_Mutation_p.S126L|WDR96_ENST00000428666.1_Missense_Mutation_p.S196L	p.S196L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			5	702	-			196			Missense_Mutation	SNP	ENST00000278064.2	37	c.587C>T		.	.	.	.	.	.	.	.	.	.	G	12.18	1.860622	0.32884	0.0	2.33E-4	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.71579	1.5;1.5;1.5;1.5;-0.58	5.51	1.27	0.21489	5.51	1.27	0.21489	WD40 repeat-like-containing domain (1);	0.564958	0.13400	N	0.390738	T	0.57504	0.2058	L	0.43152	1.355	0.09310	N	0.999997	B;B;B	0.14805	0.011;0.004;0.005	B;B;B	0.13407	0.009;0.002;0.003	T	0.42632	-0.9440	10	0.27785	T	0.31	.	6.7757	0.23619	0.1399:0.0:0.6121:0.2479	.	196;196;196	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	L	196;196;126;126;126	ENSP00000349568:S196L;ENSP00000400289:S196L;ENSP00000278064:S126L;ENSP00000358734:S126L;ENSP00000358733:S126L	ENSP00000278064:S126L	S	-	2	0	0	WDR96	105961903	105961903	0.005000	0.15991	0.010000	0.14722	0.043000	0.13939	0.367000	0.20382	0.255000	0.21593	-0.137000	0.14449	TCG		0.428	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1		22.120429	0	0	49	49			10	26.105593	26.105593	39	0.204082	0	0	0	1	0	10	39	0.204082	A	105971913	G	A	105971913	3	1	80	1	0	0	0	0	1	0	0	0	1618	1059	37	1	4546	1	C10orf79	10	105971913	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1379546	105971913	29562834	273	1788											
VWA2	340706	broad.mit.edu	37	10	116048825	116048825	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:116048825G>A	ENST00000392982.3	+	12	1949	c.1699G>A	c.(1699-1701)Gtg>Atg	p.V567M	VWA2_ENST00000603594.1_Missense_Mutation_p.V567M			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	567	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GAACCCTGACGTGACACAGGT	0.592																																						ENST00000603594.1											0			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1699-1701)Gtg>Atg	von Willebrand factor A domain containing 2						72	66	68					10																	116048825		2203	4300	6503	SO:0001583	missense	340706				extracellular region		g.chr10:116048825G>A	AK127756	AK127756	CCDS7589.1, CCDS7589.2	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			2009-11-06			ENSG00000165816	ENSG00000165816	ENSG00000165816	ENSG00000165816				24709	24709	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										15580307, 14506275	15580307, 14506275	Standard	Standard	NM_001272046	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	uc001lbl.2	Q5GFL6	Q5GFL6	OTTHUMG00000019082	OTTHUMG00000019082	ENST00000392982.3:c.1699G>A	10.37:g.116048825G>A	ENSP00000376708:p.Val567Met		VWA2_ENST00000392982.3_Missense_Mutation_p.V567M	p.V567M	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	12	2020	+			567	VWFA 3.	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1699G>A		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959384	0.53400	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.77750	-1.12	5.43	4.53	0.55603	5.43	4.53	0.55603	von Willebrand factor, type A (3);	0.074249	0.53938	D	0.000042	D	0.85932	0.5812	M	0.70275	2.135	0.33620	D	0.604673	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.965;1.0;0.999	D	0.89553	0.3801	10	0.48119	T	0.1	.	12.1829	0.54221	0.0797:0.0:0.9203:0.0	.	263;567;567	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	M	567	ENSP00000376708:V567M	ENSP00000298715:V567M	V	+	1	0	0	VWA2	116038815	116038815	1.000000	0.71417	0.853000	0.33588	0.402000	0.30811	5.569000	0.67391	1.297000	0.44761	-0.140000	0.14226	GTG		0.592	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3		51.505132	-4	-4	34	34	NM_198496		16	51.573246	51.573246	13	0.551724	0	0	0	1	0	16	13	0.551724	A	116048825	G	A	116048825	3	1	80	1	0	0	0	0	1	0	0	0	17236	1145	40	1	1741	1	VWA2	10	116048825	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	10076912	116048825	19485922	274	1789											
INPP5F	22876	broad.mit.edu	37	10	121551527	121551527	+	Silent	SNP	C	C	T	rs375176930		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:121551527C>T	ENST00000361976.2	+	5	757	c.591C>T	c.(589-591)gaC>gaT	p.D197D	INPP5F_ENST00000369081.1_Silent_p.D101D|INPP5F_ENST00000369083.3_Silent_p.D197D	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GGGAGAGGGACGGTCGGCCCC	0.502																																						ENST00000361976.2											0			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(589-591)gaC>gaT	inositol polyphosphate-5-phosphatase F	C		0,4406		0,0,2203	159	162	161		591	-11	0	10		161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	INPP5F	NM_014937.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		197/1133	121551527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22876					phosphoric ester hydrolase activity	g.chr10:121551527C>T	AB023183	AB023183	CCDS7616.1, CCDS58098.1	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			2009-02-03			ENSG00000198825	ENSG00000198825	ENSG00000198825	ENSG00000198825				17054	17054	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609389	609389						10231032, 11274189	10231032, 11274189	Standard	Standard	NM_014937	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	uc001leo.3	Q9Y2H2	Q9Y2H2	OTTHUMG00000019158	OTTHUMG00000019158	ENST00000361976.2:c.591C>T	10.37:g.121551527C>T			INPP5F_ENST00000369081.1_Silent_p.D101D|INPP5F_ENST00000369083.3_Silent_p.D197D	p.D197D	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	5	757	+		Lung NSC(174;0.109)|all_lung(145;0.142)	197	SAC.	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000361976.2	37	c.591C>T	CCDS7616.1																																																																																									0.502	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1		85.355508	-14	-14	103	103	NM_014937		29	86.481571	86.481571	49	0.371795	0	0	0	1	0	29	49	0.371795	T	121551527	C	T	121551527	2	4	80	1	0	0	0	0	0	0	0	1	7758	535	19	1		1	INPP5F	10	121551527	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5502702	121551527	13983220	275	1790											
CHST15	51363	broad.mit.edu	37	10	125805354	125805354	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:125805354G>A	ENST00000346248.5	-	2	1017	c.375C>T	c.(373-375)agC>agT	p.S125S	CHST15_ENST00000435907.1_Silent_p.S125S|CHST15_ENST00000421115.1_Silent_p.S125S|CHST15_ENST00000462406.1_5'Flank	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	125					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTGGGTTTTCGCTGTCCATCA	0.438																																						ENST00000346248.5											0			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(373-375)agC>agT	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15						147	160	156					10																	125805354		2203	4300	6503	SO:0001819	synonymous_variant	51363			hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805354G>A	AB011170	AB011170	CCDS7638.1	CCDS7638.1	10q26	2009-07-09			2009-07-09			ENSG00000182022	ENSG00000182022	ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	"Sulfotransferases, membrane-bound"	18137	18137	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277	608277						9628581, 9754571, 11572857	9628581, 9754571, 11572857	Standard	Standard	NM_014863	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	uc001lhm.4	Q7LFX5	Q7LFX5	OTTHUMG00000019208	OTTHUMG00000019208	ENST00000346248.5:c.375C>T	10.37:g.125805354G>A			CHST15_ENST00000421115.1_Silent_p.S125S|CHST15_ENST00000435907.1_Silent_p.S125S	p.S125S	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN			2	1017	-			125		O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.375C>T	CCDS7638.1																																																																																									0.438	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1		-6.931403	-19	-19	176	176	NM_015892		6	12.767514	12.767514	92	0.061224	0	0	0	1	0	6	92	0.061224	A	125805354	G	A	125805354	2	1	80	1	0	0	0	0	0	0	0	1	3403	1078	38	1		1	CHST15	10	125805354	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4253827	125805354	9729393	276	1791											
DPYSL4	10570	broad.mit.edu	37	10	134008389	134008389	+	Silent	SNP	G	G	A	rs138714632	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:134008389G>A	ENST00000338492.4	+	4	518	c.354G>A	c.(352-354)gcG>gcA	p.A118A	DPYSL4_ENST00000368629.1_Silent_p.A41A|DPYSL4_ENST00000368627.1_Silent_p.A41A|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	118					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCCTGCTGGCGGCCTACGAGC	0.662													G|||	3	0.000599042	0	0	5008	,	,		14694	0.002		0.001	False		,,,				2504	0					ENST00000338492.4											0			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(352-354)gcG>gcA	dihydropyrimidinase-like 4						71	66	68					10																	134008389		2203	4298	6501	SO:0001819	synonymous_variant	10570			axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134008389G>A	AB006713	AB006713	CCDS7665.1	CCDS7665.1	10q25.2-q26	2008-05-14			2008-05-14			ENSG00000151640	ENSG00000151640	ENSG00000151640	ENSG00000151640				3016	3016	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608407	608407						8973361, 9652388	8973361, 9652388	Standard	Standard	NM_006426	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	uc009ybb.3	O14531	O14531	OTTHUMG00000019283	OTTHUMG00000019283	ENST00000338492.4:c.354G>A	10.37:g.134008389G>A			DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Silent_p.A41A|DPYSL4_ENST00000368629.1_Silent_p.A41A	p.A118A	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	4	518	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	118		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.354G>A	CCDS7665.1																																																																																									0.662	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2		51.566805	-29	-29	72	72			17	52.064083	52.064083	27	0.386364	0	0	0	1	0	17	27	0.386364	A	134008389	G	A	134008389	2	1	80	1	0	0	0	0	0	0	0	1	4749	1103	39	1		1	DPYSL4	10	134008389	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8203035	134008389	1526358	277	1792											
MUC2	4583	broad.mit.edu	37	11	1095811	1095811	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:1095811G>A	ENST00000441003.2	+	33	6349	c.6322G>A	c.(6322-6324)Ggc>Agc	p.G2108S	MUC2_ENST00000361558.6_Missense_Mutation_p.G246S|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4470					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGACCCCGACGGCTGCTGCTG	0.701																																						ENST00000441003.2											0			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(6322-6324)Ggc>Agc	mucin 2, oligomeric mucus/gel-forming						26	35	32					11																	1095811		2130	4229	6359	SO:0001583	missense	4583				inner mucus layer|outer mucus layer	protein binding	g.chr11:1095811G>A	L21998	L21998			11p15.5	2011-01-28	2006-03-14		2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	ENSG00000198788	ENSG00000198788		"Mucins"	"Mucins"	7512	7512	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			158370	158370	"mucin 2, intestinal/tracheal"		"mucin 2, intestinal/tracheal"			15081123	15081123	Standard	Standard	NM_002457	NM_002457		Approved		uc001lsx.1	uc001lsx.1	Q02817	Q02817	OTTHUMG00000156800	OTTHUMG00000156800	ENST00000441003.2:c.6322G>A	11.37:g.1095811G>A	ENSP00000415183:p.Gly2108Ser		MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.G246S	p.G2108S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	33	6349	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4470		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.6322G>A		.	.	.	.	.	.	.	.	.	.	G	5.123	0.208280	0.09757	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.31769	2.54;1.48	3.62	-1.48	0.08745	3.62	-1.48	0.08745	.	.	.	.	.	T	0.18841	0.0452	L	0.35542	1.07	0.09310	N	1	D	0.59357	0.985	B	0.40602	0.334	T	0.24154	-1.0168	9	0.29301	T	0.29	.	8.196	0.31396	0.1804:0.3911:0.4285:0.0	.	2108	E7EUV1	.	S	2108;246	ENSP00000415183:G2108S;ENSP00000354885:G246S	ENSP00000354885:G246S	G	+	1	0	0	MUC2	1085811	1085811	0.003000	0.15002	0.017000	0.16124	0.165000	0.22458	0.514000	0.22786	-0.050000	0.13356	0.491000	0.48974	GGC		0.701	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		5.714073	-5	-5	17	17	NM_002457		3	7.833363	7.833363	16	0.157895	0	0	0	1	0	3	16	0.157895	A	1095811	G	A	1095811	3	1	80	1	0	0	0	0	1	0	0	0	9975	1116	39	1	6444	1	MUC2	11	1095811	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		1095811	133910705	278	1793											
TNNT3	7140	broad.mit.edu	37	11	1950366	1950366	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:1950366C>T	ENST00000397301.1	+	8	140	c.132C>T	c.(130-132)gaC>gaT	p.D44D	TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381548.3_Silent_p.D35D|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000278317.6_Silent_p.D33D|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000397304.2_Intron			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	44					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CAGAGGAGGACGCGGAAGGTA	0.667																																						ENST00000278317.6											0			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(97-99)gaC>gaT	troponin T type 3 (skeletal, fast)						99	103	102					11																	1950366		2202	4299	6501	SO:0001819	synonymous_variant	7140			muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1950366C>T	M21984	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595	ENSG00000130595	ENSG00000130595				11950	11950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"troponin-T3, skeletal, fast"	"troponin-T3, skeletal, fast"	600692	600692	"troponin T3, skeletal, fast"		"troponin T3, skeletal, fast"			8172653	8172653	Standard	Standard	NM_001042782	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	uc001lup.4	P45378	P45378	OTTHUMG00000012475	OTTHUMG00000012475	ENST00000397301.1:c.132C>T	11.37:g.1950366C>T			TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000397301.1_Silent_p.D44D|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381548.3_Silent_p.D35D|TNNT3_ENST00000381558.1_Intron	p.D33D	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	7	318	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	44		A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Silent	SNP	ENST00000397301.1	37	c.99C>T																																																																																										0.667	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3		26.570240	-18	-18	123	123	NM_006757		12	30.988171	30.988171	45	0.210526	0	0	0	1	0	12	45	0.210526	T	1950366	C	T	1950366	2	4	80	1	0	0	0	0	0	0	0	1	16329	535	19	1		1	TNNT3	11	1950366	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	854555	1950366	133056150	279	1794											
PPFIBP2	8495	broad.mit.edu	37	11	7652162	7652162	+	Missense_Mutation	SNP	C	C	T	rs201945661		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:7652162C>T	ENST00000299492.4	+	11	1359	c.971C>T	c.(970-972)tCg>tTg	p.S324L	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S181L|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S166L|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S212L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	324					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAGGGCCTTCGGAGAGAACT	0.388													C|||	1	0.000199681	0	0	5008	,	,		20246	0.001		0	False		,,,				2504	0					ENST00000299492.4											0			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(970-972)tCg>tTg	PTPRF interacting protein, binding protein 2 (liprin beta 2)						110	117	115					11																	7652162		2201	4296	6497	SO:0001583	missense	8495			cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7652162C>T	AF034803	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			2013-01-10			ENSG00000166387	ENSG00000166387	ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	"Sterile alpha motif (SAM) domain containing"	9250	9250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603142	603142						9624153	9624153	Standard	Standard	NM_003621	NM_003621		Approved	Cclp1	uc001mfj.5	uc001mfj.5	Q8ND30	Q8ND30	OTTHUMG00000165617	OTTHUMG00000165617	ENST00000299492.4:c.971C>T	11.37:g.7652162C>T	ENSP00000299492:p.Ser324Leu		PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S166L|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S212L|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S181L	p.S324L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	11	1359	+			324		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.971C>T	CCDS31419.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	23.7	4.447333	0.84101	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	6.17	5.27	0.74061	6.17	5.27	0.74061	.	0.186394	0.37669	N	0.002000	T	0.61362	0.2341	L	0.51422	1.61	0.40553	D	0.981138	B;B;B;P;B	0.34892	0.002;0.217;0.021;0.474;0.02	B;B;B;B;B	0.24394	0.001;0.038;0.006;0.053;0.003	T	0.62737	-0.6791	10	0.37606	T	0.19	0.0316	13.4735	0.61295	0.0:0.925:0.0:0.075	.	212;212;247;181;324	E9PK77;B7Z433;F5GWB0;E9PMU1;Q8ND30	.;.;.;.;LIPB2_HUMAN	L	324;166;166;247;212;181	ENSP00000299492:S324L;ENSP00000436498:S166L;ENSP00000435469:S212L;ENSP00000437321:S181L	ENSP00000299492:S324L	S	+	2	0	0	PPFIBP2	7608738	7608738	0.795000	0.28851	0.985000	0.45067	0.918000	0.54935	3.175000	0.50855	1.625000	0.50366	0.655000	0.94253	TCG		0.388	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2		56.774226	5	5	111	111	NM_003621		20	59.060116	59.060116	46	0.30303	0	0	0	1	0	20	46	0.30303	T	7652162	C	T	7652162	3	4	80	1	0	0	0	0	1	0	0	0	12314	893	31	1	1009	1	PPFIBP2	11	7652162	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5701796	7652162	127354354	280	1795											
MRVI1	10335	broad.mit.edu	37	11	10648057	10648057	+	Missense_Mutation	SNP	C	C	T	rs565811419		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:10648057C>T	ENST00000436272.1	-	8	821	c.743G>A	c.(742-744)cGt>cAt	p.R248H	MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000421747.1_Missense_Mutation_p.R266H|MRVI1_ENST00000531107.1_Missense_Mutation_p.R267H|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000547195.1_Missense_Mutation_p.R184H|MRVI1_ENST00000527509.2_Missense_Mutation_p.R184H|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.R275H|MRVI1_ENST00000552103.1_Missense_Mutation_p.R184H			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	248					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGAGGAGGACGAGGAGCCAG	0.522																																						ENST00000547195.1											0			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(550-552)cGt>cAt	murine retrovirus integration site 1 homolog						67	73	71					11																	10648057		1963	4154	6117	SO:0001583	missense	10335			platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10648057C>T	AF081249	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			2014-09-11			ENSG00000072952	ENSG00000072952	ENSG00000072952	ENSG00000072952				7237	7237	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673	604673						10321731	10321731	Standard	Standard	NM_001098579	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	uc010rcb.1	Q9Y6F6	Q9Y6F6	OTTHUMG00000165773	OTTHUMG00000165773	ENST00000436272.1:c.743G>A	11.37:g.10648057C>T	ENSP00000412229:p.Arg248His		MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.R266H|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.R275H|MRVI1_ENST00000527509.2_Missense_Mutation_p.R184H|MRVI1_ENST00000552103.1_Missense_Mutation_p.R184H|MRVI1_ENST00000531107.1_Missense_Mutation_p.R267H|MRVI1_ENST00000436272.1_Missense_Mutation_p.R248H	p.R184H	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	8	1051	-			248		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.551G>A		.	.	.	.	.	.	.	.	.	.	C	11.93	1.786825	0.31593	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T	0.19105	2.73;2.82;2.17;2.17;2.55;2.73;2.17	5.56	4.66	0.58398	5.56	4.66	0.58398	.	0.126644	0.53938	N	0.000041	T	0.22513	0.0543	M	0.65498	2.005	0.80722	D	1	B;B;B	0.22003	0.009;0.037;0.063	B;B;B	0.17433	0.008;0.008;0.018	T	0.03706	-1.1011	10	0.21014	T	0.42	-5.4137	11.7525	0.51857	0.0:0.8584:0.0:0.1416	.	248;267;266	Q9Y6F6;E9PQY6;Q9Y6F6-4	MRVI1_HUMAN;.;.	H	266;249;248;184;184;275;267;184	ENSP00000414598:R266H;ENSP00000412229:R248H;ENSP00000448278:R184H;ENSP00000446764:R184H;ENSP00000412130:R275H;ENSP00000432436:R267H;ENSP00000432067:R184H	ENSP00000307885:R249H	R	-	2	0	0	MRVI1	10604633	10604633	0.976000	0.34144	0.851000	0.33527	0.281000	0.26958	2.018000	0.40991	1.375000	0.46248	-0.222000	0.12452	CGT		0.522	MRVI1-203	KNOWN	basic	protein_coding	protein_coding			25.501693	0	0	19	19	NM_001098579		8	25.563984	25.563984	6	0.571429	0	0	0	1	0	8	6	0.571429	T	10648057	C	T	10648057	3	4	80	1	0	0	0	0	1	0	0	0	9853	536	19	1	1966	1	MRVI1	11	10648057	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2995895	10648057	124358459	281	1796											
KCNC1	3746	broad.mit.edu	37	11	17793391	17793391	+	Silent	SNP	C	C	T	rs147271572	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:17793391C>T	ENST00000379472.3	+	2	780	c.750C>T	c.(748-750)ggC>ggT	p.G250G	KCNC1_ENST00000265969.6_Silent_p.G250G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	250					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ACATCGAGGGCGTCTGTGTGG	0.537													C|||	3	0.000599042	0	0	5008	,	,		22119	0.003		0	False		,,,				2504	0					ENST00000379472.3											0			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(748-750)ggC>ggT	potassium voltage-gated channel, Shaw-related subfamily, member 1						324	267	286					11																	17793391		2200	4293	6493	SO:0001819	synonymous_variant	3746				voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793391C>T	M96747	M96747	CCDS7827.1, CCDS44547.1	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			2012-07-05			ENSG00000129159	ENSG00000129159	ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	6233	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176258	176258						8449507, 16382104	8449507, 16382104	Standard	Standard	NM_004976	NM_004976		Approved	Kv3.1	uc009yhc.1	uc009yhc.1	P48547	P48547	OTTHUMG00000166359	OTTHUMG00000166359	ENST00000379472.3:c.750C>T	11.37:g.17793391C>T			KCNC1_ENST00000265969.6_Silent_p.G250G	p.G250G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	780	+			250		K4DI87	Silent	SNP	ENST00000379472.3	37	c.750C>T	CCDS7827.1																																																																																									0.537	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1		83.717002	9	9	144	144	NM_004976		32	85.46362	85.46362	59	0.351648	0	0	0	1	0	32	59	0.351648	T	17793391	C	T	17793391	2	4	80	1	0	0	0	0	0	0	0	1	8014	755	27	1		1	KCNC1	11	17793391	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7145334	17793391	117213125	282	1797											
MRGPRX2	117194	broad.mit.edu	37	11	19077851	19077851	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:19077851C>T	ENST00000329773.2	-	2	186	c.99G>A	c.(97-99)ccG>ccA	p.P33P		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	33					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCAGGAAGACCGGGATCAGGG	0.562																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2											0			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(97-99)ccG>ccA	MAS-related GPR, member X2						148	158	154					11																	19077851		2199	4293	6492	SO:0001819	synonymous_variant	117194			sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077851C>T			CCDS7847.1	CCDS7847.1	11p15.1	2013-10-10			2013-10-10			ENSG00000183695	ENSG00000183695	ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	"GPCR / Class A : Orphans"	17983	17983	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607228	607228						11551509	11551509	Standard	Standard	NM_054030	NM_054030		Approved	MRGX2	uc001mph.3	uc001mph.3	Q96LB1	Q96LB1	OTTHUMG00000166098	OTTHUMG00000166098	ENST00000329773.2:c.99G>A	11.37:g.19077851C>T				p.P33P	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	186	-			33		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.99G>A	CCDS7847.1																																																																																									0.562	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1		50.486404	-33	-33	120	120	NM_054030		22	60.723103	60.723103	93	0.191304	0	0	0	1	0	22	93	0.191304	T	19077851	C	T	19077851	2	4	80	1	0	0	0	0	0	0	0	1	9767	639	23	1		1	MRGPRX2	11	19077851	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1284460	19077851	115928665	283	1798											
SLC6A5	9152	broad.mit.edu	37	11	20676288	20676288	+	Silent	SNP	G	G	A	rs373204248	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:20676288G>A	ENST00000525748.1	+	16	2541	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	756					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGCCACAGCCGGACTGGGGCC	0.562													G|||	2	0.000399361	8e-04	0	5008	,	,		18999	0.001		0	False		,,,				2504	0					ENST00000525748.1											0			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(2266-2268)ccG>ccA	solute carrier family 6 (neurotransmitter transporter), member 5	G		1,4405	2.1+/-5.4	0,1,2202	114	111	112		2268	-6	1	11		112	0,8600		0,0,4300	no	coding-synonymous	SLC6A5	NM_004211.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		756/798	20676288	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9152			synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20676288G>A	AF085412	AF085412	CCDS7854.1	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970	ENSG00000165970	ENSG00000165970		"Solute carriers"	"Solute carriers"	11051	11051	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"glycine transporter 2"	"glycine transporter 2"	604159	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	9845349	Standard	Standard	NM_004211	NM_004211		Approved	GLYT2	uc001mqd.3	uc001mqd.3	Q9Y345	Q9Y345	OTTHUMG00000166024	OTTHUMG00000166024	ENST00000525748.1:c.2268G>A	11.37:g.20676288G>A			SLC6A5_ENST00000528440.1_3'UTR	p.P756P	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			16	2541	+			756		O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.2268G>A	CCDS7854.1																																																																																									0.562	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2		76.096332	3	3	71	71	NM_004211		24	76.16314	76.16314	28	0.461538	0	0	0	1	0	24	28	0.461538	A	20676288	G	A	20676288	2	1	80	1	0	0	0	0	0	0	0	1	14687	1103	39	1		1	SLC6A5	11	20676288	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1598437	20676288	114330228	284	1799											
BBOX1	8424	broad.mit.edu	37	11	27148866	27148866	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:27148866C>T	ENST00000529202.1	+	8	1369	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	BBOX1_ENST00000263182.3_Missense_Mutation_p.R344C|BBOX1_ENST00000525090.1_Missense_Mutation_p.R344C|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.R344C			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	344					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TGATAACTGGCGCTTACTTCA	0.403																																						ENST00000263182.3											0			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1030-1032)Cgc>Tgc	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1						117	104	109					11																	27148866		2202	4299	6501	SO:0001583	missense	8424			carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27148866C>T	AF082868	AF082868	CCDS7862.1	CCDS7862.1	11p	2008-02-01			2008-02-01			ENSG00000129151	ENSG00000129151	ENSG00000129151	ENSG00000129151	1.14.11.1			964	964	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603312	603312		BBOX		BBOX		9753662	9753662	Standard	Standard	XM_005253159	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	uc001mre.1	O75936	O75936	OTTHUMG00000166121	OTTHUMG00000166121	ENST00000529202.1:c.1030C>T	11.37:g.27148866C>T	ENSP00000435781:p.Arg344Cys		RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.R344C|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.R344C|BBOX1_ENST00000528583.1_Missense_Mutation_p.R344C	p.R344C	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN			9	1398	+			344		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	c.1030C>T	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887968	0.91814	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.94282	0.8163	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94861	0.8022	10	0.87932	D	0	.	18.7825	0.91939	0.0:1.0:0.0:0.0	.	344	O75936	BODG_HUMAN	C	344	ENSP00000435781:R344C;ENSP00000263182:R344C;ENSP00000434918:R344C;ENSP00000433772:R344C	ENSP00000263182:R344C	R	+	1	0	0	BBOX1	27105442	27105442	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.835000	0.75344	2.780000	0.95670	0.655000	0.94253	CGC		0.403	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1		33.718054	10	10	82	82	NM_003986		14	37.441138	37.441138	45	0.237288	0	0	0	1	0	14	45	0.237288	T	27148866	C	T	27148866	3	4	80	1	0	0	0	0	1	0	0	0	1334	768	27	1	1056	1	BBOX1	11	27148866	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6472578	27148866	107857650	285	1800											
CLP1	10978	broad.mit.edu	37	11	57428246	57428246	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:57428246C>T	ENST00000302731.4	+	3	544	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	CLP1_ENST00000529430.1_Missense_Mutation_p.R217C|CLP1_ENST00000533682.1_Missense_Mutation_p.R206C|CLP1_ENST00000525602.1_Missense_Mutation_p.R206C	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GATTACATCTCGTTTAGCAGA	0.438																																						ENST00000533682.1											0			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						c.(616-618)Cgt>Tgt	cleavage and polyadenylation factor I subunit 1						101	97	99					11																	57428246		2201	4296	6497	SO:0001583	missense	10978			mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	g.chr11:57428246C>T	BC000446	BC000446	CCDS7964.1, CCDS44600.1	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	ENSG00000172409	ENSG00000172409	2.7.1.78			16999	16999	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	608757	608757	"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"		"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"			8896421, 11060040	8896421, 11060040	Standard	Standard	NM_006831	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	uc001nkw.3	Q92989	Q92989	OTTHUMG00000167146	OTTHUMG00000167146	ENST00000302731.4:c.424C>T	11.37:g.57428246C>T	ENSP00000304704:p.Arg142Cys		CLP1_ENST00000302731.4_Missense_Mutation_p.R142C|CLP1_ENST00000529430.1_Missense_Mutation_p.R217C|CLP1_ENST00000525602.1_Missense_Mutation_p.R206C	p.R206C			Q92989	CLP1_HUMAN			3	1341	+			206		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000302731.4	37	c.616C>T	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.262061	0.39995	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	T;T;T;T	0.49139	0.79;0.79;0.79;0.97	6.05	5.14	0.70334	6.05	5.14	0.70334	.	0.092787	0.85682	D	0.000000	T	0.43809	0.1264	L	0.46157	1.445	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.15484	0.001;0.013	T	0.32268	-0.9913	10	0.51188	T	0.08	-20.5558	14.9414	0.70997	0.0:0.9313:0.0:0.0687	.	142;206	Q92989-2;Q92989	.;CLP1_HUMAN	C	217;206;206;142	ENSP00000433406:R217C;ENSP00000434995:R206C;ENSP00000436066:R206C;ENSP00000304704:R142C	ENSP00000304704:R142C	R	+	1	0	0	CLP1	57184822	57184822	0.996000	0.38824	0.672000	0.29872	0.990000	0.78478	3.095000	0.50235	1.586000	0.49944	0.645000	0.84053	CGT		0.438	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1		9.180725	-13	-13	73	73	NM_006831		7	17.609755	17.609755	52	0.118644	0	0	0	1	0	7	52	0.118644	T	57428246	C	T	57428246	3	4	80	1	0	0	0	0	1	0	0	0	3550	884	31	1	622	1	CLP1	11	57428246	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	30279380	57428246	77578270	286	1801											
ZDHHC5	25921	broad.mit.edu	37	11	57466582	57466582	+	Silent	SNP	G	G	A	rs200500149	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:57466582G>A	ENST00000287169.3	+	11	3036	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	ZDHHC5_ENST00000527985.1_Silent_p.P505P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	558					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCCCACTCCCGGGCCGTGAGG	0.592													A|||	9	0.00179712	0.0015	0	5008	,	,		20462	0.003		0	False		,,,				2504	0.0041					ENST00000287169.3											0			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1672-1674)ccG>ccA	zinc finger, DHHC-type containing 5	A		1,4401	825.4+/-416.5	0,1,2200	63	69	67		1674	-5.3	0.3	11		67	0,8592		0,0,4296	no	coding-synonymous	ZDHHC5	NM_015457.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		558/716	57466582	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	25921				integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466582G>A	AB051535	AB051535	CCDS7965.1	CCDS7965.1	11q13.1	2008-05-02			2008-05-02			ENSG00000156599	ENSG00000156599	ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	"Zinc fingers, DHHC-type"	18472	18472	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614586	614586						11214970	11214970	Standard	Standard	NM_015457	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	uc001nkx.1	Q9C0B5	Q9C0B5	OTTHUMG00000167198	OTTHUMG00000167198	ENST00000287169.3:c.1674G>A	11.37:g.57466582G>A			ZDHHC5_ENST00000527985.1_Silent_p.P505P	p.P558P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	3036	+			558		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Silent	SNP	ENST00000287169.3	37	c.1674G>A	CCDS7965.1																																																																																									0.592	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1		103.973015	17	17	117	117	NM_015457		33	104.001205	104.001205	36	0.478261	0	0	0	1	0	33	36	0.478261	A	57466582	G	A	57466582	2	1	80	1	0	0	0	0	0	0	0	1	17615	1103	39	1		1	ZDHHC5	11	57466582	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	38336	57466582	77539934	287	1802											
TMEM132A	54972	broad.mit.edu	37	11	60702219	60702219	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:60702219G>A	ENST00000453848.2	+	9	1977	c.1819G>A	c.(1819-1821)Ggt>Agt	p.G607S	TMEM132A_ENST00000005286.4_Missense_Mutation_p.G608S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	607						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGGGAGCCCGGTGTCACCTC	0.657																																						ENST00000005286.4											0			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(1822-1824)Ggt>Agt	transmembrane protein 132A						19	22	21					11																	60702219		2182	4264	6446	SO:0001583	missense	54972				endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60702219G>A	AK000546	AK000546	CCDS7997.1, CCDS44618.1	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118	ENSG00000006118	ENSG00000006118				31092	31092	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1	"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	12514190, 10997877	Standard	Standard	NM_017870	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	uc001nqi.3	Q24JP5	Q24JP5	OTTHUMG00000167803	OTTHUMG00000167803	ENST00000453848.2:c.1819G>A	11.37:g.60702219G>A	ENSP00000405823:p.Gly607Ser		TMEM132A_ENST00000453848.2_Missense_Mutation_p.G607S	p.G608S	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			9	1975	+			607		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.1822G>A	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683263	0.68157	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.35973	1.28;1.28	4.01	4.01	0.46588	4.01	4.01	0.46588	.	0.450845	0.21249	N	0.077675	T	0.61173	0.2326	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66885	-0.5810	10	0.87932	D	0	.	17.0352	0.86473	0.0:0.0:1.0:0.0	.	607;608	Q24JP5;Q24JP5-2	T132A_HUMAN;.	S	358;607;608	ENSP00000405823:G607S;ENSP00000005286:G608S	ENSP00000005286:G608S	G	+	1	0	0	TMEM132A	60458795	60458795	1.000000	0.71417	0.833000	0.33012	0.118000	0.20060	7.474000	0.81024	2.535000	0.85469	0.305000	0.20034	GGT		0.657	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1		6.012762	-10	-10	20	20	NM_017870		3	8.13298	8.13298	16	0.157895	0	0	0	1	0	3	16	0.157895	A	60702219	G	A	60702219	3	1	80	1	0	0	0	0	1	0	0	0	16042	1116	39	1	1856	1	TMEM132A	11	60702219	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3235637	60702219	74304297	288	1803											
DAK	26007	broad.mit.edu	37	11	61106798	61106798	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:61106798G>A	ENST00000394900.3	+	5	606	c.377G>A	c.(376-378)cGg>cAg	p.R126Q		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	126	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GAGCAGGCCCGGGCTGAAGGC	0.662																																						ENST00000394900.3											0			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(376-378)cGg>cAg	dihydroxyacetone kinase 2 homolog (S. cerevisiae)						54	59	57					11																	61106798		2203	4299	6502	SO:0001583	missense	26007			glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61106798G>A			CCDS8003.1	CCDS8003.1	11q12.2	2009-11-06	2006-04-04		2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476	ENSG00000149476	ENSG00000149476				24552	24552	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615844	615844	"dihydroxyacetone kinase 2 homolog (yeast)"		"dihydroxyacetone kinase 2 homolog (yeast)"					Standard	Standard	XM_005273898	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	uc001nre.3	Q3LXA3	Q3LXA3	OTTHUMG00000168076	OTTHUMG00000168076	ENST00000394900.3:c.377G>A	11.37:g.61106798G>A	ENSP00000378360:p.Arg126Gln			p.R126Q	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			5	606	+			126	DhaK.	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.377G>A	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338840	0.60963	.	.	ENSG00000149476	ENST00000394900;ENST00000532173;ENST00000529479	T;T;T	0.31769	1.48;1.48;1.48	5.25	-0.792	0.10925	5.25	-0.792	0.10925	Dak kinase (2);	0.250144	0.40640	N	0.001042	T	0.25531	0.0621	L	0.55017	1.72	0.32060	N	0.595796	B;B	0.20988	0.05;0.031	B;B	0.29942	0.07;0.109	T	0.13656	-1.0501	10	0.41790	T	0.15	-4.3986	6.2213	0.20683	0.3734:0.0:0.5147:0.1119	.	126;126	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	Q	126;126;125	ENSP00000378360:R126Q;ENSP00000431844:R126Q;ENSP00000432539:R125Q	ENSP00000378360:R126Q	R	+	2	0	0	DAK	60863374	60863374	1.000000	0.71417	0.952000	0.39060	0.962000	0.63368	1.860000	0.39428	-0.457000	0.07033	-0.263000	0.10527	CGG		0.662	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4		76.505820	5	5	94	94	NM_015533		28	80.211995	80.211995	68	0.291667	0	0	0	1	0	28	68	0.291667	A	61106798	G	A	61106798	3	1	80	1	0	0	0	0	1	0	0	0	4228	1116	39	1	391	1	DAK	11	61106798	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	404579	61106798	73899718	289	1804											
CHRM1	1128	broad.mit.edu	37	11	62678236	62678236	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:62678236C>T	ENST00000306960.3	-	2	878	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	113					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	AGATTCATGACGGAGGCATTG	0.612																																						ENST00000306960.3											0			large_intestine(5)|lung(3)|stomach(1)	9						c.(337-339)Gtc>Atc	cholinergic receptor, muscarinic 1						63	58	59					11																	62678236		2201	4298	6499	SO:0001583	missense	1128			activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62678236C>T	Y00508	Y00508	CCDS8040.1	CCDS8040.1	11q12-q13	2012-08-08			2012-08-08				ENSG00000168539		ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	1950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	"acetylcholine receptor, muscarinic 1"	118510	118510								Standard	Standard	NM_000738	NM_000738		Approved		uc001nwi.3	uc001nwi.3	P11229	P11229			ENST00000306960.3:c.337G>A	11.37:g.62678236C>T	ENSP00000306490:p.Val113Ile		AP000438.2_ENST00000543624.1_RNA	p.V113I	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN			2	878	-			113		Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	c.337G>A	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016115	0.75161	.	.	ENSG00000168539	ENST00000306960;ENST00000543973;ENST00000536524	T;T;T	0.19806	2.12;2.12;2.12	4.57	4.57	0.56435	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000068	T	0.21427	0.0516	N	0.05383	-0.06	0.47778	D	0.999516	D	0.55800	0.973	P	0.58721	0.844	T	0.11348	-1.0591	10	0.30078	T	0.28	-34.1641	14.8803	0.70528	0.0:1.0:0.0:0.0	.	113	P11229	ACM1_HUMAN	I	113	ENSP00000306490:V113I;ENSP00000441188:V113I;ENSP00000444482:V113I	ENSP00000306490:V113I	V	-	1	0	0	CHRM1	62434812	62434812	1.000000	0.71417	0.980000	0.43619	0.944000	0.59088	7.632000	0.83247	2.376000	0.81061	0.563000	0.77884	GTC		0.612	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1		5.213620	-13	-13	26	26	NM_000738		3	7.11058	7.11058	15	0.166667	0	0	0	1	0	3	15	0.166667	T	62678236	C	T	62678236	3	4	80	1	0	0	0	0	1	0	0	0	3376	536	19	1	1049	1	CHRM1	11	62678236	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1571438	62678236	72328280	290	1805											
HRASLS5	117245	broad.mit.edu	37	11	63257788	63257788	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:63257788C>T	ENST00000301790.4	-	2	355	c.196G>A	c.(196-198)Gca>Aca	p.A66T	HRASLS5_ENST00000539221.1_Missense_Mutation_p.A66T|HRASLS5_ENST00000540857.1_Missense_Mutation_p.A56T			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	66							transferase activity, transferring acyl groups (GO:0016746)	p.A66T(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACCAACGCTGCGAATCCCACG	0.537																																						ENST00000540857.1											1	Substitution - Missense(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(166-168)Gca>Aca	HRAS-like suppressor family, member 5						167	184	178					11																	63257788		2201	4298	6499	SO:0001583	missense	117245						g.chr11:63257788C>T	AJ416558	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			2006-08-16			ENSG00000168004	ENSG00000168004	ENSG00000168004	ENSG00000168004				24978	24978	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611474	611474								Standard	Standard	NM_001146729	NM_001146729		Approved	HRLP5	uc001nwy.2	uc001nwy.2	Q96KN8	Q96KN8	OTTHUMG00000167806	OTTHUMG00000167806	ENST00000301790.4:c.196G>A	11.37:g.63257788C>T	ENSP00000301790:p.Ala66Thr		HRASLS5_ENST00000301790.4_Missense_Mutation_p.A66T|HRASLS5_ENST00000539221.1_Missense_Mutation_p.A66T	p.A56T	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN			2	298	-			66		B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.166G>A	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827867	0.32329	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.28454	1.61;2.11;1.62	3.89	1.98	0.26296	3.89	1.98	0.26296	.	3.704160	0.00868	N	0.001990	T	0.23727	0.0574	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33904	0.431;0.431;0.305	B;B;B	0.26770	0.073;0.037;0.033	T	0.34254	-0.9836	10	0.56958	D	0.05	-9.0494	10.3308	0.43820	0.0:0.4139:0.5861:0.0	.	66;56;66	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	T	56;66;66	ENSP00000444809:A56T;ENSP00000443873:A66T;ENSP00000301790:A66T	ENSP00000301790:A66T	A	-	1	0	0	HRASLS5	63014364	63014364	0.002000	0.14202	0.004000	0.12327	0.023000	0.10783	0.629000	0.24538	0.598000	0.29829	-0.165000	0.13383	GCA		0.537	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1		89.726544	-48	-48	216	216	NM_054108		39	103.065165	103.065165	141	0.216667	0	0	0	1	0	39	141	0.216667	T	63257788	C	T	63257788	3	4	80	1	0	0	0	0	1	0	0	0	7351	768	27	1	663	1	HRASLS5	11	63257788	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	579552	63257788	71748728	291	1806											
MEN1	4221	broad.mit.edu	37	11	64575121	64575121	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:64575121C>T	ENST00000337652.1	-	4	1204	c.701G>A	c.(700-702)cGc>cAc	p.R234H	MEN1_ENST00000377316.2_Missense_Mutation_p.R229H|MEN1_ENST00000377313.1_Missense_Mutation_p.R234H|MEN1_ENST00000394376.1_Missense_Mutation_p.R234H|MEN1_ENST00000394374.2_Missense_Mutation_p.R234H|MEN1_ENST00000377321.1_Missense_Mutation_p.R194H|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.R229H|MEN1_ENST00000443283.1_Missense_Mutation_p.R234H|MEN1_ENST00000315422.4_Missense_Mutation_p.R229H|MEN1_ENST00000312049.6_Missense_Mutation_p.R229H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	234	Interaction with FANCD2.		R -> L (in MEN1). {ECO:0000269|PubMed:10993647}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GCGGTCACAGCGCATGTATGA	0.562			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CM004415|CM045305	MEN1	M		c.(700-702)cGc>cAc	multiple endocrine neoplasia I						125	109	114					11																	64575121		2201	4297	6498	SO:0001583	missense	0	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575121C>T	U93236	U93236	CCDS8083.1, CCDS31600.1	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			2014-09-17			ENSG00000133895	ENSG00000133895	ENSG00000133895	ENSG00000133895				7010	7010	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"menin"	"menin"	613733	613733								Standard	Standard	NM_130799	NM_130799		Approved		uc001obn.3	uc001obn.3	O00255	O00255	OTTHUMG00000045366	OTTHUMG00000045366	ENST00000337652.1:c.701G>A	11.37:g.64575121C>T	ENSP00000337088:p.Arg234His		MEN1_ENST00000377326.3_Missense_Mutation_p.R229H|MEN1_ENST00000394374.2_Missense_Mutation_p.R234H|MEN1_ENST00000312049.6_Missense_Mutation_p.R229H|MEN1_ENST00000377316.2_Missense_Mutation_p.R229H|MEN1_ENST00000443283.1_Missense_Mutation_p.R234H|MEN1_ENST00000394376.1_Missense_Mutation_p.R234H|MEN1_ENST00000377321.1_Missense_Mutation_p.R194H|MEN1_ENST00000315422.4_Missense_Mutation_p.R229H|MEN1_ENST00000377313.1_Missense_Mutation_p.R234H	p.R234H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN			4	1204	-			234	Interaction with FANCD2.	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.701G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847087	0.51164	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99394	-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.064279	0.64402	D	0.000019	D	0.97433	0.9160	N	0.14661	0.345	0.41211	D	0.986448	B;D;P	0.64830	0.388;0.994;0.633	B;P;B	0.48488	0.041;0.579;0.095	D	0.97644	1.0150	10	0.39692	T	0.17	-24.3381	15.7433	0.77920	0.0:1.0:0.0:0.0	.	229;194;234	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	H	229;194;229;229;229;234;234;234;234;234;229;229;229	ENSP00000366533:R229H;ENSP00000366538:R194H;ENSP00000366543:R229H;ENSP00000308975:R229H;ENSP00000323747:R229H;ENSP00000337088:R234H;ENSP00000377901:R234H;ENSP00000377899:R234H;ENSP00000396940:R234H;ENSP00000366530:R234H;ENSP00000413944:R229H;ENSP00000394933:R229H;ENSP00000411218:R229H	ENSP00000308975:R229H	R	-	2	0	0	MEN1	64331697	64331697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.678000	0.61641	2.386000	0.81285	0.462000	0.41574	CGC		0.562	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		39.335551	10	10	89	89			14	40.496006	40.496006	29	0.325581	0	0	0	1	0	14	29	0.325581	T	64575121	C	T	64575121	3	4	80	1	0	0	0	0	1	0	0	0	9472	768	27	1	1174	1	MEN1	11	64575121	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1317333	64575121	70431395	292	1807											
EHD1	10938	broad.mit.edu	37	11	64622812	64622812	+	Silent	SNP	C	C	T	rs144668933		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:64622812C>T	ENST00000320631.3	-	4	1316	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	EHD1_ENST00000488711.1_5'Flank|EHD1_ENST00000359393.2_Silent_p.P354P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	354					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGCGGAGGCTCGGGAAGTCCC	0.577											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000320631.3											0			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1060-1062)ccG>ccA	EH-domain containing 1	C		1,4401	2.1+/-5.4	0,1,2200	78	78	78		1062	-6.6	0.8	11	dbSNP_134	78	3,8591	3.0+/-9.4	0,3,4294	no	coding-synonymous	EHD1	NM_006795.2		0,4,6494	TT,TC,CC		0.0349,0.0227,0.0308		354/535	64622812	4,12992	2201	4297	6498	SO:0001819	synonymous_variant	10938			blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622812C>T	AF099011	AF099011	CCDS8084.1, CCDS73315.1	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			2013-01-10			ENSG00000110047	ENSG00000110047	ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	"EF-hand domain containing"	3242	3242	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"testilin"	"testilin"	605888	605888		PAST1		PAST1		10395801, 10673336	10395801, 10673336	Standard	Standard	NM_001282444	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	uc001obu.1	Q9H4M9	Q9H4M9	OTTHUMG00000066832	OTTHUMG00000066832	ENST00000320631.3:c.1062G>A	11.37:g.64622812C>T		1078	EHD1_ENST00000359393.2_Silent_p.P354P	p.P354P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN			4	1316	-			354		O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.1062G>A	CCDS8084.1																																																																																									0.577	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2		21.387363	-10	-10	57	57	NM_006795		8	22.699106	22.699106	21	0.275862	0	0	0	1	0	8	21	0.275862	T	64622812	C	T	64622812	2	4	80	1	0	0	0	0	0	0	0	1	4977	871	31	1		1	EHD1	11	64622812	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	47691	64622812	70383704	293	1808											
EFEMP2	30008	broad.mit.edu	37	11	65638031	65638031	+	Missense_Mutation	SNP	G	G	A	rs573771187	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:65638031G>A	ENST00000307998.6	-	5	696	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.R156C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	156	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CCGATCTTGCGGTAACCATCA	0.622													G|||	2	0.000399361	0.0015	0	5008	,	,		17592	0		0	False		,,,				2504	0					ENST00000307998.6											0			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(466-468)Cgc>Tgc	EGF containing fibulin-like extracellular matrix protein 2						87	74	78					11																	65638031		2201	4296	6497	SO:0001583	missense	30008			blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65638031G>A	AF109121	AF109121	CCDS8116.1	CCDS8116.1	11q13	2011-06-17	2011-01-25		2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638	ENSG00000172638	ENSG00000172638		"Fibulins"	"Fibulins"	3219	3219	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fibulin 4"	"fibulin 4"	604633	604633	"EGF-containing fibulin-like extracellular matrix protein 2"		"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	10601734, 10982184	Standard	Standard	NR_037718	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	uc001ofy.4	O95967	O95967	OTTHUMG00000166664	OTTHUMG00000166664	ENST00000307998.6:c.466C>T	11.37:g.65638031G>A	ENSP00000309953:p.Arg156Cys		EFEMP2_ENST00000528176.1_Missense_Mutation_p.R156C	p.R156C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	5	696	-			156	EGF-like 2; calcium-binding (Potential).	A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.466C>T	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346497	0.82022	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.87571	-2.27;-2.27;-2.24;-2.27	5.3	4.35	0.52113	5.3	4.35	0.52113	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.42053	D	0.000778	D	0.92678	0.7673	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.92183	0.5753	10	0.52906	T	0.07	.	11.3294	0.49467	0.0:0.0:0.7056:0.2944	.	156;156	E9PRU1;O95967	.;FBLN4_HUMAN	C	156	ENSP00000434151:R156C;ENSP00000309953:R156C;ENSP00000435419:R156C;ENSP00000435963:R156C	ENSP00000309953:R156C	R	-	1	0	0	EFEMP2	65394607	65394607	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.374000	0.59543	2.761000	0.94854	0.561000	0.74099	CGC		0.622	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4		34.255824	5	5	29	29	NM_016938		10	34.832819	34.832819	4	0.714286	0	0	0	1	0	10	4	0.714286	A	65638031	G	A	65638031	3	1	80	1	0	0	0	0	1	0	0	0	4942	1116	39	1	893	1	EFEMP2	11	65638031	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1015219	65638031	69368485	294	1809											
TCIRG1	10312	broad.mit.edu	37	11	67812527	67812527	+	Missense_Mutation	SNP	G	G	A	rs200415611		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:67812527G>A	ENST00000265686.3	+	10	1231	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	TCIRG1_ENST00000532635.1_Missense_Mutation_p.V159M	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	375					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCAGGGCATCGTGGATGCCTA	0.682													G|||	1	0.000199681	0	0	5008	,	,		19252	0		0.001	False		,,,				2504	0					ENST00000265686.3											0			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1123-1125)Gtg>Atg	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3						90	78	82					11																	67812527		2200	4294	6494	SO:0001583	missense	10312			ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67812527G>A	AF025374	AF025374	CCDS8177.1, CCDS53670.1	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719	ENSG00000110719	ENSG00000110719		"ATPases / V-type"	"ATPases / V-type"	11647	11647	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	"T-cell immune response cDNA 7"	604592	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"		"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	8579597, 9806637	Standard	Standard	NM_006019	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	uc001one.3	Q13488	Q13488	OTTHUMG00000167358	OTTHUMG00000167358	ENST00000265686.3:c.1123G>A	11.37:g.67812527G>A	ENSP00000265686:p.Val375Met		TCIRG1_ENST00000532635.1_Missense_Mutation_p.V159M	p.V375M	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			10	1231	+			375		O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1123G>A	CCDS8177.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.5	4.922226	0.92319	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.88509	-2.39;-2.39	4.07	4.07	0.47477	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96149	0.9106	10	0.87932	D	0	-36.4798	15.0171	0.71594	0.0:0.0:1.0:0.0	.	375	Q13488	VPP3_HUMAN	M	375;159	ENSP00000265686:V375M;ENSP00000434407:V159M	ENSP00000265686:V375M	V	+	1	0	0	TCIRG1	67569103	67569103	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.420000	0.97426	2.119000	0.64992	0.462000	0.41574	GTG		0.682	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1		16.272156	-3	-3	64	64	NM_006019		8	20.888515	20.888515	38	0.173913	0	0	0	1	0	8	38	0.173913	A	67812527	G	A	67812527	3	1	80	1	0	0	0	0	1	0	0	0	15700	1145	40	1	1157	1	TCIRG1	11	67812527	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2174496	67812527	67193989	295	1810											
PPFIA1	8500	broad.mit.edu	37	11	70208475	70208475	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:70208475G>A	ENST00000253925.7	+	21	2961	c.2746G>A	c.(2746-2748)Gac>Aac	p.D916N	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D916N	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	916	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGCCCTGTCCGACACAGAGAT	0.617																																						ENST00000253925.7											0			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2746-2748)Gac>Aac	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						88	80	82					11																	70208475		2200	4294	6494	SO:0001583	missense	8500			cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70208475G>A	U22816	U22816	CCDS31627.1, CCDS31628.1	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			2013-01-10			ENSG00000131626	ENSG00000131626	ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	"Sterile alpha motif (SAM) domain containing"	9245	9245	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Liprin-alpha1"	"Liprin-alpha1"	611054	611054						7796809, 9624153	7796809, 9624153	Standard	Standard	NM_003626	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	uc001opo.3	Q13136	Q13136	OTTHUMG00000167266	OTTHUMG00000167266	ENST00000253925.7:c.2746G>A	11.37:g.70208475G>A	ENSP00000253925:p.Asp916Asn		AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D916N	p.D916N	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		21	2961	+			916	SAM 1.	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.2746G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514892	0.96402	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.50001	0.76;0.76	5.32	5.32	0.75619	5.32	5.32	0.75619	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.83275	0.996;0.959;0.932	T	0.73020	-0.4114	10	0.87932	D	0	.	18.9937	0.92804	0.0:0.0:1.0:0.0	.	413;916;916	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	N	916;916;413	ENSP00000253925:D916N;ENSP00000374198:D916N	ENSP00000253925:D916N	D	+	1	0	0	PPFIA1	69886123	69886123	1.000000	0.71417	0.946000	0.38457	0.857000	0.48899	9.542000	0.98086	2.488000	0.83962	0.561000	0.74099	GAC		0.617	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		5.644673	-5	-5	66	66	NM_003626		5	11.876127	11.876127	38	0.116279	0	0	0	1	0	5	38	0.116279	A	70208475	G	A	70208475	3	1	80	1	0	0	0	0	1	0	0	0	12309	1058	37	1	2824	1	PPFIA1	11	70208475	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2395948	70208475	64798041	296	1811											
P2RY2	5029	broad.mit.edu	37	11	72945667	72945667	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:72945667G>A	ENST00000311131.2	+	3	930	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	P2RY2_ENST00000393597.2_Missense_Mutation_p.G155R|P2RY2_ENST00000393596.2_Missense_Mutation_p.G155R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	155					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGGGTGGCCGGGGCCGTGTG	0.721																																						ENST00000311131.2											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(463-465)Ggg>Agg	purinergic receptor P2Y, G-protein coupled, 2						27	30	29					11																	72945667		2197	4287	6484	SO:0001583	missense	5029			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945667G>A	U07225	U07225	CCDS8219.1	CCDS8219.1	11q13.5-q14.1	2012-08-08			2012-08-08				ENSG00000175591		ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	8541	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600041	600041						8159738, 9286708	8159738, 9286708	Standard	Standard	NM_002564	NM_002564		Approved	P2U	uc001otj.4	uc001otj.4	P41231	P41231			ENST00000311131.2:c.463G>A	11.37:g.72945667G>A	ENSP00000310305:p.Gly155Arg		P2RY2_ENST00000393596.2_Missense_Mutation_p.G155R|P2RY2_ENST00000393597.2_Missense_Mutation_p.G155R	p.G155R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN			3	930	+			155		B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.463G>A	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749562	0.30955	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.38722	1.12;1.12;1.12	5.24	4.31	0.51392	5.24	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.199336	0.41938	D	0.000798	T	0.47985	0.1475	M	0.64404	1.975	0.09310	N	1	B	0.32543	0.375	B	0.40565	0.333	T	0.49643	-0.8918	10	0.66056	D	0.02	.	14.1042	0.65078	0.0:0.0:0.8483:0.1517	.	155	P41231	P2RY2_HUMAN	R	155	ENSP00000377222:G155R;ENSP00000310305:G155R;ENSP00000377221:G155R	ENSP00000310305:G155R	G	+	1	0	0	P2RY2	72623315	72623315	0.175000	0.23083	0.002000	0.10522	0.217000	0.24651	2.889000	0.48601	1.179000	0.42884	0.561000	0.74099	GGG		0.721	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1		5.542406	-25	-25	45	45	NM_176072		5	12.270545	12.270545	40	0.111111	0	0	0	1	0	5	40	0.111111	A	72945667	G	A	72945667	3	1	80	1	0	0	0	0	1	0	0	0	11352	1116	39	1	465	1	P2RY2	11	72945667	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2737192	72945667	62060849	297	1812											
ARHGEF17	9828	broad.mit.edu	37	11	73021350	73021350	+	Missense_Mutation	SNP	G	G	A	rs373537661		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:73021350G>A	ENST00000263674.3	+	1	2017	c.1667G>A	c.(1666-1668)cGc>cAc	p.R556H	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	556					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCCATGGCCCGCCGCCTGCCC	0.657																																						ENST00000263674.3											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1666-1668)cGc>cAc	Rho guanine nucleotide exchange factor (GEF) 17	G	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	40	44	42		1667	3.7	0.7	11		42	0,8584		0,0,4292	no	missense	ARHGEF17	NM_014786.3	29	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	556/2064	73021350	1,12983	2200	4292	6492	SO:0001583	missense	9828			actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021350G>A	AF378754	AF378754	CCDS8221.1	CCDS8221.1	11q13.3	2011-11-16			2011-11-16			ENSG00000110237	ENSG00000110237	ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	"Rho guanine nucleotide exchange factors"	21726	21726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"								11559528, 12071859	11559528, 12071859	Standard	Standard	NM_014786	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	uc001otu.3	Q96PE2	Q96PE2	OTTHUMG00000167971	OTTHUMG00000167971	ENST00000263674.3:c.1667G>A	11.37:g.73021350G>A	ENSP00000263674:p.Arg556His			p.R556H	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	2017	+			556		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1667G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781588	0.31502	2.27E-4	0.0	ENSG00000110237	ENST00000263674	T	0.60920	0.15	4.62	3.71	0.42584	4.62	3.71	0.42584	.	0.239416	0.34268	N	0.004104	T	0.41627	0.1167	L	0.27053	0.805	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.39820	-0.9595	10	0.87932	D	0	-4.1359	8.1662	0.31228	0.1846:0.0:0.8154:0.0	.	556	Q96PE2	ARHGH_HUMAN	H	556	ENSP00000263674:R556H	ENSP00000263674:R556H	R	+	2	0	0	ARHGEF17	72698998	72698998	0.834000	0.29399	0.677000	0.29947	0.446000	0.32137	4.087000	0.57671	1.159000	0.42565	-0.258000	0.10820	CGC		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		7.785671	0	0	50	50	NM_014786		4	10.09431	10.09431	19	0.173913	0	0	0	1	0	4	19	0.173913	A	73021350	G	A	73021350	3	1	80	1	0	0	0	0	1	0	0	0	900	1087	38	1	1669	1	ARHGEF17	11	73021350	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	75683	73021350	61985166	298	1813											
KCNE3	10008	broad.mit.edu	37	11	74168452	74168452	+	Missense_Mutation	SNP	G	G	A	rs371666083		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:74168452G>A	ENST00000310128.4	-	3	576	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	KCNE3_ENST00000525550.1_Missense_Mutation_p.R53C|RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	53					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TTGTCATCACGGCCAGGTAGG	0.557																																						ENST00000310128.4											0			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(157-159)Cgt>Tgt	potassium voltage-gated channel, Isk-related family, member 3	G	CYS/ARG	0,4400		0,0,2200	72	63	66		157	4.4	0.9	11		66	1,8585	1.2+/-3.3	0,1,4292	no	missense	KCNE3	NM_005472.4	180	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	53/104	74168452	1,12985	2200	4293	6493	SO:0001583	missense	10008				integral to membrane	voltage-gated potassium channel activity	g.chr11:74168452G>A	AF076531	AF076531	CCDS8232.1	CCDS8232.1	11q13.4	2014-09-17			2014-09-17				ENSG00000175538		ENSG00000175538		"Potassium channels"	"Potassium channels"	6243	6243	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604433	604433						10219239	10219239	Standard	Standard	NM_005472	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	uc001ovc.3	Q9Y6H6	Q9Y6H6			ENST00000310128.4:c.157C>T	11.37:g.74168452G>A	ENSP00000310557:p.Arg53Cys		KCNE3_ENST00000525550.1_Missense_Mutation_p.R53C|RP11-702H23.4_ENST00000533008.1_RNA	p.R53C	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN			3	576	-	Breast(11;2.86e-06)		53			Missense_Mutation	SNP	ENST00000310128.4	37	c.157C>T	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475627	0.63737	0.0	1.16E-4	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569	D;D;D	0.92249	-3.0;-3.0;-3.0	5.33	4.42	0.53409	5.33	4.42	0.53409	.	0.080554	0.51477	D	0.000093	D	0.88097	0.6345	L	0.54323	1.7	0.45690	D	0.9986	B	0.21753	0.06	B	0.15484	0.013	D	0.85115	0.0965	10	0.87932	D	0	-15.8816	6.9987	0.24797	0.0859:0.0:0.7444:0.1696	.	53	Q9Y6H6	KCNE3_HUMAN	C	53	ENSP00000310557:R53C;ENSP00000433633:R53C;ENSP00000431739:R53C	ENSP00000310557:R53C	R	-	1	0	0	KCNE3	73846100	73846100	1.000000	0.71417	0.928000	0.36995	0.691000	0.40173	2.888000	0.48594	1.485000	0.48380	0.561000	0.74099	CGT		0.557	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1		41.257627	5	5	47	47	NM_005472		13	41.257627	41.257627	13	0.5	0	0	0	1	0	13	13	0.5	A	74168452	G	A	74168452	3	1	80	1	0	0	0	0	1	0	0	0	8024	1116	39	1	158	1	KCNE3	11	74168452	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1147102	74168452	60838064	299	1814											
SLCO2B1	11309	broad.mit.edu	37	11	74907638	74907638	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:74907638G>A	ENST00000289575.5	+	10	1908	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D483N|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D389N|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.D278N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D361N|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.D278N|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.D250N	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	505	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCTGTCTGCGACCCCAGCAC	0.617																																						ENST00000289575.5											0			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1513-1515)Gac>Aac	solute carrier organic anion transporter family, member 2B1						78	66	70					11																	74907638		2200	4293	6493	SO:0001583	missense	11309			sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74907638G>A	AB026256	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26	2013-05-22	2003-11-25	2003-11-26						"Solute carriers"	"Solute carriers"	10962	10962	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604988	604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9				Standard	Standard	NM_007256	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	uc001owb.3	O94956	O94956			ENST00000289575.5:c.1513G>A	11.37:g.74907638G>A	ENSP00000289575:p.Asp505Asn		SLCO2B1_ENST00000341411.4_Missense_Mutation_p.D278N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D361N|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.D278N|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D483N|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D389N|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.D250N	p.D505N	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN			10	1908	+			505	Kazal-like.	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1513G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032254	0.54790	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.42900	1.12;1.14;1.26;1.5;0.96;1.14;1.13	4.22	4.22	0.49857	4.22	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);	0.203908	0.43110	D	0.000612	T	0.36386	0.0965	L	0.43152	1.355	0.43043	D	0.994635	P;P;P;P	0.46784	0.678;0.843;0.884;0.678	B;B;B;B	0.41571	0.254;0.36;0.245;0.254	T	0.36986	-0.9725	10	0.66056	D	0.02	.	12.2779	0.54747	0.0:0.0:1.0:0.0	.	361;250;278;505	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	N	505;278;389;250;361;278;483	ENSP00000289575:D505N;ENSP00000341286:D278N;ENSP00000434112:D389N;ENSP00000432650:D250N;ENSP00000436324:D361N;ENSP00000389653:D278N;ENSP00000388912:D483N	ENSP00000289575:D505N	D	+	1	0	0	SLCO2B1	74585286	74585286	1.000000	0.71417	0.292000	0.24919	0.598000	0.36846	6.305000	0.72805	2.367000	0.80283	0.555000	0.69702	GAC		0.617	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1		45.188018	-9	-9	49	49	NM_007256		16	46.014927	46.014927	29	0.355556	0	0	0	1	0	16	29	0.355556	A	74907638	G	A	74907638	3	1	80	1	0	0	0	0	1	0	0	0	14727	1058	37	1	1551	1	SLCO2B1	11	74907638	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	739186	74907638	60098878	300	1815											
MYO7A	4647	broad.mit.edu	37	11	76890115	76890115	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:76890115C>T	ENST00000409709.3	+	20	2579	c.2307C>T	c.(2305-2307)aaC>aaT	p.N769N	MYO7A_ENST00000409893.1_Silent_p.N769N|MYO7A_ENST00000409619.2_Silent_p.N758N|MYO7A_ENST00000458637.2_Silent_p.N769N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	769	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTGAAGAACGCTGCCACAC	0.587																																						ENST00000409709.3											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2305-2307)aaC>aaT	myosin VIIA						36	41	39					11																	76890115		2127	4225	6352	SO:0001819	synonymous_variant	4647			actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76890115C>T	U39226	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474	ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	7606	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			276903	276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	8884266	Standard	Standard	NM_000260	NM_000260		Approved	NSRD2	uc001oyb.2	uc001oyb.2	Q13402	Q13402	OTTHUMG00000152822	OTTHUMG00000152822	ENST00000409709.3:c.2307C>T	11.37:g.76890115C>T			MYO7A_ENST00000409619.2_Silent_p.N758N|MYO7A_ENST00000409893.1_Silent_p.N769N|MYO7A_ENST00000458637.2_Silent_p.N769N	p.N769N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			20	2579	+			769	IQ 2.	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.2307C>T	CCDS53683.1																																																																																									0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		16.476987	-3	-3	15	15	NM_000260		5	16.586818	16.586818	3	0.625	0	0	0	1	0	5	3	0.625	T	76890115	C	T	76890115	2	4	80	1	0	0	0	0	0	0	0	1	10082	535	19	1		1	MYO7A	11	76890115	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1982477	76890115	58116401	301	1816											
MYO7A	4647	broad.mit.edu	37	11	76912671	76912671	+	Silent	SNP	G	G	A	rs558097664		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:76912671G>A	ENST00000409709.3	+	36	5303	c.5031G>A	c.(5029-5031)ccG>ccA	p.P1677P	MYO7A_ENST00000409619.2_Silent_p.P1628P|MYO7A_ENST00000458637.2_Silent_p.P1639P	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1677					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCATGCCACCGCGGGAGATTG	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		17703	0		0	False		,,,				2504	0					ENST00000409709.3											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(5029-5031)ccG>ccA	myosin VIIA						52	56	54					11																	76912671		2098	4209	6307	SO:0001819	synonymous_variant	4647			actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76912671G>A	U39226	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474	ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	7606	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			276903	276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	8884266	Standard	Standard	NM_000260	NM_000260		Approved	NSRD2	uc001oyb.2	uc001oyb.2	Q13402	Q13402	OTTHUMG00000152822	OTTHUMG00000152822	ENST00000409709.3:c.5031G>A	11.37:g.76912671G>A			MYO7A_ENST00000409619.2_Silent_p.P1628P|MYO7A_ENST00000458637.2_Silent_p.P1639P	p.P1677P	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			36	5303	+			1677		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.5031G>A	CCDS53683.1																																																																																									0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		1.198693	-15	-15	35	35	NM_000260		3	7.026409	7.026409	31	0.088235	0	0	0	1	0	3	31	0.088235	A	76912671	G	A	76912671	2	1	80	1	0	0	0	0	0	0	0	1	10082	1074	38	1		1	MYO7A	11	76912671	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22556	76912671	58093845	302	1817											
GPR83	10888	broad.mit.edu	37	11	94113805	94113805	+	Missense_Mutation	SNP	C	C	T	rs139287789		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:94113805C>T	ENST00000243673.2	-	4	953	c.782G>A	c.(781-783)cGt>cAt	p.R261H	GPR83_ENST00000539203.2_Missense_Mutation_p.R219H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	261					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGGCCACACGAGCGTAGGC	0.527																																						ENST00000243673.2											0			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(781-783)cGt>cAt	G protein-coupled receptor 83	C	HIS/ARG	0,4402		0,0,2201	72	64	67		782	4.4	0.4	11	dbSNP_134	67	1,8595	1.2+/-3.3	0,1,4297	no	missense	GPR83	NM_016540.3	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	261/424	94113805	1,12997	2201	4298	6499	SO:0001583	missense	10888				integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113805C>T	AF236081	AF236081	CCDS8297.1	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	"GPCR / Class A : Orphans"	4523	4523	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605569	605569	"G protein-coupled receptor 72"	GPR72	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	10760605, 11060465	Standard	Standard	NM_016540	NM_016540		Approved		uc001pet.2	uc001pet.2	Q9NYM4	Q9NYM4	OTTHUMG00000167779	OTTHUMG00000167779	ENST00000243673.2:c.782G>A	11.37:g.94113805C>T	ENSP00000243673:p.Arg261His		GPR83_ENST00000539203.2_Missense_Mutation_p.R219H	p.R261H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	953	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	261		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.782G>A	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102782	0.20632	0.0	1.16E-4	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.39056	1.1;1.1	5.41	4.44	0.53790	5.41	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.258283	0.36703	N	0.002441	T	0.27524	0.0676	L	0.33093	0.98	0.23411	N	0.997737	B	0.18461	0.028	B	0.15870	0.014	T	0.09930	-1.0652	10	0.15499	T	0.54	.	8.617	0.33838	0.1509:0.586:0.2631:0.0	.	261	Q9NYM4	GPR83_HUMAN	H	261;219	ENSP00000243673:R261H;ENSP00000441550:R219H	ENSP00000243673:R261H	R	-	2	0	0	GPR83	93753453	93753453	0.995000	0.38212	0.363000	0.25875	0.982000	0.71751	2.604000	0.46274	2.535000	0.85469	0.655000	0.94253	CGT		0.527	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1		3.809394	1	1	26	26	NM_016540		3	6.627531	6.627531	19	0.136364	0	0	0	1	0	3	19	0.136364	T	94113805	C	T	94113805	3	4	80	1	0	0	0	0	1	0	0	0	6713	536	19	1	493	1	GPR83	11	94113805	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	17201134	94113805	40892711	303	1818											
YAP1	10413	broad.mit.edu	37	11	102094425	102094425	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:102094425G>A	ENST00000282441.5	+	7	1493	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	YAP1_ENST00000345877.2_Missense_Mutation_p.G319R|YAP1_ENST00000531439.1_Missense_Mutation_p.G353R|YAP1_ENST00000526343.1_Missense_Mutation_p.G315R|YAP1_ENST00000537274.1_Missense_Mutation_p.G357R|YAP1_ENST00000524575.1_Missense_Mutation_p.G191R	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	369	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GTCTTCTCCCGGGATGTCTCA	0.438																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5											0			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(1105-1107)Ggg>Agg	Yes-associated protein 1						110	99	103					11																	102094425		2203	4299	6502	SO:0001583	missense	10413			cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102094425G>A			CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693	ENSG00000137693	ENSG00000137693				16262	16262	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606608	606608	"Yes-associated protein 1, 65kDa"		"Yes-associated protein 1, 65kDa"			7782338	7782338	Standard	Standard	NM_001130145	NM_001130145		Approved	YAP65	uc001pgt.3	uc001pgt.3	P46937	P46937	OTTHUMG00000167322	OTTHUMG00000167322	ENST00000282441.5:c.1105G>A	11.37:g.102094425G>A	ENSP00000282441:p.Gly369Arg		YAP1_ENST00000524575.1_Missense_Mutation_p.G191R|YAP1_ENST00000537274.1_Missense_Mutation_p.G357R|YAP1_ENST00000345877.2_Missense_Mutation_p.G319R|YAP1_ENST00000526343.1_Missense_Mutation_p.G315R|YAP1_ENST00000531439.1_Missense_Mutation_p.G353R	p.G369R	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	7	1493	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	369	Transactivation domain.	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	c.1105G>A	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577182	0.86645	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	T;T;T	0.43688	0.94;0.98;0.94	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.134476	0.48767	D	0.000162	T	0.56124	0.1964	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;1.0;0.999;0.956;0.999;1.0	T	0.58691	-0.7592	10	0.87932	D	0	.	19.7375	0.96212	0.0:0.0:1.0:0.0	.	191;286;315;353;369;319	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.;.;.;.;YAP1_HUMAN;.	R	315;369;357;319;286;353;191	ENSP00000434134:G315R;ENSP00000331023:G319R;ENSP00000435602:G191R	ENSP00000282441:G369R	G	+	1	0	0	YAP1	101599635	101599635	1.000000	0.71417	0.969000	0.41365	0.977000	0.68977	7.506000	0.81665	2.753000	0.94483	0.555000	0.69702	GGG		0.438	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1		107.776643	-3	-3	77	77	NM_006106		33	107.780013	107.780013	32	0.507692	0	0	0	1	0	33	32	0.507692	A	102094425	G	A	102094425	3	1	80	1	0	0	0	0	1	0	0	0	17463	1116	39	1	1143	1	YAP1	11	102094425	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7980620	102094425	32912091	304	1819											
C11orf57	55216	broad.mit.edu	37	11	111953260	111953260	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:111953260G>A	ENST00000280352.9	+	6	1079	c.443G>A	c.(442-444)cGc>cAc	p.R148H	TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000393047.3_Missense_Mutation_p.R149H|C11orf57_ENST00000420986.2_Missense_Mutation_p.R148H|C11orf57_ENST00000532163.1_Missense_Mutation_p.R120H	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	148	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CATGAATCCCGCAAACACAAG	0.358																																						ENST00000532163.1											0			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(358-360)cGc>cAc	chromosome 11 open reading frame 57						55	60	58					11																	111953260		2201	4297	6498	SO:0001583	missense	55216						g.chr11:111953260G>A	BX538107	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			2006-03-09			ENSG00000150776	ENSG00000150776	ENSG00000150776	ENSG00000150776				25569	25569	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_001082970	NM_001082970		Approved	FLJ10726	uc001pmw.4	uc001pmw.4	Q6ZUT1	Q6ZUT1	OTTHUMG00000150213	OTTHUMG00000150213	ENST00000280352.9:c.443G>A	11.37:g.111953260G>A	ENSP00000339076:p.Arg148His		C11orf57_ENST00000393047.3_Missense_Mutation_p.R149H|C11orf57_ENST00000420986.2_Missense_Mutation_p.R148H|C11orf57_ENST00000280352.9_Missense_Mutation_p.R148H	p.R120H			Q6ZUT1	CK057_HUMAN		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)	6	1125	+		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	148		Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	c.359G>A	CCDS41715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.597|8.597	0.886036|0.886036	0.17540|0.17540	.|.	.|.	ENSG00000150776|ENSG00000150776	ENST00000393048|ENST00000420986;ENST00000532163;ENST00000280352;ENST00000393047;ENST00000525785;ENST00000531378	.|.	.|.	.|.	5.06|5.06	-1.16|-1.16	0.09678|0.09678	5.06|5.06	-1.16|-1.16	0.09678|0.09678	.|.	.|0.705657	.|0.13890	.|N	.|0.355685	T|T	0.15003|0.15003	0.0362|0.0362	N|N	0.08118|0.08118	0|0	0.23003|0.23003	N|N	0.998448|0.998448	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.30909|0.30909	-0.9962|-0.9962	6|9	0.87932|0.14252	D|T	0|0.57	0.7805|0.7805	8.1671|8.1671	0.31233|0.31233	0.6366:0.1092:0.2543:0.0|0.6366:0.1092:0.2543:0.0	.|.	.|149;148	.|Q6ZUT1-2;Q6ZUT1	.|.;CK057_HUMAN	T|H	4|148;120;148;149;120;103	.|.	ENSP00000376768:A4T|ENSP00000339076:R148H	A|R	+|+	1|2	0|0	0|0	C11orf57|C11orf57	111458470|111458470	111458470|111458470	0.905000|0.905000	0.30787|0.30787	0.928000|0.928000	0.36995|0.36995	0.885000|0.885000	0.51271|0.51271	0.229000|0.229000	0.17833|0.17833	-0.576000|-0.576000	0.05974|0.05974	-1.814000|-1.814000	0.00607|0.00607	GCA|CGC		0.358	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1		-2.914035	-7	-7	64	64	NM_018195		3	6.660295	6.660295	45	0.0625	0	0	0	1	0	3	45	0.0625	A	111953260	G	A	111953260	3	1	80	1	0	0	0	0	1	0	0	0	1650	1087	38	1	464	1	C11orf57	11	111953260	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	9858835	111953260	23053256	305	1820											
APOA4	337	broad.mit.edu	37	11	116691776	116691776	+	Missense_Mutation	SNP	G	G	A	rs113263292		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:116691776G>A	ENST00000357780.3	-	3	1112	c.998C>T	c.(997-999)gCg>gTg	p.A333V		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	333					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CACGTCCCCCGCATGGGGGCC	0.587																																						ENST00000357780.3											0			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(997-999)gCg>gTg	apolipoprotein A-IV						70	66	67					11																	116691776		2201	4292	6493	SO:0001583	missense	337						g.chr11:116691776G>A			CCDS31681.1	CCDS31681.1	11q23.3	2013-01-24			2013-01-24			ENSG00000110244	ENSG00000110244	ENSG00000110244	ENSG00000110244		"Apolipoproteins"	"Apolipoproteins"	602	602	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			107690	107690								Standard	Standard	NM_000482	NM_000482		Approved		uc001pps.1	uc001pps.1	P06727	P06727	OTTHUMG00000046110	OTTHUMG00000046110	ENST00000357780.3:c.998C>T	11.37:g.116691776G>A	ENSP00000350425:p.Ala333Val			p.A333V	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	1112	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)			A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.998C>T	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893194	0.72524	.	.	ENSG00000110244	ENST00000357780	T	0.77620	-1.11	5.39	5.39	0.77823	5.39	5.39	0.77823	Apolipoprotein/apolipophorin (1);	0.922519	0.09103	N	0.848216	D	0.86822	0.6025	M	0.87180	2.865	0.20196	N	0.999928	D	0.55385	0.971	P	0.49192	0.602	T	0.80358	-0.1416	10	0.62326	D	0.03	-17.4676	18.7213	0.91694	0.0:0.0:1.0:0.0	.	333	P06727	APOA4_HUMAN	V	333	ENSP00000350425:A333V	ENSP00000350425:A333V	A	-	2	0	0	APOA4	116196986	116196986	0.066000	0.20996	0.812000	0.32479	0.461000	0.32589	2.435000	0.44811	2.522000	0.85027	0.557000	0.71058	GCG		0.587	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2		28.405043	-46	-46	75	75	NM_000482		11	30.560016	30.560016	31	0.261905	0	0	0	1	0	11	31	0.261905	A	116691776	G	A	116691776	3	1	80	1	0	0	0	0	1	0	0	0	783	1087	38	1	196	1	APOA4	11	116691776	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4738516	116691776	18314740	306	1821											
PCSK7	9159	broad.mit.edu	37	11	117089817	117089817	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:117089817C>T	ENST00000320934.3	-	11	2017	c.1387G>A	c.(1387-1389)Ggt>Agt	p.G463S	PCSK7_ENST00000540028.1_Missense_Mutation_p.G104S	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	463	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGCCGAAACCGTGCTGGTGG	0.597			T	IGH@	MLCLS																																	ENST00000320934.3		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1387-1389)Ggt>Agt	proprotein convertase subtilisin/kexin type 7						70	56	60					11																	117089817		2201	4296	6497	SO:0001583	missense	9159			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117089817C>T	U40623	U40623	CCDS8382.1	CCDS8382.1	11q23-q24	2008-02-01			2008-02-01			ENSG00000160613	ENSG00000160613	ENSG00000160613	ENSG00000160613				8748	8748	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604872	604872						8615762, 9820811	8615762, 9820811	Standard	Standard	XM_006718938	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	uc001pqr.3	Q16549	Q16549	OTTHUMG00000165640	OTTHUMG00000165640	ENST00000320934.3:c.1387G>A	11.37:g.117089817C>T	ENSP00000325917:p.Gly463Ser		PCSK7_ENST00000540028.1_Missense_Mutation_p.G104S	p.G463S	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	11	2017	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	463	Catalytic.	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.1387G>A	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221747	0.95139	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	D;D	0.97752	-4.52;-4.52	5.2	5.2	0.72013	5.2	5.2	0.72013	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98847	1.0757	10	0.87932	D	0	-17.8281	17.3108	0.87210	0.0:1.0:0.0:0.0	.	463	Q16549	PCSK7_HUMAN	S	463;104;463	ENSP00000325917:G463S;ENSP00000441944:G104S	ENSP00000325917:G463S	G	-	1	0	0	PCSK7	116595027	116595027	1.000000	0.71417	0.473000	0.27253	0.667000	0.39255	7.208000	0.77907	2.442000	0.82660	0.591000	0.81541	GGT		0.597	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2		8.086884	-4	-4	22	22	NM_004716		4	10.394433	10.394433	19	0.173913	0	0	0	1	0	4	19	0.173913	T	117089817	C	T	117089817	3	4	80	1	0	0	0	0	1	0	0	0	11605	652	23	1	998	1	PCSK7	11	117089817	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	398041	117089817	17916699	307	1822											
DSCAML1	57453	broad.mit.edu	37	11	117301699	117301699	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:117301699C>T	ENST00000321322.6	-	32	5606	c.5605G>A	c.(5605-5607)Gag>Aag	p.E1869K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1599K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1809					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCAGCTCCTCGTAGGTGGAA	0.562																																						ENST00000321322.6											0			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5605-5607)Gag>Aag	Down syndrome cell adhesion molecule like 1						140	129	133					11																	117301699		2201	4296	6497	SO:0001583	missense	57453			axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117301699C>T			CCDS8384.1	CCDS8384.1	11q22.2-q22.3	2013-02-11			2013-02-11			ENSG00000177103	ENSG00000177103	ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	14656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611782	611782						11453658	11453658	Standard	Standard	NM_020693	NM_020693		Approved	KIAA1132	uc001prh.1	uc001prh.1	Q8TD84	Q8TD84	OTTHUMG00000167071	OTTHUMG00000167071	ENST00000321322.6:c.5605G>A	11.37:g.117301699C>T	ENSP00000315465:p.Glu1869Lys		DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1599K	p.E1869K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	32	5606	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1809		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5605G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401603	0.96030	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.70282	-0.42;-0.47	5.04	5.04	0.67666	5.04	5.04	0.67666	.	.	.	.	.	T	0.77212	0.4097	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80317	-0.1433	9	0.87932	D	0	.	18.5658	0.91116	0.0:1.0:0.0:0.0	.	1809	Q8TD84	DSCL1_HUMAN	K	1599;1869;1576	ENSP00000434335:E1599K;ENSP00000315465:E1869K	ENSP00000315465:E1869K	E	-	1	0	0	DSCAML1	116806909	116806909	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	7.651000	0.83577	2.628000	0.89032	0.591000	0.81541	GAG		0.562	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		122.856198	-29	-29	104	104	NM_020693		38	123.347053	123.347053	26	0.59375	0	0	0	1	0	38	26	0.59375	T	117301699	C	T	117301699	3	4	80	1	0	0	0	0	1	0	0	0	4769	893	31	1	744	1	DSCAML1	11	117301699	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	211882	117301699	17704817	308	1823											
DSCAML1	57453	broad.mit.edu	37	11	117651409	117651409	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:117651409C>T	ENST00000321322.6	-	2	344	c.343G>A	c.(343-345)Gcg>Acg	p.A115T	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	55	Ig-like C2-type 1.|Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGAAGGGCCGCGCTGGGGGAG	0.657																																						ENST00000321322.6											0			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(343-345)Gcg>Acg	Down syndrome cell adhesion molecule like 1						43	49	47					11																	117651409		2201	4295	6496	SO:0001583	missense	57453			axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117651409C>T			CCDS8384.1	CCDS8384.1	11q22.2-q22.3	2013-02-11			2013-02-11			ENSG00000177103	ENSG00000177103	ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	14656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611782	611782						11453658	11453658	Standard	Standard	NM_020693	NM_020693		Approved	KIAA1132	uc001prh.1	uc001prh.1	Q8TD84	Q8TD84	OTTHUMG00000167071	OTTHUMG00000167071	ENST00000321322.6:c.343G>A	11.37:g.117651409C>T	ENSP00000315465:p.Ala115Thr		DSCAML1_ENST00000527706.1_Intron	p.A115T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	2	344	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	55	Ig-like C2-type 1.|Ig-like C2-type 2.	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.343G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604637	0.96626	.	.	ENSG00000177103	ENST00000321322	T	0.39787	1.06	5.1	5.1	0.69264	5.1	5.1	0.69264	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46483	0.1395	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	P	0.53954	0.738	T	0.48375	-0.9041	9	0.59425	D	0.04	.	18.9124	0.92491	0.0:1.0:0.0:0.0	.	55	Q8TD84	DSCL1_HUMAN	T	115	ENSP00000315465:A115T	ENSP00000315465:A115T	A	-	1	0	0	DSCAML1	117156619	117156619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.536000	0.85505	0.563000	0.77884	GCG		0.657	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		81.453087	7	7	66	66	NM_020693		26	81.470653	81.470653	24	0.52	0	0	0	1	0	26	24	0.52	T	117651409	C	T	117651409	3	4	80	1	0	0	0	0	1	0	0	0	4769	768	27	1	6126	1	DSCAML1	11	117651409	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	349710	117651409	17355107	309	1824											
CBL	867	broad.mit.edu	37	11	119144698	119144698	+	Silent	SNP	G	G	A	rs146662327		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:119144698G>A	ENST00000264033.4	+	4	1087	c.711G>A	c.(709-711)tcG>tcA	p.S237S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	237	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		ATTATATTTCGGTTTTTGAAT	0.418			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4		"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(709-711)tcG>tcA	Cbl proto-oncogene, E3 ubiquitin protein ligase	G		1,4397	2.1+/-5.4	0,1,2198	105	103	104		711	-2.8	1	11	dbSNP_134	104	0,8590		0,0,4295	no	coding-synonymous	CBL	NM_005188.2		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		237/907	119144698	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119144698G>A	X57110	X57110	CCDS8418.1	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395	ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	1541	1541	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"oncogene CBL2"	"oncogene CBL2"	165360	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	2013228	Standard	Standard	NM_005188	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	uc001pwe.4	P22681	P22681	OTTHUMG00000166170	OTTHUMG00000166170	ENST00000264033.4:c.711G>A	11.37:g.119144698G>A				p.S237S	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	4	1087	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	237	Cbl-PTB.|EF-hand-like.	A3KMP8	Silent	SNP	ENST00000264033.4	37	c.711G>A	CCDS8418.1																																																																																									0.418	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4		26.330825	-2	-2	84	84	NM_005188		10	28.603337	28.603337	30	0.25	0	0	0	1	0	10	30	0.25	A	119144698	G	A	119144698	2	1	80	1	0	0	0	0	0	0	0	1	2700	1103	39	1		1	CBL	11	119144698	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1493289	119144698	15861818	310	1825											
PVRL1	5818	broad.mit.edu	37	11	119535574	119535574	+	Silent	SNP	G	G	A	rs141036439		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:119535574G>A	ENST00000264025.3	-	6	1967	c.1437C>T	c.(1435-1437)gaC>gaT	p.D479D	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	479					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCCGTAGCCGTCCTGACGGG	0.627																																						ENST00000264025.3											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1435-1437)gaC>gaT	poliovirus receptor-related 1 (herpesvirus entry mediator C)						53	48	49					11																	119535574		2199	4295	6494	SO:0001819	synonymous_variant	5818			adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535574G>A	X76400	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400	ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	9706	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nectin"	"nectin"	600644	600644		HVEC, ED4		HVEC, ED4		7721102, 9616127	7721102, 9616127	Standard	Standard	NM_203285	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	uc001pwv.3	Q15223	Q15223	OTTHUMG00000166177	OTTHUMG00000166177	ENST00000264025.3:c.1437C>T	11.37:g.119535574G>A			PVRL1_ENST00000341398.2_Intron	p.D479D	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1967	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	479		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	ENST00000264025.3	37	c.1437C>T	CCDS8426.1																																																																																									0.627	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		5.784922	-3	-3	36	36			4	8.992273	8.992273	23	0.148148	0	0	0	1	0	4	23	0.148148	A	119535574	G	A	119535574	2	1	80	1	0	0	0	0	0	0	0	1	12839	1136	40	1		1	PVRL1	11	119535574	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	390876	119535574	15470942	311	1826											
GRIK4	2900	broad.mit.edu	37	11	120827588	120827588	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:120827588G>A	ENST00000527524.2	+	16	2087	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	GRIK4_ENST00000438375.2_Silent_p.P600P	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	600					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|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)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TCTGGTTTCCGGTCGGGGGGT	0.642																																						ENST00000527524.2											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1798-1800)ccG>ccA	glutamate receptor, ionotropic, kainate 4						66	55	59					11																	120827588		2203	4299	6502	SO:0001819	synonymous_variant	2900			glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120827588G>A	S67803	S67803	CCDS8433.1	CCDS8433.1	11q23.3	2012-08-29			2012-08-29			ENSG00000149403	ENSG00000149403	ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	4582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600282	600282		GRIK		GRIK				Standard	Standard	NM_001282470	NM_001282470		Approved	GluK4, KA1	uc009zax.1	uc009zax.1	Q16099	Q16099	OTTHUMG00000048255	OTTHUMG00000048255	ENST00000527524.2:c.1800G>A	11.37:g.120827588G>A			GRIK4_ENST00000438375.2_Silent_p.P600P	p.P600P	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	16	2087	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	600		A8K9L1	Silent	SNP	ENST00000527524.2	37	c.1800G>A	CCDS8433.1																																																																																									0.642	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4		2.165198	-4	-4	51	51	NM_014619		4	9.848179	9.848179	41	0.088889	0	0	0	1	0	4	41	0.088889	A	120827588	G	A	120827588	2	1	80	1	0	0	0	0	0	0	0	1	6776	1103	39	1		1	GRIK4	11	120827588	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1292014	120827588	14178928	312	1827											
TECTA	7007	broad.mit.edu	37	11	121000772	121000772	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:121000772C>T	ENST00000392793.1	+	10	3064	c.2793C>T	c.(2791-2793)aaC>aaT	p.N931N	TECTA_ENST00000264037.2_Silent_p.N931N			O75443	TECTA_HUMAN	tectorin alpha	931					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGTGGTGAACGTCACTGCCT	0.587																																						ENST00000392793.1											0			NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2791-2793)aaC>aaT	tectorin alpha						72	69	70					11																	121000772		2203	4299	6502	SO:0001819	synonymous_variant	7007			cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000772C>T	AF055136	AF055136	CCDS8434.1	CCDS8434.1	11q22-q24	2008-02-05			2008-02-05			ENSG00000109927	ENSG00000109927	ENSG00000109927	ENSG00000109927				11720	11720	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602574	602574		DFNA12, DFNA8, DFNB21		DFNA12, DFNA8, DFNB21		9503015, 9590290	9503015, 9590290	Standard	Standard	NM_005422	NM_005422		Approved		uc010rzo.2	uc010rzo.2	O75443	O75443	OTTHUMG00000149908	OTTHUMG00000149908	ENST00000392793.1:c.2793C>T	11.37:g.121000772C>T			TECTA_ENST00000264037.2_Silent_p.N931N	p.N931N			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	3064	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	931			Silent	SNP	ENST00000392793.1	37	c.2793C>T	CCDS8434.1																																																																																									0.587	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		28.019489	7	7	89	89	NM_005422		11	30.165176	30.165176	31	0.261905	0	0	0	1	0	11	31	0.261905	T	121000772	C	T	121000772	2	4	80	1	0	0	0	0	0	0	0	1	15744	535	19	1		1	TECTA	11	121000772	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	173184	121000772	14005744	313	1828											
PUS3	83480	broad.mit.edu	37	11	125763823	125763823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:125763823G>A	ENST00000530811.1	-	3	1348	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Nonsense_Mutation_p.R435*|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	435					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TGCTCAATTCGTCCCCTACGT	0.453																																						ENST00000227474.3											0			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(1303-1305)Cga>Tga	pseudouridylate synthase 3						224	217	219					11																	125763823		2201	4299	6500	SO:0001587	stop_gained	83480				nucleus	RNA binding	g.chr11:125763823G>A	BC004822	BC004822	CCDS8466.1, CCDS73411.1	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05			2008-02-05										25461	25461	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_031307	NM_031307		Approved	FKSG32	uc001qcy.2	uc001qcy.2	Q9BZE2	Q9BZE2			ENST00000530811.1:c.1303C>T	11.37:g.125763823G>A	ENSP00000432386:p.Arg435*		HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Nonsense_Mutation_p.R435*	p.R435*	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	4	1400	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	435		B2RAM0|Q96D17|Q96J23|Q96NB4	Nonsense_Mutation	SNP	ENST00000530811.1	37	c.1303C>T	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	G	35	5.434132	0.96150	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	.	.	.	5.1	1.67	0.24075	5.1	1.67	0.24075	.	0.113923	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0923	10.221	0.43196	0.0:0.1095:0.5456:0.3448	.	.	.	.	X	435	.	ENSP00000227474:R435X	R	-	1	2	2	PUS3	125269033	125269033	1.000000	0.71417	0.577000	0.28562	0.981000	0.71138	1.656000	0.37355	0.500000	0.27991	0.591000	0.81541	CGA		0.453	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1		-8.805168	-11	-11	159	159	NM_031307		8	17.54499	17.54499	123	0.061069	0	0	0	1	0	8	123	0.061069	A	125763823	G	A	125763823	4	1	80	1	0	0	0	0	0	1	0	0	12832	1153	40	1	146	1	PUS3	11	125763823	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4763051	125763823	9242693	314	1829											
TMEM45B	120224	broad.mit.edu	37	11	129722455	129722455	+	Silent	SNP	G	G	A	rs145339290	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:129722455G>A	ENST00000524567.1	+	2	359	c.78G>A	c.(76-78)ccG>ccA	p.P26P	TMEM45B_ENST00000281441.3_Silent_p.P26P			Q96B21	TM45B_HUMAN	transmembrane protein 45B	26						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		TGAAGTACCCGCTGAAGTACT	0.498																																						ENST00000281441.3											0			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(76-78)ccG>ccA	transmembrane protein 45B	G		0,4402		0,0,2201	143	128	133		78	-8.9	0	11	dbSNP_134	133	6,8588	5.0+/-18.6	0,6,4291	no	coding-synonymous	TMEM45B	NM_138788.3		0,6,6492	AA,AG,GG		0.0698,0.0,0.0462		26/276	129722455	6,12990	2201	4297	6498	SO:0001819	synonymous_variant	120224				integral to membrane		g.chr11:129722455G>A	AK098106	AK098106	CCDS8482.1	CCDS8482.1	11q24.3	2008-02-05			2008-02-05				ENSG00000151715		ENSG00000151715				25194	25194	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_138788	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	uc001qfe.1	Q96B21	Q96B21			ENST00000524567.1:c.78G>A	11.37:g.129722455G>A			TMEM45B_ENST00000524567.1_Silent_p.P26P	p.P26P	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	2	166	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	26		A8K2L8	Silent	SNP	ENST00000524567.1	37	c.78G>A	CCDS8482.1																																																																																									0.498	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1		121.544170	-4	-4	114	114	NM_138788		41	122.736521	122.736521	65	0.386792	0	0	0	1	0	41	65	0.386792	A	129722455	G	A	129722455	2	1	80	1	0	0	0	0	0	0	0	1	16167	1074	38	1		1	TMEM45B	11	129722455	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3958632	129722455	5284061	315	1830											
IGSF9B	22997	broad.mit.edu	37	11	133806051	133806051	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:133806051C>T	ENST00000321016.8	-	6	948	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V240I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	240	Ig-like 3.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GAGATGTTGACGGTGATGTTC	0.617																																						ENST00000321016.8											0			breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(718-720)Gtc>Atc	immunoglobulin superfamily, member 9B						58	63	62					11																	133806051		2110	4220	6330	SO:0001583	missense	22997				integral to membrane|plasma membrane		g.chr11:133806051C>T	AK097578	AK097578	CCDS61010.1	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20	2013-02-11	2005-10-12	2005-11-20						"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	32326	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613773	613773								Standard	Standard	NM_001277285	NM_001277285		Approved	KIAA1030	uc031qfh.1	uc031qfh.1	Q9UPX0	Q9UPX0			ENST00000321016.8:c.718G>A	11.37:g.133806051C>T	ENSP00000317980:p.Val240Ile		IGSF9B_ENST00000533871.2_Missense_Mutation_p.V240I	p.V240I			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	6	948	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	240	Ig-like 3.	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.718G>A		.	.	.	.	.	.	.	.	.	.	C	21.7	4.189872	0.78789	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.70282	-0.47;-0.47;-0.47	5.03	5.03	0.67393	5.03	5.03	0.67393	Immunoglobulin I-set (1);Fibronectin, type III (2);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66177	0.2763	L	0.43923	1.385	0.51482	D	0.999925	B	0.22276	0.067	B	0.26202	0.067	T	0.61501	-0.7050	9	0.29301	T	0.29	.	18.3684	0.90399	0.0:1.0:0.0:0.0	.	240	Q9UPX0	TUTLB_HUMAN	I	240;82;240	ENSP00000317980:V240I;ENSP00000436552:V82I;ENSP00000436576:V240I	ENSP00000317980:V240I	V	-	1	0	0	IGSF9B	133311261	133311261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.346000	0.79739	0.561000	0.74099	GTC		0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			11.062822	-15	-15	11	11	XM_290502		5	12.38066	12.38066	16	0.238095	0	0	0	1	0	5	16	0.238095	T	133806051	C	T	133806051	3	4	80	1	0	0	0	0	1	0	0	0	7606	536	19	1	3387	1	IGSF9B	11	133806051	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4083596	133806051	1200465	316	1831											
IGSF9B	22997	broad.mit.edu	37	11	133807352	133807352	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:133807352G>A	ENST00000321016.8	-	5	828	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R200W			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	200	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGTCCTCCCGACTGACCGAT	0.607																																						ENST00000321016.8											0			breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(598-600)Cgg>Tgg	immunoglobulin superfamily, member 9B						68	77	74					11																	133807352		2159	4240	6399	SO:0001583	missense	22997				integral to membrane|plasma membrane		g.chr11:133807352G>A	AK097578	AK097578	CCDS61010.1	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20	2013-02-11	2005-10-12	2005-11-20						"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	32326	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613773	613773								Standard	Standard	NM_001277285	NM_001277285		Approved	KIAA1030	uc031qfh.1	uc031qfh.1	Q9UPX0	Q9UPX0			ENST00000321016.8:c.598C>T	11.37:g.133807352G>A	ENSP00000317980:p.Arg200Trp		IGSF9B_ENST00000533871.2_Missense_Mutation_p.R200W	p.R200W			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	5	828	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	200	Ig-like 2.	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.598C>T		.	.	.	.	.	.	.	.	.	.	G	24.6	4.543952	0.86022	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648;ENST00000533160	T;T;T;D	0.96300	-0.73;-1.17;-0.73;-3.97	5.54	4.61	0.57282	5.54	4.61	0.57282	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97692	0.9243	M	0.72624	2.21	0.47374	D	0.9994	D	0.89917	1.0	D	0.81914	0.995	D	0.98333	1.0534	9	0.87932	D	0	.	15.4874	0.75578	0.0:0.0:0.8532:0.1468	.	200	Q9UPX0	TUTLB_HUMAN	W	200;42;200;190	ENSP00000317980:R200W;ENSP00000436552:R42W;ENSP00000436576:R200W;ENSP00000434026:R190W	ENSP00000317980:R200W	R	-	1	2	2	IGSF9B	133312562	133312562	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.899000	0.69846	1.290000	0.44636	0.561000	0.74099	CGG		0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			62.662515	7	7	74	74	XM_290502		21	62.752623	62.752623	17	0.552632	0	0	0	1	0	21	17	0.552632	A	133807352	G	A	133807352	3	1	80	1	0	0	0	0	1	0	0	0	7606	1057	37	1	3511	1	IGSF9B	11	133807352	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1301	133807352	1199164	317	1832											
SLC6A12	6539	broad.mit.edu	37	12	319146	319146	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:319146C>T	ENST00000428720.1	-	3	750	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	SLC6A12_ENST00000397296.2_Missense_Mutation_p.G3R|SLC6A12_ENST00000359674.4_Missense_Mutation_p.G3R|SLC6A12_ENST00000536824.1_Missense_Mutation_p.G3R|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G3R	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	3					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCCACCTTCCCGTCCATGGCT	0.607																																						ENST00000428720.1											0			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(7-9)Ggg>Agg	solute carrier family 6 (neurotransmitter transporter), member 12						63	54	57					12																	319146		2203	4300	6503	SO:0001583	missense	6539			cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:319146C>T	L42300	L42300	CCDS8501.1	CCDS8501.1	12p13	2013-07-19	2013-07-19		2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181	ENSG00000111181	ENSG00000111181		"Solute carriers"	"Solute carriers"	11045	11045	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	"betaine/GABA transporter-1"	603080	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"		"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	7589472	Standard	Standard	NM_003044	NM_003044		Approved	BGT-1	uc009zdh.2	uc009zdh.2	P48065	P48065	OTTHUMG00000090309	OTTHUMG00000090309	ENST00000428720.1:c.7G>A	12.37:g.319146C>T	ENSP00000388184:p.Gly3Arg		SLC6A12_ENST00000359674.4_Missense_Mutation_p.G3R|SLC6A12_ENST00000536824.1_Missense_Mutation_p.G3R|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G3R|SLC6A12_ENST00000397296.2_Missense_Mutation_p.G3R	p.G3R	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		3	750	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		3		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.7G>A	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781842	0.16120	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793;ENST00000535347	T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.33;1.0	5.63	0.973	0.19710	5.63	0.973	0.19710	.	1.223420	0.06279	N	0.697043	T	0.47637	0.1456	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28299	-1.0048	10	0.29301	T	0.29	.	4.8536	0.13549	0.1418:0.2934:0.0:0.5648	.	3	P48065	S6A12_HUMAN	R	3	ENSP00000352702:G3R;ENSP00000380464:G3R;ENSP00000388184:G3R;ENSP00000399136:G3R;ENSP00000444268:G3R;ENSP00000439351:G3R;ENSP00000446082:G3R	ENSP00000352702:G3R	G	-	1	0	0	SLC6A12	189407	189407	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	-0.018000	0.12568	0.081000	0.16988	0.563000	0.77884	GGG		0.607	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2		20.219424	-2	-2	24	24	NM_003044		7	20.616251	20.616251	13	0.35	0	0	0	1	0	7	13	0.35	T	319146	C	T	319146	3	4	80	1	0	0	0	0	1	0	0	0	14675	652	23	1	1893	1	SLC6A12	12	319146	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		319146	133532749	318	1833											
ERC1	23085	broad.mit.edu	37	12	1137128	1137128	+	Missense_Mutation	SNP	G	G	A	rs549963000		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:1137128G>A	ENST00000397203.2	+	2	465	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ERC1_ENST00000355446.5_Missense_Mutation_p.R20H|ERC1_ENST00000546231.2_Missense_Mutation_p.R20H|ERC1_ENST00000360905.4_Missense_Mutation_p.R20H|ERC1_ENST00000543086.3_Missense_Mutation_p.R20H|ERC1_ENST00000589028.1_Missense_Mutation_p.R20H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	20					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGCCCTGGGCGTTCACCCAGG	0.582													G|||	1	0.000199681	0	0	5008	,	,		18809	0		0	False		,,,				2504	0.001					ENST00000397203.2											0			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(58-60)cGt>cAt	ELKS/RAB6-interacting/CAST family member 1						101	100	101					12																	1137128		2203	4300	6503	SO:0001583	missense	23085			I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1137128G>A	AB015617	AB015617	CCDS8508.1, CCDS53732.1	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805	ENSG00000082805	ENSG00000082805				17072	17072	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607127	607127	"RAB6 interacting protein 2"	RAB6IP2	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	10697956, 11929610	Standard	Standard	NM_178040	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	uc001qjb.2	Q8IUD2	Q8IUD2	OTTHUMG00000130138	OTTHUMG00000130138	ENST00000397203.2:c.59G>A	12.37:g.1137128G>A	ENSP00000380386:p.Arg20His		ERC1_ENST00000360905.4_Missense_Mutation_p.R20H|ERC1_ENST00000589028.1_Missense_Mutation_p.R20H|ERC1_ENST00000355446.5_Missense_Mutation_p.R20H|ERC1_ENST00000543086.3_Missense_Mutation_p.R20H|ERC1_ENST00000546231.2_Missense_Mutation_p.R20H	p.R20H			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		2	465	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		20		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.59G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375417	0.82682	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	D;D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91935	0.7446	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.984	D	0.92721	0.6191	10	0.87932	D	0	-9.6219	19.6214	0.95658	0.0:0.0:1.0:0.0	.	20;20;20	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	H	20	ENSP00000340054:R20H;ENSP00000380386:R20H;ENSP00000438546:R20H;ENSP00000445336:R20H;ENSP00000442976:R20H;ENSP00000442739:R20H;ENSP00000347621:R20H;ENSP00000354158:R20H;ENSP00000410064:R20H	ENSP00000299183:R20H	R	+	2	0	0	ERC1	1007389	1007389	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	9.782000	0.99034	2.644000	0.89710	0.655000	0.94253	CGT		0.582	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2		134.485266	-7	-7	94	94	NM_015064		44	134.961218	134.961218	59	0.427184	0	0	0	1	0	44	59	0.427184	A	1137128	G	A	1137128	3	1	80	1	0	0	0	0	1	0	0	0	5210	1145	40	1	61	1	ERC1	12	1137128	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	817982	1137128	132714767	319	1834											
DCP1B	196513	broad.mit.edu	37	12	2062235	2062235	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:2062235A>G	ENST00000280665.6	-	7	950	c.871T>C	c.(871-873)Tgt>Cgt	p.C291R	DCP1B_ENST00000540622.1_Missense_Mutation_p.C165R|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.C189R	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	291					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)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ATGGCTGGACAGAGCTGCTTC	0.547																																						ENST00000280665.6											0			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(871-873)Tgt>Cgt	decapping mRNA 1B						70	74	73					12																	2062235		2203	4300	6503	SO:0001583	missense	196513			exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062235A>G	AY146652	AY146652	CCDS31727.1	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065	ENSG00000151065	ENSG00000151065				24451	24451	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609843	609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"		"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	12417715, 15067023	Standard	Standard	NM_152640	NM_152640		Approved	FLJ31638	uc001qjx.1	uc001qjx.1	Q8IZD4	Q8IZD4	OTTHUMG00000168113	OTTHUMG00000168113	ENST00000280665.6:c.871T>C	12.37:g.2062235A>G	ENSP00000280665:p.Cys291Arg		DCP1B_ENST00000540622.1_Missense_Mutation_p.C165R|DCP1B_ENST00000397173.4_Missense_Mutation_p.C189R|DCP1B_ENST00000541700.1_5'UTR	p.C291R	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	950	-			291		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.871T>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859306	0.71834	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.59638	0.69;0.52;0.25	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.76176	-0.3055	10	0.62326	D	0.03	-14.1539	14.2709	0.66152	1.0:0.0:0.0:0.0	.	189;291	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	R	291;189;165	ENSP00000280665:C291R;ENSP00000380358:C189R;ENSP00000444374:C165R	ENSP00000280665:C291R	C	-	1	0	0	DCP1B	1932496	1932496	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	6.917000	0.75782	2.153000	0.67306	0.528000	0.53228	TGT		0.547	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1		53.140872	5	5	67	67	NM_152640		18	54.110723	54.110723	33	0.352941	0	0	0	1	0	18	33	0.352941	G	2062235	A	G	2062235	3	3	80	1	0	0	0	0	1	0	0	0	4299	188	7	4	994	4	DCP1B	12	2062235	Missense_Mutation	SNP	A	TCGA-YZ-A985-01A-11D-A39W-08	925107	2062235	131789660	320	1835											
CACNA1C	775	broad.mit.edu	37	12	2719791	2719791	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:2719791G>A	ENST00000347598.4	+	29	3703	c.3703G>A	c.(3703-3705)Gtg>Atg	p.V1235M	CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1235M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1240M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1215M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1215M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1235					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)	AGTGTGGTACGTGGTCAACTC	0.592																																						ENST00000399655.1											0			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						c.(3643-3645)Gtg>Atg	calcium channel, voltage-dependent, L type, alpha 1C subunit						119	126	124					12																	2719791		2198	4299	6497	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.chr12:2719791G>A	AF070589	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	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			2014-09-17			ENSG00000151067	ENSG00000151067	ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	1390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114205	114205		CCHL1A1, CACNL1A1		CCHL1A1, CACNL1A1		1650913, 16382099	1650913, 16382099	Standard	Standard	NM_001129832	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	uc001qjy.3	Q13936	Q13936	OTTHUMG00000150243	OTTHUMG00000150243	ENST00000347598.4:c.3703G>A	12.37:g.2719791G>A	ENSP00000266376:p.Val1235Met		CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.V1235M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1240M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1235M	p.V1215M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	28	3908	+			1235		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.3643G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902190	0.92035	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96619	-3.99;-3.99;-4.01;-4.01;-4.0;-4.02;-4.01;-3.91;-3.95;-4.0;-3.94;-3.93;-3.99;-4.04;-3.91;-3.84;-4.05;-4.04;-4.0;-4.02;-3.96;-4.02;-4.07	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.97958	0.9328	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.984;0.993;1.0;1.0;0.984;1.0;0.996;0.971;1.0;1.0;0.972;1.0;1.0;1.0;1.0;0.99;1.0;0.994;1.0;1.0;1.0;1.0;0.999;0.984	D;P;P;D;D;P;D;P;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;P	0.91635	0.997;0.737;0.759;0.997;0.998;0.737;0.999;0.576;0.576;0.999;0.998;0.782;0.999;0.994;0.997;0.994;0.73;0.999;0.814;0.998;0.999;0.999;0.998;0.991;0.737	D	0.98567	1.0644	10	0.62326	D	0.03	.	18.7859	0.91954	0.0:0.0:1.0:0.0	.	1215;1212;1235;1215;1215;1215;1215;1215;1215;1235;1215;1186;1235;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215	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;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1240;1215;1215;1215;1215;1215;1215;1215;1215;1215;1235;1235;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1056	ENSP00000336982:V1240M;ENSP00000382563:V1215M;ENSP00000437936:V1215M;ENSP00000382552:V1215M;ENSP00000382547:V1215M;ENSP00000382506:V1215M;ENSP00000382530:V1215M;ENSP00000382546:V1215M;ENSP00000382500:V1215M;ENSP00000382549:V1215M;ENSP00000266376:V1235M;ENSP00000382515:V1235M;ENSP00000382510:V1215M;ENSP00000341092:V1215M;ENSP00000382537:V1215M;ENSP00000329877:V1215M;ENSP00000382557:V1215M;ENSP00000385724:V1215M;ENSP00000382512:V1215M;ENSP00000382542:V1215M;ENSP00000382526:V1215M;ENSP00000385896:V1215M;ENSP00000382504:V1215M	ENSP00000323129:V1056M	V	+	1	0	0	CACNA1C	2590052	2590052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.932000	0.87634	2.508000	0.84585	0.655000	0.94253	GTG		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		11.125676	-19	-19	50	50	NM_000719		6	15.366337	15.366337	32	0.157895	0	0	0	1	0	6	32	0.157895	A	2719791	G	A	2719791	3	1	80	1	0	0	0	0	1	0	0	0	2540	1145	40	1	3925	1	CACNA1C	12	2719791	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	657556	2719791	131132104	321	1836											
FOXM1	2305	broad.mit.edu	37	12	2973852	2973852	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:2973852C>T	ENST00000359843.3	-	7	1155	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	FOXM1_ENST00000361953.3_Missense_Mutation_p.A348T|FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.A363T	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	363					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TACTAACGTGCGCCCAGGGGG	0.552																																						ENST00000342628.2											0			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(1087-1089)Gca>Aca	forkhead box M1						142	125	131					12																	2973852		2203	4300	6503	SO:0001583	missense	2305			cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2973852C>T	Y12773	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			2007-09-18			ENSG00000111206	ENSG00000111206	ENSG00000111206	ENSG00000111206		"Forkhead boxes"	"Forkhead boxes"	3818	3818	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	"M-phase phosphoprotein 2"	602341	602341		FKHL16		FKHL16		9032290, 9441747	9032290, 9441747	Standard	Standard	NM_202002	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	uc001qlf.3	Q08050	Q08050	OTTHUMG00000168118	OTTHUMG00000168118	ENST00000359843.3:c.1087G>A	12.37:g.2973852C>T	ENSP00000352901:p.Ala363Thr		FOXM1_ENST00000359843.3_Missense_Mutation_p.A363T|FOXM1_ENST00000361953.3_Missense_Mutation_p.A348T	p.A363T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		7	1200	-			363		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.1087G>A	CCDS8515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.63|13.63	2.294084|2.294084	0.40594|0.40594	.|.	.|.	ENSG00000111206|ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843|ENST00000535350	D;D;D|.	0.93426|.	-3.14;-3.22;-3.15|.	4.73|4.73	2.9|2.9	0.33743|0.33743	4.73|4.73	2.9|2.9	0.33743|0.33743	.|.	0.421116|.	0.27393|.	N|.	0.019561|.	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.12182|0.12182	0.205|0.205	0.30685|0.30685	N|N	0.751927|0.751927	B;B;B;B;B|.	0.31077|.	0.056;0.099;0.093;0.099;0.307|.	B;B;B;B;B|.	0.27380|.	0.015;0.019;0.034;0.019;0.079|.	T|T	0.25257|0.25257	-1.0137|-1.0137	10|5	0.42905|.	T|.	0.14|.	.|.	8.0561|8.0561	0.30606|0.30606	0.0:0.8117:0.0:0.1883|0.0:0.8117:0.0:0.1883	.|.	347;363;348;363;363|.	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3|.	.;.;.;FOXM1_HUMAN;.|.	T|H	363;348;363|88	ENSP00000342307:A363T;ENSP00000354492:A348T;ENSP00000352901:A363T|.	ENSP00000342307:A363T|.	A|R	-|-	1|2	0|0	0|0	FOXM1|FOXM1	2844113|2844113	2844113|2844113	0.815000|0.815000	0.29118|0.29118	1.000000|1.000000	0.80357|0.80357	0.605000|0.605000	0.37080|0.37080	0.332000|0.332000	0.19751|0.19751	0.598000|0.598000	0.29829|0.29829	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.552	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1		-7.862464	-3	-3	92	92	NM_021953		4	7.657626	7.657626	70	0.054054	0	0	0	1	0	4	70	0.054054	T	2973852	C	T	2973852	3	4	80	1	0	0	0	0	1	0	0	0	6018	768	27	1	1334	1	FOXM1	12	2973852	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	254061	2973852	130878043	322	1837											
KCNA5	3741	broad.mit.edu	37	12	5154303	5154303	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:5154303G>A	ENST00000252321.3	+	1	1219	c.990G>A	c.(988-990)acG>acA	p.T330T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	330					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.T330T(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TGGAGACCACGTGCGTCATCT	0.652																																						ENST00000252321.3											1	Substitution - coding silent(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(988-990)acG>acA	potassium voltage-gated channel, shaker-related subfamily, member 5						86	78	81					12																	5154303		2203	4300	6503	SO:0001819	synonymous_variant	3741				Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154303G>A	M83254	M83254	CCDS8536.1	CCDS8536.1	12p13	2012-07-05			2012-07-05				ENSG00000130037		ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	6224	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176267	176267						16382104	16382104	Standard	Standard	NM_002234	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	uc001qni.4	P22460	P22460			ENST00000252321.3:c.990G>A	12.37:g.5154303G>A				p.T330T	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1219	+			330		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.990G>A	CCDS8536.1																																																																																									0.652	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2		7.281245	-3	-3	95	95	NM_002234		7	16.699361	16.699361	56	0.111111	0	0	0	1	0	7	56	0.111111	A	5154303	G	A	5154303	2	1	80	1	0	0	0	0	0	0	0	1	8006	1132	40	1		1	KCNA5	12	5154303	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2180451	5154303	128697592	323	1838											
VWF	7450	broad.mit.edu	37	12	6128639	6128639	+	Silent	SNP	G	G	A	rs143009893		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:6128639G>A	ENST00000261405.5	-	28	4199	c.3945C>T	c.(3943-3945)cgC>cgT	p.R1315R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1315	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACGGCCACGCGGACCCACT	0.632													g|||	1	0.000199681	0	0	5008	,	,		17187	0.001		0	False		,,,				2504	0					ENST00000261405.5											0			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(3943-3945)cgC>cgT	von Willebrand factor	A		0,4406		0,0,2203	58	58	58		3945	-10	0.3	12	dbSNP_134	58	1,8599		0,1,4299	no	coding-synonymous	VWF	NM_000552.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1315/2814	6128639	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7450			blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128639G>A			CCDS8539.1	CCDS8539.1	12p13.3	2014-09-17			2014-09-17			ENSG00000110799	ENSG00000110799	ENSG00000110799	ENSG00000110799		"Endogenous ligands"	"Endogenous ligands"	12726	12726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613160	613160		F8VWF		F8VWF		2251280	2251280	Standard	Standard	NM_000552	NM_000552		Approved		uc001qnn.1	uc001qnn.1	P04275	P04275	OTTHUMG00000168265	OTTHUMG00000168265	ENST00000261405.5:c.3945C>T	12.37:g.6128639G>A				p.R1315R	NM_000552.3	NP_000543	P04275	VWF_HUMAN			28	4199	-			1315	VWFA 1; binding site for platelet glycoprotein Ib.	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.3945C>T	CCDS8539.1																																																																																									0.632	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		85.325797	-14	-14	70	70	NM_000552		27	85.48872	85.48872	21	0.5625	0	0	0	1	0	27	21	0.5625	A	6128639	G	A	6128639	2	1	80	1	0	0	0	0	0	0	0	1	17243	1074	38	1		1	VWF	12	6128639	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	974336	6128639	127723256	324	1839											
ATF7IP	55729	broad.mit.edu	37	12	14650705	14650705	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:14650705G>A	ENST00000540793.1	+	14	3666	c.3511G>A	c.(3511-3513)Gtt>Att	p.V1171I	ATF7IP_ENST00000536444.1_Missense_Mutation_p.V1170I|ATF7IP_ENST00000544627.1_Missense_Mutation_p.V1179I|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V1171I			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1171	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTTAGCACGCGTTCAGAGTCA	0.532																																						ENST00000544627.1											0			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3535-3537)Gtt>Att	activating transcription factor 7 interacting protein						183	150	161					12																	14650705		2203	4300	6503	SO:0001583	missense	55729			DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14650705G>A	AJ242978	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18			2005-11-18				ENSG00000171681		ENSG00000171681				20092	20092	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613644	613644						10976766, 10777215	10976766, 10777215	Standard	Standard	XM_005253424	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	uc001rbw.3	Q6VMQ6	Q6VMQ6			ENST00000540793.1:c.3511G>A	12.37:g.14650705G>A	ENSP00000444589:p.Val1171Ile		ATF7IP_ENST00000261168.4_Missense_Mutation_p.V1171I|ATF7IP_ENST00000540793.1_Missense_Mutation_p.V1171I|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V1170I	p.V1179I			Q6VMQ6	MCAF1_HUMAN			15	3855	+			1171	Fibronectin type-III.|Interaction with MBD1.	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3535G>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600276	0.87055	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.08	6.08	0.98989	6.08	6.08	0.98989	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000027	T	0.50820	0.1638	L	0.41573	1.285	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.44267	-0.9339	10	0.87932	D	0	-19.1858	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1170;1171	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	I	1171;1170;1179;1171	ENSP00000261168:V1171I;ENSP00000445955:V1170I;ENSP00000440440:V1179I;ENSP00000444589:V1171I	ENSP00000261168:V1171I	V	+	1	0	0	ATF7IP	14541972	14541972	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.857000	0.86963	2.894000	0.99253	0.655000	0.94253	GTT		0.532	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		62.297505	-13	-13	39	39	NM_018179		20	62.342892	62.342892	23	0.465116	0	0	0	1	0	20	23	0.465116	A	14650705	G	A	14650705	3	1	80	1	0	0	0	0	1	0	0	0	1087	1145	40	1	3565	1	ATF7IP	12	14650705	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8522066	14650705	119201190	325	1840											
TMTC1	83857	broad.mit.edu	37	12	29671410	29671410	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:29671410G>A	ENST00000539277.1	-	13	2077	c.2019C>T	c.(2017-2019)taC>taT	p.Y673Y	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Silent_p.Y735Y|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000552618.1_Silent_p.Y697Y|TMTC1_ENST00000256062.5_Silent_p.Y565Y	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	673						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTACCGCTTGTACCATTCTT	0.463																																						ENST00000256062.5											0			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1693-1695)taC>taT	transmembrane and tetratricopeptide repeat containing 1						184	166	172					12																	29671410		2203	4300	6503	SO:0001819	synonymous_variant	83857				integral to membrane	binding	g.chr12:29671410G>A			CCDS8718.1, CCDS53772.1	CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06		2014-06-09	2006-01-06			ENSG00000133687		ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	24099	24099	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615855	615855						24764305	24764305	Standard	Standard	NM_001193451	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	uc021qwi.1	Q8IUR5	Q8IUR5	OTTHUMG00000169324	OTTHUMG00000169324	ENST00000539277.1:c.2019C>T	12.37:g.29671410G>A			TMTC1_ENST00000552618.1_Silent_p.Y697Y|TMTC1_ENST00000539277.1_Silent_p.Y673Y|TMTC1_ENST00000551659.1_Silent_p.Y735Y|TMTC1_ENST00000319685.8_5'UTR	p.Y565Y	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			13	2168	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		673		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.1695C>T	CCDS53772.1																																																																																									0.463	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1		157.318746	-34	-34	121	121	NM_031920		51	157.320905	157.320905	52	0.495146	0	0	0	1	0	51	52	0.495146	A	29671410	G	A	29671410	2	1	80	1	0	0	0	0	0	0	0	1	16257	1372	48	3		3	TMTC1	12	29671410	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15020705	29671410	104180485	326	1841											
BICD1	636	broad.mit.edu	37	12	32480498	32480498	+	Missense_Mutation	SNP	G	G	A	rs199625504		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:32480498G>A	ENST00000281474.5	+	5	1212	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	BICD1_ENST00000548411.1_Missense_Mutation_p.R370Q	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	370					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CGGGTGCACCGGCTCACAGAG	0.622																																						ENST00000548411.1											0			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1108-1110)cGg>cAg	bicaudal D homolog 1 (Drosophila)						55	51	53					12																	32480498		2203	4300	6503	SO:0001583	missense	636			anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480498G>A	U90028	U90028	CCDS8726.1, CCDS44859.1	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28		2005-01-13	2001-11-28			ENSG00000151746		ENSG00000151746				1049	1049	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602204	602204	"Bicaudal D (Drosophila) homolog 1"		"Bicaudal D (Drosophila) homolog 1"			9367685	9367685	Standard	Standard	NM_001714	NM_001714		Approved		uc001rku.3	uc001rku.3	Q96G01	Q96G01	OTTHUMG00000169307	OTTHUMG00000169307	ENST00000281474.5:c.1109G>A	12.37:g.32480498G>A	ENSP00000281474:p.Arg370Gln		BICD1_ENST00000281474.5_Missense_Mutation_p.R370Q	p.R370Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1290	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		370		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1109G>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622932	0.46840	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.44881	0.91;0.91	5.21	4.3	0.51218	5.21	4.3	0.51218	.	0.061324	0.64402	D	0.000009	T	0.38825	0.1055	L	0.61036	1.89	0.80722	D	1	P;B	0.52577	0.954;0.035	B;B	0.39738	0.308;0.008	T	0.31971	-0.9924	10	0.27082	T	0.32	.	14.6784	0.68998	0.074:0.0:0.926:0.0	.	370;370	F8W113;Q96G01	.;BICD1_HUMAN	Q	370	ENSP00000446793:R370Q;ENSP00000281474:R370Q	ENSP00000281474:R370Q	R	+	2	0	0	BICD1	32371765	32371765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.561000	0.60809	2.592000	0.87571	0.650000	0.86243	CGG		0.622	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1		18.146394	-9	-9	29	29	NM_001714		6	18.365733	18.365733	10	0.375	0	0	0	1	0	6	10	0.375	A	32480498	G	A	32480498	3	1	80	1	0	0	0	0	1	0	0	0	1428	1116	39	1	1127	1	BICD1	12	32480498	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2809088	32480498	101371397	327	1842											
CNTN1	1272	broad.mit.edu	37	12	41421732	41421732	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:41421732C>T	ENST00000551295.2	+	22	2901	c.2784C>T	c.(2782-2784)gtC>gtT	p.V928V	CNTN1_ENST00000347616.1_Silent_p.V928V|CNTN1_ENST00000348761.2_Silent_p.V917V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	928	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGGATCATGTCGTTGCACTAT	0.388																																						ENST00000551295.2											0			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2782-2784)gtC>gtT	contactin 1						153	133	140					12																	41421732		2203	4300	6503	SO:0001819	synonymous_variant	1272			axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41421732C>T	Z21488	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30			2014-01-30				ENSG00000018236		ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	2171	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"glycoprotein gP135"	"glycoprotein gP135"	600016	600016						7959734, 8586965	7959734, 8586965	Standard	Standard	NM_001843	NM_001843		Approved	F3, GP135	uc031qgz.1	uc031qgz.1	Q12860	Q12860			ENST00000551295.2:c.2784C>T	12.37:g.41421732C>T			CNTN1_ENST00000347616.1_Silent_p.V928V|CNTN1_ENST00000348761.2_Silent_p.V917V	p.V928V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			22	2901	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	928	Fibronectin type-III 4.	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2784C>T	CCDS8737.1																																																																																									0.388	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2		16.003220	7	7	66	66	NM_001843		7	19.346772	19.346772	30	0.189189	0	0	0	1	0	7	30	0.189189	T	41421732	C	T	41421732	2	4	80	1	0	0	0	0	0	0	0	1	3640	871	31	1		1	CNTN1	12	41421732	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8941234	41421732	92430163	328	1843											
MLL2	8085	broad.mit.edu	37	12	49433784	49433784	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:49433784G>A	ENST00000301067.7	-	31	7768	c.7769C>T	c.(7768-7770)tCg>tTg	p.S2590L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2590	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGGCTGCCCGATGGGTGGAA	0.657																																						ENST00000301067.7											0										c.(7768-7770)tCg>tTg	lysine (K)-specific methyltransferase 2D						33	38	37					12																	49433784		1912	4117	6029	SO:0001583	missense	8085						g.chr12:49433784G>A	AF010403	AF010403	CCDS44873.1	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	7133	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602113	602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	9247308	Standard	Standard	NM_003482	NM_003482		Approved	ALR, MLL4, CAGL114			O14686	O14686	OTTHUMG00000166524	OTTHUMG00000166524	ENST00000301067.7:c.7769C>T	12.37:g.49433784G>A	ENSP00000301067:p.Ser2590Leu			p.S2590L	NM_003482.3	NP_003473.3					31	7768	-					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.7769C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	9.695	1.152869	0.21371	.	.	ENSG00000167548	ENST00000301067	T	0.79141	-1.24	5.24	4.3	0.51218	5.24	4.3	0.51218	.	0.000000	0.32147	N	0.006511	T	0.60818	0.2298	N	0.14661	0.345	0.27095	N	0.962752	B	0.06786	0.001	B	0.06405	0.002	T	0.57106	-0.7868	10	0.87932	D	0	.	9.7506	0.40473	0.0817:0.1445:0.7738:0.0	.	2590	O14686	MLL2_HUMAN	L	2590	ENSP00000301067:S2590L	ENSP00000301067:S2590L	S	-	2	0	0	MLL2	47720051	47720051	0.869000	0.29996	1.000000	0.80357	0.992000	0.81027	1.698000	0.37794	2.609000	0.88269	0.591000	0.81541	TCG		0.657	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		6.818385	-3	-3	18	18			3	7.681915	7.681915	10	0.230769	0	0	0	1	0	3	10	0.230769	A	49433784	G	A	49433784	3	1	80	1	0	0	0	0	1	0	0	0	9621	1059	37	1	8940	1	MLL2	12	49433784	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8012052	49433784	84418111	329	1844											
NCKAP5L	57701	broad.mit.edu	37	12	50188796	50188796	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:50188796C>T	ENST00000335999.6	-	8	3048	c.2847G>A	c.(2845-2847)ccG>ccA	p.P949P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	945										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCTCCGGAGCGGGGAGCCCC	0.652																																						ENST00000335999.6											0			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(2845-2847)ccG>ccA	NCK-associated protein 5-like						13	14	14					12																	50188796		1915	4108	6023	SO:0001819	synonymous_variant	57701						g.chr12:50188796C>T	AB046822	AB046822	CCDS41781.2	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566	ENSG00000167566	ENSG00000167566				29321	29321	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615104	615104	"KIAA1602"	KIAA1602	"KIAA1602"	KIAA1602				Standard	Standard	NM_001037806	NM_001037806		Approved		uc009zlk.2	uc009zlk.2	Q9HCH0	Q9HCH0	OTTHUMG00000156969	OTTHUMG00000156969	ENST00000335999.6:c.2847G>A	12.37:g.50188796C>T				p.P949P	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	3048	-			945		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.2847G>A	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	2.115	-0.402750	0.04865	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.23	-6.45	0.01914	5.23	-6.45	0.01914	.	.	.	.	.	T	0.38719	0.1051	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	4	.	.	.	-18.0814	3.866	0.09016	0.0958:0.4002:0.0947:0.4093	.	.	.	.	T	664	.	.	A	-	1	0	0	NCKAP5L	48475063	48475063	0.000000	0.05858	0.810000	0.32431	0.478000	0.33099	-2.900000	0.00704	-1.077000	0.03121	-0.448000	0.05591	GCT		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2		4.310418	-11	-11	14	14	XM_035497		3	6.89239	6.89239	18	0.142857	0	0	0	1	0	3	18	0.142857	T	50188796	C	T	50188796	2	4	80	1	0	0	0	0	0	0	0	1	10224	755	27	1		1	NCKAP5L	12	50188796	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	755012	50188796	83663099	330	1845											
SCN8A	6334	broad.mit.edu	37	12	52200942	52200942	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:52200942G>A	ENST00000354534.6	+	27	5850	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	RP11-923I11.3_ENST00000565518.1_lincRNA|AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Missense_Mutation_p.R1850H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1891					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACCACACTGCGTCGCAAGCAG	0.547																																						ENST00000354534.6											0			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5671-5673)cGt>cAt	sodium channel, voltage gated, type VIII, alpha subunit						135	141	139					12																	52200942		2079	4221	6300	SO:0001583	missense	6334			axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200942G>A	AB027567	AB027567	CCDS44891.1, CCDS53794.1	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23		2012-02-26	2007-01-23			ENSG00000196876		ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	10596	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600702	600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	7670495, 9828131, 16382098	Standard	Standard	NM_014191	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	uc001ryw.4	Q9UQD0	Q9UQD0			ENST00000354534.6:c.5672G>A	12.37:g.52200942G>A	ENSP00000346534:p.Arg1891His		SCN8A_ENST00000545061.1_Missense_Mutation_p.R1850H	p.R1891H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5850	+					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5672G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809232	0.70797	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96200	-3.94;-3.88	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	D	0.97617	1.0133	10	0.66056	D	0.02	.	18.9611	0.92678	0.0:0.0:1.0:0.0	.	1891	Q9UQD0	SCN8A_HUMAN	H	1891;1850	ENSP00000346534:R1891H;ENSP00000440360:R1850H	ENSP00000346534:R1891H	R	+	2	0	0	SCN8A	50487209	50487209	0.937000	0.31787	1.000000	0.80357	0.831000	0.47069	4.762000	0.62250	2.793000	0.96121	0.655000	0.94253	CGT		0.547	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3		-29.670062	0	0	207	207	NM_014191		4	6.836714	6.836714	144	0.027027	0	0	0	1	0	4	144	0.027027	A	52200942	G	A	52200942	3	1	80	1	0	0	0	0	1	0	0	0	13924	1145	40	1	5774	1	SCN8A	12	52200942	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2012146	52200942	81650953	331	1846											
KRT72	140807	broad.mit.edu	37	12	52984649	52984649	+	Missense_Mutation	SNP	G	G	A	rs201093386	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:52984649G>A	ENST00000537672.2	-	6	1070	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	KRT72_ENST00000398066.3_Missense_Mutation_p.R166C|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000293745.2_Missense_Mutation_p.R354C	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	354	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ATCTCTGAGCGGATCCTCTGG	0.488													G|||	2	0.000399361	8e-04	0	5008	,	,		21710	0		0	False		,,,				2504	0.001					ENST00000293745.2											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(1060-1062)Cgc>Tgc	keratin 72						98	93	95					12																	52984649		2203	4300	6503	SO:0001583	missense	140807				keratin filament	structural molecule activity	g.chr12:52984649G>A	AY033495	AY033495	CCDS8833.1, CCDS53795.1	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			2013-06-25			ENSG00000170486	ENSG00000170486	ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	"-", "Intermediate filaments type II, keratins (basic)"	28932	28932	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608246	608246						12648212, 11703281, 16831889	12648212, 11703281, 16831889	Standard	Standard	NM_080747	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	uc001saq.2	Q14CN4	Q14CN4	OTTHUMG00000169744	OTTHUMG00000169744	ENST00000537672.2:c.1060C>T	12.37:g.52984649G>A	ENSP00000441160:p.Arg354Cys		KRT72_ENST00000398066.3_Missense_Mutation_p.R166C|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000537672.2_Missense_Mutation_p.R354C	p.R354C	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	6	1145	-			354	Coil 2.|Rod.	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1060C>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670594	0.47781	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	T;T;T	0.78003	-1.14;-1.14;-1.14	5.14	4.24	0.50183	5.14	4.24	0.50183	Filament (1);	0.435804	0.19457	N	0.113790	D	0.83013	0.5162	H	0.95402	3.665	0.37568	D	0.919335	B	0.33345	0.409	B	0.33196	0.159	D	0.86466	0.1782	10	0.72032	D	0.01	.	10.0993	0.42495	0.0:0.1314:0.6027:0.266	.	354	Q14CN4	K2C72_HUMAN	C	354;354;166	ENSP00000441160:R354C;ENSP00000293745:R354C;ENSP00000446151:R166C	ENSP00000293745:R354C	R	-	1	0	0	KRT72	51270916	51270916	0.012000	0.17670	1.000000	0.80357	0.870000	0.49936	1.773000	0.38563	1.480000	0.48289	-0.176000	0.13171	CGC		0.488	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1		4.810880	-12	-12	69	69	NM_080747		6	14.142933	14.142933	53	0.101695	0	0	0	1	0	6	53	0.101695	A	52984649	G	A	52984649	3	1	80	1	0	0	0	0	1	0	0	0	8485	1116	39	1	491	1	KRT72	12	52984649	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	783707	52984649	80867246	332	1847											
MFSD5	84975	broad.mit.edu	37	12	53647517	53647517	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:53647517C>T	ENST00000329548.4	+	2	1089	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	MFSD5_ENST00000534842.1_Missense_Mutation_p.R407C	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	300					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCCCTGTACCGTATCGCCAC	0.567																																						ENST00000534842.1											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1219-1221)Cgt>Tgt	major facilitator superfamily domain containing 5						99	83	88					12																	53647517		2203	4300	6503	SO:0001583	missense	84975			transport	integral to membrane		g.chr12:53647517C>T	AK097576	AK097576	CCDS8851.1, CCDS53796.1	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			2012-03-09			ENSG00000182544	ENSG00000182544	ENSG00000182544	ENSG00000182544				28156	28156	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_032889	NM_032889		Approved	MGC11308	uc001sch.2	uc001sch.2	Q6N075	Q6N075	OTTHUMG00000170028	OTTHUMG00000170028	ENST00000329548.4:c.898C>T	12.37:g.53647517C>T	ENSP00000332624:p.Arg300Cys		MFSD5_ENST00000329548.4_Missense_Mutation_p.R300C	p.R407C	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN			2	1366	+			300		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.1219C>T	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	C	9.754	1.168143	0.21621	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.80566	-1.39;-1.39	5.04	4.15	0.48705	5.04	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.59436	1.845	0.80722	D	1	B;B	0.30361	0.083;0.277	B;B	0.20767	0.031;0.026	T	0.75010	-0.3468	10	0.72032	D	0.01	-1.6626	12.4044	0.55430	0.0:0.9165:0.0:0.0835	.	300;407	Q6N075;G3V1N7	MFSD5_HUMAN;.	C	407;407;407;300	ENSP00000442688:R407C;ENSP00000332624:R300C	ENSP00000331231:R407C	R	+	1	0	0	MFSD5	51933784	51933784	1.000000	0.71417	0.998000	0.56505	0.225000	0.24961	7.564000	0.82326	1.129000	0.42072	-0.258000	0.10820	CGT		0.567	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1		1.969788	-4	-4	53	53	NM_032889		4	8.365446	8.365446	36	0.1	0	0	0	1	0	4	36	0.1	T	53647517	C	T	53647517	3	4	80	1	0	0	0	0	1	0	0	0	9534	652	23	1	1225	1	MFSD5	12	53647517	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	662868	53647517	80204378	333	1848											
ITGA5	3678	broad.mit.edu	37	12	54799459	54799459	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:54799459G>A	ENST00000293379.4	-	11	1266	c.1005C>T	c.(1003-1005)gtC>gtT	p.V335V	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	335					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CATCCCCATTGACGTCTGTGG	0.547																																						ENST00000293379.4											0			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1003-1005)gtC>gtT	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)						87	74	78					12																	54799459		2203	4300	6503	SO:0001819	synonymous_variant	3678			angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54799459G>A			CCDS8880.1	CCDS8880.1	12q11-q13	2010-03-23			2010-03-23				ENSG00000161638		ENSG00000161638		"CD molecules", "Integrins"	"CD molecules", "Integrins"	6141	6141	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			135620	135620		FNRA		FNRA		2454952	2454952	Standard	Standard	NM_002205	NM_002205		Approved	CD49e	uc001sga.3	uc001sga.3	P08648	P08648	OTTHUMG00000169841	OTTHUMG00000169841	ENST00000293379.4:c.1005C>T	12.37:g.54799459G>A			RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.V335V	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			11	1266	-			335		Q96HA5	Silent	SNP	ENST00000293379.4	37	c.1005C>T	CCDS8880.1																																																																																									0.547	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		119.953345	4	4	80	80			38	121.183376	121.183376	20	0.655172	0	0	0	1	0	38	20	0.655172	A	54799459	G	A	54799459	2	1	80	1	0	0	0	0	0	0	0	1	7879	1277	45	3		3	ITGA5	12	54799459	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1151942	54799459	79052436	334	1849											
AGAP2	116986	broad.mit.edu	37	12	58125237	58125237	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:58125237C>T	ENST00000547588.1	-	10	2056	c.2057G>A	c.(2056-2058)cGa>cAa	p.R686Q	AGAP2_ENST00000257897.3_Missense_Mutation_p.R350Q	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	686	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATTGCCACTTCGTTTTAGTAG	0.473																																						ENST00000257897.3											0			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(1048-1050)cGa>cAa	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2						116	117	116					12																	58125237		2203	4300	6503	SO:0001583	missense	116986			axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58125237C>T	AF413077	AF413077	CCDS8951.1, CCDS44932.1	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	16921	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605476	605476	"centaurin, gamma 1"	CENTG1	"centaurin, gamma 1"	CENTG1				Standard	Standard	NM_001122772	NM_001122772		Approved		uc001spq.3	uc001spq.3	Q99490	Q99490	OTTHUMG00000170285	OTTHUMG00000170285	ENST00000547588.1:c.2057G>A	12.37:g.58125237C>T	ENSP00000449241:p.Arg686Gln		AGAP2_ENST00000547588.1_Missense_Mutation_p.R686Q	p.R350Q	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			10	1134	-			686	Interaction with PLCG1 (By similarity).	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.1049G>A	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970111	0.92855	.	.	ENSG00000135439	ENST00000257897;ENST00000547588;ENST00000549129	T;T;T	0.79141	-1.24;-1.24;-1.24	5.07	5.07	0.68467	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000002	D	0.83348	0.5235	L	0.37800	1.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.83433	0.0039	10	0.51188	T	0.08	.	17.7595	0.88460	0.0:1.0:0.0:0.0	.	350;686;686	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	Q	350;686;42	ENSP00000257897:R350Q;ENSP00000449241:R686Q;ENSP00000446683:R42Q	ENSP00000257897:R350Q	R	-	2	0	0	AGAP2	56411504	56411504	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.304000	0.78882	2.818000	0.97014	0.655000	0.94253	CGA		0.473	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1		81.041729	-55	-55	79	79	NM_014770		26	81.393054	81.393054	36	0.419355	0	0	0	1	0	26	36	0.419355	T	58125237	C	T	58125237	3	4	80	1	0	0	0	0	1	0	0	0	368	884	31	1	1561	1	AGAP2	12	58125237	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3325778	58125237	75726658	335	1850											
CYP27B1	1594	broad.mit.edu	37	12	58157521	58157521	+	Missense_Mutation	SNP	C	C	T	rs568165874		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:58157521C>T	ENST00000228606.4	-	8	1495	c.1286G>A	c.(1285-1287)cGt>cAt	p.R429H	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	429			R -> P (in VDDR1A). {ECO:0000269|PubMed:9837822}.		bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GCGAGCTGGACGAAAAGAATT	0.567																																						ENST00000228606.4											0			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	GRCh37	CM980514	CYP27B1	M		c.(1285-1287)cGt>cAt	cytochrome P450, family 27, subfamily B, polypeptide 1						62	68	66					12																	58157521		2203	4300	6503	SO:0001583	missense	1594			bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58157521C>T	AB006987	AB006987	CCDS8954.1	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012	ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	"Cytochrome P450s"	2606	2606	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	9295274, 9344864	Standard	Standard	NM_000785	NM_000785		Approved	CYP1, P450c1	uc001spz.1	uc001spz.1	O15528	O15528	OTTHUMG00000170457	OTTHUMG00000170457	ENST00000228606.4:c.1286G>A	12.37:g.58157521C>T	ENSP00000228606:p.Arg429His			p.R429H	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		8	1495	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		429		B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.1286G>A	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	9.747	1.166448	0.21621	.	.	ENSG00000111012	ENST00000228606	T	0.70045	-0.45	5.23	-0.551	0.11822	5.23	-0.551	0.11822	.	0.825490	0.11253	N	0.583388	T	0.54598	0.1868	L	0.45137	1.4	0.21553	N	0.999648	B	0.22146	0.065	B	0.24848	0.056	T	0.40346	-0.9568	10	0.15066	T	0.55	.	11.1924	0.48693	0.0:0.4814:0.0:0.5186	.	429	O15528	CP27B_HUMAN	H	429	ENSP00000228606:R429H	ENSP00000228606:R429H	R	-	2	0	0	CYP27B1	56443788	56443788	0.001000	0.12720	0.794000	0.32065	0.882000	0.50991	-0.098000	0.11024	-0.239000	0.09710	-1.598000	0.00824	CGT		0.567	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1		-2.008182	11	11	76	76	NM_000785		3	6.478019	6.478019	41	0.068182	0	0	0	1	0	3	41	0.068182	T	58157521	C	T	58157521	3	4	80	1	0	0	0	0	1	0	0	0	4159	536	19	1	248	1	CYP27B1	12	58157521	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	32284	58157521	75694374	336	1851											
MSRB3	253827	broad.mit.edu	37	12	65857066	65857066	+	Silent	SNP	C	C	T	rs370488628		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:65857066C>T	ENST00000355192.3	+	6	669	c.543C>T	c.(541-543)gtC>gtT	p.V181V	MSRB3_ENST00000535664.1_Silent_p.V174V|MSRB3_ENST00000308259.5_Silent_p.V174V	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	181					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GCAGTGGGGTCGCCAGCCCGG	0.502																																						ENST00000308259.5											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(520-522)gtC>gtT	methionine sulfoxide reductase B3						58	54	55					12																	65857066		2203	4300	6503	SO:0001819	synonymous_variant	253827			protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65857066C>T	BX640871	BX640871	CCDS8973.1, CCDS31853.1	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			2011-11-29			ENSG00000174099	ENSG00000174099	ENSG00000174099	ENSG00000174099				27375	27375	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613719	613719	"deafness, autosomal recessive 74"	DFNB74	"deafness, autosomal recessive 74"	DFNB74		21185009	21185009	Standard	Standard	NM_198080	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	uc021qzy.1	Q8IXL7	Q8IXL7	OTTHUMG00000168866	OTTHUMG00000168866	ENST00000355192.3:c.543C>T	12.37:g.65857066C>T			MSRB3_ENST00000355192.3_Silent_p.V181V|MSRB3_ENST00000535664.1_Silent_p.V174V	p.V174V	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	7	796	+			181		B4DR19|B7ZAQ0|Q6UXS2	Silent	SNP	ENST00000355192.3	37	c.522C>T	CCDS8973.1																																																																																									0.502	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1		7.346651	-29	-29	43	43	NM_198080		7	15.721318	15.721318	52	0.118644	0	0	0	1	0	7	52	0.118644	T	65857066	C	T	65857066	2	4	80	1	0	0	0	0	0	0	0	1	9889	871	31	1		1	MSRB3	12	65857066	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7699545	65857066	67994829	337	1852											
TBC1D15	64786	broad.mit.edu	37	12	72288569	72288569	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:72288569G>A	ENST00000550746.1	+	8	876	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	TBC1D15_ENST00000319106.8_Missense_Mutation_p.R262Q|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R254Q|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R25Q	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	271					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACATCAACGACCACCTTCA	0.388																																						ENST00000550746.1											0			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(811-813)cGa>cAa	TBC1 domain family, member 15						97	96	96					12																	72288569		2203	4299	6502	SO:0001583	missense	64786					protein binding|Rab GTPase activator activity	g.chr12:72288569G>A	AL157464	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			2013-07-09			ENSG00000121749	ENSG00000121749	ENSG00000121749	ENSG00000121749				25694	25694	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612662	612662						16055087	16055087	Standard	Standard	NM_022771	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	uc001swu.3	Q8TC07	Q8TC07	OTTHUMG00000158553	OTTHUMG00000158553	ENST00000550746.1:c.812G>A	12.37:g.72288569G>A	ENSP00000448182:p.Arg271Gln		TBC1D15_ENST00000319106.8_Missense_Mutation_p.R262Q|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R25Q|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R254Q	p.R271Q	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			8	876	+			271		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.812G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103992	0.94245	.	.	ENSG00000121749	ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.08984	3.2;3.23;3.24;3.03	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.066930	0.64402	D	0.000008	T	0.15522	0.0374	N	0.25485	0.75	0.58432	D	0.99999	D;D;D	0.76494	0.999;0.999;0.999	P;D;P	0.63793	0.83;0.918;0.652	T	0.17410	-1.0370	10	0.10636	T	0.68	-10.7911	19.1192	0.93355	0.0:0.0:1.0:0.0	.	262;254;271	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	Q	271;155;262;254;25	ENSP00000448182:R271Q;ENSP00000318262:R262Q;ENSP00000420678:R254Q;ENSP00000376986:R25Q	ENSP00000318262:R262Q	R	+	2	0	0	TBC1D15	70574836	70574836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.962000	0.87912	2.519000	0.84933	0.644000	0.83932	CGA		0.388	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2		85.481592	3	3	91	91	NM_022771		28	85.515395	85.515395	31	0.474576	0	0	0	1	0	28	31	0.474576	A	72288569	G	A	72288569	3	1	80	1	0	0	0	0	1	0	0	0	15601	1058	37	1	966	1	TBC1D15	12	72288569	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6431503	72288569	61563326	338	1853											
E2F7	144455	broad.mit.edu	37	12	77417851	77417851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:77417851G>A	ENST00000322886.7	-	13	2915	c.2680C>T	c.(2680-2682)Cga>Tga	p.R894*	E2F7_ENST00000416496.2_3'UTR	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	894					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGGTGTTTCGTGACTGGTTC	0.587																																						ENST00000322886.7											0			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(2680-2682)Cga>Tga	E2F transcription factor 7						132	131	131					12																	77417851		2203	4300	6503	SO:0001587	stop_gained	144455			cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77417851G>A	BC016658	BC016658	CCDS9016.1	CCDS9016.1	12q21.1	2008-02-05			2008-02-05				ENSG00000165891		ENSG00000165891				23820	23820	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612046	612046						12893818	12893818	Standard	Standard	NM_203394	NM_203394		Approved		uc001sym.4	uc001sym.4	Q96AV8	Q96AV8	OTTHUMG00000169969	OTTHUMG00000169969	ENST00000322886.7:c.2680C>T	12.37:g.77417851G>A	ENSP00000323246:p.Arg894*		E2F7_ENST00000416496.2_3'UTR	p.R894*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			13	2915	-			894		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Nonsense_Mutation	SNP	ENST00000322886.7	37	c.2680C>T	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	G	41	8.653156	0.98901	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	.	.	.	6.17	4.19	0.49359	6.17	4.19	0.49359	.	0.208419	0.37761	N	0.001945	.	.	.	.	.	.	0.31184	N	0.701703	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6583	11.7552	0.51872	0.0:0.0:0.5586:0.4414	.	.	.	.	X	894;365	.	ENSP00000323246:R894X	R	-	1	2	2	E2F7	75941982	75941982	0.993000	0.37304	0.444000	0.26895	0.725000	0.41563	2.762000	0.47597	1.600000	0.50102	0.655000	0.94253	CGA		0.587	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1		58.359501	-14	-14	134	134	XM_084871		22	62.470426	62.470426	61	0.26506	0	0	0	1	0	22	61	0.26506	A	77417851	G	A	77417851	4	1	80	1	0	0	0	0	0	1	0	0	4872	1153	40	1	59	1	E2F7	12	77417851	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5129282	77417851	56434044	339	1854											
C12orf26	84190	broad.mit.edu	37	12	82752382	82752382	+	Missense_Mutation	SNP	T	T	C	rs545160060		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:82752382T>C	ENST00000248306.3	+	1	107	c.38T>C	c.(37-39)cTg>cCg	p.L13P	METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	13							methyltransferase activity (GO:0008168)										ACCCCGGACCTGCCCACGCTG	0.622											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248306.3											0										c.(37-39)cTg>cCg	methyltransferase like 25						55	47	50					12																	82752382		2203	4300	6503	SO:0001583	missense	84190						g.chr12:82752382T>C	BC029120	BC029120	CCDS9024.1	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720	ENSG00000127720	ENSG00000127720				26228	26228	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 12 open reading frame 26"	C12orf26	"chromosome 12 open reading frame 26"	C12orf26				Standard	Standard	NM_032230	NM_032230		Approved	FLJ22789	uc001szq.3	uc001szq.3	Q8N6Q8	Q8N6Q8	OTTHUMG00000170252	OTTHUMG00000170252	ENST00000248306.3:c.38T>C	12.37:g.82752382T>C	ENSP00000248306:p.Leu13Pro	1216	CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR	p.L13P	NM_032230.2	NP_115606.2					1	107	+					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.38T>C	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651132	0.67472	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.38401	1.14	5.22	4.0	0.46444	5.22	4.0	0.46444	.	0.631611	0.15637	N	0.252084	T	0.49949	0.1587	M	0.76574	2.34	0.28316	N	0.922456	D	0.63880	0.993	P	0.59288	0.855	T	0.50127	-0.8864	10	0.72032	D	0.01	-6.825	4.8582	0.13570	0.0:0.0951:0.1911:0.7138	.	13	Q8N6Q8	CL026_HUMAN	P	13	ENSP00000248306:L13P	ENSP00000248306:L13P	L	+	2	0	0	C12orf26	81276513	81276513	0.843000	0.29541	0.926000	0.36857	0.918000	0.54935	2.224000	0.42945	1.972000	0.57404	0.528000	0.53228	CTG		0.622	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1		0.498013	0	0	40	40	NM_032230		3	6.848948	6.848948	33	0.083333	0	0	0	1	0	3	33	0.083333	C	82752382	T	C	82752382	3	2	80	1	0	0	0	0	1	0	0	0	1679	1580	55	4	40	4	C12orf26	12	82752382	Missense_Mutation	SNP	T	TCGA-YZ-A985-01A-11D-A39W-08	5334531	82752382	51099513	340	1855											
TMTC3	160418	broad.mit.edu	37	12	88566445	88566445	+	Silent	SNP	C	C	T	rs376400054		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:88566445C>T	ENST00000266712.6	+	8	1342	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	374					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTGTTGTTGCCGAGCGAGTAT	0.353													C|||	1	0.000199681	0	0	5008	,	,		10689	0.001		0	False		,,,				2504	0					ENST00000266712.6											0			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1120-1122)gcC>gcT	transmembrane and tetratricopeptide repeat containing 3	C		0,4406		0,0,2203	123	120	121		1122	-0.9	1	12		121	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TMTC3	NM_181783.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		374/915	88566445	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	160418				integral to membrane	binding	g.chr12:88566445C>T			CCDS9032.1	CCDS9032.1	12q21.32	2014-09-04			2014-09-04			ENSG00000139324	ENSG00000139324	ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	26899	26899	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_181783	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	uc001tau.3	Q6ZXV5	Q6ZXV5	OTTHUMG00000169887	OTTHUMG00000169887	ENST00000266712.6:c.1122C>T	12.37:g.88566445C>T				p.A374A	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1342	+			374		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	ENST00000266712.6	37	c.1122C>T	CCDS9032.1																																																																																									0.353	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1		48.214545	-12	-12	127	127	NM_181783		18	52.660036	52.660036	56	0.243243	0	0	0	1	0	18	56	0.243243	T	88566445	C	T	88566445	2	4	80	1	0	0	0	0	0	0	0	1	16259	639	23	1		1	TMTC3	12	88566445	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5814063	88566445	45285450	341	1856											
C12orf12	196477	broad.mit.edu	37	12	91348368	91348368	+	Missense_Mutation	SNP	G	G	A	rs146867450		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:91348368G>A	ENST00000358859.2	-	1	585	c.152C>T	c.(151-153)cCg>cTg	p.P51L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	51																	ATATCGGTGCGGTCTATTGTA	0.652																																						ENST00000358859.2											0										c.(151-153)cCg>cTg	coiled-coil glutamate-rich protein 1	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	35	35	35		152	4	0	12	dbSNP_134	35	0,8600		0,0,4300	no	missense	C12orf12	NM_152638.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	51/407	91348368	1,13005	2203	4300	6503	SO:0001583	missense	196477						g.chr12:91348368G>A	BC024183	BC024183	CCDS9036.1	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651	ENSG00000197651	ENSG00000197651				28373	28373	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 12 open reading frame 12"	C12orf12	"chromosome 12 open reading frame 12"	C12orf12		17967063	17967063	Standard	Standard	NM_152638	NM_152638		Approved	MGC26598	uc001tbj.3	uc001tbj.3	Q8TC90	Q8TC90	OTTHUMG00000170070	OTTHUMG00000170070	ENST00000358859.2:c.152C>T	12.37:g.91348368G>A	ENSP00000351727:p.Pro51Leu		CCER1_ENST00000548187.1_Intron	p.P51L	NM_152638.2	NP_689851.1					1	585	-					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.152C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	4.690	0.128353	0.08981	2.27E-4	0.0	ENSG00000197651	ENST00000358859	T	0.37411	1.2	4.87	3.98	0.46160	4.87	3.98	0.46160	.	0.283059	0.19197	N	0.120278	T	0.17874	0.0429	N	0.08118	0	0.09310	N	1	B	0.29571	0.249	B	0.19148	0.024	T	0.11842	-1.0571	10	0.38643	T	0.18	-5.9456	11.1284	0.48333	0.0:0.8097:0.1903:0.0	.	51	Q8TC90	CL012_HUMAN	L	51	ENSP00000351727:P51L	ENSP00000351727:P51L	P	-	2	0	0	C12orf12	89872499	89872499	0.018000	0.18449	0.005000	0.12908	0.002000	0.02628	1.951000	0.40333	1.281000	0.44480	-0.539000	0.04255	CCG		0.652	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2		2.301166	2	2	27	27	NM_152638		3	7.352277	7.352277	28	0.096774	0	0	0	1	0	3	28	0.096774	A	91348368	G	A	91348368	3	1	80	1	0	0	0	0	1	0	0	0	1676	1116	39	1	1072	1	C12orf12	12	91348368	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2781923	91348368	42503527	342	1857											
ULK1	8408	broad.mit.edu	37	12	132396495	132396495	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:132396495C>T	ENST00000321867.4	+	13	1308	c.957C>T	c.(955-957)ggC>ggT	p.G319G		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	319	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGTCCCTGGGCGAGATGCAGC	0.647																																						ENST00000321867.4											0			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(955-957)ggC>ggT	unc-51 like autophagy activating kinase 1						49	47	48					12																	132396495		2203	4299	6502	SO:0001819	synonymous_variant	8408			autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132396495C>T	AF045458	AF045458	CCDS9274.1	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169	ENSG00000177169	ENSG00000177169				12558	12558	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"		"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	9693035	Standard	Standard	NM_003565	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	uc001uje.3	O75385	O75385	OTTHUMG00000168052	OTTHUMG00000168052	ENST00000321867.4:c.957C>T	12.37:g.132396495C>T				p.G319G	NM_003565.2	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	13	1308	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		319	Interaction with GABARAP and GABARAPL2.	Q9UQ28	Silent	SNP	ENST00000321867.4	37	c.957C>T	CCDS9274.1																																																																																									0.647	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3		48.497029	-5	-5	57	57			16	48.620791	48.620791	12	0.571429	0	0	0	1	0	16	12	0.571429	T	132396495	C	T	132396495	2	4	80	1	0	0	0	0	0	0	0	1	16972	755	27	1		1	ULK1	12	132396495	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	41048127	132396495	1455400	343	1858											
KL	9365	broad.mit.edu	37	13	33635718	33635718	+	Silent	SNP	C	C	T	rs147748913		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:33635718C>T	ENST00000380099.3	+	4	2510	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	834	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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 bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAGAAATGACCGACATCACGT	0.473																																						ENST00000380099.3											0			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2500-2502)acC>acT	klotho	C		0,4406		0,0,2203	90	89	90		2502	-12.1	0	13	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KL	NM_004795.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		834/1013	33635718	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9365			aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635718C>T	AB005142	AB005142	CCDS9347.1	CCDS9347.1	13q12	2008-02-05			2008-02-05			ENSG00000133116	ENSG00000133116	ENSG00000133116	ENSG00000133116				6344	6344	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604824	604824						9464267	9464267	Standard	Standard	NM_004795	NM_004795		Approved		uc001uus.3	uc001uus.3	Q9UEF7	Q9UEF7	OTTHUMG00000017408	OTTHUMG00000017408	ENST00000380099.3:c.2502C>T	13.37:g.33635718C>T			KL_ENST00000487852.1_3'UTR	p.T834T	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2510	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	834	Glycosyl hydrolase-1 2.	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.2502C>T	CCDS9347.1																																																																																									0.473	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		-2.413262	-9	-9	72	72			3	7.159583	7.159583	45	0.0625	0	0	0	1	0	3	45	0.0625	T	33635718	C	T	33635718	2	4	80	1	0	0	0	0	0	0	0	1	8331	639	23	1		1	KL	13	33635718	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		33635718	81534160	344	1859											
KL	9365	broad.mit.edu	37	13	33638014	33638014	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:33638014C>T	ENST00000380099.3	+	5	2738	c.2730C>T	c.(2728-2730)tgC>tgT	p.C910C	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	910	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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 bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCAATCTTTGCGGATACTTTG	0.403																																						ENST00000380099.3											0			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2728-2730)tgC>tgT	klotho						171	178	176					13																	33638014		2203	4300	6503	SO:0001819	synonymous_variant	9365			aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638014C>T	AB005142	AB005142	CCDS9347.1	CCDS9347.1	13q12	2008-02-05			2008-02-05			ENSG00000133116	ENSG00000133116	ENSG00000133116	ENSG00000133116				6344	6344	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604824	604824						9464267	9464267	Standard	Standard	NM_004795	NM_004795		Approved		uc001uus.3	uc001uus.3	Q9UEF7	Q9UEF7	OTTHUMG00000017408	OTTHUMG00000017408	ENST00000380099.3:c.2730C>T	13.37:g.33638014C>T			KL_ENST00000487852.1_3'UTR	p.C910C	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	2738	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	910	Glycosyl hydrolase-1 2.	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.2730C>T	CCDS9347.1																																																																																									0.403	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		77.890673	0	0	194	194			30	85.420054	85.420054	94	0.241935	0	0	0	1	0	30	94	0.241935	T	33638014	C	T	33638014	2	4	80	1	0	0	0	0	0	0	0	1	8331	776	27	1		1	KL	13	33638014	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2296	33638014	81531864	345	1860											
ZC3H13	23091	broad.mit.edu	37	13	46616352	46616352	+	Missense_Mutation	SNP	C	C	T	rs199682940		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:46616352C>T	ENST00000242848.4	-	4	634	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	ZC3H13_ENST00000282007.3_Missense_Mutation_p.V96M			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	96							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCAGTGTCCACGTCTTGGCGC	0.413																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4											0			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(286-288)Gtg>Atg	zinc finger CCCH-type containing 13						211	193	199					13																	46616352		2203	4300	6503	SO:0001583	missense	23091					nucleic acid binding|zinc ion binding	g.chr13:46616352C>T	AB020660	AB020660	CCDS9400.1	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	"Zinc fingers, CCCH-type domain containing"	20368	20368	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"KIAA0853"	KIAA0853	"KIAA0853"	KIAA0853		10048485	10048485	Standard	Standard	XM_005266301	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	uc001vas.1	Q5T200	Q5T200	OTTHUMG00000016863	OTTHUMG00000016863	ENST00000242848.4:c.286G>A	13.37:g.46616352C>T	ENSP00000242848:p.Val96Met		ZC3H13_ENST00000282007.3_Missense_Mutation_p.V96M	p.V96M			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	4	634	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	96		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.286G>A		.	.	.	.	.	.	.	.	.	.	C	11.66	1.705657	0.30232	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.38077	2.11;1.16	5.43	4.59	0.56863	5.43	4.59	0.56863	.	0.000000	0.51477	D	0.000087	T	0.23806	0.0576	L	0.27053	0.805	0.80722	D	1	P;P	0.50369	0.892;0.934	B;B	0.37650	0.13;0.255	T	0.03651	-1.1016	10	0.54805	T	0.06	.	11.295	0.49274	0.0:0.8533:0.0:0.1467	.	96;96	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	M	96	ENSP00000242848:V96M;ENSP00000282007:V96M	ENSP00000242848:V96M	V	-	1	0	0	ZC3H13	45514353	45514353	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	3.503000	0.53340	1.300000	0.44818	0.467000	0.42956	GTG		0.413	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1		7.741504	3	3	87	87	NM_015070		8	19.765855	19.765855	69	0.103896	0	0	0	1	0	8	69	0.103896	T	46616352	C	T	46616352	3	4	80	1	0	0	0	0	1	0	0	0	17562	536	19	1	4464	1	ZC3H13	13	46616352	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12978338	46616352	68553526	346	1861											
THSD1	55901	broad.mit.edu	37	13	52952669	52952669	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:52952669G>A	ENST00000258613.4	-	5	1614	c.1436C>T	c.(1435-1437)tCg>tTg	p.S479L	THSD1_ENST00000349258.4_Missense_Mutation_p.S426L|THSD1_ENST00000544466.1_Missense_Mutation_p.S100L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	479					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCCCCCATCCGAGAAGCTCCC	0.652																																						ENST00000349258.4											0			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1276-1278)tCg>tTg	thrombospondin, type I, domain containing 1						45	51	49					13																	52952669		2203	4300	6503	SO:0001583	missense	55901				extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952669G>A	AK096289	AK096289	CCDS9432.1, CCDS9433.1	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114	ENSG00000136114	ENSG00000136114				17754	17754	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"thrombospondin, type I, domain 1"		"thrombospondin, type I, domain 1"					Standard	Standard	NM_018676	NM_018676		Approved	TMTSP	uc001vgo.3	uc001vgo.3	Q9NS62	Q9NS62	OTTHUMG00000016963	OTTHUMG00000016963	ENST00000258613.4:c.1436C>T	13.37:g.52952669G>A	ENSP00000258613:p.Ser479Leu		THSD1_ENST00000258613.4_Missense_Mutation_p.S479L|THSD1_ENST00000544466.1_Missense_Mutation_p.S100L	p.S426L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	1821	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	479		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1277C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	g	16.22	3.061347	0.55432	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.47528	1.51;0.84;1.72	6.06	5.22	0.72569	6.06	5.22	0.72569	.	0.069945	0.64402	D	0.000015	T	0.44767	0.1309	M	0.71581	2.175	0.47621	D	0.999472	P;P	0.37525	0.588;0.598	B;B	0.29524	0.103;0.076	T	0.51942	-0.8641	10	0.87932	D	0	-9.7381	12.488	0.55885	0.1382:0.0:0.8618:0.0	.	426;479	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	L	426;100;479	ENSP00000340650:S426L;ENSP00000438512:S100L;ENSP00000258613:S479L	ENSP00000258613:S479L	S	-	2	0	0	THSD1	51850670	51850670	1.000000	0.71417	0.909000	0.35828	0.012000	0.07955	5.899000	0.69846	1.577000	0.49804	0.650000	0.86243	TCG		0.652	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3		38.869962	-6	-6	45	45			13	39.045813	39.045813	18	0.419355	0	0	0	1	0	13	18	0.419355	A	52952669	G	A	52952669	3	1	80	1	0	0	0	0	1	0	0	0	15874	1059	37	1	1126	1	THSD1	13	52952669	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6336317	52952669	62217209	347	1862											
RNF113B	140432	broad.mit.edu	37	13	98829458	98829458	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:98829458G>A	ENST00000267291.6	-	1	61	c.33C>T	c.(31-33)gcC>gcT	p.A11A	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	11							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CTGCTTGGTCGGCCGTCCTTC	0.652																																						ENST00000267291.6											0			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(31-33)gcC>gcT	ring finger protein 113B						44	40	41					13																	98829458		2203	4300	6503	SO:0001819	synonymous_variant	140432					nucleic acid binding|zinc ion binding	g.chr13:98829458G>A	AF539427	AF539427	CCDS9486.1	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797	ENSG00000139797	ENSG00000139797		"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	17267	17267	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger protein 183-like 1"	ZNF183L1	"zinc finger protein 183-like 1"	ZNF183L1				Standard	Standard	NM_178861	NM_178861		Approved	RNF161	uc001vnk.3	uc001vnk.3	Q8IZP6	Q8IZP6	OTTHUMG00000017245	OTTHUMG00000017245	ENST00000267291.6:c.33C>T	13.37:g.98829458G>A			FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	p.A11A	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	61	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		11		Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.33C>T	CCDS9486.1																																																																																									0.652	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3		23.358448	-31	-31	35	35	NM_178861		9	25.403132	25.403132	27	0.25	0	0	0	1	0	9	27	0.25	A	98829458	G	A	98829458	2	1	80	1	0	0	0	0	0	0	0	1	13428	1103	39	1		1	RNF113B	13	98829458	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	45876789	98829458	16340420	348	1863											
COL4A1	1282	broad.mit.edu	37	13	110804776	110804776	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:110804776C>T	ENST00000375820.4	-	51	4954	c.4833G>A	c.(4831-4833)gcG>gcA	p.A1611A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1611	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGATGAATGGCGCACTTCTAA	0.587																																						ENST00000375820.4											0			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(4831-4833)gcG>gcA	collagen, type IV, alpha 1						70	59	63					13																	110804776		2203	4300	6503	SO:0001819	synonymous_variant	1282			angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110804776C>T	J04217	J04217	CCDS9511.1	CCDS9511.1	13q34	2013-09-05			2013-09-05			ENSG00000187498	ENSG00000187498	ENSG00000187498	ENSG00000187498		"Collagens"	"Collagens"	2202	2202	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120130	120130						3691802	3691802	Standard	Standard	NM_001845	NM_001845		Approved		uc001vqw.4	uc001vqw.4	P02462	P02462	OTTHUMG00000017342	OTTHUMG00000017342	ENST00000375820.4:c.4833G>A	13.37:g.110804776C>T				p.A1611A	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		51	4954	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1611	Collagen IV NC1.	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.4833G>A	CCDS9511.1																																																																																									0.587	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		78.941574	-2	-2	111	111			26	79.292882	79.292882	36	0.419355	0	0	0	1	0	26	36	0.419355	T	110804776	C	T	110804776	2	4	80	1	0	0	0	0	0	0	0	1	3689	755	27	1		1	COL4A1	13	110804776	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	11975318	110804776	4365102	349	1864											
COL4A1	1282	broad.mit.edu	37	13	110862385	110862385	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:110862385G>A	ENST00000375820.4	-	10	678	c.557C>T	c.(556-558)cCa>cTa	p.P186L	COL4A1_ENST00000543140.1_Missense_Mutation_p.P186L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	186	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGTCCTGGTGGGCCCTAGAA	0.502																																						ENST00000375820.4											0			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(556-558)cCa>cTa	collagen, type IV, alpha 1						68	72	70					13																	110862385		2203	4300	6503	SO:0001583	missense	1282			angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110862385G>A	J04217	J04217	CCDS9511.1	CCDS9511.1	13q34	2013-09-05			2013-09-05			ENSG00000187498	ENSG00000187498	ENSG00000187498	ENSG00000187498		"Collagens"	"Collagens"	2202	2202	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120130	120130						3691802	3691802	Standard	Standard	NM_001845	NM_001845		Approved		uc001vqw.4	uc001vqw.4	P02462	P02462	OTTHUMG00000017342	OTTHUMG00000017342	ENST00000375820.4:c.557C>T	13.37:g.110862385G>A	ENSP00000364979:p.Pro186Leu		COL4A1_ENST00000543140.1_Missense_Mutation_p.P186L	p.P186L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		10	678	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	186	Triple-helical region.	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.557C>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161313	0.21538	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.97731	-4.51;-4.51	5.0	3.27	0.37495	5.0	3.27	0.37495	.	0.762691	0.11760	N	0.532133	D	0.93749	0.8002	L	0.35487	1.065	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.82904	-0.0226	10	0.09084	T	0.74	.	9.6694	0.40004	0.2257:0.0:0.7743:0.0	.	186;186	F5H5K0;P02462	.;CO4A1_HUMAN	L	177;186;186;186	ENSP00000364979:P186L;ENSP00000443348:P186L	ENSP00000364973:P177L	P	-	2	0	0	COL4A1	109660386	109660386	0.000000	0.05858	0.001000	0.08648	0.158000	0.22134	0.770000	0.26618	0.623000	0.30267	0.637000	0.83480	CCA		0.502	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		58.854238	-10	-10	33	33			18	59.030113	59.030113	13	0.580645	0	0	0	1	0	18	13	0.580645	A	110862385	G	A	110862385	3	1	80	1	0	0	0	0	1	0	0	0	3689	1348	47	3	4624	3	COL4A1	13	110862385	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	57609	110862385	4307493	350	1865											
F7	2155	broad.mit.edu	37	13	113772927	113772927	+	Missense_Mutation	SNP	G	G	A	rs374305125		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:113772927G>A	ENST00000375581.3	+	9	1041	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	F7_ENST00000541084.1_Missense_Mutation_p.V267M|F7_ENST00000346342.3_Missense_Mutation_p.V314M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	336	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCTGGCCTTCGTGCGCTTCTC	0.677																																						ENST00000375581.3											0			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CD010610	F7	D		c.(1006-1008)Gtg>Atg	coagulation factor VII (serum prothrombin conversion accelerator)	G	MET/VAL,MET/VAL	1,4403	2.1+/-5.4	0,1,2201	50	44	46		1006,940	-2.4	0	13		46	0,8596		0,0,4298	no	missense,missense	F7	NM_000131.3,NM_019616.2	21,21	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	336/467,314/445	113772927	1,12999	2202	4298	6500	SO:0001583	missense	2155			anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772927G>A			CCDS9528.1, CCDS9529.1, CCDS73602.1	CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			2014-02-03			ENSG00000057593	ENSG00000057593	ENSG00000057593	ENSG00000057593	3.4.21.21			3544	3544	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878	613878						3264725, 2511201	3264725, 2511201	Standard	Standard	NM_000131	NM_000131		Approved		uc001vsv.4	uc001vsv.4	P08709	P08709	OTTHUMG00000017373	OTTHUMG00000017373	ENST00000375581.3:c.1006G>A	13.37:g.113772927G>A	ENSP00000364731:p.Val336Met		F7_ENST00000541084.1_Missense_Mutation_p.V267M|F7_ENST00000346342.3_Missense_Mutation_p.V314M	p.V336M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1041	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	336	Peptidase S1.	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.1006G>A	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	G	9.376	1.071860	0.20147	2.27E-4	0.0	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.88509	-2.39;-2.39;-2.39	4.41	-2.42	0.06542	4.41	-2.42	0.06542	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.386281	0.26616	N	0.023387	D	0.89037	0.6601	L	0.46157	1.445	0.20563	N	0.99989	D;D;D	0.76494	0.998;0.998;0.999	D;P;P	0.64776	0.929;0.866;0.889	T	0.82502	-0.0425	10	0.45353	T	0.12	.	9.9882	0.41854	0.5973:0.0:0.4027:0.0	.	267;314;336	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	M	314;267;336	ENSP00000329546:V314M;ENSP00000442051:V267M;ENSP00000364731:V336M	ENSP00000329546:V314M	V	+	1	0	0	F7	112820928	112820928	0.180000	0.23148	0.045000	0.18777	0.011000	0.07611	0.625000	0.24477	-0.303000	0.08856	-0.373000	0.07131	GTG		0.677	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4		18.715348	-9	-9	29	29	NM_000131		7	19.648349	19.648349	17	0.291667	0	0	0	1	0	7	17	0.291667	A	113772927	G	A	113772927	3	1	80	1	0	0	0	0	1	0	0	0	5349	1145	40	1	1040	1	F7	13	113772927	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2910542	113772927	1396951	351	1866											
PSMB11	122706	broad.mit.edu	37	14	23512169	23512169	+	Silent	SNP	C	C	T	rs186544245	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:23512169C>T	ENST00000408907.2	+	1	794	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	245					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)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GTGTGCTGTACGTGGAGTTAC	0.597													C|||	7	0.00139776	0.0015	0	5008	,	,		17863	0.005		0	False		,,,				2504	0					ENST00000408907.2											0			endometrium(1)|kidney(2)|lung(4)	7						c.(733-735)taC>taT	proteasome (prosome, macropain) subunit, beta type, 11	C		4,4356		0,4,2176	38	42	40		735	3.2	0.5	14		40	0,8584		0,0,4292	no	coding-synonymous	PSMB11	NM_001099780.1		0,4,6468	TT,TC,CC		0.0,0.0917,0.0309		245/301	23512169	4,12940	2180	4292	6472	SO:0001819	synonymous_variant	122706			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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23512169C>T			CCDS41923.1	CCDS41923.1	14q11.2	2008-01-31			2008-01-31				ENSG00000222028		ENSG00000222028				31963	31963	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611137	611137						17540904	17540904	Standard	Standard	NM_001099780	NM_001099780		Approved	beta5t	uc010ake.1	uc010ake.1	A5LHX3	A5LHX3			ENST00000408907.2:c.735C>T	14.37:g.23512169C>T				p.Y245Y	NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	794	+	all_cancers(95;3.3e-05)		245			Silent	SNP	ENST00000408907.2	37	c.735C>T	CCDS41923.1																																																																																									0.597	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1		6.717185	-3	-3	28	28	NM_001099780		4	9.669009	9.669009	22	0.153846	0	0	0	1	0	4	22	0.153846	T	23512169	C	T	23512169	2	4	80	1	0	0	0	0	0	0	0	1	12676	547	19	1		1	PSMB11	14	23512169	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		23512169	83837371	352	1867											
IL25	64806	broad.mit.edu	37	14	23845042	23845042	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:23845042C>T	ENST00000329715.2	+	2	745	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|IL25_ENST00000397242.2_Missense_Mutation_p.R147C|CMTM5_ENST00000555731.1_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	163					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CAGGCTGTACCGTGTTTCCTT	0.612																																						ENST00000329715.2											0			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(487-489)Cgt>Tgt	interleukin 25						157	142	147					14																	23845042		2203	4300	6503	SO:0001583	missense	0			inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845042C>T	AF305200	AF305200	CCDS9597.1, CCDS45086.1	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090	ENSG00000166090	ENSG00000166090		"Interleukins and interleukin receptors"	"Interleukins and interleukin receptors"	13765	13765	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605658	605658	"interleukin 17E"	IL17E	"interleukin 17E"	IL17E		11058597, 11754819	11058597, 11754819	Standard	Standard	NM_172314	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	uc001wjq.3	Q9H293	Q9H293	OTTHUMG00000028749	OTTHUMG00000028749	ENST00000329715.2:c.487C>T	14.37:g.23845042C>T	ENSP00000328111:p.Arg163Cys		IL25_ENST00000397242.2_Missense_Mutation_p.R147C	p.R163C	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	745	+	all_cancers(95;2e-05)		163		Q2M3F0|Q8IZV3|Q8WXB0	Missense_Mutation	SNP	ENST00000329715.2	37	c.487C>T	CCDS9597.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062144	0.76187	.	.	ENSG00000166090	ENST00000397242;ENST00000329715	T;T	0.56275	0.47;0.47	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.391738	0.22245	N	0.062631	T	0.61464	0.2349	L	0.54323	1.7	0.47153	D	0.999339	D;D	0.76494	0.999;0.998	P;P	0.57679	0.825;0.742	T	0.63093	-0.6714	10	0.54805	T	0.06	-10.6501	12.7393	0.57241	0.0:1.0:0.0:0.0	.	163;147	Q9H293;Q9H293-2	IL25_HUMAN;.	C	147;163	ENSP00000380417:R147C;ENSP00000328111:R163C	ENSP00000328111:R163C	R	+	1	0	0	IL25	22914882	22914882	0.987000	0.35691	0.980000	0.43619	0.983000	0.72400	3.627000	0.54252	2.405000	0.81733	0.561000	0.74099	CGT		0.612	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2		96.153702	-9	-9	86	86			30	96.153702	96.153702	30	0.5	0	0	0	1	0	30	30	0.5	T	23845042	C	T	23845042	3	4	80	1	0	0	0	0	1	0	0	0	7678	652	23	1	506	1	IL25	14	23845042	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	332873	23845042	83504498	353	1868											
CPNE6	9362	broad.mit.edu	37	14	24543954	24543954	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:24543954C>T	ENST00000397016.2	+	8	933	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	CPNE6_ENST00000537691.1_Missense_Mutation_p.R263C|CPNE6_ENST00000216775.2_Missense_Mutation_p.R208C	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	208	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGAGCCGTTCCGCCTGTCCCT	0.557																																						ENST00000397016.2											0			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(622-624)Cgc>Tgc	copine VI (neuronal)						83	78	80					14																	24543954		2203	4300	6503	SO:0001583	missense	9362			lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24543954C>T	AB009288	AB009288	CCDS9607.1, CCDS61413.1	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			2008-07-09			ENSG00000100884	ENSG00000100884	ENSG00000100884	ENSG00000100884				2319	2319	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605688	605688						9645480	9645480	Standard	Standard	NM_001280558	NM_001280558		Approved		uc001wll.3	uc001wll.3	O95741	O95741	OTTHUMG00000028781	OTTHUMG00000028781	ENST00000397016.2:c.622C>T	14.37:g.24543954C>T	ENSP00000380211:p.Arg208Cys		CPNE6_ENST00000537691.1_Missense_Mutation_p.R263C|CPNE6_ENST00000216775.2_Missense_Mutation_p.R208C	p.R208C	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	8	933	+			208	C2 2.	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.622C>T	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896233	0.72639	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.70045	-0.45;-0.45;-0.45	4.89	4.89	0.63831	4.89	4.89	0.63831	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000025	T	0.69548	0.3123	L	0.28556	0.865	0.49483	D	0.999795	D;D	0.89917	1.0;0.998	P;D	0.65443	0.894;0.935	T	0.72127	-0.4384	10	0.72032	D	0.01	-27.0527	11.0714	0.48006	0.1854:0.8146:0.0:0.0	.	263;208	F5GXN1;O95741	.;CPNE6_HUMAN	C	263;208;208	ENSP00000440077:R263C;ENSP00000380211:R208C;ENSP00000216775:R208C	ENSP00000216775:R208C	R	+	1	0	0	CPNE6	23613794	23613794	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.351000	0.52232	2.435000	0.82474	0.313000	0.20887	CGC		0.557	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5		11.697111	2	2	22	22			4	11.877031	11.877031	7	0.363636	0	0	0	1	0	4	7	0.363636	T	24543954	C	T	24543954	3	4	80	1	0	0	0	0	1	0	0	0	3816	652	23	1	644	1	CPNE6	14	24543954	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	698912	24543954	82805586	354	1869											
REC8	9985	broad.mit.edu	37	14	24642157	24642157	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:24642157G>A	ENST00000311457.3	+	4	774	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	REC8_ENST00000559919.1_Missense_Mutation_p.G59S			O95072	REC8_HUMAN	REC8 meiotic recombination protein	59					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGCAGCCCGGCCTGCCGCG	0.607																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3											0			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(175-177)Ggc>Agc	REC8 meiotic recombination protein						54	63	60					14																	24642157		1971	4132	6103	SO:0001583	missense	9985			mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642157G>A	AF006264	AF006264	CCDS41932.1	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918		ENSG00000100918				16879	16879	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608193	608193	"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1	"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1		10207075, 15935783, 12759374	10207075, 15935783, 12759374	Standard	Standard	NM_005132	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	uc001wms.3	O95072	O95072			ENST00000311457.3:c.175G>A	14.37:g.24642157G>A	ENSP00000308699:p.Gly59Ser		REC8_ENST00000559919.1_Missense_Mutation_p.G59S	p.G59S			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	774	+			59		A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	ENST00000311457.3	37	c.175G>A	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933634	0.92458	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.24723	1.84	5.39	4.5	0.54988	5.39	4.5	0.54988	Rad21/Rec8-like protein, N-terminal (1);	0.114287	0.64402	N	0.000014	T	0.23688	0.0573	L	0.27053	0.805	0.39814	D	0.972744	D;D	0.56287	0.957;0.975	B;P	0.49922	0.336;0.626	T	0.03354	-1.1045	10	0.23302	T	0.38	-12.6272	11.2615	0.49085	0.0868:0.0:0.9132:0.0	.	59;59	O95072-2;O95072	.;REC8_HUMAN	S	59	ENSP00000308699:G59S	ENSP00000308699:G59S	G	+	1	0	0	REC8	23711997	23711997	0.948000	0.32251	0.773000	0.31616	0.922000	0.55478	2.279000	0.43435	1.253000	0.44018	0.561000	0.74099	GGC		0.607	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3		21.057322	-22	-22	39	39	NM_005132		9	24.21961	24.21961	33	0.214286	0	0	0	1	0	9	33	0.214286	A	24642157	G	A	24642157	3	1	80	1	0	0	0	0	1	0	0	0	13199	1116	39	1	185	1	REC8	14	24642157	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	98203	24642157	82707383	355	1870											
KIAA0586	9786	broad.mit.edu	37	14	58932657	58932657	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:58932657G>A	ENST00000556134.1	+	16	2393	c.2119G>A	c.(2119-2121)Gat>Aat	p.D707N	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.D646N|KIAA0586_ENST00000354386.6_Missense_Mutation_p.D775N|KIAA0586_ENST00000423743.3_Missense_Mutation_p.D678N	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	707					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCATGGCGATCAGCAATA	0.368																																						ENST00000423743.3											0			endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2032-2034)Gat>Aat	KIAA0586						166	159	161					14																	58932657		1897	4110	6007	SO:0001583	missense	9786						g.chr14:58932657G>A	AB011158	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			2012-12-06			ENSG00000100578	ENSG00000100578	ENSG00000100578	ENSG00000100578				19960	19960	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610178	610178						16702409	16702409	Standard	Standard	NM_014749	NM_014749		Approved	Talpid3	uc010trr.2	uc010trr.2	Q9BVV6	Q9BVV6	OTTHUMG00000171141	OTTHUMG00000171141	ENST00000556134.1:c.2119G>A	14.37:g.58932657G>A	ENSP00000452351:p.Asp707Asn		KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.D775N|KIAA0586_ENST00000261244.5_Missense_Mutation_p.D646N|KIAA0586_ENST00000556134.1_Missense_Mutation_p.D707N	p.D678N	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			16	2290	+			646		B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.2032G>A	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045182	0.75846	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.37	4.47	0.54385	5.37	4.47	0.54385	.	0.973374	0.08476	N	0.940335	T	0.49915	0.1585	L	0.27053	0.805	0.09310	N	0.999998	P;P;P;D;P;P	0.61697	0.907;0.907;0.948;0.99;0.907;0.948	B;B;B;P;B;B	0.51016	0.187;0.187;0.325;0.656;0.187;0.246	T	0.50448	-0.8827	10	0.66056	D	0.02	.	15.4404	0.75178	0.0:0.3258:0.6742:0.0	.	582;582;775;646;707;678	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	N	775;707;678;646;582	ENSP00000346359:D775N;ENSP00000452351:D707N;ENSP00000399427:D678N;ENSP00000261244:D646N	ENSP00000261244:D646N	D	+	1	0	0	KIAA0586	58002410	58002410	0.260000	0.24053	0.071000	0.20095	0.316000	0.28119	2.676000	0.46883	1.225000	0.43566	0.655000	0.94253	GAT		0.368	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1		12.925203	-10	-10	77	77	NM_014749		9	22.097437	22.097437	60	0.130435	0	0	0	1	0	9	60	0.130435	A	58932657	G	A	58932657	3	1	80	1	0	0	0	0	1	0	0	0	8186	1058	37	1	1990	1	KIAA0586	14	58932657	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	34290500	58932657	48416883	356	1871											
PLEK2	26499	broad.mit.edu	37	14	67862208	67862208	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:67862208G>A	ENST00000216446.4	-	3	440	c.300C>T	c.(298-300)acC>acT	p.T100T	PLEK2_ENST00000557388.1_5'Flank	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	100	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.T100T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GAATAGCCCCGGTGATCTCAA	0.597																																						ENST00000216446.4											1	Substitution - coding silent(1)	NS(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15						c.(298-300)acC>acT	pleckstrin 2						90	89	89					14																	67862208		2203	4300	6503	SO:0001819	synonymous_variant	26499			actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67862208G>A	AF228603	AF228603	CCDS9782.1	CCDS9782.1	14q23.3	2014-08-12			2014-08-12			ENSG00000100558	ENSG00000100558	ENSG00000100558	ENSG00000100558		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	19238	19238	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608007	608007						11911883, 17658464	11911883, 17658464	Standard	Standard	NM_016445	NM_016445		Approved		uc001xjh.1	uc001xjh.1	Q9NYT0	Q9NYT0	OTTHUMG00000171247	OTTHUMG00000171247	ENST00000216446.4:c.300C>T	14.37:g.67862208G>A				p.T100T	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	3	440	-			100	PH 1.	Q96JT0	Silent	SNP	ENST00000216446.4	37	c.300C>T	CCDS9782.1																																																																																									0.597	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2		-3.564476	-26	-26	87	87			5	11.283531	11.283531	71	0.065789	0	0	0	1	0	5	71	0.065789	A	67862208	G	A	67862208	2	1	80	1	0	0	0	0	0	0	0	1	12054	1103	39	1		1	PLEK2	14	67862208	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8929551	67862208	39487332	357	1872											
COX16	51241	broad.mit.edu	37	14	70809398	70809398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:70809398G>A	ENST00000389912.6	-	2	261	c.118C>T	c.(118-120)Cga>Tga	p.R40*	SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_Intron	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	40						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						GCATCATATCGGATTTGAGAA	0.328																																						ENST00000389912.6											0			large_intestine(1)|lung(2)	3						c.(118-120)Cga>Tga	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)						88	93	92					14																	70809398		2203	4300	6503	SO:0001587	stop_gained	51241						g.chr14:70809398G>A	AF151037	AF151037	CCDS9802.1	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983	ENSG00000133983	ENSG00000133983				20213	20213	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 14 open reading frame 112"	C14orf112	"chromosome 14 open reading frame 112"	C14orf112		11042152, 15596615	11042152, 15596615	Standard	Standard	NM_016468	NM_016468		Approved	HSPC203			Q9P0S2	Q9P0S2	OTTHUMG00000171238	OTTHUMG00000171238	ENST00000389912.6:c.118C>T	14.37:g.70809398G>A	ENSP00000374562:p.Arg40*		COX16_ENST00000557612.1_Intron|SYNJ2BP-COX16_ENST00000555276.1_RNA	p.R40*	NM_016468.6	NP_057552.1					2	261	-					A6NDT5|A8K3X8	Nonsense_Mutation	SNP	ENST00000389912.6	37	c.118C>T	CCDS9802.1	.	.	.	.	.	.	.	.	.	.	G	36	5.966321	0.97156	.	.	ENSG00000133983	ENST00000389912	.	.	.	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.48286	U	0.000183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.7716	14.5908	0.68362	0.0:0.0:1.0:0.0	.	.	.	.	X	40	.	ENSP00000374562:R40X	R	-	1	2	2	COX16	69879151	69879151	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.583000	0.60964	2.726000	0.93360	0.655000	0.94253	CGA		0.328	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412470.2		44.947511	-1	-1	65	65	NM_016468		14	45.010582	45.010582	17	0.451613	0	0	0	1	0	14	17	0.451613	A	70809398	G	A	70809398	4	1	80	1	0	0	0	0	0	1	0	0	3765	1124	39	1	214	1	COX16	14	70809398	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2947190	70809398	36540142	358	1873											
DPF3	8110	broad.mit.edu	37	14	73137976	73137976	+	Intron	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:73137976G>A	ENST00000556509.1	-	8	871				DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Silent_p.F314F|DPF3_ENST00000546183.1_Silent_p.F324F	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACGTGGAACCGAATAAGTCCT	0.547																																						ENST00000541685.1											0			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(940-942)ttC>ttT	D4, zinc and double PHD fingers, family 3						84	90	88					14																	73137976		2202	4297	6499	SO:0001627	intron_variant	8110			chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73137976G>A	U43919	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			2014-05-13			ENSG00000205683	ENSG00000205683	ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	"Zinc fingers, PHD-type"	17427	17427	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601672	601672						11845289, 8812431	11845289, 8812431	Standard	Standard	NM_012074	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	uc010ari.1	Q92784	Q92784			ENST00000556509.1:c.871+2971C>T	14.37:g.73137976G>A			DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Silent_p.F324F	p.F314F	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	9	954	-			142		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Silent	SNP	ENST00000556509.1	37	c.942C>T																																																																																										0.547	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2		6.580514	-15	-15	49	49			4	10.256916	10.256916	25	0.137931	0	0	0	1	0	4	25	0.137931	A	73137976	G	A	73137976	1	1	80	0	1	0	0	0	0	0	0	0	4718	1049	37	1		1	DPF3	14	73137976	Intron	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2328578	73137976	34211564	359	1874											
PTPN21	11099	broad.mit.edu	37	14	88945353	88945353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:88945353G>A	ENST00000556564.1	-	13	2706	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R808*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	808					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						CTCCGGGCTCGGTAGCGGCCT	0.662																																						ENST00000556564.1											0			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						c.(2422-2424)Cga>Tga	protein tyrosine phosphatase, non-receptor type 21						45	50	49					14																	88945353		2203	4300	6503	SO:0001587	stop_gained	11099				cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945353G>A	X79510	X79510	CCDS9884.1	CCDS9884.1	14q31	2011-06-09			2011-06-09				ENSG00000070778		ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	9651	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603271	603271						7519780	7519780	Standard	Standard	NM_007039	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	uc001xwv.4	Q16825	Q16825			ENST00000556564.1:c.2422C>T	14.37:g.88945353G>A	ENSP00000452414:p.Arg808*		PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R808*	p.R808*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2706	-			808			Nonsense_Mutation	SNP	ENST00000556564.1	37	c.2422C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	38	7.146204	0.98096	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	.	.	.	5.55	4.59	0.56863	5.55	4.59	0.56863	.	0.240363	0.41500	D	0.000872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0944	0.48134	0.0:0.0:0.591:0.409	.	.	.	.	X	808	.	ENSP00000330276:R808X	R	-	1	2	2	PTPN21	88015106	88015106	1.000000	0.71417	0.989000	0.46669	0.053000	0.15095	5.038000	0.64177	2.612000	0.88384	0.655000	0.94253	CGA		0.662	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		11.725805	-12	-12	71	71			6	16.192613	16.192613	33	0.153846	0	0	0	1	0	6	33	0.153846	A	88945353	G	A	88945353	4	1	80	1	0	0	0	0	0	1	0	0	12786	1124	39	1	1130	1	PTPN21	14	88945353	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15807377	88945353	18404187	360	1875											
TTC8	123016	broad.mit.edu	37	14	89337996	89337996	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:89337996C>T	ENST00000345383.5	+	11	1207	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	TTC8_ENST00000358622.5_Missense_Mutation_p.R187C|TTC8_ENST00000380656.2_Missense_Mutation_p.R385C|TTC8_ENST00000354441.6_Missense_Mutation_p.R120C|TTC8_ENST00000536576.1_Missense_Mutation_p.R146C|TTC8_ENST00000346301.4_Missense_Mutation_p.R345C|TTC8_ENST00000338104.6_Missense_Mutation_p.R401C	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	411					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTCATTTGAACGTGCCCTTTC	0.443																																						ENST00000338104.6											0			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1201-1203)Cgt>Tgt	tetratricopeptide repeat domain 8						142	130	134					14																	89337996		2203	4300	6503	SO:0001583	missense	123016			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89337996C>T	AK093891	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14			2013-02-14				ENSG00000165533		ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	"Tetratricopeptide (TTC) repeat domain containing"	20087	20087	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608132	608132						14520415, 20451172	14520415, 20451172	Standard	Standard	NM_144596	NM_144596		Approved	BBS8, RP51	uc001xxi.3	uc001xxi.3	Q8TAM2	Q8TAM2			ENST00000345383.5:c.1123C>T	14.37:g.89337996C>T	ENSP00000339486:p.Arg375Cys		TTC8_ENST00000380656.2_Missense_Mutation_p.R385C|TTC8_ENST00000354441.6_Missense_Mutation_p.R120C|TTC8_ENST00000536576.1_Missense_Mutation_p.R146C|TTC8_ENST00000345383.5_Missense_Mutation_p.R375C|TTC8_ENST00000346301.4_Missense_Mutation_p.R345C|TTC8_ENST00000358622.5_Missense_Mutation_p.R187C	p.R401C			Q8TAM2	TTC8_HUMAN			12	1253	+			411		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1201C>T	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.486612|4.486612	0.84854|0.84854	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000557580	T;T;T;T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3|.	5.73|5.73	5.73|5.73	0.89815|0.89815	5.73|5.73	5.73|5.73	0.89815|0.89815	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86493|0.86493	0.5946|0.5946	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.996;0.999;0.998;0.988;0.988|.	D|D	0.88431|0.88431	0.3035|0.3035	10|5	0.87932|.	D|.	0|.	-12.0124|-12.0124	19.8984|19.8984	0.96975|0.96975	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	120;146;411;355;385|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	C|M	375;146;345;401;120;385;187|173	ENSP00000339486:R375C;ENSP00000445067:R146C;ENSP00000298324:R345C;ENSP00000337653:R401C;ENSP00000346427:R120C;ENSP00000370031:R385C;ENSP00000351439:R187C|.	ENSP00000337653:R401C|.	R|T	+|+	1|2	0|0	0|0	TTC8|TTC8	88407749|88407749	88407749|88407749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.560000|3.560000	0.53763|0.53763	2.712000|2.712000	0.92718|0.92718	0.555000|0.555000	0.69702|0.69702	CGT|ACG		0.443	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1		109.483363	0	0	114	114	NM_144596		36	110.118802	110.118802	52	0.409091	0	0	0	1	0	36	52	0.409091	T	89337996	C	T	89337996	3	4	80	1	0	0	0	0	1	0	0	0	16711	536	19	1	1199	1	TTC8	14	89337996	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	392643	89337996	18011544	361	1876											
SERPINA3	12	broad.mit.edu	37	14	95080899	95080899	+	Nonsense_Mutation	SNP	C	C	T	rs373526796		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:95080899C>T	ENST00000467132.1	+	2	1269	c.121C>T	c.(121-123)Cga>Tga	p.R41*	SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.R41*|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.R41*			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	41					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACCAAGACCGAGGGACACA	0.582																																						ENST00000467132.1											0			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(121-123)Cga>Tga	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	117	116	116		121	-3	0	14		116	0,8600		0,0,4300	no	stop-gained	SERPINA3	NM_001085.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		41/424	95080899	1,13005	2203	4300	6503	SO:0001587	stop_gained	12			acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95080899C>T	K01500	K01500	CCDS32150.1	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136	ENSG00000196136	ENSG00000196136		"Serine (or cysteine) peptidase inhibitors"	"Serine (or cysteine) peptidase inhibitors"	16	16	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			107280	107280	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT	"alpha-1-antichymotrypsin", "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"	AACT		3260956, 24172014	3260956, 24172014	Standard	Standard	NM_001085	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	uc001ydp.3	P01011	P01011	OTTHUMG00000029851	OTTHUMG00000029851	ENST00000467132.1:c.121C>T	14.37:g.95080899C>T	ENSP00000450540:p.Arg41*		RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.R41*|SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.R41*	p.R41*			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	2	1269	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	41		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Nonsense_Mutation	SNP	ENST00000467132.1	37	c.121C>T	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680838	0.47886	2.27E-4	0.0	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	.	.	.	4.42	-3.03	0.05429	4.42	-3.03	0.05429	.	3.988340	0.01188	N	0.007251	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2621	0.02004	0.3193:0.2834:0.2676:0.1297	.	.	.	.	X	66;41;41;41;41;41	.	ENSP00000369712:R41X	R	+	1	2	2	SERPINA3	94150652	94150652	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.024000	0.12435	-0.120000	0.11809	-0.397000	0.06425	CGA		0.582	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3		55.842433	6	6	87	87	NM_001085		18	56.235551	56.235551	27	0.4	0	0	0	1	0	18	27	0.4	T	95080899	C	T	95080899	4	4	80	1	0	0	0	0	0	1	0	0	14090	644	23	1	123	1	SERPINA3	14	95080899	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5742903	95080899	12268641	362	1877											
WDR25	79446	broad.mit.edu	37	14	100992227	100992227	+	Silent	SNP	G	G	A	rs143825676		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:100992227G>A	ENST00000335290.6	+	5	1348	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	WDR25_ENST00000402312.3_Silent_p.A374A|WDR25_ENST00000554998.1_Silent_p.A374A|WDR25_ENST00000542471.2_Silent_p.A117A|WDR25_ENST00000557502.1_3'UTR	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	374										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GCTACAAGGCGACCATCCAGC	0.622													g|||	1	0.000199681	0	0	5008	,	,		18041	0		0.001	False		,,,				2504	0					ENST00000335290.6											0			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(1120-1122)gcG>gcA	WD repeat domain 25		,	1,4405	2.1+/-5.4	0,1,2202	92	75	81		1122,1122	-9.8	0.2	14	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WDR25	NM_001161476.1,NM_024515.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	374/545,374/545	100992227	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79446						g.chr14:100992227G>A	BC007953	BC007953	CCDS32157.1	CCDS32157.1	14q32.32	2013-01-09			2013-01-09				ENSG00000176473		ENSG00000176473		"WD repeat domain containing"	"WD repeat domain containing"	21064	21064	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 14 open reading frame 67"	C14orf67	"chromosome 14 open reading frame 67"	C14orf67		15587985	15587985	Standard	Standard	NM_001161476	NM_001161476		Approved	MGC4645	uc001yhn.3	uc001yhn.3	Q64LD2	Q64LD2			ENST00000335290.6:c.1122G>A	14.37:g.100992227G>A			WDR25_ENST00000554998.1_Silent_p.A374A|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.A374A|WDR25_ENST00000542471.2_Silent_p.A117A	p.A374A	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			5	1348	+		Melanoma(154;0.212)	374		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	c.1122G>A	CCDS32157.1																																																																																									0.622	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1		7.483996	-11	-11	57	57	NM_024515		4	10.235947	10.235947	21	0.16	0	0	0	1	0	4	21	0.16	A	100992227	G	A	100992227	2	1	80	1	0	0	0	0	0	0	0	1	17279	1045	37	1		1	WDR25	14	100992227	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5911328	100992227	6357313	363	1878											
TRAF3	7187	broad.mit.edu	37	14	103371684	103371684	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:103371684G>A	ENST00000560371.1	+	11	1487	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	TRAF3_ENST00000539721.1_Missense_Mutation_p.D341N|TRAF3_ENST00000347662.4_Missense_Mutation_p.D399N|TRAF3_ENST00000392745.2_Missense_Mutation_p.D424N|TRAF3_ENST00000351691.5_Missense_Mutation_p.D399N	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	424	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|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)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GAAGATTCGCGACTACAAGCG	0.567																																						ENST00000560371.1											0			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(1270-1272)Gac>Aac	TNF receptor-associated factor 3						108	99	102					14																	103371684		2203	4300	6503	SO:0001583	missense	7187			apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103371684G>A	U21092	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17			2014-09-17				ENSG00000131323		ENSG00000131323				12033	12033	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601896	601896						7530216, 7859281	7530216, 7859281	Standard	Standard	NM_145725	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	uc001ymd.2	Q13114	Q13114			ENST00000560371.1:c.1270G>A	14.37:g.103371684G>A	ENSP00000454207:p.Asp424Asn		TRAF3_ENST00000392745.2_Missense_Mutation_p.D424N|TRAF3_ENST00000351691.5_Missense_Mutation_p.D399N|TRAF3_ENST00000347662.4_Missense_Mutation_p.D399N|TRAF3_ENST00000539721.1_Missense_Mutation_p.D341N	p.D424N	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	11	1487	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	424	MATH.	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	c.1270G>A	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242048	0.79912	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T	0.36157	1.27;1.27;1.27	5.45	5.45	0.79879	5.45	5.45	0.79879	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	N	0.21282	0.65	0.80722	D	1	D;D;D	0.71674	0.998;0.976;0.997	P;P;P	0.60286	0.871;0.5;0.872	T	0.15578	-1.0432	10	0.23891	T	0.37	-32.0079	19.3058	0.94163	0.0:0.0:1.0:0.0	.	341;399;424	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	N	424;399;424;341	ENSP00000376500:D424N;ENSP00000328003:D399N;ENSP00000445998:D341N	ENSP00000328003:D399N	D	+	1	0	0	TRAF3	102441437	102441437	1.000000	0.71417	0.259000	0.24435	0.579000	0.36224	9.869000	0.99810	2.558000	0.86282	0.655000	0.94253	GAC		0.567	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1		5.111844	4	4	57	57	NM_145725		3	7.460747	7.460747	17	0.15	0	0	0	1	0	3	17	0.15	A	103371684	G	A	103371684	3	1	80	1	0	0	0	0	1	0	0	0	16436	1058	37	1	1308	1	TRAF3	14	103371684	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2379457	103371684	3977856	364	1879											
JAG2	3714	broad.mit.edu	37	14	105618598	105618598	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:105618598G>A	ENST00000331782.3	-	6	1222	c.819C>T	c.(817-819)tgC>tgT	p.C273C	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.C273C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	273	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CACACTCATCGCAGAACCTCC	0.647																																						ENST00000331782.3											0			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(817-819)tgC>tgT	jagged 2						53	43	46					14																	105618598		2201	4300	6501	SO:0001819	synonymous_variant	3714			auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105618598G>A	AF020201	AF020201	CCDS9998.1, CCDS9999.1	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			2008-08-01			ENSG00000184916	ENSG00000184916	ENSG00000184916	ENSG00000184916				6189	6189	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602570	602570						9315665, 10662552	9315665, 10662552	Standard	Standard	NM_002226	NM_002226		Approved		uc001yqg.4	uc001yqg.4	Q9Y219	Q9Y219	OTTHUMG00000140172	OTTHUMG00000140172	ENST00000331782.3:c.819C>T	14.37:g.105618598G>A			RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.C273C	p.C273C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	6	1222	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	273	EGF-like 1.	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.819C>T	CCDS9998.1																																																																																									0.647	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		12.400683	7	7	29	29			4	12.431811	12.431811	3	0.571429	0	0	0	1	0	4	3	0.571429	A	105618598	G	A	105618598	2	1	80	1	0	0	0	0	0	0	0	1	7935	1079	38	1		1	JAG2	14	105618598	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2246914	105618598	1730942	365	1880											
APBA2	321	broad.mit.edu	37	15	29406154	29406154	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:29406154G>A	ENST00000558402.1	+	15	2712	c.2113G>A	c.(2113-2115)Ggg>Agg	p.G705R	APBA2_ENST00000558330.1_Missense_Mutation_p.G693R|APBA2_ENST00000411764.1_Missense_Mutation_p.G693R|APBA2_ENST00000561069.1_Missense_Mutation_p.G705R|APBA2_ENST00000558259.1_Missense_Mutation_p.G705R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	705	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGAGATCAACGGGCAGAGCGT	0.607																																						ENST00000558402.1											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(2113-2115)Ggg>Agg	amyloid beta (A4) precursor protein-binding, family A, member 2						129	96	107					15																	29406154		2203	4300	6503	SO:0001583	missense	321			nervous system development|protein transport		protein binding	g.chr15:29406154G>A	AB014719	AB014719	CCDS10022.1, CCDS45197.1	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053	ENSG00000034053	ENSG00000034053				579	579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602712	602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	8955346	Standard	Standard	NM_005503	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	uc001zck.3	Q99767	Q99767	OTTHUMG00000129255	OTTHUMG00000129255	ENST00000558402.1:c.2113G>A	15.37:g.29406154G>A	ENSP00000453293:p.Gly705Arg		APBA2_ENST00000558259.1_Missense_Mutation_p.G705R|APBA2_ENST00000558330.1_Missense_Mutation_p.G693R|APBA2_ENST00000561069.1_Missense_Mutation_p.G705R|APBA2_ENST00000411764.1_Missense_Mutation_p.G693R	p.G705R			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	15	2712	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	705	PDZ 2.	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.2113G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944749	0.92593	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.42513	0.97	4.36	4.36	0.52297	4.36	4.36	0.52297	PDZ/DHR/GLGF (4);	0.178298	0.36268	N	0.002691	T	0.72211	0.3432	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.976	T	0.81263	-0.1012	10	0.87932	D	0	.	15.8783	0.79182	0.0:0.0:1.0:0.0	.	693;705	E9PGI4;Q99767	.;APBA2_HUMAN	R	693;705	ENSP00000409312:G693R	ENSP00000219865:G705R	G	+	1	0	0	APBA2	27193446	27193446	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.620000	0.98373	1.959000	0.56917	0.462000	0.41574	GGG		0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		-0.873159	18	18	63	63	NM_005503		3	6.775436	6.775436	38	0.073171	0	0	0	1	0	3	38	0.073171	A	29406154	G	A	29406154	3	1	80	1	0	0	0	0	1	0	0	0	757	1116	39	1	2155	1	APBA2	15	29406154	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		29406154	73125238	366	1881											
NOP10	55505	broad.mit.edu	37	15	34634230	34634230	+	Missense_Mutation	SNP	C	C	T	rs201604296		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:34634230C>T	ENST00000328848.4	-	2	237	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	NUTM1_ENST00000537011.1_5'Flank|NOP10_ENST00000557912.1_Missense_Mutation_p.E26K|NUTM1_ENST00000438749.3_5'Flank	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	45					pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA RNP complex (GO:0072588)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	snoRNA binding (GO:0030515)			lung(1)|ovary(1)	2						GATGGTGATTCGGTGTCGAGA	0.527																																						ENST00000328848.4											0			lung(1)|ovary(1)	2						c.(133-135)cGa>cAa	NOP10 ribonucleoprotein						175	133	147					15																	34634230		2201	4298	6499	SO:0001583	missense	55505			pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr15:34634230C>T	AB043103	AB043103	CCDS10037.1	CCDS10037.1	15q14-q15	2014-09-17	2012-12-10	2008-10-13	2014-09-17	2012-12-10	2008-10-13	ENSG00000182117	ENSG00000182117	ENSG00000182117	ENSG00000182117				14378	14378	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"homolog of yeast Nop10p"	"homolog of yeast Nop10p"	606471	606471	"nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)", "NOP10 ribonucleoprotein homolog (yeast)"	NOLA3	"nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)", "NOP10 ribonucleoprotein homolog (yeast)"	NOLA3		11074001, 9843512	11074001, 9843512	Standard	Standard	NM_018648	NM_018648		Approved	NOP10P, MGC70651	uc001zie.1	uc001zie.1	Q9NPE3	Q9NPE3	OTTHUMG00000129440	OTTHUMG00000129440	ENST00000328848.4:c.134G>A	15.37:g.34634230C>T	ENSP00000332198:p.Arg45Gln		NOP10_ENST00000557912.1_Missense_Mutation_p.E26K	p.R45Q	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN			2	237	-			45			Missense_Mutation	SNP	ENST00000328848.4	37	c.134G>A	CCDS10037.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611071	0.66558	.	.	ENSG00000182117	ENST00000328848	D	0.97378	-4.36	5.66	4.73	0.59995	5.66	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	.	.	.	0.23210	N	0.998114	D	0.55385	0.971	P	0.48795	0.59	D	0.92409	0.5936	9	0.87932	D	0	.	15.4066	0.74884	0.0:0.86:0.14:0.0	.	45	Q9NPE3	NOP10_HUMAN	Q	45	ENSP00000332198:R45Q	ENSP00000332198:R45Q	R	-	2	0	0	NOP10	32421522	32421522	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.606000	0.74159	1.351000	0.45789	0.655000	0.94253	CGA		0.527	NOP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251602.2		38.799488	-6	-6	42	42	NM_018648		12	38.808141	38.808141	13	0.48	0	0	0	1	0	12	13	0.48	T	34634230	C	T	34634230	3	4	80	1	0	0	0	0	1	0	0	0	10535	884	31	1	64	1	NOP10	15	34634230	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5228076	34634230	67897162	367	1882											
IVD	3712	broad.mit.edu	37	15	40702919	40702919	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:40702919G>A	ENST00000249760.2	+	4	722	c.379G>A	c.(379-381)Ggt>Agt	p.G127S	IVD_ENST00000479013.2_Missense_Mutation_p.G100S|IVD_ENST00000487418.2_Missense_Mutation_p.G130S|IVD_ENST00000490194.1_3'UTR	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	127					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GCTCAGTTACGGTGCCCACTC	0.547																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2											0			kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.(379-381)Ggt>Agt	isovaleryl-CoA dehydrogenase						80	67	71					15																	40702919		2203	4300	6503	SO:0001583	missense	3712			leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40702919G>A	AF038317	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	ENSG00000128928	ENSG00000128928	1.3.99.10			6186	6186	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607036	607036	"isovaleryl Coenzyme A dehydrogenase", "isovaleryl CoA dehydrogenase"		"isovaleryl Coenzyme A dehydrogenase", "isovaleryl CoA dehydrogenase"			2063866	2063866	Standard	Standard	NM_002225	NM_002225		Approved	ACAD2	uc001zls.3	uc001zls.3	P26440	P26440	OTTHUMG00000129984	OTTHUMG00000129984	ENST00000249760.2:c.379G>A	15.37:g.40702919G>A	ENSP00000249760:p.Gly127Ser		IVD_ENST00000479013.2_Missense_Mutation_p.G100S|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.G130S	p.G127S	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	4	722	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	127		B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37	c.379G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.389874	0.95988	.	.	ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418	D;D;D	0.99704	-6.46;-6.46;-6.46	5.17	5.17	0.71159	5.17	5.17	0.71159	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.045090	0.85682	D	0.000000	D	0.99462	0.9809	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.98808	1.0742	10	0.52906	T	0.07	.	18.8538	0.92242	0.0:0.0:1.0:0.0	.	127;100	P26440;B3KVI7	IVD_HUMAN;.	S	127;100;130	ENSP00000249760:G127S;ENSP00000417990:G100S;ENSP00000418397:G130S	ENSP00000249760:G127S	G	+	1	0	0	IVD	38490211	38490211	1.000000	0.71417	0.253000	0.24343	0.909000	0.53808	9.623000	0.98386	2.691000	0.91804	0.655000	0.94253	GGT		0.547	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			37.798110	-2	-2	50	50			12	37.831503	37.831503	14	0.461538	0	0	0	1	0	12	14	0.461538	A	40702919	G	A	40702919	3	1	80	1	0	0	0	0	1	0	0	0	7928	1116	39	1	402	1	IVD	15	40702919	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6068689	40702919	61828473	368	1883											
TLN2	83660	broad.mit.edu	37	15	63029131	63029131	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:63029131G>A	ENST00000561311.1	+	28	3643	c.3413G>A	c.(3412-3414)cGt>cAt	p.R1138H	TLN2_ENST00000306829.6_Missense_Mutation_p.R1138H|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1138	Ala-rich.				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						CAGGCCGCCCGTGGAGTGGCT	0.582																																						ENST00000561311.1											0			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						c.(3412-3414)cGt>cAt	talin 2						32	36	34					15																	63029131		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.chr15:63029131G>A	AB002318	AB002318	CCDS32261.1	CCDS32261.1	15q15-q21	2008-07-03			2008-07-03			ENSG00000171914	ENSG00000171914	ENSG00000171914	ENSG00000171914				15447	15447	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607349	607349						9205841, 11527381	9205841, 11527381	Standard	Standard	NM_015059	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	uc002alb.4	Q9Y4G6	Q9Y4G6	OTTHUMG00000133679	OTTHUMG00000133679	ENST00000561311.1:c.3413G>A	15.37:g.63029131G>A	ENSP00000453508:p.Arg1138His		TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.R1138H	p.R1138H			Q9Y4G6	TLN2_HUMAN			28	3643	+			1138	Ala-rich.	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3413G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148716	0.78001	.	.	ENSG00000171914	ENST00000306829	T	0.15139	2.45	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	M	0.66378	2.025	0.58432	D	0.999999	D	0.71674	0.998	P	0.62885	0.908	T	0.05321	-1.0892	10	0.40728	T	0.16	-14.792	19.2437	0.93893	0.0:0.0:1.0:0.0	.	1138	Q9Y4G6	TLN2_HUMAN	H	1138	ENSP00000303476:R1138H	ENSP00000303476:R1138H	R	+	2	0	0	TLN2	60816423	60816423	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	8.029000	0.88807	2.545000	0.85829	0.591000	0.81541	CGT		0.582	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		66.205498	-3	-3	54	54			21	66.433595	66.433595	15	0.583333	0	0	0	1	0	21	15	0.583333	A	63029131	G	A	63029131	3	1	80	1	0	0	0	0	1	0	0	0	15945	1145	40	1	3515	1	TLN2	15	63029131	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22326212	63029131	39502261	369	1884											
IGDCC3	9543	broad.mit.edu	37	15	65622132	65622132	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:65622132G>A	ENST00000327987.4	-	12	2180	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	643					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGGATGCCGATGACGATGC	0.637																																						ENST00000327987.4											0			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1927-1929)atC>atT	immunoglobulin superfamily, DCC subclass, member 3						126	72	90					15																	65622132		2201	4299	6500	SO:0001819	synonymous_variant	9543						g.chr15:65622132G>A	AF063936	AF063936	CCDS10205.1	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	9700	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604184	604184	"putative neuronal cell adhesion molecule"	PUNC	"putative neuronal cell adhesion molecule"	PUNC		9922388	9922388	Standard	Standard	NM_004884	NM_004884		Approved	HsT18880	uc002aos.2	uc002aos.2	Q8IVU1	Q8IVU1	OTTHUMG00000133137	OTTHUMG00000133137	ENST00000327987.4:c.1929C>T	15.37:g.65622132G>A				p.I643I	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			12	2180	-			643		O95215	Silent	SNP	ENST00000327987.4	37	c.1929C>T	CCDS10205.1																																																																																									0.637	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1		28.472851	-19	-19	33	33	NM_004884		9	28.566046	28.566046	12	0.428571	0	0	0	1	0	9	12	0.428571	A	65622132	G	A	65622132	2	1	80	1	0	0	0	0	0	0	0	1	7568	1048	37	1		1	IGDCC3	15	65622132	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2593001	65622132	36909260	370	1885											
LBXCOR1	390598	broad.mit.edu	37	15	68118635	68118635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:68118635C>T	ENST00000380035.2	+	2	527	c.469C>T	c.(469-471)Cga>Tga	p.R157*	SKOR1_ENST00000341418.5_Nonsense_Mutation_p.R343*|SKOR1_ENST00000389002.1_Nonsense_Mutation_p.R148*|SKOR1_ENST00000554054.1_Nonsense_Mutation_p.R129*|SKOR1_ENST00000554240.1_Nonsense_Mutation_p.R118*			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	157					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GATCACTAAGCGAGAGGCCGA	0.657																																						ENST00000380035.2											0			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(469-471)Cga>Tga	SKI family transcriptional corepressor 1						64	61	62					15																	68118635		2200	4298	6498	SO:0001587	stop_gained	390598			negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118635C>T			CCDS58374.1	CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	"SKI transcriptional corepressors"	21326	21326	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	15528197	Standard	Standard	NM_001258024	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	uc031qsn.1	P84550	P84550			ENST00000380035.2:c.469C>T	15.37:g.68118635C>T	ENSP00000369374:p.Arg157*		SKOR1_ENST00000341418.5_Nonsense_Mutation_p.R343*|SKOR1_ENST00000554240.1_Nonsense_Mutation_p.R118*|SKOR1_ENST00000389002.1_Nonsense_Mutation_p.R148*|SKOR1_ENST00000554054.1_Nonsense_Mutation_p.R129*	p.R157*			P84550	SKOR1_HUMAN			2	527	+			157		A6NIP4|A6NJY0|Q2VWA5	Nonsense_Mutation	SNP	ENST00000380035.2	37	c.469C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.885578	0.97068	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	.	.	.	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.067585	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4141	16.753	0.85492	0.0:1.0:0.0:0.0	.	.	.	.	X	343;118;129;157;148	.	ENSP00000343200:R343X	R	+	1	2	2	SKOR1	65905689	65905689	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	3.856000	0.55964	2.292000	0.77174	0.561000	0.74099	CGA		0.657	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1		-2.311038	3	3	64	64	NM_001031807		3	6.447592	6.447592	42	0.066667	0	0	0	1	0	3	42	0.066667	T	68118635	C	T	68118635	4	4	80	1	0	0	0	0	0	1	0	0	8655	760	27	1	448	1	LBXCOR1	15	68118635	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2496503	68118635	34412757	371	1886											
TLE3	7090	broad.mit.edu	37	15	70347577	70347577	+	Silent	SNP	G	G	A	rs201049660	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:70347577G>A	ENST00000558939.1	-	15	2775	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	TLE3_ENST00000451782.2_Silent_p.D463D|TLE3_ENST00000557907.1_Silent_p.D458D|TLE3_ENST00000317509.8_Silent_p.D454D|TLE3_ENST00000559048.1_Silent_p.D466D|TLE3_ENST00000558201.1_Silent_p.D472D|TLE3_ENST00000557997.1_Silent_p.D458D|TLE3_ENST00000539550.1_Silent_p.D393D|TLE3_ENST00000560939.1_Silent_p.D468D|TLE3_ENST00000440567.3_Silent_p.D456D|TLE3_ENST00000560589.1_Silent_p.D410D|TLE3_ENST00000559191.1_Silent_p.D47D|TLE3_ENST00000442299.2_Silent_p.D458D|TLE3_ENST00000558379.1_Silent_p.D461D|TLE3_ENST00000559929.1_Silent_p.D476D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	466					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D466D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGCCAGGGCGTCGTGGGGGA	0.647													G|||	4	0.000798722	0	0	5008	,	,		18116	0.004		0	False		,,,				2504	0					ENST00000558939.1											1	Substitution - coding silent(1)	endometrium(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1396-1398)gaC>gaT	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)						54	62	59					15																	70347577		2199	4298	6497	SO:0001819	synonymous_variant	7090			organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70347577G>A	M99438	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07		2014-03-07	2014-03-07			ENSG00000140332		ENSG00000140332		"WD repeat domain containing"	"WD repeat domain containing"	11839	11839	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600190	600190	"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"		"transducin-like enhancer of split 3, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"			8365415	8365415	Standard	Standard	XM_005254623	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	uc002asm.2	Q04726	Q04726			ENST00000558939.1:c.1398C>T	15.37:g.70347577G>A			TLE3_ENST00000558201.1_Silent_p.D472D|TLE3_ENST00000559929.1_Silent_p.D476D|TLE3_ENST00000559048.1_Silent_p.D466D|TLE3_ENST00000539550.1_Silent_p.D393D|TLE3_ENST00000451782.2_Silent_p.D463D|TLE3_ENST00000559191.1_Silent_p.D47D|TLE3_ENST00000560589.1_Silent_p.D410D|TLE3_ENST00000557997.1_Silent_p.D458D|TLE3_ENST00000317509.8_Silent_p.D454D|TLE3_ENST00000560939.1_Silent_p.D468D|TLE3_ENST00000442299.2_Silent_p.D458D|TLE3_ENST00000440567.3_Silent_p.D456D|TLE3_ENST00000558379.1_Silent_p.D461D|TLE3_ENST00000557907.1_Silent_p.D458D	p.D466D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN			15	2775	-			466		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Silent	SNP	ENST00000558939.1	37	c.1398C>T	CCDS45293.1																																																																																									0.647	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1		68.097949	-7	-7	78	78	NM_005078		23	68.139413	68.139413	26	0.469388	0	0	0	1	0	23	26	0.469388	A	70347577	G	A	70347577	2	1	80	1	0	0	0	0	0	0	0	1	15937	1136	40	1		1	TLE3	15	70347577	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2228942	70347577	32183815	372	1887											
THSD4	79875	broad.mit.edu	37	15	71952898	71952898	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:71952898C>T	ENST00000355327.3	+	8	1316	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Silent_p.S34S|THSD4_ENST00000261862.6_Silent_p.S394S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	394					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTTAGGCTCCGACAAAGTCG	0.507																																						ENST00000355327.3											0			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1180-1182)tcC>tcT	thrombospondin, type I, domain containing 4						178	179	179					15																	71952898		1975	4171	6146	SO:0001819	synonymous_variant	79875				proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71952898C>T	AK023772	AK023772	CCDS10238.2, CCDS66817.1	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			2009-11-09			ENSG00000187720	ENSG00000187720	ENSG00000187720	ENSG00000187720				25835	25835	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614476	614476						19734141	19734141	Standard	Standard	NM_001286429	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	uc002atb.1	Q6ZMP0	Q6ZMP0	OTTHUMG00000133389	OTTHUMG00000133389	ENST00000355327.3:c.1182C>T	15.37:g.71952898C>T			THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.S394S|THSD4_ENST00000357769.4_Silent_p.S34S	p.S394S			Q6ZMP0	THSD4_HUMAN			8	1316	+			394		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	c.1182C>T	CCDS10238.2																																																																																									0.507	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		41.956780	-27	-27	201	201	NM_024817		22	59.253657	59.253657	125	0.14966	0	0	0	1	0	22	125	0.14966	T	71952898	C	T	71952898	2	4	80	1	0	0	0	0	0	0	0	1	15875	639	23	1		1	THSD4	15	71952898	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1605321	71952898	30578494	373	1888											
HCN4	10021	broad.mit.edu	37	15	73615896	73615896	+	Silent	SNP	C	C	T	rs372747050		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:73615896C>T	ENST00000261917.3	-	8	3531	c.2538G>A	c.(2536-2538)ccG>ccA	p.P846P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	846					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCACCTGGGACGGGCTGCTGG	0.667																																						ENST00000261917.3											0			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2536-2538)ccG>ccA	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	C		1,4389	2.1+/-5.4	0,1,2194	52	55	54		2538	-7.2	0.4	15		54	0,8582		0,0,4291	no	coding-synonymous	HCN4	NM_005477.2		0,1,6485	TT,TC,CC		0.0,0.0228,0.0077		846/1204	73615896	1,12971	2195	4291	6486	SO:0001819	synonymous_variant	10021			blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615896C>T	AJ132429	AJ132429	CCDS10248.1	CCDS10248.1	15q24.1	2011-07-05			2011-07-05			ENSG00000138622	ENSG00000138622	ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	16882	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605206	605206						10228147, 10430953, 16382102	10228147, 10430953, 16382102	Standard	Standard	NM_005477	NM_005477		Approved		uc002avp.3	uc002avp.3	Q9Y3Q4	Q9Y3Q4	OTTHUMG00000137563	OTTHUMG00000137563	ENST00000261917.3:c.2538G>A	15.37:g.73615896C>T				p.P846P	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3531	-			846		Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.2538G>A	CCDS10248.1																																																																																									0.667	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2		63.435567	-14	-14	78	78	NM_005477		22	64.176871	64.176871	36	0.37931	0	0	0	1	0	22	36	0.37931	T	73615896	C	T	73615896	2	4	80	1	0	0	0	0	0	0	0	1	6999	523	19	1		1	HCN4	15	73615896	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1662998	73615896	28915496	374	1889											
SCAMP5	192683	broad.mit.edu	37	15	75310786	75310786	+	Silent	SNP	C	C	T	rs555923708	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:75310786C>T	ENST00000361900.6	+	7	630	c.423C>T	c.(421-423)ttC>ttT	p.F141F	SCAMP5_ENST00000568081.1_Silent_p.F74F|SCAMP5_ENST00000425597.3_Silent_p.F141F|SCAMP5_ENST00000562212.1_Silent_p.F149F|SCAMP5_ENST00000545456.1_Silent_p.F70F	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	141					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TCTCCTTCTTCGGAACGAACA	0.587													C|||	2	0.000399361	0	0	5008	,	,		18008	0		0	False		,,,				2504	0.002					ENST00000361900.6											0			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(421-423)ttC>ttT	secretory carrier membrane protein 5						148	138	141					15																	75310786		2013	4177	6190	SO:0001819	synonymous_variant	192683			exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75310786C>T	AL833230	AL833230	CCDS45306.1	CCDS45306.1	15q24.2	2014-05-20			2014-05-20			ENSG00000198794	ENSG00000198794	ENSG00000198794	ENSG00000198794		"Secretory carrier membrane proteins"	"Secretory carrier membrane proteins"	30386	30386	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613766	613766						12477932	12477932	Standard	Standard	NM_001178111	NM_001178111		Approved	MGC24969	uc002azk.2	uc002azk.2	Q8TAC9	Q8TAC9	OTTHUMG00000172704	OTTHUMG00000172704	ENST00000361900.6:c.423C>T	15.37:g.75310786C>T			SCAMP5_ENST00000562212.1_Silent_p.F149F|SCAMP5_ENST00000425597.3_Silent_p.F141F|SCAMP5_ENST00000568081.1_Silent_p.F74F|SCAMP5_ENST00000545456.1_Silent_p.F70F	p.F141F	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN			7	630	+			141		B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	ENST00000361900.6	37	c.423C>T	CCDS45306.1																																																																																									0.587	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2		55.965165	-38	-38	167	167	NM_138967		26	69.139667	69.139667	115	0.184397	0	0	0	1	0	26	115	0.184397	T	75310786	C	T	75310786	2	4	80	1	0	0	0	0	0	0	0	1	13874	883	31	1		1	SCAMP5	15	75310786	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1694890	75310786	27220606	375	1890											
AP3B2	8120	broad.mit.edu	37	15	83346476	83346476	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:83346476C>T	ENST00000261722.3	-	12	1532	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	AP3B2_ENST00000535348.1_Missense_Mutation_p.R410Q|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R442Q	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	442					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTCACGGACTCGGCCGATGTT	0.532																																						ENST00000261722.3											0			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1324-1326)cGa>cAa	adaptor-related protein complex 3, beta 2 subunit						49	50	50					15																	83346476		2148	4259	6407	SO:0001583	missense	8120			endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83346476C>T	U37673	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			2008-07-07			ENSG00000103723	ENSG00000103723	ENSG00000103723	ENSG00000103723				567	567	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602166	602166						7671305, 1851215	7671305, 1851215	Standard	Standard	NM_004644	NM_004644		Approved	NAPTB	uc010uoh.2	uc010uoh.2	Q13367	Q13367	OTTHUMG00000168009	OTTHUMG00000168009	ENST00000261722.3:c.1325G>A	15.37:g.83346476C>T	ENSP00000261722:p.Arg442Gln		AP3B2_ENST00000535359.1_Missense_Mutation_p.R442Q|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R410Q	p.R442Q	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		12	1532	-			442		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1325G>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351296	0.61183	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.12255	2.7;2.7;2.7	4.98	4.05	0.47172	4.98	4.05	0.47172	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.125658	0.51477	D	0.000082	T	0.04003	0.0112	N	0.02685	-0.53	0.80722	D	1	B;B;B	0.32507	0.373;0.064;0.032	B;B;B	0.23150	0.044;0.009;0.009	T	0.42464	-0.9450	10	0.33141	T	0.24	-4.6877	3.3267	0.07070	0.2273:0.5763:0.0:0.1964	.	410;442;442	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	Q	442;410;442	ENSP00000261722:R442Q;ENSP00000438721:R410Q;ENSP00000440984:R442Q	ENSP00000261722:R442Q	R	-	2	0	0	AP3B2	81143531	81143531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.969000	0.70422	1.298000	0.44778	0.655000	0.94253	CGA		0.532	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		40.606596	-7	-7	10	10			12	41.25145	41.25145	5	0.705882	0	0	0	1	0	12	5	0.705882	T	83346476	C	T	83346476	3	4	80	1	0	0	0	0	1	0	0	0	745	884	31	1	1983	1	AP3B2	15	83346476	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8035690	83346476	19184916	376	1891											
AKAP13	11214	broad.mit.edu	37	15	86124462	86124462	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:86124462G>A	ENST00000394518.2	+	7	3258	c.3163G>A	c.(3163-3165)Gat>Aat	p.D1055N	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.D1055N	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1055					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGATGGGTCCGATGCTCTTAA	0.542																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2											0			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3163-3165)Gat>Aat	A kinase (PRKA) anchor protein 13						76	72	73					15																	86124462		2202	4299	6501	SO:0001583	missense	11214			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124462G>A	M90360	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13		2013-01-10	2002-06-13			ENSG00000170776		ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	371	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604686	604686	"lymphoid blast crisis oncogene"	LBC	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	9627117, 1860836	Standard	Standard	NM_007200	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	uc002blu.2	Q12802	Q12802			ENST00000394518.2:c.3163G>A	15.37:g.86124462G>A	ENSP00000378026:p.Asp1055Asn		AKAP13_ENST00000361243.2_Missense_Mutation_p.D1055N	p.D1055N	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3258	+			1055		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3163G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066043	0.36470	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.12774	2.65;2.65	4.57	0.077	0.14406	4.57	0.077	0.14406	.	.	.	.	.	T	0.06826	0.0174	N	0.08118	0	0.09310	N	0.999996	B;B	0.15141	0.012;0.006	B;B	0.04013	0.0;0.001	T	0.34527	-0.9825	9	0.66056	D	0.02	.	7.8278	0.29326	0.0952:0.4783:0.4265:0.0	.	1055;1055	Q12802;Q12802-2	AKP13_HUMAN;.	N	1055;1055;1054;1054	ENSP00000354718:D1055N;ENSP00000378026:D1055N	ENSP00000354718:D1055N	D	+	1	0	0	AKAP13	83925466	83925466	0.004000	0.15560	0.019000	0.16419	0.097000	0.18754	1.251000	0.32862	0.146000	0.19002	0.655000	0.94253	GAT		0.542	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		47.254501	-18	-18	63	63	NM_007200		17	49.182392	49.182392	39	0.303571	0	0	0	1	0	17	39	0.303571	A	86124462	G	A	86124462	3	1	80	1	0	0	0	0	1	0	0	0	449	1058	37	1	3185	1	AKAP13	15	86124462	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2777986	86124462	16406930	377	1892											
NGRN	51335	broad.mit.edu	37	15	90814997	90814997	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:90814997G>A	ENST00000379095.3	+	3	861	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	285					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGACAGCAACGGGAACTTCCT	0.498																																						ENST00000379095.3											0			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(853-855)Ggg>Agg	neugrin, neurite outgrowth associated						48	47	47					15																	90814997		2199	4298	6497	SO:0001583	missense	51335			neuron differentiation	extracellular region|nucleus		g.chr15:90814997G>A	AB029315	AB029315	CCDS32329.1	CCDS32329.1	15q26.1	2008-02-05			2008-02-05			ENSG00000182768	ENSG00000182768	ENSG00000182768	ENSG00000182768				18077	18077	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11118320	11118320	Standard	Standard	NR_028052	NR_028052		Approved	DSC92	uc002bpf.1	uc002bpf.1	Q9NPE2	Q9NPE2	OTTHUMG00000149807	OTTHUMG00000149807	ENST00000379095.3:c.853G>A	15.37:g.90814997G>A	ENSP00000368389:p.Gly285Arg		RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	p.G285R	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		3	861	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		285		B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	ENST00000379095.3	37	c.853G>A	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858793	0.51376	.	.	ENSG00000182768	ENST00000379095	T	0.61980	0.06	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.64402	U	0.000007	T	0.60470	0.2271	L	0.58428	1.81	0.80722	D	1	P	0.43024	0.798	B	0.39068	0.289	T	0.68108	-0.5496	10	0.87932	D	0	.	16.4285	0.83832	0.0:0.0:1.0:0.0	.	285	Q9NPE2	NGRN_HUMAN	R	285	ENSP00000368389:G285R	ENSP00000368389:G285R	G	+	1	0	0	NGRN	88616001	88616001	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	6.893000	0.75649	2.540000	0.85666	0.460000	0.39030	GGG		0.498	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1		0.962719	3	3	80	80			4	9.693841	9.693841	45	0.081633	0	0	0	1	0	4	45	0.081633	A	90814997	G	A	90814997	3	1	80	1	0	0	0	0	1	0	0	0	10399	1116	39	1	863	1	NGRN	15	90814997	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4690535	90814997	11716395	378	1893											
ALDH1A3	220	broad.mit.edu	37	15	101440860	101440860	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:101440860G>A	ENST00000329841.5	+	9	1496	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V215M|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	322					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CAGGGTGTTCGTGGAGGAGCA	0.607																																						ENST00000329841.5											0			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(964-966)Gtg>Atg	aldehyde dehydrogenase 1 family, member A3						63	56	59					15																	101440860		2203	4300	6503	SO:0001583	missense	220			retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101440860G>A	U07919	U07919	CCDS10389.1	CCDS10389.1	15q26	2010-05-07			2010-05-07			ENSG00000184254	ENSG00000184254	ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	"Aldehyde dehydrogenases"	409	409	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	"retinaldehyde dehydrogenase 3"	600463	600463		ALDH6		ALDH6		7698756	7698756	Standard	Standard	XR_111558	XR_111558		Approved	RALDH3	uc002bwn.4	uc002bwn.4	P47895	P47895	OTTHUMG00000149870	OTTHUMG00000149870	ENST00000329841.5:c.964G>A	15.37:g.101440860G>A	ENSP00000332256:p.Val322Met		ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V215M|RP11-66B24.4_ENST00000560351.1_RNA	p.V322M	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		9	1496	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		322		Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.964G>A	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.764979	0.69878	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	D	0.86030	-2.06	5.7	5.7	0.88788	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98041	1.0382	10	0.87932	D	0	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	226;322	Q7Z3A2;P47895	.;AL1A3_HUMAN	M	322;226	ENSP00000332256:V322M	ENSP00000332256:V322M	V	+	1	0	0	ALDH1A3	99258383	99258383	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	9.338000	0.96553	2.671000	0.90904	0.655000	0.94253	GTG		0.607	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2		12.967092	11	11	30	30			5	13.930535	13.930535	14	0.263158	0	0	0	1	0	5	14	0.263158	A	101440860	G	A	101440860	3	1	80	1	0	0	0	0	1	0	0	0	492	1145	40	1	998	1	ALDH1A3	15	101440860	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	10625863	101440860	1090532	379	1894											
SNRNP25	79622	broad.mit.edu	37	16	105487	105487	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:105487T>C	ENST00000383018.3	+	2	259	c.98T>C	c.(97-99)aTa>aCa	p.I33T	SNRNP25_ENST00000493672.1_3'UTR|POLR3K_ENST00000293860.5_5'Flank	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	33					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				large_intestine(1)|lung(2)	3						AACTCCCAAATAGCCCTAGAA	0.498																																						ENST00000383018.3											0			large_intestine(1)|lung(2)	3						c.(97-99)aTa>aCa	small nuclear ribonucleoprotein 25kDa (U11/U12)						205	179	188					16																	105487		2203	4300	6503	SO:0001583	missense	79622			mRNA processing	U12-type spliceosomal complex		g.chr16:105487T>C	BC001381	BC001381	CCDS10396.1	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981	ENSG00000161981	ENSG00000161981				14161	14161	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"U11/U12 snRNP 25K"	"U11/U12 snRNP 25K"			"chromosome 16 open reading frame 33"	C16orf33	"chromosome 16 open reading frame 33"	C16orf33		15146077	15146077	Standard	Standard	NM_024571	NM_024571		Approved		uc002cfj.4	uc002cfj.4	Q9BV90	Q9BV90	OTTHUMG00000060720	OTTHUMG00000060720	ENST00000383018.3:c.98T>C	16.37:g.105487T>C	ENSP00000372482:p.Ile33Thr		SNRNP25_ENST00000493672.1_3'UTR	p.I33T	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN			2	259	+			33		Q1W6H3|Q6IEF8|Q9H5W4	Missense_Mutation	SNP	ENST00000383018.3	37	c.98T>C	CCDS10396.1	.	.	.	.	.	.	.	.	.	.	.	13.46	2.242658	0.39598	.	.	ENSG00000161981	ENST00000293861;ENST00000383018;ENST00000417493	.	.	.	5.58	4.5	0.54988	5.58	4.5	0.54988	.	0.051814	0.85682	D	0.000000	T	0.67924	0.2945	M	0.82323	2.585	0.49798	D	0.99982	D	0.63046	0.992	P	0.51657	0.676	T	0.71994	-0.4424	9	0.87932	D	0	-19.6039	10.0521	0.42221	0.0:0.0788:0.0:0.9212	.	33	Q9BV90	SNR25_HUMAN	T	24;33;24	.	ENSP00000293861:I24T	I	+	2	0	0	SNRNP25	45487	45487	1.000000	0.71417	0.998000	0.56505	0.386000	0.30323	6.967000	0.76079	0.980000	0.38523	0.460000	0.39030	ATA		0.498	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			-5.631902	4	4	170	170	NM_024571		5	12.18211	12.18211	82	0.057471	0	0	0	1	0	5	82	0.057471	C	105487	T	C	105487	3	2	80	1	0	0	0	0	1	0	0	0	14853	1406	49	4	104	4	SNRNP25	16	105487	Missense_Mutation	SNP	T	TCGA-YZ-A985-01A-11D-A39W-08		105487	90249266	380	1895											
C1QTNF8	390664	broad.mit.edu	37	16	1143802	1143802	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:1143802G>A	ENST00000328449.5	-	4	731	c.458C>T	c.(457-459)gCg>gTg	p.A153V		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	153	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				GAAGCGGCCCGCGGCCAGGTC	0.667																																						ENST00000328449.5											0			lung(2)|prostate(1)|skin(1)	4						c.(457-459)gCg>gTg	C1q and tumor necrosis factor related protein 8						33	38	36					16																	1143802		2195	4292	6487	SO:0001583	missense	390664				collagen		g.chr16:1143802G>A	AY358832	AY358832	CCDS32358.1	CCDS32358.1	16p13.3	2014-08-12			2014-08-12			ENSG00000184471	ENSG00000184471	ENSG00000184471	ENSG00000184471				31374	31374	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614147	614147						12975309	12975309	Standard	Standard	NM_207419	NM_207419		Approved	UNQ5829, CTRP8	uc010uuw.1	uc010uuw.1	P60827	P60827	OTTHUMG00000167756	OTTHUMG00000167756	ENST00000328449.5:c.458C>T	16.37:g.1143802G>A	ENSP00000330426:p.Ala153Val			p.A153V	NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN			4	731	-		Hepatocellular(780;0.00369)	153	C1q.	B7U178	Missense_Mutation	SNP	ENST00000328449.5	37	c.458C>T	CCDS32358.1	.	.	.	.	.	.	.	.	.	.	g	9.290	1.050284	0.19827	.	.	ENSG00000184471	ENST00000328449	T	0.75477	-0.94	3.52	0.366	0.16136	3.52	0.366	0.16136	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.874660	0.09560	N	0.785696	T	0.62708	0.2450	L	0.48642	1.525	0.09310	N	1	P	0.49185	0.92	B	0.38106	0.265	T	0.53878	-0.8376	10	0.72032	D	0.01	.	6.4102	0.21686	0.1013:0.3577:0.541:0.0	.	153	P60827	C1QT8_HUMAN	V	153	ENSP00000330426:A153V	ENSP00000330426:A153V	A	-	2	0	0	C1QTNF8	1083803	1083803	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	1.090000	0.30902	-0.067000	0.12976	-0.127000	0.14921	GCG		0.667	C1QTNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396120.1		3.739690	9	9	68	68	XM_372606		5	11.476017	11.476017	44	0.102041	0	0	0	1	0	5	44	0.102041	A	1143802	G	A	1143802	3	1	80	1	0	0	0	0	1	0	0	0	1969	1087	38	1	304	1	C1QTNF8	16	1143802	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1038315	1143802	89210951	381	1896											
CASKIN1	57524	broad.mit.edu	37	16	2231447	2231447	+	Missense_Mutation	SNP	G	G	A	rs201669676	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2231447G>A	ENST00000343516.6	-	18	2014	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	641					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCAGTCGGCCGGTGTGGGCTC	0.672													G|||	4	0.000798722	0	0	5008	,	,		9527	0.001		0	False		,,,				2504	0.0031					ENST00000343516.6											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(1921-1923)cCg>cTg	CASK interacting protein 1	G	LEU/PRO	1,3949		0,1,1974	16	24	22		1922	4.4	0.3	16		22	1,8275		0,1,4137	yes	missense	CASKIN1	NM_020764.3	98	0,2,6111	AA,AG,GG		0.0121,0.0253,0.0164	benign	641/1432	2231447	2,12224	1975	4138	6113	SO:0001583	missense	57524			signal transduction	cytoplasm		g.chr16:2231447G>A	AF451977	AF451977	CCDS42103.1	CCDS42103.1	16p13.3	2013-01-10			2013-01-10				ENSG00000167971		ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	20879	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612184	612184						12040031	12040031	Standard	Standard	NM_020764	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	uc010bsg.1	Q8WXD9	Q8WXD9			ENST00000343516.6:c.1922C>T	16.37:g.2231447G>A	ENSP00000345436:p.Pro641Leu			p.P641L	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			18	2014	-			641		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.1922C>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116819	0.20795	2.53E-4	1.21E-4	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.68903	-0.36	4.41	4.41	0.53225	4.41	4.41	0.53225	.	.	.	.	.	T	0.50069	0.1594	L	0.36672	1.1	0.48288	D	0.999623	P	0.42556	0.783	B	0.27887	0.084	T	0.60136	-0.7322	9	0.66056	D	0.02	-13.9855	12.367	0.55234	0.0:0.0:1.0:0.0	.	641	Q8WXD9	CSKI1_HUMAN	L	641;470	ENSP00000345436:P641L	ENSP00000345436:P641L	P	-	2	0	0	CASKIN1	2171448	2171448	0.998000	0.40836	0.308000	0.25141	0.173000	0.22820	4.591000	0.61019	2.286000	0.76751	0.555000	0.69702	CCG		0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1		46.757618	7	7	30	30	NM_020764		14	47.4727	47.4727	6	0.7	0	0	0	1	0	14	6	0.7	A	2231447	G	A	2231447	3	1	80	1	0	0	0	0	1	0	0	0	2666	1116	39	1	2385	1	CASKIN1	16	2231447	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1087645	2231447	88123306	382	1897											
MLST8	64223	broad.mit.edu	37	16	2258519	2258519	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2258519C>T	ENST00000569417.1	+	8	1121	c.767C>T	c.(766-768)aCg>aTg	p.T256M	MLST8_ENST00000565250.1_Missense_Mutation_p.T256M|MLST8_ENST00000382450.4_Missense_Mutation_p.T255M|MLST8_ENST00000397124.1_Missense_Mutation_p.T256M|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.T256M|MLST8_ENST00000564088.1_Missense_Mutation_p.T256M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	256					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 actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						TCCCTGATGACGGAGCTGAGC	0.647																																						ENST00000569417.1											0			large_intestine(3)|lung(2)|skin(1)	6						c.(766-768)aCg>aTg	MTOR associated protein, LST8 homolog (S. cerevisiae)						70	85	80					16																	2258519		2129	4239	6368	SO:0001583	missense	64223			insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2258519C>T			CCDS10462.2, CCDS58409.1	CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			2013-01-09			ENSG00000167965	ENSG00000167965	ENSG00000167965	ENSG00000167965		"WD repeat domain containing"	"WD repeat domain containing"	24825	24825	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"G protein beta subunit like"	"G protein beta subunit like"	612190	612190						12477932	12477932	Standard	Standard	NM_022372	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	uc002cpc.3	Q9BVC4	Q9BVC4	OTTHUMG00000128827	OTTHUMG00000128827	ENST00000569417.1:c.767C>T	16.37:g.2258519C>T	ENSP00000456405:p.Thr256Met		MLST8_ENST00000565250.1_Missense_Mutation_p.T256M|MLST8_ENST00000382450.4_Missense_Mutation_p.T255M|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000564088.1_Missense_Mutation_p.T256M|MLST8_ENST00000397124.1_Missense_Mutation_p.T256M|MLST8_ENST00000301724.10_Missense_Mutation_p.T256M	p.T256M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			8	1121	+			256		B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.767C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576300	0.65878	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124	T;T	0.40225	1.57;1.04	4.83	4.83	0.62350	4.83	4.83	0.62350	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	T	0.30448	0.0765	L	0.31120	0.905	0.80722	D	1	P;P	0.43094	0.799;0.783	B;B	0.33890	0.172;0.115	T	0.20840	-1.0263	10	0.51188	T	0.08	-16.3781	16.4983	0.84251	0.0:1.0:0.0:0.0	.	190;256	Q9BVC4-3;Q9BVC4	.;LST8_HUMAN	M	256	ENSP00000301724:T256M;ENSP00000380313:T256M	ENSP00000301724:T256M	T	+	2	0	0	MLST8	2198520	2198520	1.000000	0.71417	0.967000	0.41034	0.899000	0.52679	7.766000	0.85320	2.235000	0.73313	0.313000	0.20887	ACG		0.647	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2		-5.292687	-13	-13	151	151	NM_022372		5	11.211553	11.211553	77	0.060976	0	0	0	1	0	5	77	0.060976	T	2258519	C	T	2258519	3	4	80	1	0	0	0	0	1	0	0	0	9634	536	19	1	793	1	MLST8	16	2258519	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	27072	2258519	88096234	383	1898											
ABCA3	21	broad.mit.edu	37	16	2347526	2347526	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2347526G>A	ENST00000301732.5	-	17	2767	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	ABCA3_ENST00000382381.3_Silent_p.D631D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	689	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGGTGGGCTCGTCCAGTATCA	0.637																																						ENST00000301732.5											0			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2065-2067)gaC>gaT	ATP-binding cassette, sub-family A (ABC1), member 3						97	77	84					16																	2347526		2198	4300	6498	SO:0001819	synonymous_variant	21			response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347526G>A	U78735	U78735	CCDS10466.1	CCDS10466.1	16p13.3	2012-03-14			2012-03-14			ENSG00000167972	ENSG00000167972	ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	"ATP binding cassette transporters / subfamily A"	33	33	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601615	601615		ABC3		ABC3		8706931	8706931	Standard	Standard	NM_001089	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	uc002cpy.1	Q99758	Q99758	OTTHUMG00000128845	OTTHUMG00000128845	ENST00000301732.5:c.2067C>T	16.37:g.2347526G>A			ABCA3_ENST00000382381.3_Silent_p.D631D	p.D689D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			17	2767	-		Ovarian(90;0.17)	689	ABC transporter 1.	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.2067C>T	CCDS10466.1																																																																																									0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2		19.626932	-34	-34	41	41	NM_001089		8	22.14979	22.14979	28	0.222222	0	0	0	1	0	8	28	0.222222	A	2347526	G	A	2347526	2	1	80	1	0	0	0	0	0	0	0	1	33	1136	40	1		1	ABCA3	16	2347526	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	89007	2347526	88007227	384	1899											
ABCA3	21	broad.mit.edu	37	16	2373673	2373673	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2373673C>T	ENST00000301732.5	-	7	1164	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	ABCA3_ENST00000382381.3_Missense_Mutation_p.R155Q|ABCA3_ENST00000567910.1_Missense_Mutation_p.R155Q	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	155					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R155L(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GTAACTGAACCGTAGGTGATA	0.498																																						ENST00000301732.5											1	Substitution - Missense(1)	lung(1)	breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70	GRCh37	CM074651	ABCA3	M		c.(463-465)cGg>cAg	ATP-binding cassette, sub-family A (ABC1), member 3						212	237	228					16																	2373673		2198	4300	6498	SO:0001583	missense	21			response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2373673C>T	U78735	U78735	CCDS10466.1	CCDS10466.1	16p13.3	2012-03-14			2012-03-14			ENSG00000167972	ENSG00000167972	ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	"ATP binding cassette transporters / subfamily A"	33	33	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601615	601615		ABC3		ABC3		8706931	8706931	Standard	Standard	NM_001089	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	uc002cpy.1	Q99758	Q99758	OTTHUMG00000128845	OTTHUMG00000128845	ENST00000301732.5:c.464G>A	16.37:g.2373673C>T	ENSP00000301732:p.Arg155Gln		ABCA3_ENST00000382381.3_Missense_Mutation_p.R155Q|ABCA3_ENST00000567910.1_Missense_Mutation_p.R155Q	p.R155Q	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			7	1164	-		Ovarian(90;0.17)	155		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.464G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	36	5.693146	0.96793	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.97352	-4.35	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98972	0.9650	H	0.95294	3.65	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.991;1.0;1.0	D;P;D;D	0.97110	1.0;0.782;0.997;1.0	D	0.99395	1.0926	10	0.87932	D	0	.	17.9832	0.89147	0.0:1.0:0.0:0.0	.	155;217;155;155	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	Q	155;217	ENSP00000301732:R155Q	ENSP00000301732:R155Q	R	-	2	0	0	ABCA3	2313674	2313674	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	6.974000	0.76122	2.824000	0.97209	0.655000	0.94253	CGG		0.498	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2		92.829140	-44	-44	284	284	NM_001089		45	117.546412	117.546412	208	0.177866	0	0	0	1	0	45	208	0.177866	T	2373673	C	T	2373673	3	4	80	1	0	0	0	0	1	0	0	0	33	652	23	1	4758	1	ABCA3	16	2373673	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	26147	2373673	87981080	385	1900											
ZSCAN10	84891	broad.mit.edu	37	16	3139813	3139813	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:3139813C>T	ENST00000252463.2	-	5	1544	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R147Q|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R404Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	486					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGCACCCTCCGGTGGGCCAC	0.731																																						ENST00000252463.2											0			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1456-1458)cGg>cAg	zinc finger and SCAN domain containing 10						6	7	7					16																	3139813		2101	4166	6267	SO:0001583	missense	84891			negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139813C>T	AA206569	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		ENSG00000130182		"-", "Zinc fingers, C2H2-type"	"-", "Zinc fingers, C2H2-type"	12997	12997	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger protein 206"	ZNF206	"zinc finger protein 206"	ZNF206		9653642	9653642	Standard	Standard	NM_032805	NM_032805		Approved		uc002ctv.1	uc002ctv.1	Q96SZ4	Q96SZ4			ENST00000252463.2:c.1457G>A	16.37:g.3139813C>T	ENSP00000252463:p.Arg486Gln		ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R404Q|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R147Q	p.R486Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1544	-			486		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1457G>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574578	0.03882	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.07444	3.19	5.34	-0.863	0.10669	5.34	-0.863	0.10669	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.824186	0.10424	N	0.676268	T	0.02380	0.0073	N	0.04148	-0.265	0.58432	D	0.999999	B;B;B	0.26120	0.014;0.142;0.03	B;B;B	0.14578	0.009;0.011;0.004	T	0.48043	-0.9069	10	0.02654	T	1	-11.4591	3.7963	0.08740	0.1993:0.2839:0.0:0.5169	.	147;419;486	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	Q	419;486	ENSP00000252463:R486Q	ENSP00000252463:R486Q	R	-	2	0	0	ZSCAN10	3079814	3079814	0.000000	0.05858	0.914000	0.36105	0.946000	0.59487	-2.348000	0.01094	-0.024000	0.13941	-0.253000	0.11424	CGG		0.731	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		9.325414	-8	-8	9	9	NM_032805		3	9.369058	9.369058	2	0.6	0	0	0	1	0	3	2	0.6	T	3139813	C	T	3139813	3	4	80	1	0	0	0	0	1	0	0	0	18224	652	23	1	724	1	ZSCAN10	16	3139813	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	766140	3139813	87214940	386	1901											
OR1F1	4992	broad.mit.edu	37	16	3254391	3254391	+	Missense_Mutation	SNP	G	G	A	rs370564788		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:3254391G>A	ENST00000304646.2	+	1	145	c.145G>A	c.(145-147)Gta>Ata	p.V49I	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	49					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(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CATCCTGTCCGTAAGCATAGA	0.557																																						ENST00000304646.2											0			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						c.(145-147)Gta>Ata	olfactory receptor, family 1, subfamily F, member 1	G	ILE/VAL	0,4394		0,0,2197	189	158	169		145	2.6	0.6	16		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1F1	NM_012360.1	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	49/313	3254391	1,12993	2197	4300	6497	SO:0001583	missense	4992			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254391G>A	Y14442	Y14442	CCDS10496.1	CCDS10496.1	16p13.3	2012-08-09			2012-08-09			ENSG00000168124	ENSG00000168124	ENSG00000168124	ENSG00000168124		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8194	8194	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603232	603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	9288094, 9500546	Standard	Standard	NM_012360	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	uc010uwu.2	O43749	O43749	OTTHUMG00000133153	OTTHUMG00000133153	ENST00000304646.2:c.145G>A	16.37:g.3254391G>A	ENSP00000305424:p.Val49Ile		AJ003147.9_ENST00000576468.1_RNA	p.V49I	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN			1	145	+			49		O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.145G>A	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.901211	0.00517	0.0	1.16E-4	ENSG00000168124	ENST00000304646	T	0.01422	4.91	4.97	2.58	0.30949	4.97	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.225949	0.30911	N	0.008635	T	0.00468	0.0015	N	0.00471	-1.455	0.24237	N	0.995376	B	0.06786	0.001	B	0.06405	0.002	T	0.47560	-0.9108	10	0.02654	T	1	.	7.3561	0.26719	0.7883:0.0:0.2117:0.0	.	49	O43749	OR1F1_HUMAN	I	49	ENSP00000305424:V49I	ENSP00000305424:V49I	V	+	1	0	0	OR1F1	3194392	3194392	0.003000	0.15002	0.639000	0.29394	0.007000	0.05969	0.205000	0.17356	0.252000	0.21531	0.393000	0.25936	GTA		0.557	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1		-5.374947	1	1	76	76			3	6.356911	6.356911	53	0.053571	0	0	0	1	0	3	53	0.053571	A	3254391	G	A	3254391	3	1	80	1	0	0	0	0	1	0	0	0	10956	1145	40	1	147	1	OR1F1	16	3254391	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	114578	3254391	87100362	387	1902											
ADCY9	115	broad.mit.edu	37	16	4164055	4164055	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:4164055G>A	ENST00000294016.3	-	2	1927	c.1389C>T	c.(1387-1389)atC>atT	p.I463I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	463	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCCATCTCGATGCAGCAGT	0.597																																						ENST00000294016.3											0			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1387-1389)atC>atT	adenylate cyclase 9						87	93	91					16																	4164055		2197	4300	6497	SO:0001819	synonymous_variant	115			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164055G>A	AF036927	AF036927	CCDS32382.1	CCDS32382.1	16p13.3	2013-02-04			2013-02-04				ENSG00000162104		ENSG00000162104	4.6.1.1	"Adenylate cyclases"	"Adenylate cyclases"	240	240	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603302	603302						9628827	9628827	Standard	Standard	NM_001116	NM_001116		Approved	AC9	uc002cvx.3	uc002cvx.3	O60503	O60503			ENST00000294016.3:c.1389C>T	16.37:g.4164055G>A				p.I463I	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1927	-			463	Guanylate cyclase 1.	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.1389C>T	CCDS32382.1																																																																																									0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		5.309029	1	1	82	82			6	14.388341	14.388341	52	0.103448	0	0	0	1	0	6	52	0.103448	A	4164055	G	A	4164055	2	1	80	1	0	0	0	0	0	0	0	1	301	1048	37	1		1	ADCY9	16	4164055	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	909664	4164055	86190698	388	1903											
PPL	5493	broad.mit.edu	37	16	4933601	4933601	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:4933601G>A	ENST00000345988.2	-	22	5144	c.5055C>T	c.(5053-5055)ttC>ttT	p.F1685F	PPL_ENST00000590782.2_Silent_p.F1683F	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1685					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGAGTTTCACGAACATGTTCC	0.592																																						ENST00000345988.2											0			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(5053-5055)ttC>ttT	periplakin						73	66	69					16																	4933601		2197	4300	6497	SO:0001819	synonymous_variant	5493			keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933601G>A	AF013717	AF013717	CCDS10526.1	CCDS10526.1	16p13.3	2008-02-05			2008-02-05			ENSG00000118898	ENSG00000118898	ENSG00000118898	ENSG00000118898				9273	9273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602871	602871						9570964, 9521878	9570964, 9521878	Standard	Standard	NM_002705	NM_002705		Approved		uc002cyd.1	uc002cyd.1	O60437	O60437	OTTHUMG00000129528	OTTHUMG00000129528	ENST00000345988.2:c.5055C>T	16.37:g.4933601G>A			PPL_ENST00000590782.2_Silent_p.F1683F	p.F1685F	NM_002705.4	NP_002696	O60437	PEPL_HUMAN			22	5144	-			1685		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.5055C>T	CCDS10526.1																																																																																									0.592	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		50.000251	3	3	47	47	NM_002705		16	50.007247	50.007247	15	0.516129	0	0	0	1	0	16	15	0.516129	A	4933601	G	A	4933601	2	1	80	1	0	0	0	0	0	0	0	1	12334	1049	37	1		1	PPL	16	4933601	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	769546	4933601	85421152	389	1904											
PPL	5493	broad.mit.edu	37	16	4949058	4949058	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:4949058C>T	ENST00000345988.2	-	8	921	c.832G>A	c.(832-834)Gac>Aac	p.D278N	PPL_ENST00000590782.2_Missense_Mutation_p.D276N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	278					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCAGCTGGTCGCCCTCGCTG	0.632																																						ENST00000345988.2											0			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(832-834)Gac>Aac	periplakin						76	83	81					16																	4949058		2197	4300	6497	SO:0001583	missense	5493			keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4949058C>T	AF013717	AF013717	CCDS10526.1	CCDS10526.1	16p13.3	2008-02-05			2008-02-05			ENSG00000118898	ENSG00000118898	ENSG00000118898	ENSG00000118898				9273	9273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602871	602871						9570964, 9521878	9570964, 9521878	Standard	Standard	NM_002705	NM_002705		Approved		uc002cyd.1	uc002cyd.1	O60437	O60437	OTTHUMG00000129528	OTTHUMG00000129528	ENST00000345988.2:c.832G>A	16.37:g.4949058C>T	ENSP00000340510:p.Asp278Asn		PPL_ENST00000590782.2_Missense_Mutation_p.D276N	p.D278N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN			8	921	-			278		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.832G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859704	0.71834	.	.	ENSG00000118898	ENST00000345988	T	0.35048	1.33	5.04	4.09	0.47781	5.04	4.09	0.47781	.	0.183662	0.47093	D	0.000242	T	0.34048	0.0884	M	0.64170	1.965	0.46954	D	0.999262	B	0.26041	0.14	B	0.15484	0.013	T	0.19095	-1.0316	10	0.59425	D	0.04	.	10.6588	0.45690	0.0:0.8456:0.0:0.1544	.	278	O60437	PEPL_HUMAN	N	278	ENSP00000340510:D278N	ENSP00000340510:D278N	D	-	1	0	0	PPL	4889059	4889059	0.998000	0.40836	0.811000	0.32455	0.441000	0.31987	3.919000	0.56439	1.126000	0.42016	0.561000	0.74099	GAC		0.632	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		59.787848	-30	-30	91	91	NM_002705		21	60.964744	60.964744	39	0.35	0	0	0	1	0	21	39	0.35	T	4949058	C	T	4949058	3	4	80	1	0	0	0	0	1	0	0	0	12334	884	31	1	4498	1	PPL	16	4949058	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15457	4949058	85405695	390	1905											
CIITA	4261	broad.mit.edu	37	16	11001145	11001145	+	Missense_Mutation	SNP	G	G	A	rs141095229		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:11001145G>A	ENST00000324288.8	+	11	1929	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	599	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACGCTCCTCCGGGACCGGCCA	0.622			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																	ENST00000324288.8		Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1795-1797)cGg>cAg	class II, major histocompatibility complex, transactivator	G	GLN/ARG	0,4390		0,0,2195	38	36	37		1796	-4.7	0	16	dbSNP_134	37	1,8599		0,1,4299	no	missense	CIITA	NM_000246.3	43	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign	599/1131	11001145	1,12989	2195	4300	6495	SO:0001583	missense	4261			interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001145G>A	U18259	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	"Nucleotide-binding domain and leucine rich repeat containing"	7067	7067	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	600005	"MHC class II transactivator"	MHC2TA	"MHC class II transactivator"	MHC2TA		8402893	8402893	Standard	Standard	NM_000246	NM_000246		Approved	C2TA, NLRA	uc002dai.4	uc002dai.4	P33076	P33076	OTTHUMG00000129753	OTTHUMG00000129753	ENST00000324288.8:c.1796G>A	16.37:g.11001145G>A	ENSP00000316328:p.Arg599Gln		CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.R599Q	NM_000246.3	NP_000237	P33076	C2TA_HUMAN			11	1929	+			599	NACHT.	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.1796G>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	6.458	0.452639	0.12283	0.0	1.16E-4	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.80909	-1.43	5.1	-4.74	0.03249	5.1	-4.74	0.03249	NACHT nucleoside triphosphatase (1);	1.375580	0.04775	N	0.428783	T	0.62183	0.2407	N	0.17278	0.47	0.09310	N	1	B;B;B;B	0.20261	0.002;0.002;0.043;0.001	B;B;B;B	0.16289	0.003;0.001;0.015;0.001	T	0.49579	-0.8925	10	0.14656	T	0.56	.	7.8264	0.29318	0.5702:0.0:0.3207:0.1091	.	599;599;551;599	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	Q	599;551	ENSP00000316328:R599Q	ENSP00000316328:R599Q	R	+	2	0	0	CIITA	10908646	10908646	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	-0.048000	0.11944	-1.468000	0.01892	-0.768000	0.03414	CGG		0.622	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2		18.344654	-2	-2	32	32	NM_000246		6	18.787138	18.787138	12	0.333333	0	0	0	1	0	6	12	0.333333	A	11001145	G	A	11001145	3	1	80	1	0	0	0	0	1	0	0	0	3428	1116	39	1	1838	1	CIITA	16	11001145	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6052087	11001145	79353608	391	1906											
FAM57B	83723	broad.mit.edu	37	16	30036680	30036680	+	Missense_Mutation	SNP	G	G	A	rs202084270	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:30036680G>A	ENST00000380495.4	-	5	1380	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	FAM57B_ENST00000279389.4_Missense_Mutation_p.R167C|FAM57B_ENST00000564806.1_3'UTR	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	217	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCGGCATGGCGCCCGTAGGCC	0.672													G|||	3	0.000599042	0	0	5008	,	,		13987	0.003		0	False		,,,				2504	0					ENST00000380495.4											0			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(649-651)Cgc>Tgc	family with sequence similarity 57, member B						36	39	38					16																	30036680		2195	4296	6491	SO:0001583	missense	83723				endoplasmic reticulum|integral to membrane		g.chr16:30036680G>A	AF370365	AF370365	CCDS10667.2	CCDS10667.2	16p11.2	2013-02-19			2013-02-19			ENSG00000149926	ENSG00000149926	ENSG00000149926	ENSG00000149926				25295	25295	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615175	615175						11230166, 23275342	11230166, 23275342	Standard	Standard	NM_031478	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	uc002dvt.3	Q71RH2	Q71RH2	OTTHUMG00000132105	OTTHUMG00000132105	ENST00000380495.4:c.649C>T	16.37:g.30036680G>A	ENSP00000369863:p.Arg217Cys		FAM57B_ENST00000279389.4_Missense_Mutation_p.R167C|FAM57B_ENST00000564806.1_3'UTR	p.R217C	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN			5	1380	-			217	TLC.	Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.649C>T	CCDS10667.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.01	3.280625	0.59758	.	.	ENSG00000149926	ENST00000380495	D	0.85773	-2.03	4.78	3.8	0.43715	4.78	3.8	0.43715	TRAM/LAG1/CLN8 homology domain (3);	0.124480	0.49916	D	0.000124	D	0.85137	0.5628	M	0.75777	2.31	0.80722	D	1	P	0.39116	0.66	B	0.41332	0.354	T	0.83349	-0.0004	10	0.37606	T	0.19	-5.6786	13.0654	0.59030	0.0:0.0:0.8373:0.1627	.	217	Q71RH2	FA57B_HUMAN	C	217	ENSP00000369863:R217C	ENSP00000369863:R217C	R	-	1	0	0	FAM57B	29944181	29944181	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.638000	0.46562	0.950000	0.37743	0.561000	0.74099	CGC		0.672	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2		11.498167	0	0	21	21	NM_031478		4	11.585551	11.585551	6	0.4	0	0	0	1	0	4	6	0.4	A	30036680	G	A	30036680	3	1	80	1	0	0	0	0	1	0	0	0	5589	1087	38	1	179	1	FAM57B	16	30036680	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	19035535	30036680	60318073	392	1907											
ZNF764	92595	broad.mit.edu	37	16	30566853	30566853	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:30566853C>T	ENST00000252797.2	-	3	969	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	ZNF764_ENST00000395091.2_Missense_Mutation_p.A296T|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GAGGGGTAGGCGAAGGCGCGG	0.731																																						ENST00000395091.2											0			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(886-888)Gcc>Acc	zinc finger protein 764																																			SO:0001583	missense	92595			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30566853C>T	BC008821	BC008821	CCDS10683.1, CCDS54001.1	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			2013-01-08			ENSG00000169951	ENSG00000169951	ENSG00000169951	ENSG00000169951		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	28200	28200	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_033410	NM_033410		Approved	MGC13138	uc002dyq.3	uc002dyq.3	Q96H86	Q96H86	OTTHUMG00000132406	OTTHUMG00000132406	ENST00000252797.2:c.889G>A	16.37:g.30566853C>T	ENSP00000252797:p.Ala297Thr		AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.A297T	p.A296T			Q96H86	ZN764_HUMAN			3	1201	-			297		A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.886G>A	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645688	0.29246	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.17691	2.26;2.26	5.19	5.19	0.71726	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38720	N	0.001581	T	0.17662	0.0424	N	0.11870	0.19	0.23813	N	0.996776	D;D	0.89917	1.0;0.962	D;P	0.91635	0.999;0.613	T	0.29882	-0.9997	10	0.12430	T	0.62	-19.7122	6.6707	0.23066	0.1786:0.7339:0.0:0.0875	.	296;297	B3KSN2;Q96H86	.;ZN764_HUMAN	T	297;296	ENSP00000252797:A297T;ENSP00000378526:A296T	ENSP00000252797:A297T	A	-	1	0	0	ZNF764	30474354	30474354	0.000000	0.05858	0.993000	0.49108	0.042000	0.13812	-1.697000	0.01910	2.709000	0.92574	0.561000	0.74099	GCC		0.731	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1		15.675857	-8	-8	16	16	NM_033410		5	15.700072	15.700072	4	0.555556	0	0	0	1	0	5	4	0.555556	T	30566853	C	T	30566853	3	4	80	1	0	0	0	0	1	0	0	0	18135	768	27	1	341	1	ZNF764	16	30566853	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	530173	30566853	59787900	393	1908											
ZNF629	23361	broad.mit.edu	37	16	30793309	30793309	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:30793309G>A	ENST00000262525.4	-	3	2547	c.2340C>T	c.(2338-2340)cgC>cgT	p.R780R	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	780					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TGAGGGCCACGCGGTCGAGGA	0.647																																						ENST00000262525.4											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2338-2340)cgC>cgT	zinc finger protein 629						80	95	90					16																	30793309		1915	4115	6030	SO:0001819	synonymous_variant	23361			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793309G>A	AB002324	AB002324	CCDS45463.1	CCDS45463.1	16p11.2	2013-01-08			2013-01-08				ENSG00000102870		ENSG00000102870		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	29008	29008	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger protein 65"	ZNF65	"zinc finger protein 65"	ZNF65		9205841	9205841	Standard	Standard	NM_001080417	NM_001080417		Approved	KIAA0326	uc002dzs.1	uc002dzs.1	Q9UEG4	Q9UEG4			ENST00000262525.4:c.2340C>T	16.37:g.30793309G>A				p.R780R	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2547	-			780		Q15938	Silent	SNP	ENST00000262525.4	37	c.2340C>T	CCDS45463.1																																																																																									0.647	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1		52.397638	-28	-28	132	132	NM_015309		22	59.424876	59.424876	77	0.222222	0	0	0	1	0	22	77	0.222222	A	30793309	G	A	30793309	2	1	80	1	0	0	0	0	0	0	0	1	18050	1074	38	1		1	ZNF629	16	30793309	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	226456	30793309	59561444	394	1909											
ITGAX	3687	broad.mit.edu	37	16	31374553	31374553	+	Missense_Mutation	SNP	C	C	T	rs200458998		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:31374553C>T	ENST00000268296.4	+	14	1689	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	523					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGCTTTGGGGCGGCTCTGACA	0.617																																						ENST00000268296.4											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1567-1569)gCg>gTg	integrin, alpha X (complement component 3 receptor 4 subunit)						108	117	114					16																	31374553		2197	4300	6497	SO:0001583	missense	3687			blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374553C>T	BC038237	BC038237	CCDS10711.1, CCDS67014.1	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678	ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	"CD molecules", "Complement system", "Integrins"	6152	6152	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			151510	151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	3284962, 2303426	Standard	Standard	NM_001286375	NM_001286375		Approved	CD11c	uc002ebu.1	uc002ebu.1	P20702	P20702	OTTHUMG00000132465	OTTHUMG00000132465	ENST00000268296.4:c.1568C>T	16.37:g.31374553C>T	ENSP00000268296:p.Ala523Val		ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V	p.A523V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			14	1689	+			523		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1568C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345086	0.82022	.	.	ENSG00000140678	ENST00000268296	T	0.24538	1.85	4.03	4.03	0.46877	4.03	4.03	0.46877	.	.	.	.	.	T	0.33440	0.0863	M	0.78049	2.395	0.37132	D	0.901292	D	0.71674	0.998	B	0.43331	0.416	T	0.54430	-0.8295	9	0.66056	D	0.02	.	13.447	0.61146	0.0:1.0:0.0:0.0	.	523	P20702	ITAX_HUMAN	V	523	ENSP00000268296:A523V	ENSP00000268296:A523V	A	+	2	0	0	ITGAX	31282054	31282054	0.869000	0.29996	0.996000	0.52242	0.944000	0.59088	1.939000	0.40213	1.952000	0.56665	0.460000	0.39030	GCG		0.617	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2		55.818695	-43	-43	110	110	NM_000887		22	59.464464	59.464464	58	0.275	0	0	0	1	0	22	58	0.275	T	31374553	C	T	31374553	3	4	80	1	0	0	0	0	1	0	0	0	7889	768	27	1	1622	1	ITGAX	16	31374553	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	581244	31374553	58980200	395	1910											
ZNF423	23090	broad.mit.edu	37	16	49669602	49669602	+	Missense_Mutation	SNP	C	C	T	rs532940886		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:49669602C>T	ENST00000561648.1	-	4	3514	c.3461G>A	c.(3460-3462)cGg>cAg	p.R1154Q	ZNF423_ENST00000562520.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1094Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1154Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R1037Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R1037Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1154					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTGCCTTTCCGGGGCCCACT	0.647													C|||	1	0.000199681	0	0	5008	,	,		15875	0.001		0	False		,,,				2504	0					ENST00000561648.1											0			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3460-3462)cGg>cAg	zinc finger protein 423						73	65	68					16																	49669602		2199	4300	6499	SO:0001583	missense	23090			cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669602C>T	AB018303	AB018303	CCDS32445.1, CCDS61930.1	CCDS32445.1, CCDS61930.1	16q12	2014-01-28			2014-01-28				ENSG00000102935		ENSG00000102935		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	16762	16762	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557	604557						9872452, 10660046	9872452, 10660046	Standard	Standard	NM_001271620	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	uc031qwd.1	Q2M1K9	Q2M1K9			ENST00000561648.1:c.3461G>A	16.37:g.49669602C>T	ENSP00000455426:p.Arg1154Gln		ZNF423_ENST00000562871.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R1037Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R1037Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1094Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1154Q	p.R1154Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3514	-		all_cancers(37;0.0155)	1154		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3461G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	6.234	0.411350	0.11812	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08370	3.1;3.14	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.162594	0.53938	D	0.000047	T	0.04634	0.0126	N	0.08118	0	0.30752	N	0.744979	B	0.21309	0.054	B	0.17433	0.018	T	0.21552	-1.0242	9	.	.	.	-11.3172	12.7995	0.57578	0.0:0.9215:0.0:0.0785	.	1154	Q2M1K9	ZN423_HUMAN	Q	1154;1037	ENSP00000262383:R1154Q;ENSP00000442321:R1037Q	.	R	-	2	0	0	ZNF423	48227103	48227103	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.803000	0.38863	2.344000	0.79699	0.561000	0.74099	CGG		0.647	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		47.454293	-16	-16	92	92	NM_015069		17	49.240682	49.240682	38	0.309091	0	0	0	1	0	17	38	0.309091	T	49669602	C	T	49669602	3	4	80	1	0	0	0	0	1	0	0	0	17895	652	23	1	413	1	ZNF423	16	49669602	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	18295049	49669602	40685151	396	1911											
ZNF423	23090	broad.mit.edu	37	16	49672258	49672258	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:49672258C>T	ENST00000561648.1	-	4	858	c.805G>A	c.(805-807)Gag>Aag	p.E269K	ZNF423_ENST00000562520.1_Missense_Mutation_p.E209K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E209K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E269K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E152K|ZNF423_ENST00000562871.1_Missense_Mutation_p.E209K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E152K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	269					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AAGGTGTCCTCGCAGTAGTCG	0.597																																						ENST00000561648.1											0			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(805-807)Gag>Aag	zinc finger protein 423						54	44	47					16																	49672258		2198	4300	6498	SO:0001583	missense	23090			cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672258C>T	AB018303	AB018303	CCDS32445.1, CCDS61930.1	CCDS32445.1, CCDS61930.1	16q12	2014-01-28			2014-01-28				ENSG00000102935		ENSG00000102935		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	16762	16762	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557	604557						9872452, 10660046	9872452, 10660046	Standard	Standard	NM_001271620	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	uc031qwd.1	Q2M1K9	Q2M1K9			ENST00000561648.1:c.805G>A	16.37:g.49672258C>T	ENSP00000455426:p.Glu269Lys		ZNF423_ENST00000562871.1_Missense_Mutation_p.E209K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E209K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E152K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E152K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E209K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E269K	p.E269K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	858	-		all_cancers(37;0.0155)	269		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.805G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087678	0.76642	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.76578	-1.03;-1.03	5.0	5.0	0.66597	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	L	0.50333	1.59	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	D	0.84312	0.0511	9	.	.	.	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	269	Q2M1K9	ZN423_HUMAN	K	269;152	ENSP00000262383:E269K;ENSP00000442321:E152K	.	E	-	1	0	0	ZNF423	48229759	48229759	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.331000	0.79229	0.561000	0.74099	GAG		0.597	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		16.142004	-24	-24	24	24	NM_015069		6	16.856909	16.856909	14	0.3	0	0	0	1	0	6	14	0.3	T	49672258	C	T	49672258	3	4	80	1	0	0	0	0	1	0	0	0	17895	893	31	1	3069	1	ZNF423	16	49672258	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2656	49672258	40682495	397	1912											
TOX3	27324	broad.mit.edu	37	16	52498045	52498045	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:52498045G>A	ENST00000219746.9	-	3	493	c.209C>T	c.(208-210)aCg>aTg	p.T70M	TOX3_ENST00000407228.3_Missense_Mutation_p.T65M	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	70					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGAGGAGGCGTGATTGGTGG	0.488																																						ENST00000219746.9											0			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(208-210)aCg>aTg	TOX high mobility group box family member 3						135	150	145					16																	52498045		2082	4207	6289	SO:0001583	missense	27324			apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52498045G>A	U80736	U80736	CCDS54008.1, CCDS54009.1	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	"Trinucleotide (CAG) repeat containing"	11972	11972	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611416	611416	"trinucleotide repeat containing 9"	TNRC9	"trinucleotide repeat containing 9"	TNRC9		9225980	9225980	Standard	Standard	NM_001080430	NM_001080430		Approved	CAGF9	uc002egw.2	uc002egw.2	O15405	O15405			ENST00000219746.9:c.209C>T	16.37:g.52498045G>A	ENSP00000219746:p.Thr70Met		TOX3_ENST00000407228.3_Missense_Mutation_p.T65M	p.T70M	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			3	493	-			70		B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.209C>T	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496926	0.64186	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.44482	0.92;0.92	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.051178	0.85682	D	0.000000	T	0.68439	0.3001	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	T	0.70015	-0.4988	10	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	65;70	B4DRD0;O15405	.;TOX3_HUMAN	M	70;65	ENSP00000219746:T70M;ENSP00000385705:T65M	ENSP00000219746:T70M	T	-	2	0	0	TOX3	51055546	51055546	1.000000	0.71417	0.989000	0.46669	0.728000	0.41692	7.863000	0.87023	2.806000	0.96561	0.655000	0.94253	ACG		0.488	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1		51.098002	-8	-8	77	77	XM_049037		19	53.915398	53.915398	48	0.283582	0	0	0	1	0	19	48	0.283582	A	52498045	G	A	52498045	3	1	80	1	0	0	0	0	1	0	0	0	16376	1145	40	1	1541	1	TOX3	16	52498045	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2825787	52498045	37856708	398	1913											
DPEP2	64174	broad.mit.edu	37	16	68026047	68026047	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:68026047C>T	ENST00000572888.1	-	3	1090	c.440G>A	c.(439-441)cGc>cAc	p.R147H	DPEP2_ENST00000393847.1_Missense_Mutation_p.R147H|DPEP2_ENST00000412757.2_Missense_Mutation_p.R147H			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	147					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CAGGGTGAGGCGCAGGGCATC	0.602																																						ENST00000412757.2											0			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(439-441)cGc>cAc	dipeptidase 2						111	104	106					16																	68026047		2198	4300	6498	SO:0001583	missense	64174			hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68026047C>T	AJ295149	AJ295149	CCDS10857.1	CCDS10857.1	16q22.1	2011-07-22			2011-07-22			ENSG00000167261	ENSG00000167261	ENSG00000167261	ENSG00000167261	3.4.13.19			23028	23028	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609925	609925								Standard	Standard	NM_022355	NM_022355		Approved		uc002eve.4	uc002eve.4	Q9H4A9	Q9H4A9	OTTHUMG00000137542	OTTHUMG00000137542	ENST00000572888.1:c.440G>A	16.37:g.68026047C>T	ENSP00000458977:p.Arg147His		DPEP2_ENST00000393847.1_Missense_Mutation_p.R147H|DPEP2_ENST00000572888.1_Missense_Mutation_p.R147H	p.R147H			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	5	1105	-		Ovarian(137;0.192)	147		B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.440G>A	CCDS10857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.166270|4.166270	0.78339|0.78339	.|.	.|.	ENSG00000167261|ENSG00000167261	ENST00000268795|ENST00000393847;ENST00000412757;ENST00000322384	.|T;T	.|0.24151	.|1.87;1.87	4.77|4.77	2.64|2.64	0.31445|0.31445	4.77|4.77	2.64|2.64	0.31445|0.31445	.|.	.|0.187643	.|0.41712	.|N	.|0.000825	T|T	0.45617|0.45617	0.1351|0.1351	M|M	0.75150|0.75150	2.29|2.29	0.80722|0.80722	D|D	1|1	P|D;D	0.46952|0.89917	0.887|1.0;1.0	B|D;D	0.35240|0.91635	0.198|0.999;0.998	T|T	0.43988|0.43988	-0.9357|-0.9357	8|10	0.87932|0.87932	D|D	0|0	-18.7858|-18.7858	7.5897|7.5897	0.28015|0.28015	0.0:0.7378:0.168:0.0942|0.0:0.7378:0.168:0.0942	.|.	105|147;60	B4DNP7|Q9H4A9;Q9H4A9-2	.|DPEP2_HUMAN;.	T|H	105|147;147;60	.|ENSP00000377430:R147H;ENSP00000412549:R147H	ENSP00000268795:A105T|ENSP00000314702:R60H	A|R	-|-	1|2	0|0	0|0	DPEP2|DPEP2	66583548|66583548	66583548|66583548	0.402000|0.402000	0.25311|0.25311	1.000000|1.000000	0.80357|0.80357	0.820000|0.820000	0.46376|0.46376	0.055000|0.055000	0.14229|0.14229	1.337000|1.337000	0.45525|0.45525	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.602	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1		81.552107	-10	-10	78	78	NM_022355		26	81.624494	81.624494	22	0.541667	0	0	0	1	0	26	22	0.541667	T	68026047	C	T	68026047	3	4	80	1	0	0	0	0	1	0	0	0	4714	768	27	1	1052	1	DPEP2	16	68026047	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15528002	68026047	22328706	399	1914											
SMPD3	55512	broad.mit.edu	37	16	68405352	68405352	+	Missense_Mutation	SNP	C	C	T	rs200081668		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:68405352C>T	ENST00000219334.5	-	3	1336	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M|SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	245					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.V245M(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCGATGCGCACGATGCAGGCA	0.726																																						ENST00000219334.5											1	Substitution - Missense(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(733-735)Gtg>Atg	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)						17	19	18					16																	68405352		2193	4288	6481	SO:0001583	missense	55512			cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68405352C>T	AJ250460	AJ250460	CCDS10867.1	CCDS10867.1	16q22.1	2008-02-05			2008-02-05			ENSG00000103056	ENSG00000103056	ENSG00000103056	ENSG00000103056				14240	14240	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605777	605777						10823942	10823942	Standard	Standard	NM_018667	NM_018667		Approved	NSMASE2	uc002ewa.3	uc002ewa.3	Q9NY59	Q9NY59	OTTHUMG00000137559	OTTHUMG00000137559	ENST00000219334.5:c.733G>A	16.37:g.68405352C>T	ENSP00000219334:p.Val245Met		SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M|SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M	p.V245M	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1336	-		Ovarian(137;0.0563)	245		B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.733G>A	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663374	0.47572	.	.	ENSG00000103056	ENST00000219334	.	.	.	5.47	4.43	0.53597	5.47	4.43	0.53597	.	0.461133	0.24554	N	0.037525	T	0.25344	0.0616	N	0.19112	0.55	0.34592	D	0.715587	D;D;D	0.56035	0.974;0.974;0.974	B;B;B	0.42692	0.395;0.395;0.395	T	0.29761	-1.0001	9	0.49607	T	0.09	-19.6989	5.022	0.14365	0.0:0.7532:0.0:0.2468	.	245;245;245	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	M	245	.	ENSP00000219334:V245M	V	-	1	0	0	SMPD3	66962853	66962853	0.891000	0.30450	0.975000	0.42487	0.124000	0.20399	1.529000	0.35996	2.563000	0.86464	0.561000	0.74099	GTG		0.726	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3		40.007995	8	8	28	28	NM_018667		12	41.26358	41.26358	3	0.8	0	0	0	1	0	12	3	0.8	T	68405352	C	T	68405352	3	4	80	1	0	0	0	0	1	0	0	0	14806	536	19	1	1262	1	SMPD3	16	68405352	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	379305	68405352	21949401	400	1915											
CDH3	1001	broad.mit.edu	37	16	68732183	68732183	+	Silent	SNP	G	G	A	rs533035937		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:68732183G>A	ENST00000264012.4	+	16	2914	c.2370G>A	c.(2368-2370)gcG>gcA	p.A790A	CDH3_ENST00000581171.1_Silent_p.A735A|CDH3_ENST00000429102.2_3'UTR	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	790	Ser-rich.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCGACGCCGCGTCCCTGAGCT	0.612																																						ENST00000264012.4											2	Unknown(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(2368-2370)gcG>gcA	cadherin 3, type 1, P-cadherin (placental)						102	101	102					16																	68732183		2198	4300	6498	SO:0001819	synonymous_variant	1001			adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68732183G>A	X63629	X63629	CCDS10868.1	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038	ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	"Cadherins / Major cadherins"	1762	1762	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114021	114021	"cadherin 3, P-cadherin (placental)"		"cadherin 3, P-cadherin (placental)"			1427864	1427864	Standard	Standard	NM_001793	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	uc002ewf.2	P22223	P22223	OTTHUMG00000137560	OTTHUMG00000137560	ENST00000264012.4:c.2370G>A	16.37:g.68732183G>A			CDH3_ENST00000581171.1_Silent_p.A735A|CDH3_ENST00000429102.2_3'UTR	p.A790A	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	16	2914	+		Ovarian(137;0.0564)	790	Ser-rich.	B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.2370G>A	CCDS10868.1																																																																																									0.612	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2		-3.046212	-19	-19	132	132	NM_001793		7	13.638389	13.638389	84	0.076923	0	0	0	1	0	7	84	0.076923	A	68732183	G	A	68732183	2	1	80	1	0	0	0	0	0	0	0	1	3111	1132	40	1		1	CDH3	16	68732183	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	326831	68732183	21622570	401	1916											
ZFHX3	463	broad.mit.edu	37	16	72993166	72993166	+	Silent	SNP	G	G	A	rs183134469		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:72993166G>A	ENST00000268489.5	-	2	1551	c.879C>T	c.(877-879)taC>taT	p.Y293Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	293					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACGAACGGACGTACCCAAAGG	0.493													G|||	1	0.000199681	0	0	5008	,	,		18624	0.001		0	False		,,,				2504	0					ENST00000268489.5											0			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(877-879)taC>taT	zinc finger homeobox 3						96	85	89					16																	72993166		2198	4300	6498	SO:0001819	synonymous_variant	463			muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993166G>A	D10250	D10250	CCDS10908.1, CCDS54035.1	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	777	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			104155	104155	"AT-binding transcription factor 1"	ATBF1	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	1719379, 7592926	Standard	Standard	NM_006885	NM_006885		Approved	ZNF927	uc002fck.3	uc002fck.3	Q15911	Q15911	OTTHUMG00000137599	OTTHUMG00000137599	ENST00000268489.5:c.879C>T	16.37:g.72993166G>A			ZFHX3_ENST00000397992.5_Intron	p.Y293Y	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1551	-		Ovarian(137;0.13)	293		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.879C>T	CCDS10908.1																																																																																									0.493	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		96.954730	4	4	87	87	NM_006885		30	97.053643	97.053643	25	0.545455	0	0	0	1	0	30	25	0.545455	A	72993166	G	A	72993166	2	1	80	1	0	0	0	0	0	0	0	1	17631	1140	40	1		1	ZFHX3	16	72993166	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4260983	72993166	17361587	402	1917											
ZFHX3	463	broad.mit.edu	37	16	72993655	72993655	+	Silent	SNP	G	G	A	rs144573608		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:72993655G>A	ENST00000268489.5	-	2	1062	c.390C>T	c.(388-390)gcC>gcT	p.A130A	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	130					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGATCTCCCCGGCCAGGTTCT	0.706																																						ENST00000268489.5											0			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(388-390)gcC>gcT	zinc finger homeobox 3	G	,	1,4395		0,1,2197	36	39	38		,390	0.4	1	16	dbSNP_134	38	1,8599		0,1,4299	no	intron,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	,	,130/3704	72993655	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	463			muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993655G>A	D10250	D10250	CCDS10908.1, CCDS54035.1	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	777	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			104155	104155	"AT-binding transcription factor 1"	ATBF1	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	1719379, 7592926	Standard	Standard	NM_006885	NM_006885		Approved	ZNF927	uc002fck.3	uc002fck.3	Q15911	Q15911	OTTHUMG00000137599	OTTHUMG00000137599	ENST00000268489.5:c.390C>T	16.37:g.72993655G>A			ZFHX3_ENST00000397992.5_Intron	p.A130A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1062	-		Ovarian(137;0.13)	130		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.390C>T	CCDS10908.1																																																																																									0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		46.620712	12	12	76	76	NM_006885		15	46.723178	46.723178	19	0.441176	0	0	0	1	0	15	19	0.441176	A	72993655	G	A	72993655	2	1	80	1	0	0	0	0	0	0	0	1	17631	1103	39	1		1	ZFHX3	16	72993655	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	489	72993655	17361098	403	1918											
CLEC18B	497190	broad.mit.edu	37	16	74452059	74452059	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:74452059C>T	ENST00000339953.5	-	3	475	c.354G>A	c.(352-354)gcG>gcA	p.A118A		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	118	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAACAAAGGACGCCAAGCCCG	0.667																																						ENST00000339953.5											0			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(352-354)gcG>gcA	C-type lectin domain family 18, member B						57	62	60					16																	74452059		2108	4213	6321	SO:0001819	synonymous_variant	497190				extracellular region	sugar binding	g.chr16:74452059C>T	AY358373	AY358373	CCDS32484.1	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		ENSG00000140839		"C-type lectin domain containing"	"C-type lectin domain containing"	33849	33849	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001011880	NM_001011880		Approved		uc002fct.3	uc002fct.3	Q6UXF7	Q6UXF7			ENST00000339953.5:c.354G>A	16.37:g.74452059C>T				p.A118A	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			3	475	-			118	SCP.	B4DF90	Silent	SNP	ENST00000339953.5	37	c.354G>A	CCDS32484.1																																																																																									0.667	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1		28.840616	15	15	34	34	NM_001011880		10	29.457562	29.457562	19	0.344828	0	0	0	1	0	10	19	0.344828	T	74452059	C	T	74452059	2	4	80	1	0	0	0	0	0	0	0	1	3503	523	19	1		1	CLEC18B	16	74452059	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1458404	74452059	15902694	404	1919											
WDR59	79726	broad.mit.edu	37	16	74919625	74919625	+	Missense_Mutation	SNP	C	C	T	rs183855703	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:74919625C>T	ENST00000262144.6	-	25	2745	c.2615G>A	c.(2614-2616)cGt>cAt	p.R872H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	872										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAGACCCCAACGGTAGAGGAT	0.463													C|||	4	0.000798722	0	0	5008	,	,		16475	0.004		0	False		,,,				2504	0					ENST00000262144.6											0			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(2614-2616)cGt>cAt	WD repeat domain 59	C	HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	108	99	102		2615	5.4	0.9	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR59	NM_030581.3	29	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	872/975	74919625	2,12994	2198	4300	6498	SO:0001583	missense	79726						g.chr16:74919625C>T	AB067510	AB067510	CCDS32488.1	CCDS32488.1	16q22.3	2013-01-09			2013-01-09				ENSG00000103091		ENSG00000103091		"WD repeat domain containing"	"WD repeat domain containing"	25706	25706	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11572484	11572484	Standard	Standard	XM_005256146	XM_005256146		Approved	FLJ12270	uc002fdh.1	uc002fdh.1	Q6PJI9	Q6PJI9			ENST00000262144.6:c.2615G>A	16.37:g.74919625C>T	ENSP00000262144:p.Arg872His			p.R872H	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			25	2745	-			872		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.2615G>A	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128763	0.94473	2.27E-4	1.16E-4	ENSG00000103091	ENST00000262144	T	0.72051	-0.62	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.987;0.994	D	0.89098	0.3487	10	0.66056	D	0.02	-20.5611	19.0883	0.93215	0.0:1.0:0.0:0.0	.	872;317	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	H	872	ENSP00000262144:R872H	ENSP00000262144:R872H	R	-	2	0	0	WDR59	73477126	73477126	1.000000	0.71417	0.928000	0.36995	0.871000	0.50021	7.800000	0.85949	2.500000	0.84329	0.561000	0.74099	CGT		0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3		87.526536	-27	-27	53	53	NM_030581		27	87.530663	87.530663	26	0.509434	0	0	0	1	0	27	26	0.509434	T	74919625	C	T	74919625	3	4	80	1	0	0	0	0	1	0	0	0	17305	536	19	1	317	1	WDR59	16	74919625	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	467566	74919625	15435128	405	1920											
ZFP1	162239	broad.mit.edu	37	16	75203964	75203964	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:75203964C>T	ENST00000393430.2	+	4	1080	c.956C>T	c.(955-957)aCg>aTg	p.T319M	ZFP1_ENST00000332307.4_Missense_Mutation_p.T286M|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.T319M			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	319					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)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AAGATTCACACGGGGGAGAAA	0.418																																					NSCLC(187;1429 2122 10143 20357 42217)	ENST00000393430.2											0			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						c.(955-957)aCg>aTg	ZFP1 zinc finger protein						75	75	75					16																	75203964		2198	4300	6498	SO:0001583	missense	162239			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:75203964C>T	AK094761	AK094761	CCDS10914.2	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517	ENSG00000184517	ENSG00000184517		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	23328	23328	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger protein 1 homolog (mouse)", "zinc finger protein 1"		"zinc finger protein 1 homolog (mouse)", "zinc finger protein 1"			2574853	2574853	Standard	Standard	NM_153688	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	uc002fdo.3	Q6P2D0	Q6P2D0	OTTHUMG00000137602	OTTHUMG00000137602	ENST00000393430.2:c.956C>T	16.37:g.75203964C>T	ENSP00000377080:p.Thr319Met		ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.T319M|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.T286M	p.T319M			Q6P2D0	ZFP1_HUMAN			4	1080	+			319		A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	c.956C>T	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077911	0.55753	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.26373	1.74	4.42	4.42	0.53409	4.42	4.42	0.53409	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000134	T	0.53786	0.1818	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.59979	-0.7352	10	0.87932	D	0	-18.9255	15.3445	0.74324	0.0:1.0:0.0:0.0	.	319	Q6P2D0	ZFP1_HUMAN	M	319	ENSP00000377080:T319M	ENSP00000333192:T319M	T	+	2	0	0	ZFP1	73761465	73761465	0.930000	0.31532	0.970000	0.41538	0.666000	0.39218	2.042000	0.41222	2.744000	0.94065	0.655000	0.94253	ACG		0.418	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2		60.085598	-10	-10	60	60	NM_153688		20	60.985206	60.985206	35	0.363636	0	0	0	1	0	20	35	0.363636	T	75203964	C	T	75203964	3	4	80	1	0	0	0	0	1	0	0	0	17633	536	19	1	966	1	ZFP1	16	75203964	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	284339	75203964	15150789	406	1921											
TAF1C	9013	broad.mit.edu	37	16	84212998	84212998	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:84212998C>T	ENST00000567759.1	-	14	2341	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	TAF1C_ENST00000566732.1_Missense_Mutation_p.R694H|TAF1C_ENST00000378541.4_Missense_Mutation_p.R720H|TAF1C_ENST00000341690.6_Missense_Mutation_p.R626H|TAF1C_ENST00000570117.1_Missense_Mutation_p.R388H|TAF1C_ENST00000541676.1_Missense_Mutation_p.R627H	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	720					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TTCCCCCAGGCGCTCACTGAG	0.726																																						ENST00000567759.1											0			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(2158-2160)cGc>cAc	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa						20	23	22					16																	84212998		2199	4291	6490	SO:0001583	missense	9013			regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84212998C>T	L39059	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29		2008-02-05	2002-08-29			ENSG00000103168		ENSG00000103168				11534	11534	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604905	604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"		"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	7801123	Standard	Standard	NM_005679	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	uc010vnx.2	Q15572	Q15572			ENST00000567759.1:c.2159G>A	16.37:g.84212998C>T	ENSP00000455265:p.Arg720His		TAF1C_ENST00000341690.6_Missense_Mutation_p.R626H|TAF1C_ENST00000566732.1_Missense_Mutation_p.R694H|TAF1C_ENST00000570117.1_Missense_Mutation_p.R388H|TAF1C_ENST00000378541.4_Missense_Mutation_p.R720H|TAF1C_ENST00000541676.1_Missense_Mutation_p.R627H	p.R720H	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN			14	2341	-			720		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.2159G>A	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493965	0.84962	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02682	4.2;4.2;4.2	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000006	T	0.13884	0.0336	M	0.72118	2.19	0.37624	D	0.921407	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.989	T	0.00611	-1.1645	10	0.87932	D	0	-17.1242	14.0909	0.64990	0.0:1.0:0.0:0.0	.	694;243;720;626	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	H	720;627;626;243	ENSP00000367802:R720H;ENSP00000437900:R627H;ENSP00000345305:R626H	ENSP00000345305:R626H	R	-	2	0	0	TAF1C	82770499	82770499	0.002000	0.14202	0.440000	0.26846	0.858000	0.48976	0.384000	0.20668	2.390000	0.81377	0.561000	0.74099	CGC		0.726	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2		40.713912	-5	-5	37	37	NM_139353		15	40.816988	40.816988	19	0.441176	0	0	0	1	0	15	19	0.441176	T	84212998	C	T	84212998	3	4	80	1	0	0	0	0	1	0	0	0	15518	768	27	1	454	1	TAF1C	16	84212998	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9009034	84212998	6141755	407	1922											
ADAD2	161931	broad.mit.edu	37	16	84229876	84229876	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:84229876G>A	ENST00000315906.5	+	8	1478	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	ADAD2_ENST00000268624.3_Missense_Mutation_p.E558K|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	476	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GGCCCCTTCCGAACCCACCCC	0.697																																						ENST00000268624.3											0			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1672-1674)Gaa>Aaa	adenosine deaminase domain containing 2						38	46	43					16																	84229876		2197	4297	6494	SO:0001583	missense	161931			RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229876G>A	AF447586	AF447586	CCDS10944.1, CCDS45536.1	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			2007-05-31			ENSG00000140955	ENSG00000140955	ENSG00000140955	ENSG00000140955				30714	30714	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_139174	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	uc002fhr.2	Q8NCV1	Q8NCV1	OTTHUMG00000137637	OTTHUMG00000137637	ENST00000315906.5:c.1426G>A	16.37:g.84229876G>A	ENSP00000325153:p.Glu476Lys		ADAD2_ENST00000315906.5_Missense_Mutation_p.E476K|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	p.E558K	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			9	1765	+			476	A to I editase.	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1672G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	8.301	0.819980	0.16678	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93133	-3.17;-3.17	5.15	-1.94	0.07571	5.15	-1.94	0.07571	Adenosine deaminase/editase (2);	1.169020	0.06144	N	0.672863	T	0.78207	0.4247	N	0.01464	-0.85	0.09310	N	1	B;B	0.26195	0.142;0.144	B;B	0.14578	0.011;0.009	T	0.68228	-0.5464	10	0.10902	T	0.67	-11.2126	9.1316	0.36848	0.5547:0.0:0.4453:0.0	.	476;558	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	K	476;558	ENSP00000325153:E476K;ENSP00000268624:E558K	ENSP00000268624:E558K	E	+	1	0	0	ADAD2	82787377	82787377	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.435000	0.06931	-0.547000	0.06207	0.655000	0.94253	GAA		0.697	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1		13.589305	21	21	99	99	NM_139174		9	20.595369	20.595369	51	0.15	0	0	0	1	0	9	51	0.15	A	84229876	G	A	84229876	3	1	80	1	0	0	0	0	1	0	0	0	232	1059	37	1	1706	1	ADAD2	16	84229876	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	16878	84229876	6124877	408	1923											
ATP2C2	9914	broad.mit.edu	37	16	84482210	84482210	+	Silent	SNP	C	C	T	rs577350687		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:84482210C>T	ENST00000262429.4	+	17	1664	c.1575C>T	c.(1573-1575)aaC>aaT	p.N525N	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.N525N	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	525					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGTACAACAACGGGGGCATCC	0.552																																						ENST00000416219.2											0			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1573-1575)aaC>aaT	ATPase, Ca++ transporting, type 2C, member 2						78	88	84					16																	84482210		1995	4146	6141	SO:0001819	synonymous_variant	9914			ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84482210C>T	AK091051	AK091051	CCDS42207.1, CCDS67088.1	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			2010-04-20			ENSG00000064270	ENSG00000064270	ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	"ATPases / P-type"	29103	29103	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	"secretory pathway calcium ATPase 2"	613082	613082						9734811	9734811	Standard	Standard	XM_006721355	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	uc002fhx.3	O75185	O75185			ENST00000262429.4:c.1575C>T	16.37:g.84482210C>T			ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.N525N	p.N525N			O75185	AT2C2_HUMAN			17	1664	+			525		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.1575C>T	CCDS42207.1																																																																																									0.552	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1		53.308420	-15	-15	80	80	NM_014861		19	54.138082	54.138082	33	0.365385	0	0	0	1	0	19	33	0.365385	T	84482210	C	T	84482210	2	4	80	1	0	0	0	0	0	0	0	1	1144	535	19	1		1	ATP2C2	16	84482210	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	252334	84482210	5872543	409	1924											
JPH3	57338	broad.mit.edu	37	16	87723889	87723889	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:87723889C>T	ENST00000284262.2	+	4	2165	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	641					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTTGGGGGACGACCACCGCC	0.667																																						ENST00000284262.2											0			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1921-1923)gaC>gaT	junctophilin 3						10	11	11					16																	87723889		2167	4279	6446	SO:0001819	synonymous_variant	57338			calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87723889C>T	AB042636	AB042636	CCDS10962.1	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118	ENSG00000154118	ENSG00000154118				14203	14203	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605268	605268	"trinucleotide repeat containing 22"	TNRC22	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	10949023, 10891348	Standard	Standard	NM_020655	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	uc002fkd.4	Q8WXH2	Q8WXH2	OTTHUMG00000137656	OTTHUMG00000137656	ENST00000284262.2:c.1923C>T	16.37:g.87723889C>T			JPH3_ENST00000563609.1_3'UTR	p.D641D	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	4	2165	+			641		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.1923C>T	CCDS10962.1																																																																																									0.667	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2		11.499359	8	8	17	17			4	11.499359	11.499359	4	0.5	0	0	0	1	0	4	4	0.5	T	87723889	C	T	87723889	2	4	80	1	0	0	0	0	0	0	0	1	7962	535	19	1		1	JPH3	16	87723889	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3241679	87723889	2630864	410	1925											
SPG7	6687	broad.mit.edu	37	16	89614493	89614493	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:89614493C>T	ENST00000268704.2	+	12	1650	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	545			F -> L. {ECO:0000269|PubMed:16534102}.		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTCTCAACTTCGAGTACGCCG	0.627																																						ENST00000268704.2											0			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1633-1635)ttC>ttT	spastic paraplegia 7 (pure and complicated autosomal recessive)						97	87	90					16																	89614493		2198	4300	6498	SO:0001819	synonymous_variant	6687			cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89614493C>T	Y16610	Y16610	CCDS10977.1, CCDS10978.1	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912	ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	"ATPases / AAA-type"	11237	11237	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"paraplegin"	"paraplegin"	602783	602783	"cell matrix adhesion regulator"	CMAR	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	9635427, 9634528	Standard	Standard	XM_006721264	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	uc002fnj.3	Q9UQ90	Q9UQ90	OTTHUMG00000138046	OTTHUMG00000138046	ENST00000268704.2:c.1635C>T	16.37:g.89614493C>T				p.F545F	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	12	1650	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	545		O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1635C>T	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047297	0.19827	.	.	ENSG00000197912	ENST00000312613	.	.	.	5.47	-5.4	0.02656	5.47	-5.4	0.02656	.	.	.	.	.	T	0.66036	0.2749	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71922	-0.4446	5	0.87932	D	0	-0.0792	10.9495	0.47321	0.0:0.1874:0.0991:0.7135	.	.	.	.	L	20	.	ENSP00000310320:S20L	S	+	2	0	0	SPG7	88141994	88141994	0.084000	0.21492	0.873000	0.34254	0.599000	0.36880	-0.747000	0.04823	-0.750000	0.04740	0.561000	0.74099	TCG		0.627	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2		33.314643	-20	-20	81	81	NM_003119		14	38.766676	38.766676	54	0.205882	0	0	0	1	0	14	54	0.205882	T	89614493	C	T	89614493	2	4	80	1	0	0	0	0	0	0	0	1	15043	883	31	1		1	SPG7	16	89614493	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1890604	89614493	740260	411	1926											
PRPF8	10594	broad.mit.edu	37	17	1559772	1559772	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:1559772C>T	ENST00000572621.1	-	35	5972	c.5707G>A	c.(5707-5709)Ggg>Agg	p.G1903R	PRPF8_ENST00000304992.6_Missense_Mutation_p.G1903R|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1903	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGAGATCCCCGAATTTTTCC	0.483																																						ENST00000572621.1											0			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5707-5709)Ggg>Agg	pre-mRNA processing factor 8						118	114	115					17																	1559772		2203	4300	6503	SO:0001583	missense	10594				catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1559772C>T	AB007510	AB007510	CCDS11010.1	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231	ENSG00000174231	ENSG00000174231				17340	17340	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607300	607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	11468273, 10411133	Standard	Standard	NM_006445	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	uc002fte.3	Q6P2Q9	Q6P2Q9	OTTHUMG00000090553	OTTHUMG00000090553	ENST00000572621.1:c.5707G>A	17.37:g.1559772C>T	ENSP00000460348:p.Gly1903Arg		PRPF8_ENST00000304992.6_Missense_Mutation_p.G1903R	p.G1903R			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	35	5972	-			1903	Involved in interaction with pre-mRNA 5' splice site.	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.5707G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	32	5.127265	0.94473	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	T	0.81330	-1.48	5.62	5.62	0.85841	5.62	5.62	0.85841	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91144	0.4948	10	0.59425	D	0.04	-13.6657	19.645	0.95773	0.0:1.0:0.0:0.0	.	1903	Q6P2Q9	PRP8_HUMAN	R	1903;428	ENSP00000304350:G1903R	ENSP00000304350:G1903R	G	-	1	0	0	PRPF8	1506522	1506522	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.818000	0.86416	2.647000	0.89833	0.655000	0.94253	GGG		0.483	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		29.999430	-12	-12	78	78			13	35.804379	35.804379	54	0.19403	0	0	0	1	0	13	54	0.19403	T	1559772	C	T	1559772	3	4	80	1	0	0	0	0	1	0	0	0	12575	652	23	1	1332	1	PRPF8	17	1559772	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		1559772	79635438	412	1927											
EIF5A	1984	broad.mit.edu	37	17	7213113	7213113	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7213113C>T	ENST00000336458.8	+	2	560	c.159C>T	c.(157-159)caC>caT	p.H53H	EIF5A_ENST00000573542.1_Silent_p.H53H|EIF5A_ENST00000416016.2_Silent_p.H53H|EIF5A_ENST00000419711.2_Silent_p.H53H|EIF5A_ENST00000336452.7_Silent_p.H83H|EIF5A_ENST00000572815.1_Silent_p.H53H|EIF5A_ENST00000576930.1_Silent_p.H53H|EIF5A_ENST00000571955.1_Silent_p.H53H	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	53	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						AGCACGGCCACGCCAAGGTTA	0.527																																						ENST00000336458.8											0			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(157-159)caC>caT	eukaryotic translation initiation factor 5A						133	117	122					17																	7213113		2203	4300	6503	SO:0001819	synonymous_variant	1984			induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7213113C>T			CCDS11099.1, CCDS45601.1	CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			2009-05-01			ENSG00000132507	ENSG00000132507	ENSG00000132507	ENSG00000132507				3300	3300	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600187	600187						7759117	7759117	Standard	Standard	NM_001143760	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	uc002gfr.3	P63241	P63241	OTTHUMG00000102197	OTTHUMG00000102197	ENST00000336458.8:c.159C>T	17.37:g.7213113C>T			EIF5A_ENST00000419711.2_Silent_p.H53H|EIF5A_ENST00000573542.1_Silent_p.H53H|EIF5A_ENST00000336452.7_Silent_p.H83H|EIF5A_ENST00000416016.2_Silent_p.H53H|EIF5A_ENST00000571955.1_Silent_p.H53H|EIF5A_ENST00000576930.1_Silent_p.H53H|EIF5A_ENST00000572815.1_Silent_p.H53H	p.H53H	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			2	560	+			53	DOHH-binding.	A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Silent	SNP	ENST00000336458.8	37	c.159C>T	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243257	0.22796	.	.	ENSG00000132507	ENST00000355068	.	.	.	4.55	-5.91	0.02269	4.55	-5.91	0.02269	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.80722	D	1	B	0.24186	0.099	B	0.17098	0.017	T	0.17684	-1.0361	7	0.87932	D	0	-17.9213	13.8611	0.63561	0.0:0.5405:0.0:0.4595	.	51	F5H5Z4	.	M	51	.	ENSP00000347180:T51M	T	+	2	0	0	EIF5A	7153837	7153837	0.699000	0.27786	0.948000	0.38648	0.987000	0.75469	-0.258000	0.08733	-1.174000	0.02754	-0.362000	0.07510	ACG		0.527	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3		2.836141	-18	-18	73	73	NM_001970		5	11.854012	11.854012	49	0.092593	0	0	0	1	0	5	49	0.092593	T	7213113	C	T	7213113	2	4	80	1	0	0	0	0	0	0	0	1	5041	535	19	1		1	EIF5A	17	7213113	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5653341	7213113	73982097	413	1928											
FXR2	9513	broad.mit.edu	37	17	7499190	7499190	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7499190G>A	ENST00000250113.7	-	8	1117	c.783C>T	c.(781-783)acC>acT	p.T261T		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	261	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACTCAATGGCGGTCACCCCAG	0.547																																						ENST00000250113.7											0			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(781-783)acC>acT	fragile X mental retardation, autosomal homolog 2						87	87	87					17																	7499190		1980	4161	6141	SO:0001819	synonymous_variant	9513				cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7499190G>A	U31501	U31501	CCDS45604.1	CCDS45604.1	17p13.3	2014-09-17			2014-09-17				ENSG00000129245		ENSG00000129245				4024	4024	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605339	605339		FMR1L2		FMR1L2		7489725, 9259278	7489725, 9259278	Standard	Standard	NM_004860	NM_004860		Approved		uc002gia.2	uc002gia.2	P51116	P51116			ENST00000250113.7:c.783C>T	17.37:g.7499190G>A				p.T261T	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	8	1117	-			261	KH 1.	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.783C>T	CCDS45604.1																																																																																									0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		19.145113	-30	-30	57	57			9	24.174684	24.174684	42	0.176471	0	0	0	1	0	9	42	0.176471	A	7499190	G	A	7499190	2	1	80	1	0	0	0	0	0	0	0	1	6116	1103	39	1		1	FXR2	17	7499190	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	286077	7499190	73696020	414	1929											
DNAH2	146754	broad.mit.edu	37	17	7696114	7696114	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7696114G>A	ENST00000572933.1	+	47	8745	c.7285G>A	c.(7285-7287)Gtt>Att	p.V2429I	DNAH2_ENST00000389173.2_Missense_Mutation_p.V2429I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2429	AAA 3. {ECO:0000250}.				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)	p.V2429L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGCCCAGAGCGTTCTGCAGTC	0.632																																						ENST00000572933.1											1	Substitution - Missense(1)	lung(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7285-7287)Gtt>Att	dynein, axonemal, heavy chain 2						74	67	69					17																	7696114		2203	4300	6503	SO:0001583	missense	146754			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696114G>A	U83570, AK128517	U83570, AK128517	CCDS32551.1	CCDS32551.1	17p13.1	2007-10-05	2006-09-04		2007-10-05	2006-09-04			ENSG00000183914		ENSG00000183914		"Axonemal dyneins"	"Axonemal dyneins"	2948	2948	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603333	603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	9256245	Standard	Standard	XM_005256470	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	uc002giu.1	Q9P225	Q9P225			ENST00000572933.1:c.7285G>A	17.37:g.7696114G>A	ENSP00000458355:p.Val2429Ile		DNAH2_ENST00000389173.2_Missense_Mutation_p.V2429I	p.V2429I			Q9P225	DYH2_HUMAN			47	8745	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2429	AAA 3 (By similarity).	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7285G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726781	0.69074	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.17054	2.3	5.47	5.47	0.80525	5.47	5.47	0.80525	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.21227	0.0511	L	0.61218	1.895	0.80722	D	1	P	0.46142	0.873	B	0.39590	0.304	T	0.02691	-1.1123	10	0.27785	T	0.31	.	18.1078	0.89526	0.0:0.0:1.0:0.0	.	2429	Q9P225	DYH2_HUMAN	I	2429	ENSP00000373825:V2429I	ENSP00000353818:V2429I	V	+	1	0	0	DNAH2	7636839	7636839	1.000000	0.71417	0.946000	0.38457	0.785000	0.44390	5.842000	0.69417	2.573000	0.86826	0.643000	0.83706	GTT		0.632	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		26.536550	2	2	64	64	NM_020877		10	28.134896	28.134896	26	0.277778	0	0	0	1	0	10	26	0.277778	A	7696114	G	A	7696114	3	1	80	1	0	0	0	0	1	0	0	0	4602	1145	40	1	7467	1	DNAH2	17	7696114	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	196924	7696114	73499096	415	1930											
CNTROB	116840	broad.mit.edu	37	17	7852791	7852791	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7852791C>T	ENST00000563694.1	+	19	3600	c.2675C>T	c.(2674-2676)cCg>cTg	p.P892L	CNTROB_ENST00000380262.3_Missense_Mutation_p.P914L|CNTROB_ENST00000565740.1_Missense_Mutation_p.P893L|CNTROB_ENST00000380255.3_3'UTR	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	892	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CACCCTGCCCCGAGTAGCATG	0.547																																						ENST00000380262.3											0			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2740-2742)cCg>cTg	centrobin, centrosomal BRCA2 interacting protein						41	48	46					17																	7852791		2202	4300	6502	SO:0001583	missense	116840			centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7852791C>T	AF331638	AF331638	CCDS32557.1, CCDS11126.1	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15			2006-03-15				ENSG00000170037		ENSG00000170037				29616	29616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"centrobin"	"centrobin"	611425	611425						11984006, 16275750	11984006, 16275750	Standard	Standard	NM_001037144	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	uc002gjp.3	Q8N137	Q8N137			ENST00000563694.1:c.2675C>T	17.37:g.7852791C>T	ENSP00000456335:p.Pro892Leu		CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.P893L|CNTROB_ENST00000563694.1_Missense_Mutation_p.P892L	p.P914L	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			19	3666	+		Prostate(122;0.173)	892		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.2741C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627324	0.28978	.	.	ENSG00000170037	ENST00000380262	T	0.55760	0.5	5.91	4.94	0.65067	5.91	4.94	0.65067	.	0.119584	0.38548	N	0.001659	T	0.41003	0.1140	L	0.29908	0.895	0.39839	D	0.97308	B;B;B	0.17667	0.006;0.023;0.023	B;B;B	0.12156	0.007;0.007;0.007	T	0.38373	-0.9664	10	0.87932	D	0	-7.9452	10.9623	0.47393	0.0:0.9143:0.0:0.0857	.	893;892;914	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	L	914	ENSP00000369614:P914L	ENSP00000369614:P914L	P	+	2	0	0	CNTROB	7793516	7793516	0.034000	0.19679	0.059000	0.19551	0.037000	0.13140	2.110000	0.41873	1.501000	0.48654	0.655000	0.94253	CCG		0.547	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1		-3.247132	-12	-12	70	70	NM_053051		3	6.537677	6.537677	46	0.061224	0	0	0	1	0	3	46	0.061224	T	7852791	C	T	7852791	3	4	80	1	0	0	0	0	1	0	0	0	3651	652	23	1	2815	1	CNTROB	17	7852791	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	156677	7852791	73342419	416	1931											
ARHGEF15	22899	broad.mit.edu	37	17	8221893	8221893	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:8221893C>T	ENST00000361926.3	+	11	1895	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Silent_p.I595I	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	595	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I595I(2)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTAGATCATCGAGCGTTGCA	0.597																																						ENST00000361926.3											2	Substitution - coding silent(2)	lung(2)	breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1783-1785)atC>atT	Rho guanine nucleotide exchange factor (GEF) 15						59	59	59					17																	8221893		2203	4300	6503	SO:0001819	synonymous_variant	22899			negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8221893C>T	AB020722	AB020722	CCDS11139.1	CCDS11139.1	17p13.1	2011-11-16			2011-11-16			ENSG00000198844	ENSG00000198844	ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	"Rho guanine nucleotide exchange factors"	15590	15590	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	"Rho guanine exchange factor (GEF) 15"	608504	608504						10048485	10048485	Standard	Standard	NM_173728	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	uc002glc.3	O94989	O94989	OTTHUMG00000108187	OTTHUMG00000108187	ENST00000361926.3:c.1785C>T	17.37:g.8221893C>T			ARHGEF15_ENST00000421050.1_Silent_p.I595I|AC135178.7_ENST00000458568.1_RNA	p.I595I	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			11	1895	+			595	DH.	A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.1785C>T	CCDS11139.1																																																																																									0.597	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2		25.601762	-22	-22	27	27	NM_173728		8	25.664104	25.664104	6	0.571429	0	0	0	1	0	8	6	0.571429	T	8221893	C	T	8221893	2	4	80	1	0	0	0	0	0	0	0	1	898	874	31	1		1	ARHGEF15	17	8221893	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	369102	8221893	72973317	417	1932											
WDR16	146845	broad.mit.edu	37	17	9532119	9532119	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:9532119G>A	ENST00000352665.5	+	9	1225	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	WDR16_ENST00000299764.5_Missense_Mutation_p.G396S|WDR16_ENST00000396219.3_Missense_Mutation_p.G318S	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CATGAGGGACGGCAAAAGCAT	0.522																																						ENST00000352665.5											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1156-1158)Ggc>Agc	WD repeat domain 16						137	103	115					17																	9532119		2203	4300	6503	SO:0001583	missense	146845				cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9532119G>A	AB065281	AB065281	CCDS11149.2, CCDS42262.1	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			2014-08-01			ENSG00000166596	ENSG00000166596	ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	"WD repeat domain containing"	16053	16053	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	"WD40-repeat protein upregulated in HCC"	609804	609804						15967112	15967112	Standard	Standard	NM_001080556	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	uc002gly.3	Q8N1V2	Q8N1V2	OTTHUMG00000150149	OTTHUMG00000150149	ENST00000352665.5:c.1156G>A	17.37:g.9532119G>A	ENSP00000339449:p.Gly386Ser		WDR16_ENST00000299764.5_Missense_Mutation_p.G396S|WDR16_ENST00000396219.3_Missense_Mutation_p.G318S	p.G386S	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			9	1225	+			386			Missense_Mutation	SNP	ENST00000352665.5	37	c.1156G>A	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	G	32	5.156536	0.94686	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.56611	0.45;2.35;1.91	5.64	5.64	0.86602	5.64	5.64	0.86602	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	T	0.76716	0.4026	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79235	-0.1887	10	0.59425	D	0.04	-24.8957	18.4726	0.90779	0.0:0.0:1.0:0.0	.	396;318;386	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	S	386;318;396	ENSP00000339449:G386S;ENSP00000379521:G318S;ENSP00000299764:G396S	ENSP00000299764:G396S	G	+	1	0	0	WDR16	9472844	9472844	1.000000	0.71417	0.966000	0.40874	0.829000	0.46940	9.250000	0.95477	2.637000	0.89404	0.563000	0.77884	GGC		0.522	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2		29.972805	0	0	81	81	NM_145054		12	33.614731	33.614731	41	0.226415	0	0	0	1	0	12	41	0.226415	A	9532119	G	A	9532119	3	1	80	1	0	0	0	0	1	0	0	0	17273	1116	39	1	1190	1	WDR16	17	9532119	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1310226	9532119	71663091	418	1933											
MED9	55090	broad.mit.edu	37	17	17394702	17394702	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:17394702G>A	ENST00000268711.3	+	2	390	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	112						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E112K(1)		cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTGAGCCCCGAACAGCAGCA	0.582																																						ENST00000268711.3											1	Substitution - Missense(1)	endometrium(1)	cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(334-336)Gaa>Aaa	mediator complex subunit 9						81	78	79					17																	17394702		2203	4300	6503	SO:0001583	missense	55090			regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394702G>A	BC000647	BC000647	CCDS11184.1	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026	ENSG00000141026	ENSG00000141026				25487	25487	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609878	609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"		"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	11997338	Standard	Standard	NM_018019	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	uc002grh.1	Q9NWA0	Q9NWA0	OTTHUMG00000059293	OTTHUMG00000059293	ENST00000268711.3:c.334G>A	17.37:g.17394702G>A	ENSP00000268711:p.Glu112Lys			p.E112K	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	390	+			112			Missense_Mutation	SNP	ENST00000268711.3	37	c.334G>A	CCDS11184.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033615	0.93575	.	.	ENSG00000141026	ENST00000268711	.	.	.	4.71	4.71	0.59529	4.71	4.71	0.59529	.	0.189070	0.44902	D	0.000401	T	0.63733	0.2536	M	0.78637	2.42	0.80722	D	1	D	0.53151	0.958	P	0.44597	0.454	T	0.72877	-0.4159	9	0.72032	D	0.01	-33.7092	16.8296	0.85940	0.0:0.0:1.0:0.0	.	112	Q9NWA0	MED9_HUMAN	K	112	.	ENSP00000268711:E112K	E	+	1	0	0	MED9	17335427	17335427	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.734000	0.68580	2.448000	0.82819	0.655000	0.94253	GAA		0.582	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2		78.172852	-1	-1	102	102	NM_018019		25	78.189528	78.189528	27	0.480769	0	0	0	1	0	25	27	0.480769	A	17394702	G	A	17394702	3	1	80	1	0	0	0	0	1	0	0	0	9454	1059	37	1	340	1	MED9	17	17394702	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7862583	17394702	63800508	419	1934											
MAP2K3	5606	broad.mit.edu	37	17	21201792	21201792	+	Splice_Site	SNP	G	G	A	rs368105298		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:21201792G>A	ENST00000342679.4	+	2	365		c.e2+1		MAP2K3_ENST00000361818.5_Splice_Site|MAP2K3_ENST00000316920.6_Splice_Site	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3						activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAACCCCACGTGAGTCTGCC	0.577																																						ENST00000342679.4											0										c.e2+1	mitogen-activated protein kinase kinase 3	G	,	1,4405		0,1,2202	202	174	183		,	5.7	1	17		183	0,8600		0,0,4300	no	splice-5,splice-5	MAP2K3	NM_002756.4,NM_145109.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,	21201792	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5606			activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21201792G>A	L36719	L36719	CCDS11217.1, CCDS11218.1	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			2011-06-09			ENSG00000034152	ENSG00000034152	ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	6843	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315	602315		PRKMK3		PRKMK3		9465908	9465908	Standard	Standard	NM_145109	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	uc002gys.3	P46734	P46734	OTTHUMG00000134322	OTTHUMG00000134322	ENST00000342679.4:c.116+1G>A	17.37:g.21201792G>A			MAP2K3_ENST00000316920.6_Splice_Site|MAP2K3_ENST00000361818.5_Splice_Site		NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	2	365	+					B3KSK7|Q99441|Q9UE71|Q9UE72	Splice_Site	SNP	ENST00000342679.4	37		CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353219	0.82132	2.27E-4	0.0	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	.	.	.	5.67	5.67	0.87782	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8621	0.86021	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MAP2K3	21142385	21142385	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.020000	0.49643	2.837000	0.97791	0.655000	0.94253	.		0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2		36.877828	-53	-53	148	148	NM_145109	Intron	18	46.325124	46.325124	81	0.181818	0	0	0	1	0	18	81	0.181818	A	21201792	G	A	21201792	5	1	80	1	0	0	0	0	0	0	1	0	9238	1159	40	1	123	1	MAP2K3	17	21201792	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3807090	21201792	59993418	420	1935											
SPAG5	10615	broad.mit.edu	37	17	26912882	26912882	+	Splice_Site	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:26912882C>T	ENST00000321765.5	-	7	2072	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	580	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTCACCTTACCGCATCCTTGC	0.498																																						ENST00000321765.5											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1738-1740)gcG>gcA	sperm associated antigen 5						218	191	200					17																	26912882		2203	4300	6503	SO:0001630	splice_region_variant	10615			cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26912882C>T	AF063308	AF063308	CCDS32594.1	CCDS32594.1	17q11.2	2008-07-18			2008-07-18			ENSG00000076382	ENSG00000076382	ENSG00000076382	ENSG00000076382				13452	13452	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562	615562						11549262	11549262	Standard	Standard	NM_006461	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	uc002hbq.3	Q96R06	Q96R06	OTTHUMG00000166586	OTTHUMG00000166586	ENST00000321765.5:c.1740+1G>A	17.37:g.26912882C>T				p.A580A	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			7	2072	-	Lung NSC(42;0.00431)		580		O95213|Q9BWE8|Q9NT17|Q9UFE6	Splice_Site	SNP	ENST00000321765.5	37	c.1740G>A	CCDS32594.1																																																																																									0.498	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2		51.090374	-11	-11	150	150	NM_006461	Silent	22	60.501473	60.501473	89	0.198198	0	0	0	1	0	22	89	0.198198	T	26912882	C	T	26912882	5	4	80	1	0	0	0	0	0	0	1	0	14981	666	23	1	1913	1	SPAG5	17	26912882	Splice_Site	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5711090	26912882	54282328	421	1936											
NUFIP2	57532	broad.mit.edu	37	17	27613317	27613317	+	Silent	SNP	G	G	A	rs150088850		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:27613317G>A	ENST00000225388.4	-	2	1753	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	565						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y565Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TCTCCAGCTCGTAAGCCTTGG	0.463																																						ENST00000225388.4											1	Substitution - coding silent(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(1693-1695)taC>taT	nuclear fragile X mental retardation protein interacting protein 2	G		0,4406		0,0,2203	85	84	84		1695	4.9	1	17	dbSNP_134	84	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NUFIP2	NM_020772.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		565/696	27613317	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57532				nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613317G>A	AB037742	AB037742	CCDS32600.1	CCDS32600.1	17q11.1	2006-03-01			2006-03-01				ENSG00000108256		ENSG00000108256				17634	17634	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609356	609356						12837692, 16407062	12837692, 16407062	Standard	Standard	NM_020772	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	uc002hdy.4	Q7Z417	Q7Z417			ENST00000225388.4:c.1695C>T	17.37:g.27613317G>A			NUFIP2_ENST00000579665.1_Intron	p.Y565Y	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1753	-			565		A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	c.1695C>T	CCDS32600.1																																																																																									0.463	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2		39.062160	3	3	83	83	NM_020772		16	43.982203	43.982203	55	0.225352	0	0	0	1	0	16	55	0.225352	A	27613317	G	A	27613317	2	1	80	1	0	0	0	0	0	0	0	1	10749	1140	40	1		1	NUFIP2	17	27613317	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	700435	27613317	53581893	422	1937											
GIT1	28964	broad.mit.edu	37	17	27902157	27902157	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:27902157G>A	ENST00000225394.3	-	19	2261	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	GIT1_ENST00000394869.3_Silent_p.F680F|GIT1_ENST00000581348.1_Silent_p.F657F|GIT1_ENST00000579937.1_Silent_p.F671F|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	671	Interaction with PXN and TGFB1I1. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AGCAGGGCACGAAGCTGCGGG	0.607																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3											0			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(2011-2013)ttC>ttT	G protein-coupled receptor kinase interacting ArfGAP 1						69	70	70					17																	27902157		2203	4300	6503	SO:0001819	synonymous_variant	28964			regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27902157G>A	AF124490	AF124490	CCDS11250.1, CCDS42290.1	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262	ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	4272	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608434	608434	"G protein-coupled receptor kinase interactor 1"		"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	9826657, 10896954	Standard	Standard	NM_014030	NM_014030		Approved		uc002heg.2	uc002heg.2	Q9Y2X7	Q9Y2X7	OTTHUMG00000132730	OTTHUMG00000132730	ENST00000225394.3:c.2013C>T	17.37:g.27902157G>A			GIT1_ENST00000579937.1_Silent_p.F671F|GIT1_ENST00000394869.3_Silent_p.F680F|GIT1_ENST00000581348.1_Silent_p.F657F|RP11-68I3.2_ENST00000581474.1_RNA	p.F671F	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	19	2261	-			671	Interaction with PXN and TGFB1I1 (By similarity).	B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Silent	SNP	ENST00000225394.3	37	c.2013C>T	CCDS11250.1																																																																																									0.607	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1		45.886716	4	4	78	78	NM_014030		16	46.826616	46.826616	30	0.347826	0	0	0	1	0	16	30	0.347826	A	27902157	G	A	27902157	2	1	80	1	0	0	0	0	0	0	0	1	6396	1049	37	1		1	GIT1	17	27902157	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	288840	27902157	53293053	423	1938											
GIT1	28964	broad.mit.edu	37	17	27903361	27903361	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:27903361G>A	ENST00000225394.3	-	14	1736	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	GIT1_ENST00000394869.3_Silent_p.G505G|GIT1_ENST00000581348.1_Silent_p.G505G|GIT1_ENST00000579937.1_Silent_p.G496G|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	496					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GTGTGCTCCCGCCTGGCGCCA	0.677																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3											0			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1486-1488)ggC>ggT	G protein-coupled receptor kinase interacting ArfGAP 1						61	71	68					17																	27903361		2203	4300	6503	SO:0001819	synonymous_variant	28964			regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903361G>A	AF124490	AF124490	CCDS11250.1, CCDS42290.1	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262	ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	4272	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608434	608434	"G protein-coupled receptor kinase interactor 1"		"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	9826657, 10896954	Standard	Standard	NM_014030	NM_014030		Approved		uc002heg.2	uc002heg.2	Q9Y2X7	Q9Y2X7	OTTHUMG00000132730	OTTHUMG00000132730	ENST00000225394.3:c.1488C>T	17.37:g.27903361G>A			GIT1_ENST00000579937.1_Silent_p.G496G|GIT1_ENST00000394869.3_Silent_p.G505G|GIT1_ENST00000581348.1_Silent_p.G505G|RP11-68I3.2_ENST00000581474.1_RNA	p.G496G	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	14	1736	-			496		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Silent	SNP	ENST00000225394.3	37	c.1488C>T	CCDS11250.1																																																																																									0.677	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1		7.319179	-10	-10	100	100	NM_014030		6	14.398425	14.398425	44	0.12	0	0	0	1	0	6	44	0.12	A	27903361	G	A	27903361	2	1	80	1	0	0	0	0	0	0	0	1	6396	1074	38	1		1	GIT1	17	27903361	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1204	27903361	53291849	424	1939											
CSF3	1440	broad.mit.edu	37	17	38173107	38173107	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:38173107C>T	ENST00000225474.2	+	5	550	c.519C>T	c.(517-519)ttC>ttT	p.F173F	CSF3_ENST00000331769.2_Silent_p.F166F|CSF3_ENST00000394149.3_Silent_p.F170F|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394148.3_Silent_p.F137F|CSF3_ENST00000577675.1_Silent_p.F130F			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	173					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				TGCCGGCCTTCGCCTCTGCTT	0.647																																						ENST00000331769.2											0			endometrium(1)|ovary(1)|prostate(1)	3						c.(496-498)ttC>ttT	colony stimulating factor 3 (granulocyte)						52	50	50					17																	38173107		2203	4300	6503	SO:0001819	synonymous_variant	1440			cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38173107C>T			CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			2014-01-30			ENSG00000108342	ENSG00000108342	ENSG00000108342	ENSG00000108342		"Endogenous ligands"	"Endogenous ligands"	2438	2438	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"granulocyte colony stimulating factor", "pluripoietin", "filgrastim", "lenograstim"	"granulocyte colony stimulating factor", "pluripoietin", "filgrastim", "lenograstim"	138970	138970	"chromosome 17 open reading frame 33"	GCSF, G-CSF, C17orf33	"chromosome 17 open reading frame 33"	GCSF, G-CSF, C17orf33		3499671, 3501046	3499671, 3501046	Standard	Standard	NM_000759	NM_000759		Approved	MGC45931	uc002htp.3	uc002htp.3	P09919	P09919	OTTHUMG00000133247	OTTHUMG00000133247	ENST00000225474.2:c.519C>T	17.37:g.38173107C>T			CSF3_ENST00000225474.2_Silent_p.F173F|CSF3_ENST00000394149.3_Silent_p.F170F|CSF3_ENST00000577675.1_Silent_p.F130F|CSF3_ENST00000394148.3_Silent_p.F137F	p.F166F			P09919	CSF3_HUMAN			4	714	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	173		A8MXR7	Silent	SNP	ENST00000225474.2	37	c.498C>T	CCDS11357.1																																																																																									0.647	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2		4.542340	-7	-7	48	48	NM_172220		5	11.520914	11.520914	41	0.108696	0	0	0	1	0	5	41	0.108696	T	38173107	C	T	38173107	2	4	80	1	0	0	0	0	0	0	0	1	3936	883	31	1		1	CSF3	17	38173107	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10269746	38173107	43022103	425	1940											
CASC3	22794	broad.mit.edu	37	17	38320407	38320407	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:38320407C>T	ENST00000264645.7	+	7	1685	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	487	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCTGCAACCACGGGAACTTCG	0.493																																						ENST00000264645.7											0			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1459-1461)Cgg>Tgg	cancer susceptibility candidate 3						32	30	31					17																	38320407		2203	4300	6503	SO:0001583	missense	22794			mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38320407C>T	X80199	X80199	CCDS11362.1	CCDS11362.1	17q21.1	2012-09-20			2012-09-20			ENSG00000108349	ENSG00000108349	ENSG00000108349	ENSG00000108349				17040	17040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606504	606504						7490069, 18332872	7490069, 18332872	Standard	Standard	NM_007359	NM_007359		Approved	MLN51, BTZ	uc002hue.3	uc002hue.3	O15234	O15234	OTTHUMG00000133323	OTTHUMG00000133323	ENST00000264645.7:c.1459C>T	17.37:g.38320407C>T	ENSP00000264645:p.Arg487Trp			p.R487W	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			7	1685	+			487	Necessary for localization in cytoplasmic stress granules.	A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1459C>T	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320969	0.23994	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.08	4.06	0.47325	5.08	4.06	0.47325	.	0.094683	0.46758	D	0.000274	T	0.60689	0.2288	N	0.14661	0.345	0.44946	D	0.997969	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.67964	-0.5534	9	0.87932	D	0	-14.6551	15.8446	0.78876	0.1447:0.8553:0.0:0.0	.	487;487	B4DKR6;O15234	.;CASC3_HUMAN	W	487	.	ENSP00000264645:R487W	R	+	1	2	2	CASC3	35573933	35573933	0.998000	0.40836	0.983000	0.44433	0.930000	0.56654	3.419000	0.52728	2.648000	0.89879	0.563000	0.77884	CGG		0.493	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3		12.398752	11	11	28	28	NM_007359		4	12.485969	12.485969	6	0.4	0	0	0	1	0	4	6	0.4	T	38320407	C	T	38320407	3	4	80	1	0	0	0	0	1	0	0	0	2661	527	19	1	1485	1	CASC3	17	38320407	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	147300	38320407	42874803	426	1941											
KAT2A	2648	broad.mit.edu	37	17	40271407	40271407	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:40271407C>T	ENST00000225916.5	-	6	982	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	310					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGTTTCGTAGCGGGGGAGGCT	0.587																																						ENST00000225916.5											0			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(928-930)cGc>cAc	K(lysine) acetyltransferase 2A						100	97	98					17																	40271407		2203	4300	6503	SO:0001583	missense	2648			chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40271407C>T	AF029777	AF029777	CCDS11417.1	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	"Chromatin-modifying enzymes / K-acetyltransferases"	4201	4201	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602301	602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	8552087	Standard	Standard	NM_021078	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	uc002hyx.2	Q92830	Q92830	OTTHUMG00000133504	OTTHUMG00000133504	ENST00000225916.5:c.929G>A	17.37:g.40271407C>T	ENSP00000225916:p.Arg310His			p.R310H	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			6	982	-			310		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.929G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173070	0.38413	.	.	ENSG00000108773	ENST00000225916	T	0.05199	3.48	4.69	3.71	0.42584	4.69	3.71	0.42584	PCAF, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05181	0.0138	N	0.20766	0.605	0.58432	D	0.999999	B	0.24675	0.109	B	0.27076	0.076	T	0.42430	-0.9452	10	0.17832	T	0.49	-18.4484	14.3531	0.66716	0.1492:0.8508:0.0:0.0	.	310	Q92830	KAT2A_HUMAN	H	310	ENSP00000225916:R310H	ENSP00000225916:R310H	R	-	2	0	0	KAT2A	37524933	37524933	1.000000	0.71417	0.824000	0.32777	0.855000	0.48748	7.651000	0.83577	1.198000	0.43158	0.555000	0.69702	CGC		0.587	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1		86.866145	-20	-20	106	106	NM_021078		29	86.922493	86.922493	33	0.467742	0	0	0	1	0	29	33	0.467742	T	40271407	C	T	40271407	3	4	80	1	0	0	0	0	1	0	0	0	7981	768	27	1	1636	1	KAT2A	17	40271407	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1951000	40271407	40923803	427	1942											
HSD17B1	3292	broad.mit.edu	37	17	40706497	40706497	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:40706497T>C	ENST00000585807.1	+	5	4334	c.614T>C	c.(613-615)cTg>cCg	p.L205P	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.L206P|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	205					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GAGGAGGTGCTGGACCGCACG	0.637																																						ENST00000585807.1											0			NS(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(613-615)cTg>cCg	hydroxysteroid (17-beta) dehydrogenase 1						61	47	52					17																	40706497		2203	4300	6503	SO:0001583	missense	3292			estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40706497T>C			CCDS11428.1	CCDS11428.1	17q11-q21	2011-09-14			2011-09-14							1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	5210	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684	109684		EDHB17, EDH17B2		EDHB17, EDH17B2		2330005, 19027726	2330005, 19027726	Standard	Standard	NM_000413	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	uc002hzw.3	P14061	P14061			ENST00000585807.1:c.614T>C	17.37:g.40706497T>C	ENSP00000466799:p.Leu205Pro		RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.L206P|RP11-400F19.6_ENST00000590513.1_RNA	p.L205P	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	5	4334	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	205		B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	c.614T>C	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500208	0.64298	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.32	4.32	0.51571	4.32	4.32	0.51571	NAD(P)-binding domain (1);	0.562171	0.17562	N	0.169795	T	0.66519	0.2797	M	0.62723	1.935	0.58432	D	0.999998	D;P	0.59357	0.985;0.709	P;B	0.58266	0.836;0.147	T	0.66280	-0.5963	9	0.46703	T	0.11	.	9.7863	0.40677	0.0:0.0:0.0:1.0	.	236;205	B3RFR9;P14061	.;DHB1_HUMAN	P	205	.	ENSP00000225929:L205P	L	+	2	0	0	HSD17B1	37960023	37960023	1.000000	0.71417	0.491000	0.27477	0.050000	0.14768	3.004000	0.49513	1.830000	0.53286	0.402000	0.26972	CTG		0.637	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1		36.831545	5	5	29	29	NM_000413		11	37.333465	37.333465	5	0.6875	0	0	0	1	0	11	5	0.6875	C	40706497	T	C	40706497	3	2	80	1	0	0	0	0	1	0	0	0	7378	1580	55	4	632	4	HSD17B1	17	40706497	Missense_Mutation	SNP	T	TCGA-YZ-A985-01A-11D-A39W-08	435090	40706497	40488713	428	1943											
HDAC5	10014	broad.mit.edu	37	17	42162392	42162392	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:42162392C>T	ENST00000393622.2	-	15	2513	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	HDAC5_ENST00000225983.6_Missense_Mutation_p.E729K|HDAC5_ENST00000336057.5_Intron|HDAC5_ENST00000586802.1_Missense_Mutation_p.E728K	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	728	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCCCTTACCTCGCACTTGCTA	0.552																																						ENST00000225983.6											0			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2185-2187)Gag>Aag	histone deacetylase 5						76	69	71					17																	42162392		2203	4300	6503	SO:0001583	missense	10014			B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42162392C>T	AF249731	AF249731	CCDS32663.1, CCDS45696.1	CCDS32663.1, CCDS45696.1	17q21	2008-07-18			2008-07-18							3.5.1.98			14068	14068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605315	605315						10220385, 9610721	10220385, 9610721	Standard	Standard	XM_005256905	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	uc002iff.1	Q9UQL6	Q9UQL6			ENST00000393622.2:c.2182G>A	17.37:g.42162392C>T	ENSP00000377244:p.Glu728Lys		HDAC5_ENST00000586802.1_Missense_Mutation_p.E728K|HDAC5_ENST00000336057.5_Intron|HDAC5_ENST00000393622.2_Missense_Mutation_p.E728K	p.E729K			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	15	2508	-		Breast(137;0.00637)|Prostate(33;0.0313)	728	Histone deacetylase.	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2185G>A	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356629	0.82243	.	.	ENSG00000108840	ENST00000225983;ENST00000393622	T;T	0.50548	0.74;0.74	5.38	5.38	0.77491	5.38	5.38	0.77491	Histone deacetylase domain (2);	0.062618	0.64402	D	0.000007	T	0.50103	0.1596	L	0.41632	1.29	0.80722	D	1	D;P;P	0.58970	0.984;0.703;0.747	P;B;B	0.52823	0.71;0.114;0.182	T	0.43310	-0.9399	10	0.38643	T	0.18	-21.0677	13.6323	0.62202	0.0:0.8445:0.1555:0.0	.	728;729;728	B4DGT4;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	K	729;728	ENSP00000225983:E729K;ENSP00000377244:E728K	ENSP00000225983:E729K	E	-	1	0	0	HDAC5	39517918	39517918	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.954000	0.70298	2.517000	0.84864	0.655000	0.94253	GAG		0.552	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1		42.440763	-6	-6	41	41	NM_001015053		14	43.018797	43.018797	24	0.368421	0	0	0	1	0	14	24	0.368421	T	42162392	C	T	42162392	3	4	80	1	0	0	0	0	1	0	0	0	7010	893	31	1	1238	1	HDAC5	17	42162392	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1455895	42162392	39032818	429	1944											
HDAC5	10014	broad.mit.edu	37	17	42171083	42171083	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:42171083G>A	ENST00000393622.2	-	4	545	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	HDAC5_ENST00000225983.6_Missense_Mutation_p.R73W|HDAC5_ENST00000336057.5_Missense_Mutation_p.R72W|HDAC5_ENST00000586802.1_Missense_Mutation_p.R72W	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	72					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		tgctgctcccgcAGTGTGGGG	0.652																																						ENST00000225983.6											0			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(217-219)Cgg>Tgg	histone deacetylase 5						12	13	13					17																	42171083		2200	4298	6498	SO:0001583	missense	10014			B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42171083G>A	AF249731	AF249731	CCDS32663.1, CCDS45696.1	CCDS32663.1, CCDS45696.1	17q21	2008-07-18			2008-07-18							3.5.1.98			14068	14068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605315	605315						10220385, 9610721	10220385, 9610721	Standard	Standard	XM_005256905	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	uc002iff.1	Q9UQL6	Q9UQL6			ENST00000393622.2:c.214C>T	17.37:g.42171083G>A	ENSP00000377244:p.Arg72Trp		HDAC5_ENST00000586802.1_Missense_Mutation_p.R72W|HDAC5_ENST00000336057.5_Missense_Mutation_p.R72W|HDAC5_ENST00000393622.2_Missense_Mutation_p.R72W	p.R73W			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	4	540	-		Breast(137;0.00637)|Prostate(33;0.0313)	72		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.217C>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804943	0.50315	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.50813	0.77;0.77;0.73	4.16	3.17	0.36434	4.16	3.17	0.36434	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000014	T	0.53642	0.1809	L	0.28115	0.83	0.50632	D	0.999886	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.996;0.994;0.996	T	0.56013	-0.8049	10	0.87932	D	0	-16.6272	11.918	0.52776	0.0:0.0:0.8236:0.1763	.	72;72;73;72	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	W	73;72;72	ENSP00000225983:R73W;ENSP00000377244:R72W;ENSP00000337290:R72W	ENSP00000225983:R73W	R	-	1	2	2	HDAC5	39526609	39526609	1.000000	0.71417	0.820000	0.32676	0.872000	0.50106	3.192000	0.50989	0.704000	0.31869	0.462000	0.41574	CGG		0.652	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1		7.518541	4	4	14	14	NM_001015053		3	8.381823	8.381823	10	0.230769	0	0	0	1	0	3	10	0.230769	A	42171083	G	A	42171083	3	1	80	1	0	0	0	0	1	0	0	0	7010	1086	38	1	3250	1	HDAC5	17	42171083	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8691	42171083	39024127	430	1945											
FMNL1	752	broad.mit.edu	37	17	43320614	43320614	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:43320614C>T	ENST00000331495.3	+	17	2476	c.2140C>T	c.(2140-2142)Cgg>Tgg	p.R714W	CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.R292W|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.R714W|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	714	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGAGGCCAACCGGGCCAAGAA	0.627																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3											0			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(2140-2142)Cgg>Tgg	formin-like 1						71	69	70					17																	43320614		2203	4300	6503	SO:0001583	missense	752			actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43320614C>T	AJ008112	AJ008112	CCDS11497.1	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922		ENSG00000184922				1212	1212	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604656	604656	"formin-like"	C17orf1B, FMNL	"formin-like"	C17orf1B, FMNL		9799091	9799091	Standard	Standard	NM_005892	NM_005892		Approved	C17orf1	uc002iin.3	uc002iin.3	O95466	O95466			ENST00000331495.3:c.2140C>T	17.37:g.43320614C>T	ENSP00000329219:p.Arg714Trp		FMNL1_ENST00000328118.3_Missense_Mutation_p.R714W|FMNL1_ENST00000587489.1_Missense_Mutation_p.R292W	p.R714W	NM_005892.3	NP_005883	O95466	FMNL_HUMAN			17	2476	+			714	FH2.	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.2140C>T	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	c	18.97	3.735048	0.69189	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.22336	1.96;1.96	4.24	2.13	0.27403	4.24	2.13	0.27403	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.106801	0.64402	D	0.000010	T	0.53498	0.1800	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63501	-0.6623	10	0.87932	D	0	.	11.7488	0.51837	0.4334:0.5666:0.0:0.0	.	714	O95466	FMNL_HUMAN	W	714;714;369	ENSP00000327442:R714W;ENSP00000329219:R714W	ENSP00000327442:R714W	R	+	1	2	2	FMNL1	40676397	40676397	0.999000	0.42202	1.000000	0.80357	0.927000	0.56198	0.686000	0.25392	0.484000	0.27630	0.436000	0.28706	CGG		0.627	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1		8.919293	21	21	88	88	NM_005892		6	14.791251	14.791251	39	0.133333	0	0	0	1	0	6	39	0.133333	T	43320614	C	T	43320614	3	4	80	1	0	0	0	0	1	0	0	0	5951	643	23	1	2206	1	FMNL1	17	43320614	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1149531	43320614	37874596	431	1946											
CDC27	996	broad.mit.edu	37	17	45258967	45258967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:45258967G>A	ENST00000066544.3	-	2	157	c.64C>T	c.(64-66)Cga>Tga	p.R22*	CDC27_ENST00000531206.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000446365.2_Missense_Mutation_p.P10L|CDC27_ENST00000527547.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	22					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACCGCATCTCGGTAAGCATAG	0.363																																						ENST00000066544.3											0			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(64-66)Cga>Tga	cell division cycle 27						35	35	35					17																	45258967		2203	4300	6503	SO:0001587	stop_gained	996			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45258967G>A	U00001	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897	ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	1728	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	"anaphase promoting complex subunit 3"	116946	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	8234252	Standard	Standard	XM_005257892	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	uc002ile.4	P30260	P30260	OTTHUMG00000166429	OTTHUMG00000166429	ENST00000066544.3:c.64C>T	17.37:g.45258967G>A	ENSP00000066544:p.Arg22*		CDC27_ENST00000527547.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.P10L	p.R22*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			2	157	-			22		G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	c.64C>T	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.468514|6.468514	0.97590|0.97590	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000446365|ENST00000066544;ENST00000531206;ENST00000533415;ENST00000527547;ENST00000526866	T|.	0.75704|.	-0.96|.	4.93|4.93	3.95|3.95	0.45737|0.45737	4.93|4.93	3.95|3.95	0.45737|0.45737	.|.	.|0.075603	.|0.52532	.|D	.|0.000061	T|.	0.25382|.	0.0617|.	.|.	.|.	.|.	0.35175|0.35175	D|D	0.771941|0.771941	B|.	0.31519|.	0.327|.	B|.	0.19946|.	0.027|.	T|.	0.27157|.	-1.0082|.	8|.	0.87932|0.02654	D|T	0|1	-12.8139|-12.8139	10.1835|10.1835	0.42984|0.42984	0.0:0.0:0.6088:0.3912|0.0:0.0:0.6088:0.3912	.|.	10|.	B4DL80|.	.|.	L|X	10|22	ENSP00000392802:P10L|.	ENSP00000392802:P10L|ENSP00000066544:R22X	P|R	-|-	2|1	0|2	0|2	CDC27|CDC27	42613966|42613966	42613966|42613966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.795000|4.795000	0.62489|0.62489	1.275000|1.275000	0.44379|0.44379	0.462000|0.462000	0.41574|0.41574	CCG|CGA		0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		11.959733	-14	-14	23	23			5	14.258374	14.258374	21	0.192308	0	0	0	1	0	5	21	0.192308	A	45258967	G	A	45258967	4	1	80	1	0	0	0	0	0	1	0	0	3066	1124	39	1	2500	1	CDC27	17	45258967	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1938353	45258967	35936243	432	1947											
KPNB1	3837	broad.mit.edu	37	17	45742469	45742469	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:45742469C>T	ENST00000290158.4	+	9	1351	c.944C>T	c.(943-945)gCg>gTg	p.A315V	KPNB1_ENST00000535458.2_Missense_Mutation_p.A170V|KPNB1_ENST00000540627.1_Missense_Mutation_p.A170V|KPNB1_ENST00000537679.1_Intron	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	315					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AAGTTTTATGCGAAGGGAGCA	0.458																																						ENST00000290158.4											0			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(943-945)gCg>gTg	karyopherin (importin) beta 1						99	91	94					17																	45742469		2203	4300	6503	SO:0001583	missense	3837			DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45742469C>T	L39793	L39793	CCDS11513.1, CCDS62228.1	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			2013-02-14			ENSG00000108424	ENSG00000108424	ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	"Importins", "Armadillo repeat containing"	6400	6400	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"importin 1"	"importin 1"	602738	602738						7615630, 7627554	7615630, 7627554	Standard	Standard	NM_002265	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	uc002ilt.2	Q14974	Q14974	OTTHUMG00000036957	OTTHUMG00000036957	ENST00000290158.4:c.944C>T	17.37:g.45742469C>T	ENSP00000290158:p.Ala315Val		KPNB1_ENST00000537679.1_Intron|KPNB1_ENST00000540627.1_Missense_Mutation_p.A170V|KPNB1_ENST00000535458.2_Missense_Mutation_p.A170V	p.A315V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN			9	1351	+			315		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.944C>T	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887823	0.91814	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627	T;T;T	0.68331	-0.32;-0.32;-0.32	5.98	5.98	0.97165	5.98	5.98	0.97165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.62154	1.92	0.40003	D	0.975197	D	0.64830	0.994	B	0.39531	0.302	T	0.68938	-0.5277	9	0.36615	T	0.2	-4.2011	20.4561	0.99145	0.0:1.0:0.0:0.0	.	315	Q14974	IMB1_HUMAN	V	170;315;170	ENSP00000438253:A170V;ENSP00000290158:A315V;ENSP00000438964:A170V	ENSP00000290158:A315V	A	+	2	0	0	KPNB1	43097468	43097468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.847000	0.97988	0.591000	0.81541	GCG		0.458	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2		8.685645	5	5	44	44	NM_002265		4	10.993975	10.993975	19	0.173913	0	0	0	1	0	4	19	0.173913	T	45742469	C	T	45742469	3	4	80	1	0	0	0	0	1	0	0	0	8435	768	27	1	978	1	KPNB1	17	45742469	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	483502	45742469	35452741	433	1948											
GIP	2695	broad.mit.edu	37	17	47041771	47041771	+	Missense_Mutation	SNP	G	G	A	rs367741847		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:47041771G>A	ENST00000357424.2	-	3	258	c.158C>T	c.(157-159)gCg>gTg	p.A53V		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	53					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						AGTCCCTTCCGCGTACCTGGG	0.552																																						ENST00000357424.2											0			lung(2)|skin(1)|stomach(1)	4						c.(157-159)gCg>gTg	gastric inhibitory polypeptide	G	VAL/ALA	0,4406		0,0,2203	150	129	136		158	5.3	0.6	17		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	GIP	NM_004123.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	53/154	47041771	1,13005	2203	4300	6503	SO:0001583	missense	2695			energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr17:47041771G>A			CCDS11542.1	CCDS11542.1	17q21.3-q22	2013-02-26			2013-02-26			ENSG00000159224	ENSG00000159224	ENSG00000159224	ENSG00000159224		"Endogenous ligands"	"Endogenous ligands"	4270	4270	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"glucose-dependent insulinotropic polypeptide"	"glucose-dependent insulinotropic polypeptide"	137240	137240						2739653	2739653	Standard	Standard	NM_004123	NM_004123		Approved		uc002iol.1	uc002iol.1	P09681	P09681	OTTHUMG00000161171	OTTHUMG00000161171	ENST00000357424.2:c.158C>T	17.37:g.47041771G>A	ENSP00000350005:p.Ala53Val			p.A53V	NM_004123.2	NP_004114.1	P09681	GIP_HUMAN			3	258	-			53		Q4VB42|Q6NTD3	Missense_Mutation	SNP	ENST00000357424.2	37	c.158C>T	CCDS11542.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048167	0.93740	0.0	1.16E-4	ENSG00000159224	ENST00000357424	T	0.55234	0.53	5.32	5.32	0.75619	5.32	5.32	0.75619	Glucagon/GIP/secretin/VIP (3);	0.109714	0.41097	D	0.000945	T	0.72479	0.3465	M	0.78344	2.41	0.36540	D	0.871212	D	0.89917	1.0	D	0.91635	0.999	T	0.79205	-0.1899	10	0.72032	D	0.01	-13.4303	14.357	0.66745	0.0:0.0:1.0:0.0	.	53	P09681	GIP_HUMAN	V	53	ENSP00000350005:A53V	ENSP00000350005:A53V	A	-	2	0	0	GIP	44396770	44396770	0.714000	0.27936	0.596000	0.28811	0.500000	0.33767	4.738000	0.62073	2.769000	0.95229	0.563000	0.77884	GCG		0.552	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364044.1		34.391749	-20	-20	87	87	NM_004123		15	38.341159	38.341159	48	0.238095	0	0	0	1	0	15	48	0.238095	A	47041771	G	A	47041771	3	1	80	1	0	0	0	0	1	0	0	0	6391	1087	38	1	319	1	GIP	17	47041771	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1299302	47041771	34153439	434	1949											
B4GALNT2	124872	broad.mit.edu	37	17	47233948	47233948	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:47233948G>A	ENST00000300404.2	+	5	720	c.661G>A	c.(661-663)Gat>Aat	p.D221N	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D161N|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D135N	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	221					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGAAGGACCCGATGCCCCCGT	0.562																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2											0			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(661-663)Gat>Aat	beta-1,4-N-acetyl-galactosaminyl transferase 2						174	156	162					17																	47233948		2203	4300	6503	SO:0001583	missense	124872			lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47233948G>A	AJ517770	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	24136	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			111730	111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	8782649, 12678917	Standard	Standard	NM_153446	NM_153446		Approved	Sda, Cad	uc002ion.2	uc002ion.2	Q8NHY0	Q8NHY0	OTTHUMG00000161307	OTTHUMG00000161307	ENST00000300404.2:c.661G>A	17.37:g.47233948G>A	ENSP00000300404:p.Asp221Asn		B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D161N|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D135N	p.D221N	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		5	720	+			221		B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.661G>A	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	4.019	0.001034	0.07819	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.30182	1.54;1.54;1.54	3.68	0.539	0.17156	3.68	0.539	0.17156	.	1.417150	0.04375	N	0.359868	T	0.24353	0.0590	L	0.43152	1.355	0.09310	N	1	B;B	0.21688	0.014;0.059	B;B	0.11329	0.003;0.006	T	0.18116	-1.0347	10	0.29301	T	0.29	-1.2571	3.9275	0.09270	0.2324:0.2195:0.5481:0.0	.	161;221	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	N	135;161;221	ENSP00000425510:D135N;ENSP00000377022:D161N;ENSP00000300404:D221N	ENSP00000300404:D221N	D	+	1	0	0	B4GALNT2	44588947	44588947	0.004000	0.15560	0.060000	0.19600	0.017000	0.09413	0.311000	0.19380	0.165000	0.19558	-0.251000	0.11542	GAT		0.562	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1		114.930334	-21	-21	101	101	NM_153446		35	115.014056	115.014056	30	0.538462	0	0	0	1	0	35	30	0.538462	A	47233948	G	A	47233948	3	1	80	1	0	0	0	0	1	0	0	0	1267	1058	37	1	697	1	B4GALNT2	17	47233948	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	192177	47233948	33961262	435	1950											
NGFR	4804	broad.mit.edu	37	17	47590285	47590285	+	Missense_Mutation	SNP	G	G	A	rs534528579		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:47590285G>A	ENST00000172229.3	+	6	1323	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.A306T	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	400	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A400T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CACACTGGACGCCCTCCTGGC	0.682													G|||	1	0.000199681	0	0.0014	5008	,	,		12743	0		0	False		,,,				2504	0					ENST00000172229.3											1	Substitution - Missense(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(1198-1200)Gcc>Acc	nerve growth factor receptor						20	21	21					17																	47590285		2201	4297	6498	SO:0001583	missense	4804			anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47590285G>A	M14764	M14764	CCDS11549.1	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300	ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	7809	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"		"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	3022937, 3006050	Standard	Standard	NM_002507	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	uc002ioz.4	P08138	P08138	OTTHUMG00000161495	OTTHUMG00000161495	ENST00000172229.3:c.1198G>A	17.37:g.47590285G>A	ENSP00000172229:p.Ala400Thr		RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.A306T	p.A400T	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			6	1323	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		400	Death.	B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	c.1198G>A	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630411	0.46944	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.85339	-1.97;-1.97	4.55	3.56	0.40772	4.55	3.56	0.40772	Death (3);DEATH-like (2);	0.684942	0.13412	N	0.389821	T	0.75206	0.3818	L	0.44542	1.39	0.35899	D	0.830258	P	0.43662	0.814	B	0.32022	0.139	T	0.73748	-0.3885	10	0.21540	T	0.41	-17.3422	11.0572	0.47925	0.097:0.0:0.903:0.0	.	400	P08138	TNR16_HUMAN	T	400;306	ENSP00000172229:A400T;ENSP00000421731:A306T	ENSP00000172229:A400T	A	+	1	0	0	NGFR	44945284	44945284	0.997000	0.39634	0.974000	0.42286	0.979000	0.70002	2.515000	0.45512	0.991000	0.38814	0.561000	0.74099	GCC		0.682	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1		19.324203	-5	-5	19	19			7	19.338473	19.338473	8	0.466667	0	0	0	1	0	7	8	0.466667	A	47590285	G	A	47590285	3	1	80	1	0	0	0	0	1	0	0	0	10396	1087	38	1	1220	1	NGFR	17	47590285	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	356337	47590285	33604925	436	1951											
MYCBPAP	84073	broad.mit.edu	37	17	48597028	48597028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:48597028C>T	ENST00000323776.5	+	7	1087	c.925C>T	c.(925-927)Cga>Tga	p.R309*	MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.R272*|MYCBPAP_ENST00000468821.1_3'UTR	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTTCTGGAGTCGACTGGAATA	0.532																																						ENST00000323776.5											0			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(925-927)Cga>Tga	MYCBP associated protein						90	81	84					17																	48597028		2203	4300	6503	SO:0001587	stop_gained	84073			cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48597028C>T	BC028393	BC028393	CCDS32680.2	CCDS32680.2	17q21.33	2004-02-19			2004-02-19			ENSG00000136449	ENSG00000136449	ENSG00000136449	ENSG00000136449				19677	19677	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609835	609835						12151104	12151104	Standard	Standard	NM_032133	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	uc010wmr.2	Q8TBZ2	Q8TBZ2	OTTHUMG00000157184	OTTHUMG00000157184	ENST00000323776.5:c.925C>T	17.37:g.48597028C>T	ENSP00000323184:p.Arg309*		MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.R272*	p.R309*	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		7	1087	+	Breast(11;1.23e-18)		272			Nonsense_Mutation	SNP	ENST00000323776.5	37	c.925C>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	36	5.838983	0.97009	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.756894	0.12151	N	0.494885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	0.0517	9.8612	0.41116	0.0:0.7871:0.1406:0.0723	.	.	.	.	X	309;272	.	ENSP00000323184:R309X	R	+	1	2	2	MYCBPAP	45952027	45952027	0.082000	0.21442	0.886000	0.34754	0.931000	0.56810	2.335000	0.43929	2.775000	0.95449	0.563000	0.77884	CGA		0.532	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1		11.359220	7	7	65	65	NM_032133		5	13.86778	13.86778	22	0.185185	0	0	0	1	0	5	22	0.185185	T	48597028	C	T	48597028	4	4	80	1	0	0	0	0	0	1	0	0	10019	876	31	1	951	1	MYCBPAP	17	48597028	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1006743	48597028	32598182	437	1952											
CUEDC1	404093	broad.mit.edu	37	17	55950132	55950132	+	Missense_Mutation	SNP	G	G	A	rs150759994		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:55950132G>A	ENST00000577830.1	-	5	1089	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	CUEDC1_ENST00000407144.2_Missense_Mutation_p.R226C|CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000577840.1_Missense_Mutation_p.R89C|CUEDC1_ENST00000360238.2_Missense_Mutation_p.R226C	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	226										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TGCTTCCAGCGGCTCTCCTGG	0.637																																						ENST00000577830.1											0			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(676-678)Cgc>Tgc	CUE domain containing 1	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	80	73	75		676	4.4	1	17	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUEDC1	NM_017949.1	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	226/387	55950132	2,13004	2203	4300	6503	SO:0001583	missense	404093						g.chr17:55950132G>A	AK000746	AK000746	CCDS11599.1	CCDS11599.1	17q23.2	2004-03-16			2004-03-16				ENSG00000180891		ENSG00000180891				31350	31350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001271875	NM_001271875		Approved		uc002ive.2	uc002ive.2	Q9NWM3	Q9NWM3			ENST00000577830.1:c.676C>T	17.37:g.55950132G>A	ENSP00000462717:p.Arg226Cys		CUEDC1_ENST00000360238.2_Missense_Mutation_p.R226C|CUEDC1_ENST00000577840.1_Missense_Mutation_p.R89C|CUEDC1_ENST00000407144.2_Missense_Mutation_p.R226C	p.R226C	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN			5	1089	-			226		D3DTZ2|Q9NWD0	Missense_Mutation	SNP	ENST00000577830.1	37	c.676C>T	CCDS11599.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507195	0.85282	2.27E-4	1.16E-4	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.24908	1.83;1.83	5.46	4.43	0.53597	5.46	4.43	0.53597	.	0.102694	0.64402	D	0.000006	T	0.37265	0.0997	L	0.56769	1.78	0.54753	D	0.999983	D	0.71674	0.998	P	0.53146	0.719	T	0.18429	-1.0337	10	0.72032	D	0.01	-0.3714	13.1899	0.59704	0.0:0.0:0.7512:0.2488	.	226	Q9NWM3	CUED1_HUMAN	C	226	ENSP00000384712:R226C;ENSP00000353373:R226C	ENSP00000353373:R226C	R	-	1	0	0	CUEDC1	53305131	53305131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.218000	0.65257	2.561000	0.86390	0.655000	0.94253	CGC		0.637	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1		14.233331	0	0	82	82	NM_017949		9	22.445273	22.445273	56	0.138462	0	0	0	1	0	9	56	0.138462	A	55950132	G	A	55950132	3	1	80	1	0	0	0	0	1	0	0	0	4052	1116	39	1	508	1	CUEDC1	17	55950132	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7353104	55950132	25245078	438	1953											
RNF43	54894	broad.mit.edu	37	17	56435311	56435311	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:56435311C>T	ENST00000584437.1	-	8	3781	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q	RNF43_ENST00000500597.2_Missense_Mutation_p.R568Q|RNF43_ENST00000407977.2_Missense_Mutation_p.R609Q|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.R568Q|RNF43_ENST00000581868.1_Missense_Mutation_p.R482Q|RNF43_ENST00000577716.1_Missense_Mutation_p.R609Q|RNF43_ENST00000577625.1_Missense_Mutation_p.R482Q			Q68DV7	RNF43_HUMAN	ring finger protein 43	609	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTAGAGAGCCGCCCCGAAGG	0.637																																						ENST00000584437.1											0			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1825-1827)cGg>cAg	ring finger protein 43						53	64	60					17																	56435311		2198	4296	6494	SO:0001583	missense	54894				endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435311C>T			CCDS11607.1	CCDS11607.1	17q23.2	2013-01-09			2013-01-09								"RING-type (C3HC4) zinc fingers"	"RING-type (C3HC4) zinc fingers"	18505	18505	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612482	612482								Standard	Standard	NM_017763	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	uc002iwh.4	Q68DV7	Q68DV7			ENST00000584437.1:c.1826G>A	17.37:g.56435311C>T	ENSP00000463069:p.Arg609Gln		RNF43_ENST00000577716.1_Missense_Mutation_p.R609Q|RNF43_ENST00000407977.2_Missense_Mutation_p.R609Q|RNF43_ENST00000500597.2_Missense_Mutation_p.R568Q|RNF43_ENST00000583753.1_Missense_Mutation_p.R568Q|RNF43_ENST00000581868.1_Missense_Mutation_p.R482Q|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.R482Q	p.R609Q			Q68DV7	RNF43_HUMAN			8	3781	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		609	Pro-rich.	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1826G>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.023999	0.00414	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.17528	2.27;2.27	5.08	0.0187	0.14117	5.08	0.0187	0.14117	.	1.727610	0.02729	N	0.114877	T	0.06690	0.0171	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28776	-1.0033	10	0.13853	T	0.58	-13.9153	5.1916	0.15212	0.0:0.1852:0.1545:0.6603	.	568;609;609	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	Q	609;568	ENSP00000385328:R609Q;ENSP00000441969:R568Q	ENSP00000385328:R609Q	R	-	2	0	0	RNF43	53790310	53790310	0.412000	0.25392	0.005000	0.12908	0.136000	0.21042	0.976000	0.29462	0.001000	0.14605	-1.026000	0.02426	CGG		0.637	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1		57.617699	-44	-44	79	79	NM_017763		19	57.921122	57.921122	27	0.413043	0	0	0	1	0	19	27	0.413043	T	56435311	C	T	56435311	3	4	80	1	0	0	0	0	1	0	0	0	13495	652	23	1	533	1	RNF43	17	56435311	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	485179	56435311	24759899	439	1954											
CYB561	1534	broad.mit.edu	37	17	61514900	61514900	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:61514900G>A	ENST00000392976.1	-	2	308	c.9C>T	c.(7-9)ggC>ggT	p.G3G	CYB561_ENST00000542042.1_Silent_p.G70G|CYB561_ENST00000581573.1_Silent_p.G3G|CYB561_ENST00000584031.1_Silent_p.G3G|CYB561_ENST00000582297.1_Silent_p.G3G|CYB561_ENST00000360793.3_Silent_p.G3G|CYB561_ENST00000582997.1_Silent_p.G10G|CYB561_ENST00000448884.2_Silent_p.G3G|CYB561_ENST00000581163.1_5'Flank|CYB561_ENST00000582034.1_Intron|CYB561_ENST00000392975.2_Silent_p.G3G	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	3					electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		CCGCGGCCCCGCCCTCCATGC	0.687																																						ENST00000584031.1											0			lung(2)|ovary(1)|prostate(1)	4						c.(7-9)ggC>ggT	cytochrome b561						28	29	29					17																	61514900		2202	4298	6500	SO:0001819	synonymous_variant	1534			electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61514900G>A			CCDS11636.1	CCDS11636.1	17q23.3	2013-03-14	2013-03-14		2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283	ENSG00000008283	ENSG00000008283		"Cytochrome b genes"	"Cytochrome b genes"	2571	2571	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"ferric-chelate reductase 2", "cytochrome b561 family, member A1"	"ferric-chelate reductase 2", "cytochrome b561 family, member A1"	600019	600019						7959749, 23249217	7959749, 23249217	Standard	Standard	XM_005257091	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	uc002jas.3	P49447	P49447			ENST00000392976.1:c.9C>T	17.37:g.61514900G>A			CYB561_ENST00000582034.1_Intron|CYB561_ENST00000360793.3_Silent_p.G3G|CYB561_ENST00000448884.2_Silent_p.G3G|CYB561_ENST00000582997.1_Silent_p.G10G|CYB561_ENST00000542042.1_Silent_p.G70G|CYB561_ENST00000392976.1_Silent_p.G3G|CYB561_ENST00000582297.1_Silent_p.G3G|CYB561_ENST00000581573.1_Silent_p.G3G|CYB561_ENST00000392975.2_Silent_p.G3G	p.G3G			P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	2	308	-			3		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Silent	SNP	ENST00000392976.1	37	c.9C>T	CCDS11636.1																																																																																									0.687	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1		26.718150	4	4	18	18	NM_001915		9	26.753753	26.753753	11	0.45	0	0	0	1	0	9	11	0.45	A	61514900	G	A	61514900	2	1	80	1	0	0	0	0	0	0	0	1	4119	1074	38	1		1	CYB561	17	61514900	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5079589	61514900	19680310	440	1955											
SCN4A	6329	broad.mit.edu	37	17	62018497	62018497	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:62018497G>A	ENST00000435607.1	-	24	5221	c.5145C>T	c.(5143-5145)taC>taT	p.Y1715Y	SCN4A_ENST00000578147.1_Silent_p.Y1715Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1715					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGATGGGCTCGTAGGACACCT	0.607																																						ENST00000435607.1											0			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(5143-5145)taC>taT	sodium channel, voltage-gated, type IV, alpha subunit						138	137	137					17																	62018497		2094	4218	6312	SO:0001819	synonymous_variant	6329			muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018497G>A	U24693	U24693			17q23.3	2012-02-26	2007-01-23		2012-02-26	2007-01-23							"Sodium channels", "Voltage-gated ion channels / Sodium channels"	"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	10591	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603967	603967		HYKPP		HYKPP		1654742, 1659948, 16382098	1654742, 1659948, 16382098	Standard	Standard	XM_005257566	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	uc002jds.1	P35499	P35499			ENST00000435607.1:c.5145C>T	17.37:g.62018497G>A			SCN4A_ENST00000578147.1_Silent_p.Y1715Y	p.Y1715Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			24	5221	-			1715		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.5145C>T	CCDS45761.1																																																																																									0.607	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			72.895300	17	17	101	101	NM_000334		24	72.962129	72.962129	28	0.461538	0	0	0	1	0	24	28	0.461538	A	62018497	G	A	62018497	2	1	80	1	0	0	0	0	0	0	0	1	13920	1140	40	1		1	SCN4A	17	62018497	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	503597	62018497	19176713	441	1956											
LLGL2	3993	broad.mit.edu	37	17	73569290	73569290	+	Missense_Mutation	SNP	C	C	T	rs370466207		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:73569290C>T	ENST00000392550.3	+	20	2773	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	LLGL2_ENST00000577200.1_Missense_Mutation_p.R886C|LLGL2_ENST00000167462.5_Missense_Mutation_p.R886C	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	886					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCCCCAGGTGCGCTACAGCTG	0.652																																						ENST00000392550.3											0			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2656-2658)Cgc>Tgc	lethal giant larvae homolog 2 (Drosophila)	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	60	53	55		2656,2656	4.6	1	17		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LLGL2	NM_001031803.1,NM_004524.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	886/1021,886/1016	73569290	1,13005	2203	4300	6503	SO:0001583	missense	3993			cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569290C>T	X87342	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28		2013-01-10	2001-11-28			ENSG00000073350		ENSG00000073350		"WD repeat domain containing"	"WD repeat domain containing"	6629	6629	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"lethal giant larvae (Drosophila) homolog 2"		"lethal giant larvae (Drosophila) homolog 2"					Standard	Standard	XR_243659	XR_243659		Approved	HGL	uc002joh.3	uc002joh.3	Q6P1M3	Q6P1M3			ENST00000392550.3:c.2656C>T	17.37:g.73569290C>T	ENSP00000376333:p.Arg886Cys		LLGL2_ENST00000577200.1_Missense_Mutation_p.R886C|LLGL2_ENST00000167462.5_Missense_Mutation_p.R886C	p.R886C	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	2773	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		886		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2656C>T	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741877	0.49151	0.0	1.16E-4	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.05199	3.48;3.59	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.172598	0.51477	D	0.000089	T	0.24122	0.0584	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;P;D;D;P	0.67900	0.954;0.828;0.917;0.921;0.836	T	0.01042	-1.1471	10	0.72032	D	0.01	1.0738	17.7269	0.88367	0.0:1.0:0.0:0.0	.	513;875;875;886;886	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	C	886;886;875	ENSP00000167462:R886C;ENSP00000376333:R886C	ENSP00000167462:R886C	R	+	1	0	0	LLGL2	71080885	71080885	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.604000	0.82830	2.408000	0.81797	0.400000	0.26472	CGC		0.652	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1		27.336539	-11	-11	79	79	NM_004524		13	32.779405	32.779405	52	0.2	0	0	0	1	0	13	52	0.2	T	73569290	C	T	73569290	3	4	80	1	0	0	0	0	1	0	0	0	8834	768	27	1	2765	1	LLGL2	17	73569290	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	11550793	73569290	7625920	442	1957											
CDK3	1018	broad.mit.edu	37	17	73999371	73999371	+	Silent	SNP	C	C	T	rs141477491		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:73999371C>T	ENST00000425876.2	+	6	772	c.684C>T	c.(682-684)ccC>ccT	p.P228P	CDK3_ENST00000448471.1_Silent_p.P228P|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						ACACATGGCCCGGGGTCACCC	0.562																																						ENST00000425876.2											0			central_nervous_system(1)	1						c.(682-684)ccC>ccT	cyclin-dependent kinase 3	C		0,4406		0,0,2203	111	122	118		684	-3.8	0.8	17	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDK3	NM_001258.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		228/306	73999371	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1018			cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:73999371C>T	X66357	X66357	CCDS11736.1	CCDS11736.1	17q25.1	2012-09-20			2012-09-20			ENSG00000250506	ENSG00000250506	ENSG00000250506	ENSG00000250506		"Cyclin-dependent kinases"	"Cyclin-dependent kinases"	1772	1772	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			123828	123828						1639063	1639063	Standard	Standard	NM_001258	NM_001258		Approved		uc010dgt.3	uc010dgt.3	Q00526	Q00526	OTTHUMG00000154861	OTTHUMG00000154861	ENST00000425876.2:c.684C>T	17.37:g.73999371C>T			CDK3_ENST00000448471.1_Silent_p.P228P|TEN1-CDK3_ENST00000567351.1_RNA	p.P228P			Q00526	CDK3_HUMAN			6	772	+			228	Protein kinase.		Silent	SNP	ENST00000425876.2	37	c.684C>T	CCDS11736.1																																																																																									0.562	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2		12.088511	-32	-32	109	109	NM_001258		10	25.292214	25.292214	79	0.11236	0	0	0	1	0	10	79	0.11236	T	73999371	C	T	73999371	2	4	80	1	0	0	0	0	0	0	0	1	3140	639	23	1		1	CDK3	17	73999371	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	430081	73999371	7195839	443	1958											
BIRC5	332	broad.mit.edu	37	17	76212052	76212052	+	Missense_Mutation	SNP	C	C	T	rs115296168		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:76212052C>T	ENST00000301633.4	+	3	358	c.227C>T	c.(226-228)cCg>cTg	p.P76L	BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000350051.3_Intron|AC087645.1_ENST00000600484.1_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TACAGTGggccgggcacggtg	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		15769	0		0	False		,,,				2504	0					ENST00000301633.4											0			kidney(1)|urinary_tract(1)	2						c.(226-228)cCg>cTg	baculoviral IAP repeat containing 5	C	,LEU/PRO,	11,4395	17.9+/-39.9	0,11,2192	76	80	79		,227,	-0.7	0	17	dbSNP_132	79	0,8600		0,0,4300	yes	intron,missense,intron	BIRC5	NM_001012270.1,NM_001012271.1,NM_001168.2	,98,	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	,probably-damaging,	,76/166,	76212052	11,12995	2203	4300	6503	SO:0001583	missense	332			anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76212052C>T	U75285	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685	ENSG00000089685	ENSG00000089685		"Baculoviral IAP repeat containing"	"Baculoviral IAP repeat containing"	593	593	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"survivin variant 3 alpha"	"survivin variant 3 alpha"	603352	603352	"apoptosis inhibitor 4", "baculoviral IAP repeat-containing 5"	API4	"apoptosis inhibitor 4", "baculoviral IAP repeat-containing 5"	API4		8106347, 7947793	8106347, 7947793	Standard	Standard	XR_243654	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	uc002jvf.3	O15392	O15392			ENST00000301633.4:c.227C>T	17.37:g.76212052C>T	ENSP00000301633:p.Pro76Leu		BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Intron	p.P76L	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		3	358	+			74		A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Missense_Mutation	SNP	ENST00000301633.4	37	c.227C>T	CCDS32752.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	5.906	0.351257	0.11182	0.002497	0.0	ENSG00000089685	ENST00000301633;ENST00000432014	T	0.64803	-0.12	0.352	-0.704	0.11256	0.352	-0.704	0.11256	.	.	.	.	.	T	0.60340	0.2261	L	0.28400	0.85	0.09310	N	1	D;D	0.63046	0.99;0.992	P;D	0.63283	0.859;0.913	T	0.51140	-0.8743	8	0.51188	T	0.08	.	.	.	.	.	76;53	O15392-2;A3E0Z5	.;.	L	76	ENSP00000301633:P76L	ENSP00000301633:P76L	P	+	2	0	0	BIRC5	73723647	73723647	0.001000	0.12720	0.001000	0.08648	0.036000	0.12997	-0.277000	0.08502	-0.424000	0.07382	0.121000	0.15741	CCG		0.582	BIRC5-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000437234.3		55.446130	-13	-13	50	50	NM_001168		20	55.945671	55.945671	31	0.392157	0	0	0	1	0	20	31	0.392157	T	76212052	C	T	76212052	3	4	80	1	0	0	0	0	1	0	0	0	1437	652	23	1	237	1	BIRC5	17	76212052	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2212681	76212052	4983158	444	1959											
DNAH17	9489	broad.mit.edu	37	17	76421569	76421569	+	IGR	SNP	C	C	T	rs572367991		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:76421569C>T	ENST00000262764.6	+	0	2201				DNAH17_ENST00000389840.5_Silent_p.T4356T|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.T4328T|AC061992.1_ENST00000600087.1_5'Flank	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GCATGATGGCCGTGAGGAACG	0.597													C|||	1	0.000199681	0	0	5008	,	,		17759	0.001		0	False		,,,				2504	0				Esophageal Squamous(45;182 1126 10685 43198)	ENST00000389840.5											0			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13066-13068)acG>acA	dynein, axonemal, heavy chain 17						71	69	70					17																	76421569		2203	4300	6503	SO:0001628	intergenic_variant	8632						g.chr17:76421569C>T		AJ000522	CCDS42391.1		17q25.3	2006-02-09			2012-04-19	2006-09-04				ENSG00000187775	ENSG00000187775			"Axonemal dyneins"	30029	2946	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614942	610063			"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9880566	9545504	Standard	Standard	XR_243691	NM_173628		Approved	DKFZP762M186	uc002jvm.3	uc010dhp.2	Q32NB8	Q9UFH2				17.37:g.76421569C>T			DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.T4328T	p.T4356T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		80	13192	-					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Silent	SNP	ENST00000262764.6	37	c.13068G>A	CCDS42391.1																																																																																									0.597	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1		39.437106	16	16	58	58	NM_024419		14	40.469779	40.469779	28	0.333333	0	0	0	1	0	14	28	0.333333	T	76421569	C	T	76421569	1	4	80	0	1	0	0	0	0	0	0	0	4601	639	23	1		1	DNAH17	17	76421569	IGR	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	209517	76421569	4773641	445	1960											
CBX2	84733	broad.mit.edu	37	17	77757864	77757864	+	Missense_Mutation	SNP	G	G	A	rs61738483		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:77757864G>A	ENST00000310942.4	+	5	726	c.622G>A	c.(622-624)Gtt>Att	p.V208I		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	208					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAGCGCCCCCGTTGCAGGCCT	0.692																																						ENST00000310942.4											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(622-624)Gtt>Att	chromobox homolog 2						16	22	20					17																	77757864		2174	4276	6450	SO:0001583	missense	84733			cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77757864G>A	BC004252, BG354579	BC004252, BG354579	CCDS11764.1, CCDS32757.1	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894	ENSG00000173894	ENSG00000173894				1552	1552	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	"Pc class homolog (Drosophila)"	602770	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	7782071, 2477932	Standard	Standard	NM_005189	NM_005189		Approved	MGC10561	uc002jxc.3	uc002jxc.3	Q14781	Q14781			ENST00000310942.4:c.622G>A	17.37:g.77757864G>A	ENSP00000308750:p.Val208Ile			p.V208I	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	726	+			208		Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.622G>A	CCDS32757.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.353	0.831312	0.16820	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	1.394450	0.04612	N	0.400508	T	0.28830	0.0715	N	0.12182	0.205	0.80722	D	1	D	0.54772	0.968	B	0.31869	0.137	T	0.25984	-1.0116	9	0.22706	T	0.39	0.8498	13.2719	0.60165	0.0771:0.0:0.9229:0.0	.	208	Q14781	CBX2_HUMAN	I	208	.	ENSP00000308750:V208I	V	+	1	0	0	CBX2	75372459	75372459	0.999000	0.42202	0.978000	0.43139	0.268000	0.26511	3.532000	0.53553	2.577000	0.86979	0.655000	0.94253	GTT		0.692	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1		16.397945	2	2	35	35	NM_032647		7	17.828745	17.828745	20	0.259259	0	0	0	1	0	7	20	0.259259	A	77757864	G	A	77757864	3	1	80	1	0	0	0	0	1	0	0	0	2718	1145	40	1	988	1	CBX2	17	77757864	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1336295	77757864	3437346	446	1961											
AZI1	22994	broad.mit.edu	37	17	79193765	79193765	+	Missense_Mutation	SNP	C	C	T	rs372370793		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79193765C>T	ENST00000269392.4	-	2	339	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	AZI1_ENST00000374782.3_Missense_Mutation_p.R31Q|AZI1_ENST00000575907.1_Missense_Mutation_p.R31Q|AZI1_ENST00000450824.2_Missense_Mutation_p.R31Q	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		31					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCAGGACGCCGGGACACAGG	0.662																																						ENST00000269392.4											0			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(91-93)cGg>cAg	5-azacytidine induced 1	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95	86	89		92,92	1.4	0.8	17		89	0,8600		0,0,4300	no	missense,missense	AZI1	NM_001009811.2,NM_014984.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	31/1045,31/1081	79193765	1,13005	2203	4300	6503	SO:0001583	missense	22994			cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79193765C>T																																																	ENST00000269392.4:c.92G>A	17.37:g.79193765C>T	ENSP00000269392:p.Arg31Gln		AZI1_ENST00000575907.1_Missense_Mutation_p.R31Q|AZI1_ENST00000450824.2_Missense_Mutation_p.R31Q|AZI1_ENST00000374782.3_Missense_Mutation_p.R31Q	p.R31Q	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		2	339	-	all_neural(118;0.0804)|Melanoma(429;0.242)		31		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.92G>A		.	.	.	.	.	.	.	.	.	.	C	11.06	1.526782	0.27299	2.27E-4	0.0	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.23348	1.91;1.91;1.91	4.01	1.36	0.22044	4.01	1.36	0.22044	.	0.633633	0.14040	N	0.345497	T	0.15003	0.0362	L	0.34521	1.04	0.27817	N	0.941921	B;B;B;B	0.29188	0.093;0.093;0.236;0.038	B;B;B;B	0.16722	0.011;0.011;0.016;0.008	T	0.18398	-1.0338	10	0.28530	T	0.3	-9.6986	6.4005	0.21636	0.0:0.5742:0.0:0.4258	.	31;31;31;31	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	Q	31	ENSP00000393583:R31Q;ENSP00000363914:R31Q;ENSP00000269392:R31Q	ENSP00000269392:R31Q	R	-	2	0	0	AZI1	76808360	76808360	0.937000	0.31787	0.817000	0.32601	0.629000	0.37895	0.189000	0.17037	0.070000	0.16634	0.462000	0.41574	CGG		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1		96.149057	7	7	103	103			30	96.203002	96.203002	34	0.46875	0	0	0	1	0	30	34	0.46875	T	79193765	C	T	79193765	3	4	80	1	0	0	0	0	1	0	0	0	1240	652	23	1	3250	1	AZI1	17	79193765	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1435901	79193765	2001445	447	1962											
C17orf90	339229	broad.mit.edu	37	17	79632514	79632514	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79632514C>T	ENST00000374741.3	-	2	171	c.161G>A	c.(160-162)cGc>cAc	p.R54H	PDE6G_ENST00000574777.1_5'Flank|PDE6G_ENST00000571224.1_5'Flank|OXLD1_ENST00000571503.1_3'UTR|OXLD1_ENST00000573786.1_5'UTR|CCDC137_ENST00000329214.8_5'Flank	NM_001039842.1	NP_001034931.1	Q5BKU9	OXLD1_HUMAN	oxidoreductase-like domain containing 1	54						mitochondrion (GO:0005739)											GAATTTTCTGCGCCCATCAGG	0.672																																						ENST00000374741.3											0										c.(160-162)cGc>cAc	oxidoreductase-like domain containing 1						37	40	39					17																	79632514		2203	4298	6501	SO:0001583	missense	339229						g.chr17:79632514C>T			CCDS32766.1	CCDS32766.1	17q25.3	2012-07-20	2012-07-20	2012-07-20	2012-07-20	2012-07-20	2012-07-20	ENSG00000204237	ENSG00000204237	ENSG00000204237	ENSG00000204237				27901	27901	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 17 open reading frame 90"	C17orf90	"chromosome 17 open reading frame 90"	C17orf90				Standard	Standard	NM_001039842	NM_001039842		Approved	MGC104712	uc002kba.3	uc002kba.3	Q5BKU9	Q5BKU9	OTTHUMG00000178063	OTTHUMG00000178063	ENST00000374741.3:c.161G>A	17.37:g.79632514C>T	ENSP00000363873:p.Arg54His		OXLD1_ENST00000571503.1_3'UTR|OXLD1_ENST00000573786.1_5'UTR	p.R54H	NM_001039842.1	NP_001034931.1					2	171	-					A6ND24	Missense_Mutation	SNP	ENST00000374741.3	37	c.161G>A	CCDS32766.1	.	.	.	.	.	.	.	.	.	.	C	8.849	0.944049	0.18281	.	.	ENSG00000204237	ENST00000374741	.	.	.	3.82	-7.49	0.01355	3.82	-7.49	0.01355	.	1.052130	0.07613	N	0.925722	T	0.17323	0.0416	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	9	0.17832	T	0.49	-2.5493	9.9797	0.41806	0.1064:0.6937:0.0:0.2	.	54	Q5BKU9	CQ090_HUMAN	H	54	.	ENSP00000363873:R54H	R	-	2	0	0	C17orf90	77242919	77242919	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.118000	0.00596	-1.833000	0.01195	-0.137000	0.14449	CGC		0.672	OXLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440380.1		4.774666	-1	-1	68	68	NM_001039842		4	10.156218	10.156218	32	0.111111	0	0	0	1	0	4	32	0.111111	T	79632514	C	T	79632514	3	4	80	1	0	0	0	0	1	0	0	0	1891	768	27	1	286	1	C17orf90	17	79632514	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	438749	79632514	1562696	448	1963											
NOTUM	147111	broad.mit.edu	37	17	79914795	79914795	+	Missense_Mutation	SNP	G	G	A	rs138384810	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79914795G>A	ENST00000409678.3	-	7	1234	c.851C>T	c.(850-852)aCg>aTg	p.T284M		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	284						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGGCGCGCACGTGATCGTGTC	0.672													G|||	2	0.000399361	0.0015	0	5008	,	,		18163	0		0	False		,,,				2504	0					ENST00000409678.3											0			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(850-852)aCg>aTg	notum pectinacetylesterase homolog (Drosophila)	G	MET/THR	0,4406		0,0,2203	86	64	71		851	3.6	0.3	17	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NOTUM	NM_178493.5	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	284/497	79914795	2,13004	2203	4300	6503	SO:0001583	missense	147111				extracellular region	hydrolase activity	g.chr17:79914795G>A	BC060882	BC060882	CCDS32771.2	CCDS32771.2	17q25.3	2008-02-05			2008-02-05			ENSG00000185269	ENSG00000185269	ENSG00000185269	ENSG00000185269				27106	27106	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609847	609847								Standard	Standard	NM_178493	NM_178493		Approved		uc010wvg.2	uc010wvg.2	Q6P988	Q6P988	OTTHUMG00000154416	OTTHUMG00000154416	ENST00000409678.3:c.851C>T	17.37:g.79914795G>A	ENSP00000387310:p.Thr284Met			p.T284M	NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1234	-	all_neural(118;0.0878)|Ovarian(332;0.12)		284		Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.851C>T	CCDS32771.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	12.06	1.824093	0.32237	0.0	2.33E-4	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.61	3.6	0.41247	4.61	3.6	0.41247	.	0.244696	0.47455	D	0.000230	T	0.56411	0.1983	L	0.53249	1.67	0.35967	D	0.835019	D	0.56521	0.976	P	0.51055	0.657	T	0.65249	-0.6214	9	0.41790	T	0.15	.	13.4264	0.61028	0.0:0.0:0.8362:0.1638	.	284	Q6P988	NOTUM_HUMAN	M	284	.	ENSP00000387310:T284M	T	-	2	0	0	NOTUM	77508085	77508085	1.000000	0.71417	0.300000	0.25030	0.029000	0.11900	3.657000	0.54474	0.841000	0.35020	0.491000	0.48974	ACG		0.672	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2		3.308357	1	1	38	38	NM_178493		3	6.84938	6.84938	22	0.12	0	0	0	1	0	3	22	0.12	A	79914795	G	A	79914795	3	1	80	1	0	0	0	0	1	0	0	0	10552	1145	40	1	659	1	NOTUM	17	79914795	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	282281	79914795	1280415	449	1964											
RAC3	5881	broad.mit.edu	37	17	79990655	79990655	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79990655C>T	ENST00000306897.4	+	3	314	c.176C>T	c.(175-177)gCg>gTg	p.A59V		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	59					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGGGACACAGCGGGTCAGGAG	0.617																																						ENST00000306897.4											0			NS(1)|kidney(1)|skin(1)	3						c.(175-177)gCg>gTg	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)						82	82	82					17																	79990655		2203	4300	6503	SO:0001583	missense	5881			actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79990655C>T	AF008591	AF008591	CCDS11798.1	CCDS11798.1	17q25.3	2014-01-30			2014-01-30				ENSG00000169750		ENSG00000169750		"Endogenous ligands"	"Endogenous ligands"	9803	9803	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602050	602050								Standard	Standard	NM_005052	NM_005052		Approved		uc002kdf.3	uc002kdf.3	P60763	P60763			ENST00000306897.4:c.176C>T	17.37:g.79990655C>T	ENSP00000304283:p.Ala59Val			p.A59V	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		3	314	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		59		O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	c.176C>T	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800053	0.90538	.	.	ENSG00000169750	ENST00000306897	D	0.88818	-2.43	3.79	3.79	0.43588	3.79	3.79	0.43588	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	H	0.99507	4.6	0.80722	D	1	D	0.56746	0.977	P	0.58266	0.836	D	0.98660	1.0683	9	.	.	.	.	15.8343	0.78787	0.0:1.0:0.0:0.0	.	59	P60763	RAC3_HUMAN	V	59	ENSP00000304283:A59V	.	A	+	2	0	0	RAC3	77583944	77583944	1.000000	0.71417	0.067000	0.19924	0.647000	0.38526	5.585000	0.67497	1.935000	0.56089	0.561000	0.74099	GCG		0.617	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1		27.569897	-20	-20	86	86			12	31.987486	31.987486	45	0.210526	0	0	0	1	0	12	45	0.210526	T	79990655	C	T	79990655	3	4	80	1	0	0	0	0	1	0	0	0	12976	768	27	1	186	1	RAC3	17	79990655	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	75860	79990655	1204555	450	1965											
LRRC30	339291	broad.mit.edu	37	18	7231425	7231425	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:7231425G>A	ENST00000383467.2	+	1	303	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	97										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GACCCGGATCGTGGTCCTGAA	0.582																																						ENST00000383467.2											0			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(289-291)Gtg>Atg	leucine rich repeat containing 30						46	50	49					18																	7231425		1943	4136	6079	SO:0001583	missense	339291						g.chr18:7231425G>A			CCDS42409.1	CCDS42409.1	18p11.23	2005-01-06			2005-01-06				ENSG00000206422		ENSG00000206422				30219	30219	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001105581	NM_001105581		Approved		uc010wzk.2	uc010wzk.2	A6NM36	A6NM36			ENST00000383467.2:c.289G>A	18.37:g.7231425G>A	ENSP00000372959:p.Val97Met			p.V97M	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	303	+			97			Missense_Mutation	SNP	ENST00000383467.2	37	c.289G>A	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316624	0.60524	.	.	ENSG00000206422	ENST00000383467	T	0.09817	2.94	5.65	4.78	0.61160	5.65	4.78	0.61160	.	0.107337	0.64402	N	0.000006	T	0.10294	0.0252	L	0.39467	1.215	0.41749	D	0.989658	P	0.48162	0.906	B	0.38954	0.286	T	0.14755	-1.0461	10	0.33141	T	0.24	.	14.9243	0.70866	0.0688:0.0:0.9312:0.0	.	97	A6NM36	LRC30_HUMAN	M	97	ENSP00000372959:V97M	ENSP00000372959:V97M	V	+	1	0	0	LRRC30	7221425	7221425	1.000000	0.71417	0.923000	0.36655	0.997000	0.91878	7.263000	0.78421	1.530000	0.49136	0.650000	0.86243	GTG		0.582	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1		17.910025	-2	-2	45	45	XM_292678		7	19.862383	19.862383	23	0.233333	0	0	0	1	0	7	23	0.233333	A	7231425	G	A	7231425	3	1	80	1	0	0	0	0	1	0	0	0	8985	1145	40	1	291	1	LRRC30	18	7231425	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		7231425	70845823	451	1966											
LAMA3	3909	broad.mit.edu	37	18	21484018	21484018	+	Missense_Mutation	SNP	G	G	A	rs201023601		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:21484018G>A	ENST00000313654.9	+	50	6681	c.6440G>A	c.(6439-6441)cGg>cAg	p.R2147Q	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.R482Q|LAMA3_ENST00000269217.6_Missense_Mutation_p.R538Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2091Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2147	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAGCACGCGCGGTCCTTACAA	0.512																																						ENST00000313654.9											0			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(6439-6441)cGg>cAg	laminin, alpha 3						81	83	82					18																	21484018		2203	4300	6503	SO:0001583	missense	3909			cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21484018G>A	L34155	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747	ENSG00000053747	ENSG00000053747		"Laminins"	"Laminins"	6483	6483	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600805	600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	8077230	Standard	Standard	NM_000227	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	uc002kuq.3	Q16787	Q16787	OTTHUMG00000131874	OTTHUMG00000131874	ENST00000313654.9:c.6440G>A	18.37:g.21484018G>A	ENSP00000324532:p.Arg2147Gln		LAMA3_ENST00000587184.1_Missense_Mutation_p.R482Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2091Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.R538Q	p.R2147Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			50	6681	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2147	Domain II and I.	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6440G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	0.212	-1.035403	0.02029	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77358	2.31;-1.09;2.0	6.11	4.95	0.65309	6.11	4.95	0.65309	.	.	.	.	.	T	0.36220	0.0959	N	0.00182	-1.905	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42783	-0.9431	9	0.02654	T	1	.	6.3132	0.21176	0.7524:0.0:0.1292:0.1184	.	482;538;2091;2147	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	Q	2147;2091;538	ENSP00000324532:R2147Q;ENSP00000382432:R2091Q;ENSP00000269217:R538Q	ENSP00000269217:R538Q	R	+	2	0	0	LAMA3	19738016	19738016	0.993000	0.37304	0.064000	0.19789	0.049000	0.14656	3.166000	0.50785	0.549000	0.28973	-0.254000	0.11334	CGG		0.512	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		1.460779	-7	-7	112	112	NM_000227, NM_198129		7	16.280938	16.280938	77	0.083333	0	0	0	1	0	7	77	0.083333	A	21484018	G	A	21484018	3	1	80	1	0	0	0	0	1	0	0	0	8607	1116	39	1	6813	1	LAMA3	18	21484018	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14252593	21484018	56593230	452	1967											
ZNF521	25925	broad.mit.edu	37	18	22807526	22807526	+	Missense_Mutation	SNP	G	G	A	rs149969134		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:22807526G>A	ENST00000361524.3	-	4	504	c.356C>T	c.(355-357)cCg>cTg	p.P119L	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.P119L|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	119					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAATTGACACGGGTATGGAAG	0.517			T	PAX5	ALL																																	ENST00000361524.3		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(355-357)cCg>cTg	zinc finger protein 521	G	LEU/PRO	0,4406		0,0,2203	105	98	100		356	6.1	0.4	18	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF521	NM_015461.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	119/1312	22807526	1,13005	2203	4300	6503	SO:0001583	missense	25925			cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807526G>A	AK027354	AK027354	CCDS32806.1	CCDS32806.1	18q11.2	2013-01-08			2013-01-08				ENSG00000198795		ENSG00000198795		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	24605	24605	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	"early hematopoietic zinc finger"	610974	610974						11984006, 14630787	11984006, 14630787	Standard	Standard	NM_015461	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	uc002kvk.2	Q96K83	Q96K83			ENST00000361524.3:c.356C>T	18.37:g.22807526G>A	ENSP00000354794:p.Pro119Leu		ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.P119L	p.P119L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	504	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		119		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.356C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549679	0.27652	0.0	1.16E-4	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.52057	0.68;0.68	6.07	6.07	0.98685	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053757	0.85682	D	0.000000	T	0.49201	0.1543	N	0.19112	0.55	0.54753	D	0.999984	D	0.63880	0.993	P	0.56700	0.804	T	0.40850	-0.9541	10	0.38643	T	0.18	-17.3632	16.8961	0.86101	0.0:0.0:0.8714:0.1286	.	119	Q96K83	ZN521_HUMAN	L	119;153;119	ENSP00000354794:P119L;ENSP00000382352:P119L	ENSP00000354794:P119L	P	-	2	0	0	ZNF521	21061524	21061524	1.000000	0.71417	0.437000	0.26809	0.754000	0.42855	7.617000	0.83032	2.885000	0.99019	0.655000	0.94253	CCG		0.517	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2		31.598146	-37	-37	101	101	NM_015461		15	40.179553	40.179553	71	0.174419	0	0	0	1	0	15	71	0.174419	A	22807526	G	A	22807526	3	1	80	1	0	0	0	0	1	0	0	0	17962	1116	39	1	3599	1	ZNF521	18	22807526	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1323508	22807526	55269722	453	1968											
DTNA	1837	broad.mit.edu	37	18	32395925	32395925	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:32395925C>T	ENST00000399113.3	+	6	656	c.656C>T	c.(655-657)cCg>cTg	p.P219L	DTNA_ENST00000597674.1_5'Flank|DTNA_ENST00000269192.7_5'Flank|DTNA_ENST00000595022.1_Missense_Mutation_p.P219L|DTNA_ENST00000597599.1_Missense_Mutation_p.P219L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000399121.5_Missense_Mutation_p.P219L|DTNA_ENST00000598774.1_Missense_Mutation_p.P219L|DTNA_ENST00000598142.1_Missense_Mutation_p.P219L|DTNA_ENST00000444659.1_Missense_Mutation_p.P219L|DTNA_ENST00000556414.3_5'Flank|DTNA_ENST00000269190.7_Missense_Mutation_p.P219L|DTNA_ENST00000269191.6_Missense_Mutation_p.P219L|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000601125.1_5'Flank|DTNA_ENST00000283365.9_Missense_Mutation_p.P219L|DTNA_ENST00000598334.1_Missense_Mutation_p.P219L|DTNA_ENST00000591182.1_5'Flank|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.P219L|DTNA_ENST00000348997.5_Missense_Mutation_p.P219L|DTNA_ENST00000315456.6_Missense_Mutation_p.P219L			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	219	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.P219Q(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATCCTCCCCCGCAGTGTCTG	0.393																																						ENST00000283365.9											5	Substitution - Missense(5)	lung(5)	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(655-657)cCg>cTg	dystrobrevin, alpha						156	152	153					18																	32395925		2203	4300	6503	SO:0001583	missense	1837			neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32395925C>T	U84540	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			2014-09-17			ENSG00000134769	ENSG00000134769	ENSG00000134769	ENSG00000134769				3057	3057	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	"dystrophin-related protein 3"	601239	601239						8081380, 15834686	8081380, 15834686	Standard	Standard	NM_001390	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	uc010dmn.1	Q9Y4J8	Q9Y4J8	OTTHUMG00000132309	OTTHUMG00000132309	ENST00000399113.3:c.656C>T	18.37:g.32395925C>T	ENSP00000382064:p.Pro219Leu		DTNA_ENST00000399121.5_Missense_Mutation_p.P219L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.P219L|DTNA_ENST00000444659.1_Missense_Mutation_p.P219L|DTNA_ENST00000554864.3_Missense_Mutation_p.P219L|DTNA_ENST00000597599.1_Missense_Mutation_p.P219L|DTNA_ENST00000315456.6_Missense_Mutation_p.P219L|DTNA_ENST00000598334.1_Missense_Mutation_p.P219L|DTNA_ENST00000598774.1_Missense_Mutation_p.P219L|DTNA_ENST00000399113.3_Missense_Mutation_p.P219L|DTNA_ENST00000348997.5_Missense_Mutation_p.P219L|DTNA_ENST00000598142.1_Missense_Mutation_p.P219L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000595022.1_Missense_Mutation_p.P219L|DTNA_ENST00000269191.6_Missense_Mutation_p.P219L	p.P219L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			8	1007	+			219	Interaction with MAGEE1 (By similarity).	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.656C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392049	0.95988	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	6.04	6.04	0.98038	6.04	6.04	0.98038	EF-hand domain, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	M	0.92219	3.285	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;0.994;0.999;1.0;1.0;1.0;0.998;1.0	D	0.96821	0.9604	10	0.87932	D	0	-17.9229	20.5948	0.99439	0.0:1.0:0.0:0.0	.	219;219;219;219;219;219;230;219;219;219;219	Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	L	219	ENSP00000283365:P219L;ENSP00000322519:P219L;ENSP00000269190:P219L;ENSP00000336682:P219L;ENSP00000382072:P219L;ENSP00000405819:P219L;ENSP00000269191:P219L;ENSP00000382064:P219L	ENSP00000269190:P219L	P	+	2	0	0	DTNA	30649923	30649923	1.000000	0.71417	0.664000	0.29753	0.943000	0.58893	7.743000	0.85020	2.873000	0.98535	0.563000	0.77884	CCG		0.393	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		239.170479	-12	-12	196	196	NM_001390		76	240.384592	240.384592	108	0.413043	0	0	0	1	0	76	108	0.413043	T	32395925	C	T	32395925	3	4	80	1	0	0	0	0	1	0	0	0	4788	652	23	1	678	1	DTNA	18	32395925	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9588399	32395925	45681323	454	1969											
TCEB3C	728929	broad.mit.edu	37	18	44549170	44549170	+	Missense_Mutation	SNP	G	G	A	rs199619018		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:44549170G>A	ENST00000451265.1	-	1	1364	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	377	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						TTCTCTGTGCGGTACGGCTGA	0.572																																						ENST00000451265.1											0			central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1129-1131)Cgc>Tgc	transcription elongation factor B polypeptide 3C-like						228	194	205					18																	44549170		1710	3416	5126	SO:0001583	missense	728929						g.chr18:44549170G>A					18q21.1	2007-07-10			2007-07-10				ENSG00000275553		ENSG00000275553				31007	31007	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001100817	NM_001100817		Approved	HsT828			Q3SY89	Q3SY89			ENST00000451265.1:c.1129C>T	18.37:g.44549170G>A	ENSP00000409932:p.Arg377Cys		KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.R377C	NM_001100817.1	NP_001094287.1					1	1364	-					Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1129C>T	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184174	0.38609	.	.	ENSG00000234298	ENST00000451265	T	0.33654	1.4	1.5	0.527	0.17084	1.5	0.527	0.17084	.	0.813513	0.10476	N	0.670186	T	0.55625	0.1932	M	0.77486	2.375	0.27479	N	0.952621	D	0.89917	1.0	D	0.74674	0.984	T	0.43734	-0.9373	10	0.87932	D	0	-9.163	6.7137	0.23292	0.0:0.0:0.7186:0.2814	.	377	Q3SY89	EA3L1_HUMAN	C	377	ENSP00000409932:R377C	ENSP00000409932:R377C	R	-	1	0	0	TCEB3CL	42803168	42803168	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	0.919000	0.28692	0.177000	0.19895	0.556000	0.70494	CGC		0.572	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1		12.035973	-2	-2	354	354	XM_001132059		18	43.600688	43.600688	173	0.094241	0	0	0	1	0	18	173	0.094241	A	44549170	G	A	44549170	3	1	80	1	0	0	0	0	1	0	0	0	15680	1116	39	1	515	1	TCEB3C	18	44549170	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	12153245	44549170	33528078	455	1970											
TCEB3C	728929	broad.mit.edu	37	18	44549182	44549182	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:44549182C>T	ENST00000451265.1	-	1	1352	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	373	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						TACGGCTGATCGGGCGTCCAC	0.582																																						ENST00000451265.1											0			central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1117-1119)Gat>Aat	transcription elongation factor B polypeptide 3C-like						260	221	234					18																	44549182		1740	3470	5210	SO:0001583	missense	728929						g.chr18:44549182C>T					18q21.1	2007-07-10			2007-07-10				ENSG00000275553		ENSG00000275553				31007	31007	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001100817	NM_001100817		Approved	HsT828			Q3SY89	Q3SY89			ENST00000451265.1:c.1117G>A	18.37:g.44549182C>T	ENSP00000409932:p.Asp373Asn		KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.D373N	NM_001100817.1	NP_001094287.1					1	1352	-					Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1117G>A	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502292	0.26949	.	.	ENSG00000234298	ENST00000451265	T	0.33654	1.4	1.5	-2.22	0.06952	1.5	-2.22	0.06952	.	1.096110	0.07174	N	0.852816	T	0.24431	0.0592	L	0.37697	1.125	0.09310	N	1	P	0.38078	0.617	B	0.29663	0.105	T	0.15983	-1.0418	10	0.48119	T	0.1	-5.2221	10.3053	0.43676	0.0:0.4154:0.5846:0.0	.	373	Q3SY89	EA3L1_HUMAN	N	373	ENSP00000409932:D373N	ENSP00000409932:D373N	D	-	1	0	0	TCEB3CL	42803180	42803180	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.782000	0.38654	-0.691000	0.05135	-1.169000	0.01745	GAT		0.582	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1		6.861004	10	10	406	406	XM_001132059		19	42.915044	42.915044	193	0.089623	0	0	0	1	0	19	193	0.089623	T	44549182	C	T	44549182	3	4	80	1	0	0	0	0	1	0	0	0	15680	884	31	1	527	1	TCEB3C	18	44549182	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12	44549182	33528066	456	1971											
ZCCHC2	54877	broad.mit.edu	37	18	60242302	60242302	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:60242302C>T	ENST00000269499.5	+	13	3406	c.2988C>T	c.(2986-2988)aaC>aaT	p.N996N	ZCCHC2_ENST00000586834.1_Silent_p.N675N	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	996						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGAACACGAACGCTAATGGGA	0.597																																						ENST00000269499.5											0			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2986-2988)aaC>aaT	zinc finger, CCHC domain containing 2						80	88	86					18																	60242302		2149	4251	6400	SO:0001819	synonymous_variant	54877			cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60242302C>T	AB051531	AB051531	CCDS45880.1	CCDS45880.1	18q21.33	2012-04-19			2012-04-19			ENSG00000141664	ENSG00000141664	ENSG00000141664	ENSG00000141664		"Zinc fingers, CCHC domain containing"	"Zinc fingers, CCHC domain containing"	22916	22916	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 18 open reading frame 49"	C18orf49	"chromosome 18 open reading frame 49"	C18orf49		11214970	11214970	Standard	Standard	NM_017742	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	uc002lip.4	Q9C0B9	Q9C0B9			ENST00000269499.5:c.2988C>T	18.37:g.60242302C>T			ZCCHC2_ENST00000586834.1_Silent_p.N675N	p.N996N	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	3406	+			996		B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.2988C>T	CCDS45880.1																																																																																									0.597	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1		9.589140	-16	-16	26	26	NM_017742		4	11.062169	11.062169	15	0.210526	0	0	0	1	0	4	15	0.210526	T	60242302	C	T	60242302	2	4	80	1	0	0	0	0	0	0	0	1	17584	535	19	1		1	ZCCHC2	18	60242302	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15693120	60242302	17834946	457	1972											
CDH7	1005	broad.mit.edu	37	18	63511118	63511118	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:63511118G>A	ENST00000397968.2	+	7	1478	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	CDH7_ENST00000536984.2_Missense_Mutation_p.R351H|CDH7_ENST00000323011.3_Missense_Mutation_p.R351H	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	351	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|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)				GCCGACCCTCGCTTTCTGAGC	0.443																																						ENST00000536984.2											0			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						c.(1051-1053)cGc>cAc	cadherin 7, type 2						139	123	128					18																	63511118		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.chr18:63511118G>A	AB035301	AB035301	CCDS11993.1	CCDS11993.1	18q22.1	2010-01-26			2010-01-26			ENSG00000081138	ENSG00000081138	ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	"Cadherins / Major cadherins"	1766	1766	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605806	605806						9615235	9615235	Standard	Standard	NM_033646	NM_033646		Approved		uc002ljz.3	uc002ljz.3	Q9ULB5	Q9ULB5	OTTHUMG00000132800	OTTHUMG00000132800	ENST00000397968.2:c.1052G>A	18.37:g.63511118G>A	ENSP00000381058:p.Arg351His		CDH7_ENST00000323011.3_Missense_Mutation_p.R351H|CDH7_ENST00000397968.2_Missense_Mutation_p.R351H	p.R351H			Q9ULB5	CADH7_HUMAN			7	1746	+		Esophageal squamous(42;0.129)	351	Cadherin 3.	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1052G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	9.989	1.230364	0.22542	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.38401	1.14;1.14;1.14	5.04	4.17	0.49024	5.04	4.17	0.49024	Cadherin (4);Cadherin-like (1);	0.299368	0.37623	N	0.002018	T	0.55337	0.1914	M	0.78223	2.4	0.30939	N	0.726055	P;D	0.71674	0.495;0.998	B;P	0.59056	0.119;0.851	T	0.64058	-0.6496	10	0.52906	T	0.07	.	13.7615	0.62968	0.0742:0.0:0.9258:0.0	.	351;351	F5H5X9;Q9ULB5	.;CADH7_HUMAN	H	351	ENSP00000319166:R351H;ENSP00000443030:R351H;ENSP00000381058:R351H	ENSP00000319166:R351H	R	+	2	0	0	CDH7	61662098	61662098	0.998000	0.40836	0.126000	0.21872	0.089000	0.18198	3.288000	0.51739	1.483000	0.48342	0.655000	0.94253	CGC		0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2		59.521757	4	4	79	79	NM_033646		22	62.692457	62.692457	55	0.285714	0	0	0	1	0	22	55	0.285714	A	63511118	G	A	63511118	3	1	80	1	0	0	0	0	1	0	0	0	3115	1087	38	1	1074	1	CDH7	18	63511118	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3268816	63511118	14566130	458	1973											
SALL3	27164	broad.mit.edu	37	18	76754682	76754682	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:76754682C>T	ENST00000537592.2	+	2	2691	c.2691C>T	c.(2689-2691)tcC>tcT	p.S897S	SALL3_ENST00000575389.2_Silent_p.S897S|SALL3_ENST00000536229.3_Silent_p.S764S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	897	Poly-Ser.				forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGCCCTGTCCGAGTCCTCGT	0.731																																						ENST00000536229.3											0			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2290-2292)tcC>tcT	spalt-like transcription factor 3						11	14	13					18																	76754682		2034	4017	6051	SO:0001819	synonymous_variant	27164			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754682C>T	AJ007421	AJ007421	CCDS12013.1	CCDS12013.1	18q23	2013-10-17	2013-10-17		2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463	ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	"Zinc fingers, C2H2-type"	10527	10527	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605079	605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"		"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	10610715	Standard	Standard	NM_171999	NM_171999		Approved	ZNF796	uc002lmt.3	uc002lmt.3	Q9BXA9	Q9BXA9	OTTHUMG00000132896	OTTHUMG00000132896	ENST00000537592.2:c.2691C>T	18.37:g.76754682C>T			SALL3_ENST00000537592.2_Silent_p.S897S|SALL3_ENST00000575389.2_Silent_p.S897S	p.S764S			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	3001	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	897		Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2292C>T	CCDS12013.1																																																																																									0.731	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1		50.533232	-1	-1	29	29	NM_171999		15	51.180417	51.180417	7	0.681818	0	0	0	1	0	15	7	0.681818	T	76754682	C	T	76754682	2	4	80	1	0	0	0	0	0	0	0	1	13812	639	23	1		1	SALL3	18	76754682	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13243564	76754682	1322566	459	1974											
ABCA7	10347	broad.mit.edu	37	19	1054604	1054604	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:1054604C>T	ENST00000263094.6	+	28	3993	c.3762C>T	c.(3760-3762)ctC>ctT	p.L1254L	ABCA7_ENST00000433129.1_Silent_p.L1254L|ABCA7_ENST00000435683.2_Silent_p.L1116L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1254					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGGCCCTCGTGTTCAGCC	0.632																																						ENST00000263094.6											0			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(3760-3762)ctC>ctT	ATP-binding cassette, sub-family A (ABC1), member 7						89	67	74					19																	1054604		2203	4300	6503	SO:0001819	synonymous_variant	10347			phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1054604C>T	AF328787	AF328787	CCDS12055.1	CCDS12055.1	19p13.3	2012-03-14			2012-03-14			ENSG00000064687	ENSG00000064687	ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	"ATP binding cassette transporters / subfamily A"	37	37	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605414	605414								Standard	Standard	NM_019112	NM_019112		Approved	ABCX	uc002lqw.4	uc002lqw.4	Q8IZY2	Q8IZY2	OTTHUMG00000167547	OTTHUMG00000167547	ENST00000263094.6:c.3762C>T	19.37:g.1054604C>T			ABCA7_ENST00000435683.2_Silent_p.L1116L|ABCA7_ENST00000433129.1_Silent_p.L1254L	p.L1254L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	28	3993	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1254		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.3762C>T	CCDS12055.1																																																																																									0.632	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1		4.310128	5	5	42	42	NM_019112		3	7.364893	7.364893	20	0.130435	0	0	0	1	0	3	20	0.130435	T	1054604	C	T	1054604	2	4	80	1	0	0	0	0	0	0	0	1	37	871	31	1		1	ABCA7	19	1054604	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		1054604	58074379	460	1975											
MUM1	84939	broad.mit.edu	37	19	1360196	1360196	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:1360196C>T	ENST00000415183.3	+	4	305	c.279C>T	c.(277-279)cgC>cgT	p.R93R	MUM1_ENST00000591806.1_Silent_p.R93R|MUM1_ENST00000311401.5_Silent_p.R24R|MUM1_ENST00000344663.3_Silent_p.R93R			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	92					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCGCTTCGCGTGGCTCTGG	0.587											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311401.5											0			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(70-72)cgC>cgT	melanoma associated antigen (mutated) 1						75	73	74					19																	1360196		2203	4300	6503	SO:0001819	synonymous_variant	84939			chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1360196C>T	AK075241	AK075241	CCDS12062.1	CCDS12062.1	19p13.3	2008-02-05			2008-02-05				ENSG00000160953		ENSG00000160953				29641	29641	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11042152, 7644523	11042152, 7644523	Standard	Standard	NM_032853	NM_032853		Approved	MUM-1	uc002lrz.2	uc002lrz.2	Q2TAK8	Q2TAK8			ENST00000415183.3:c.279C>T	19.37:g.1360196C>T		595	MUM1_ENST00000415183.3_Silent_p.R93R|MUM1_ENST00000591806.1_Silent_p.R93R|MUM1_ENST00000344663.3_Silent_p.R93R	p.R24R			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	458	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	92		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Silent	SNP	ENST00000415183.3	37	c.72C>T																																																																																										0.587	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1		12.897864	7	7	64	64	NM_032853		7	17.32376	17.32376	35	0.166667	0	0	0	1	0	7	35	0.166667	T	1360196	C	T	1360196	2	4	80	1	0	0	0	0	0	0	0	1	9985	755	27	1		1	MUM1	19	1360196	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	305592	1360196	57768787	461	1976											
REXO1	57455	broad.mit.edu	37	19	1828397	1828397	+	Missense_Mutation	SNP	C	C	T	rs202065048	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:1828397C>T	ENST00000170168.4	-	2	485	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	131						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTTggggccgcggggcgcc	0.731													.|||	3	0.000599042	0	0.0014	5008	,	,		11697	0.002		0	False		,,,				2504	0					ENST00000170168.4											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(391-393)Ggc>Agc	REX1, RNA exonuclease 1 homolog (S. cerevisiae)																																			SO:0001583	missense	57455				nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828397C>T	AB032964	AB032964	CCDS32866.1	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313	ENSG00000079313	ENSG00000079313				24616	24616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"elongin A binding protein 1"	"elongin A binding protein 1"	609614	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	10574461	Standard	Standard	NM_020695	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	uc002lua.4	Q8N1G1	Q8N1G1	OTTHUMG00000179991	OTTHUMG00000179991	ENST00000170168.4:c.391G>A	19.37:g.1828397C>T	ENSP00000170168:p.Gly131Ser		REXO1_ENST00000587524.1_5'UTR	p.G131S	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	485	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	131		Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.391G>A	CCDS32866.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.356	-0.942275	0.02322	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.10860	2.83	3.42	-0.681	0.11342	3.42	-0.681	0.11342	.	1.624920	0.03428	N	0.207374	T	0.05456	0.0144	N	0.17474	0.49	0.09310	N	1	B;B	0.31817	0.341;0.001	B;B	0.19148	0.024;0.001	T	0.29212	-1.0019	10	0.08179	T	0.78	-10.4205	6.959	0.24587	0.0:0.2925:0.0:0.7075	.	85;131	F5H016;Q8N1G1	.;REXO1_HUMAN	S	131;85	ENSP00000170168:G131S	ENSP00000170168:G131S	G	-	1	0	0	REXO1	1779397	1779397	0.001000	0.12720	0.006000	0.13384	0.001000	0.01503	0.079000	0.14782	0.066000	0.16515	-0.448000	0.05591	GGC		0.731	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1		6.815597	-5	-5	20	20	NM_020695		3	8.278564	8.278564	13	0.1875	0	0	0	1	0	3	13	0.1875	T	1828397	C	T	1828397	3	4	80	1	0	0	0	0	1	0	0	0	13241	652	23	1	3334	1	REXO1	19	1828397	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	468201	1828397	57300586	462	1977											
AP3D1	8943	broad.mit.edu	37	19	2118737	2118737	+	Missense_Mutation	SNP	C	C	T	rs369318068	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:2118737C>T	ENST00000345016.5	-	15	1807	c.1576G>A	c.(1576-1578)Gtg>Atg	p.V526M	AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000350812.6_Missense_Mutation_p.V357M|AP3D1_ENST00000355272.6_Missense_Mutation_p.V526M|AP3D1_ENST00000356926.4_Missense_Mutation_p.V435M	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	526					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTGACCACGTTCTGCACA	0.652													C|||	4	0.000798722	8e-04	0.0029	5008	,	,		19537	0		0.001	False		,,,				2504	0					ENST00000355272.6											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1576-1578)Gtg>Atg	adaptor-related protein complex 3, delta 1 subunit	C	MET/VAL,MET/VAL	0,4394		0,0,2197	58	65	63		1303,1576	3.5	1	19		63	2,8592	1.2+/-3.3	0,2,4295	no	missense,missense	AP3D1	NM_001077523.1,NM_003938.5	21,21	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	435/1113,526/1154	2118737	2,12986	2197	4297	6494	SO:0001583	missense	8943			eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2118737C>T	U91930	U91930	CCDS42459.1, CCDS58638.1	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			2014-09-04			ENSG00000065000	ENSG00000065000	ENSG00000065000	ENSG00000065000				568	568	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607246	607246						9151686, 9303295	9151686, 9303295	Standard	Standard	NM_003938	NM_003938		Approved	ADTD	uc002lva.4	uc002lva.4	O14617	O14617	OTTHUMG00000180354	OTTHUMG00000180354	ENST00000345016.5:c.1576G>A	19.37:g.2118737C>T	ENSP00000344055:p.Val526Met		AP3D1_ENST00000356926.4_Missense_Mutation_p.V435M|AP3D1_ENST00000345016.5_Missense_Mutation_p.V526M|AP3D1_ENST00000350812.6_Missense_Mutation_p.V357M	p.V526M	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1782	-		Hepatocellular(1079;0.137)	526		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1576G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126098	0.37533	0.0	2.33E-4	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.82	3.55	0.40652	4.82	3.55	0.40652	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.249984	0.40302	N	0.001127	T	0.11750	0.0286	L	0.49571	1.57	0.40710	D	0.982562	P;P;P	0.41265	0.676;0.709;0.744	B;B;B	0.34590	0.101;0.157;0.186	T	0.04693	-1.0933	10	0.56958	D	0.05	-44.5581	9.6945	0.40150	0.0:0.8407:0.0:0.1593	.	526;526;435	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	M	435;526;526;526;357	ENSP00000349398:V435M;ENSP00000344055:V526M;ENSP00000347416:V526M;ENSP00000342321:V357M	ENSP00000341579:V526M	V	-	1	0	0	AP3D1	2069737	2069737	0.996000	0.38824	1.000000	0.80357	0.771000	0.43674	3.004000	0.49513	2.239000	0.73571	0.561000	0.74099	GTG		0.652	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1		19.380470	-14	-14	26	26			8	22.128886	22.128886	29	0.216216	0	0	0	1	0	8	29	0.216216	T	2118737	C	T	2118737	3	4	80	1	0	0	0	0	1	0	0	0	746	536	19	1	2107	1	AP3D1	19	2118737	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	290340	2118737	57010246	463	1978											
SF3A2	8175	broad.mit.edu	37	19	2243426	2243426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:2243426delC	ENST00000221494.5	+	2	427	c.9delC	c.(7-9)ttcfs	p.F3fs		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	3					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATGGACTTCCAGCATCGCC	0.662																																						ENST00000221494.5											0			NS(1)|large_intestine(1)|lung(2)	4						c.(7-9)ttcfs	splicing factor 3a, subunit 2, 66kDa						37	45	42					19																	2243426		2202	4299	6501	SO:0001589	frameshift_variant	8175			nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2243426delC	L21990	L21990	CCDS12084.1	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897	ENSG00000104897	ENSG00000104897				10766	10766	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600796	600796	"splicing factor 3a, subunit 2, 66kD"		"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	8211113, 8541848	Standard	Standard	NM_007165	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	uc002lvg.3	Q15428	Q15428	OTTHUMG00000180414	OTTHUMG00000180414	ENST00000221494.5:c.9delC	19.37:g.2243426delC	ENSP00000221494:p.Phe3fs			p.F3fs	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	427	+		Hepatocellular(1079;0.137)			B2RBU1|D6W605|O75245	Frame_Shift_Del	DEL	ENST00000221494.5	37	c.9delC	CCDS12084.1																																																																																									0.662	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3	.	.	-11	-11	35	35			9			16	0.36						9	16	0.36	-	2243426	C	-	2243426	7	5	80	1	0	1	0	1	0	0	0	0	14147	854	30	0	11	0	SF3A2	19	2243426	Frame_Shift_Del	DEL	C	TCGA-YZ-A985-01A-11D-A39W-08	124689	2243426	56885557	464	1979											
AES	166	hgsc.bcm.edu	37	19	3061247	3061247	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3061247C>T	ENST00000327141.4	-	2	392	c.36G>A	c.(34-36)tcG>tcA	p.S12S	AES_ENST00000592330.1_5'UTR|AES_ENST00000221561.8_Silent_p.S79S|AES_ENST00000586839.1_5'UTR	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	12	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTAGGTGCGAGGAGCCCT	0.667																																					Pancreas(11;265 407 11814 26840 35326)												0																	125	123	123					19																	3061247		2203	4300	6503	SO:0001819	synonymous_variant	166							AK094591	AK094591	CCDS12101.1, CCDS12102.1	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05			2008-02-05										307	307	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600188	600188						8365415	8365415	Standard	Standard	NM_001130	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	uc002lwx.1	Q08117	Q08117			ENST00000327141.4:c.36G>A	19.37:g.3061247C>T																		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Silent	SNP	ENST00000327141.4	37		CCDS12102.1																																																																																									0.667	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1			20	20	133	133	NM_198969		12			69							12	69		T	3061247	C	T	3061247	2	4	80	1	0	0	0	0	0	0	0	1	352	755	27	1		1	AES	19	3061247	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	817821	3061247	56067736	465	1980											
GNA11	2767	broad.mit.edu	37	19	3115012	3115012	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3115012C>T	ENST00000078429.4	+	4	789	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	183					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.R183C(5)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCTGCGGGTCCGCGTGCCCAC	0.672			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"		E	5	Substitution - Missense(5)	eye(4)|skin(1)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(547-549)Cgc>Tgc	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						106	97	100					19																	3115012		2203	4299	6502	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3115012C>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"hypocalciuric hypercalcemia 2"	HHC2	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.547C>T	19.37:g.3115012C>T	ENSP00000078429:p.Arg183Cys			p.R183C	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	4	789	+		Hepatocellular(1079;0.137)	183		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.547C>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.984974	0.74474	.	.	ENSG00000088256	ENST00000078429	D	0.92199	-2.99	3.92	2.82	0.32997	3.92	2.82	0.32997	G protein alpha subunit, helical insertion (1);	0.000000	0.64402	D	0.000007	D	0.97448	0.9165	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96915	0.9670	10	0.87932	D	0	.	10.0525	0.42225	0.4339:0.5661:0.0:0.0	.	183	P29992	GNA11_HUMAN	C	183	ENSP00000078429:R183C	ENSP00000078429:R183C	R	+	1	0	0	GNA11	3066012	3066012	0.975000	0.34042	0.981000	0.43875	0.991000	0.79684	2.467000	0.45093	1.752000	0.51891	0.556000	0.70494	CGC		0.672	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		106.340323	-27	-27	135	135	NM_002067		34	106.6193	106.6193	44	0.435897	0	0	0	1	0	34	44	0.435897	T	3115012	C	T	3115012	3	4	80	1	0	0	0	0	1	0	0	0	6499	652	23	1	561	1	GNA11	19	3115012	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	53765	3115012	56013971	466	1981											
S1PR4	8698	broad.mit.edu	37	19	3179432	3179432	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3179432C>T	ENST00000246115.3	+	1	697	c.642C>T	c.(640-642)ggC>ggT	p.G214G	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	214					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCTTCGCCGGCGTCCTGGCCA	0.682																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3											0			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(640-642)ggC>ggT	sphingosine-1-phosphate receptor 4						118	124	122					19																	3179432		2203	4300	6503	SO:0001819	synonymous_variant	8698			activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179432C>T	AJ000479	AJ000479	CCDS12105.1	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	3170	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603751	603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	9790765	Standard	Standard	NM_003775	NM_003775		Approved		uc002lxg.3	uc002lxg.3	O95977	O95977			ENST00000246115.3:c.642C>T	19.37:g.3179432C>T			S1PR4_ENST00000591346.1_3'UTR	p.G214G	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	697	+			214		D6W612	Silent	SNP	ENST00000246115.3	37	c.642C>T	CCDS12105.1																																																																																									0.682	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1		109.682530	-17	-17	224	224	NM_003775		42	117.344314	117.344314	115	0.267516	0	0	0	1	0	42	115	0.267516	T	3179432	C	T	3179432	2	4	80	1	0	0	0	0	0	0	0	1	13796	755	27	1		1	S1PR4	19	3179432	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	64420	3179432	55949551	467	1982											
MATK	4145	broad.mit.edu	37	19	3778526	3778526	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3778526C>T	ENST00000310132.6	-	13	1663	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q	MATK_ENST00000395045.2_Missense_Mutation_p.R423Q|MATK_ENST00000585778.1_Missense_Mutation_p.R421Q|MATK_ENST00000395040.2_Missense_Mutation_p.R381Q	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	422	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACGGAGCCCGTCCATATGA	0.647																																						ENST00000310132.6											0			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(1264-1266)cGg>cAg	megakaryocyte-associated tyrosine kinase						55	59	58					19																	3778526		2203	4299	6502	SO:0001583	missense	4145			cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3778526C>T	L18974	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14			2013-02-14								"SH2 domain containing"	"SH2 domain containing"	6906	6906	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038	600038						8288563, 7530249	8288563, 7530249	Standard	Standard	NM_139355	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	uc002lyt.3	P42679	P42679			ENST00000310132.6:c.1265G>A	19.37:g.3778526C>T	ENSP00000308734:p.Arg422Gln		MATK_ENST00000395045.2_Missense_Mutation_p.R423Q|MATK_ENST00000585778.1_Missense_Mutation_p.R421Q|MATK_ENST00000395040.2_Missense_Mutation_p.R381Q	p.R422Q	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1663	-		Hepatocellular(1079;0.137)	422	Protein kinase.	B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.1265G>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221554	0.79464	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.82255	-1.59;-1.59;-1.59	3.74	3.74	0.42951	3.74	3.74	0.42951	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.079304	0.51477	D	0.000084	T	0.81669	0.4871	N	0.05510	-0.035	0.48830	D	0.999713	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	D	0.86103	0.1557	10	0.87932	D	0	-28.0087	14.7571	0.69572	0.0:1.0:0.0:0.0	.	422;423;422	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	Q	423;422;381	ENSP00000378485:R423Q;ENSP00000308734:R422Q;ENSP00000378481:R381Q	ENSP00000308734:R422Q	R	-	2	0	0	MATK	3729526	3729526	1.000000	0.71417	0.906000	0.35671	0.542000	0.35054	4.592000	0.61027	1.944000	0.56390	0.543000	0.68304	CGG		0.647	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1		17.145791	1	1	24	24	NM_139355		6	17.365341	17.365341	10	0.375	0	0	0	1	0	6	10	0.375	T	3778526	C	T	3778526	3	4	80	1	0	0	0	0	1	0	0	0	9332	652	23	1	266	1	MATK	19	3778526	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	599094	3778526	55350457	468	1983											
ZBTB7A	51341	broad.mit.edu	37	19	4054867	4054867	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:4054867C>T	ENST00000322357.4	-	2	642	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.V122M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	122					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGCGCACACGTGGCTCACG	0.677																																						ENST00000322357.4											0			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(364-366)Gtg>Atg	zinc finger and BTB domain containing 7A						22	21	21					19																	4054867		2189	4295	6484	SO:0001583	missense	51341			cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054867C>T	AF000561	AF000561	CCDS12119.1	CCDS12119.1	19p13.3	2013-01-08		2005-04-07	2013-01-08		2005-04-07		ENSG00000178951		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	18078	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	605878	"zinc finger and BTB domain containing 7"	ZBTB7	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	9973611, 9927193	Standard	Standard	NM_015898	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	uc002lzi.3	O95365	O95365			ENST00000322357.4:c.364G>A	19.37:g.4054867C>T	ENSP00000323670:p.Val122Met		ZBTB7A_ENST00000601588.1_Missense_Mutation_p.V122M	p.V122M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	642	-		Hepatocellular(1079;0.137)	122		D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.364G>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555856	0.86231	.	.	ENSG00000178951	ENST00000322357	T	0.67865	-0.29	5.07	5.07	0.68467	5.07	5.07	0.68467	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000004	T	0.78470	0.4288	L	0.53561	1.675	0.54753	D	0.999986	D	0.89917	1.0	D	0.71656	0.974	T	0.80209	-0.1477	10	0.62326	D	0.03	.	17.417	0.87503	0.0:1.0:0.0:0.0	.	122	O95365	ZBT7A_HUMAN	M	122	ENSP00000323670:V122M	ENSP00000323670:V122M	V	-	1	0	0	ZBTB7A	4005867	4005867	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.594000	0.82698	2.353000	0.79882	0.462000	0.41574	GTG		0.677	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2		12.198189	-10	-10	12	12	NM_015898		4	12.285584	12.285584	6	0.4	0	0	0	1	0	4	6	0.4	T	4054867	C	T	4054867	3	4	80	1	0	0	0	0	1	0	0	0	17550	536	19	1	1398	1	ZBTB7A	19	4054867	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	276341	4054867	55074116	469	1984											
HSD11B1L	374875	broad.mit.edu	37	19	5687649	5687649	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:5687649G>A	ENST00000423665.2	+	7	888	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	RPL36_ENST00000394580.2_5'Flank|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.R213Q|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581521.1_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000411793.2_Missense_Mutation_p.R79Q|RPL36_ENST00000579446.1_5'Flank|HSD11B1L_ENST00000581893.1_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.R132Q|HSD11B1L_ENST00000339423.2_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000577917.1_Missense_Mutation_p.R132Q|HSD11B1L_ENST00000342970.2_Missense_Mutation_p.R126Q|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000347512.3_5'Flank|HSD11B1L_ENST00000583928.1_Missense_Mutation_p.R79Q|RPL36_ENST00000579649.1_Intron	NM_198533.2	NP_940935.1	Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	213						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)										CTGGGCCTCCGAGATCGCGCC	0.721																																						ENST00000581521.1											0										c.(637-639)cGa>cAa	hydroxysteroid (11-beta) dehydrogenase 1-like						17	19	18					19																	5687649		2198	4293	6491	SO:0001583	missense	374875				extracellular region	binding|oxidoreductase activity	g.chr19:5687649G>A	AY268353	AY268353	CCDS12144.1, CCDS12145.1, CCDS12146.1, CCDS45931.1, CCDS45932.1, CCDS58641.1, CCDS58642.1, CCDS74266.1	CCDS12144.1, CCDS12145.1, CCDS12146.1, CCDS45931.1, CCDS45932.1, CCDS58641.1, CCDS58642.1, CCDS74266.1	19p13.3	2011-09-20			2011-09-20				ENSG00000167733		ENSG00000167733	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30419	30419	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase 10", "short chain dehydrogenase/reductase family 26C, member 2"	"short chain dehydrogenase/reductase 10", "short chain dehydrogenase/reductase family 26C, member 2"								12477932	12477932	Standard	Standard	NM_001267868	NM_001267868		Approved	SCDR10, SDR26C2	uc010dug.4	uc010dug.4	Q7Z5J1	Q7Z5J1			ENST00000423665.2:c.638G>A	19.37:g.5687649G>A	ENSP00000407154:p.Arg213Gln		HSD11B1L_ENST00000339423.2_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.R132Q|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000577917.1_Missense_Mutation_p.R132Q|HSD11B1L_ENST00000411793.2_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.R213Q|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581893.1_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000423665.2_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000583928.1_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000342970.2_Missense_Mutation_p.R126Q	p.R213Q			Q7Z5J1	DHI1L_HUMAN			9	1113	+			213		Q05D45|Q52LF4|Q7Z5I9|Q7Z5J0|Q7Z5P5|Q7Z5P6|Q7Z5P7|Q7Z5P8	Missense_Mutation	SNP	ENST00000423665.2	37	c.638G>A	CCDS45931.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474145	0.26423	.	.	ENSG00000167733	ENST00000411793;ENST00000301382;ENST00000423665;ENST00000342970;ENST00000339423	D;T;T;T;T	0.82255	-1.59;0.73;0.73;0.73;0.73	2.78	0.379	0.16213	2.78	0.379	0.16213	.	0.098975	0.42053	U	0.000762	T	0.61540	0.2355	L	0.27053	0.805	0.09310	N	1	B;B;P;B;B;P	0.38745	0.236;0.04;0.645;0.04;0.04;0.513	B;B;B;B;B;B	0.23150	0.036;0.003;0.044;0.01;0.005;0.019	T	0.58188	-0.7680	10	0.87932	D	0	.	3.5427	0.07818	0.2496:0.0:0.5084:0.242	.	126;79;132;213;132;213	Q7Z5J1-5;Q7Z5J1-7;Q7Z5J1-6;Q7Z5J1-2;Q7Z5J1-3;Q7Z5J1	.;.;.;.;.;DHI1L_HUMAN	Q	79;132;213;126;213	ENSP00000398955:R79Q;ENSP00000301382:R132Q;ENSP00000407154:R213Q;ENSP00000343451:R126Q;ENSP00000340436:R213Q	ENSP00000301382:R132Q	R	+	2	0	0	HSD11B1L	5638649	5638649	0.809000	0.29036	0.456000	0.27044	0.543000	0.35085	0.464000	0.21988	0.033000	0.15463	-0.266000	0.10368	CGA		0.721	HSD11B1L-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000442573.1		8.421932	-3	-3	7	7	NM_198706		3	8.643371	8.643371	6	0.333333	0	0	0	1	0	3	6	0.333333	A	5687649	G	A	5687649	3	1	80	1	0	0	0	0	1	0	0	0	7376	1058	37	1	660	1	HSD11B1L	19	5687649	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1632782	5687649	53441334	470	1985											
VAV1	7409	broad.mit.edu	37	19	6836478	6836478	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:6836478G>A	ENST00000602142.1	+	20	1895	c.1813G>A	c.(1813-1815)Ggg>Agg	p.G605R	VAV1_ENST00000596764.1_Missense_Mutation_p.G573R|VAV1_ENST00000539284.1_Missense_Mutation_p.G508R|VAV1_ENST00000304076.2_Missense_Mutation_p.G605R|VAV1_ENST00000599806.1_Missense_Mutation_p.G550R	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	605					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAATACTACGGGCTTCCTCC	0.557																																						ENST00000304076.2											0			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1813-1815)Ggg>Agg	vav 1 guanine nucleotide exchange factor						72	60	64					19																	6836478		2203	4300	6503	SO:0001583	missense	7409			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6836478G>A			CCDS12174.1, CCDS59341.1, CCDS59342.1	CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25		2013-02-14	2007-07-25			ENSG00000141968		ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	12657	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			164875	164875	"vav 1 oncogene"	VAV	"vav 1 oncogene"	VAV		9438848	9438848	Standard	Standard	NM_005428	NM_005428		Approved		uc010xjh.2	uc010xjh.2	P15498	P15498			ENST00000602142.1:c.1813G>A	19.37:g.6836478G>A	ENSP00000472929:p.Gly605Arg		VAV1_ENST00000596764.1_Missense_Mutation_p.G573R|VAV1_ENST00000599806.1_Missense_Mutation_p.G550R|VAV1_ENST00000602142.1_Missense_Mutation_p.G605R|VAV1_ENST00000539284.1_Missense_Mutation_p.G508R	p.G605R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			20	1907	+			605		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1813G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376527	0.61735	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.75589	1.44;-0.95	4.29	4.29	0.51040	4.29	4.29	0.51040	Src homology-3 domain (2);	0.183893	0.46442	D	0.000299	D	0.82472	0.5044	M	0.67700	2.07	0.49687	D	0.999813	D;D;D;D	0.76494	0.997;0.983;0.999;0.997	P;P;P;P	0.61397	0.826;0.552;0.888;0.888	D	0.85005	0.0902	10	0.72032	D	0.01	.	14.2896	0.66268	0.0:0.0:1.0:0.0	.	508;605;550;605	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	R	605;508	ENSP00000302269:G605R;ENSP00000443242:G508R	ENSP00000302269:G605R	G	+	1	0	0	VAV1	6787478	6787478	1.000000	0.71417	0.160000	0.22671	0.790000	0.44656	6.684000	0.74538	1.963000	0.57068	0.478000	0.44815	GGG		0.557	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		5.512118	10	10	47	47			3	7.860565	7.860565	17	0.15	0	0	0	1	0	3	17	0.15	A	6836478	G	A	6836478	3	1	80	1	0	0	0	0	1	0	0	0	17128	1116	39	1	1891	1	VAV1	19	6836478	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1148829	6836478	52292505	471	1986											
XAB2	56949	ucsc.edu	37	19	7685536	7685536	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:7685536G>A	ENST00000358368.4	-	15	2028	c.1991C>T	c.(1990-1992)gCg>gTg	p.A664V	XAB2_ENST00000534844.1_Missense_Mutation_p.A661V	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	664					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CATCTCACGCGCGTGCTCGTC	0.662								Direct reversal of damage;Nucleotide excision repair (NER)																																									0																	33	34	34					19																	7685536		2203	4300	6503	SO:0001583	missense	56949							AB026111	AB026111	CCDS32892.1	CCDS32892.1	19p13.3	2013-08-21			2013-08-21				ENSG00000076924		ENSG00000076924				14089	14089	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850	610850						10944529	10944529	Standard	Standard	NM_020196	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	uc002mgx.3	Q9HCS7	Q9HCS7			ENST00000358368.4:c.1991C>T	19.37:g.7685536G>A	ENSP00000351137:p.Ala664Val																	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37		CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	8.058	0.767491	0.15983	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.42900	0.96;0.96	4.31	3.26	0.37387	4.31	3.26	0.37387	Tetratricopeptide-like helical (1);	0.142130	0.46145	N	0.000312	T	0.32941	0.0846	L	0.49571	1.57	0.50632	D	0.999885	B	0.28584	0.216	B	0.19666	0.026	T	0.09378	-1.0677	10	0.24483	T	0.36	-25.3541	11.0621	0.47953	0.0929:0.0:0.9071:0.0	.	664	Q9HCS7	SYF1_HUMAN	V	664;661	ENSP00000351137:A664V;ENSP00000438225:A661V	ENSP00000351137:A664V	A	-	2	0	0	XAB2	7591536	7591536	0.832000	0.29368	0.839000	0.33178	0.046000	0.14306	3.857000	0.55972	1.018000	0.39521	0.460000	0.39030	GCG		0.662	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1			-3	-3	57	57	NM_020196		5			35							5	35		A	7685536	G	A	7685536	3	1	80	1	0	0	0	0	1	0	0	0	17415	1087	38	1	596	1	XAB2	19	7685536	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	849058	7685536	51443447	472	1987											
MYO1F	4542	broad.mit.edu	37	19	8601203	8601203	+	Missense_Mutation	SNP	G	G	A	rs201138222		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:8601203G>A	ENST00000338257.8	-	19	2243	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	659	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CATGTTGACCGCCCGAAGCAG	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		13502	0		0	False		,,,				2504	0					ENST00000338257.8											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1975-1977)gCg>gTg	myosin IF						67	68	68					19																	8601203		2030	4210	6240	SO:0001583	missense	4542				unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8601203G>A	X98411	X98411	CCDS42494.1	CCDS42494.1	19p13.3-p13.2	2011-09-27			2011-09-27			ENSG00000142347	ENSG00000142347	ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	"Myosins / Myosin superfamily : Class I"	7600	7600	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601480	601480						9119401, 8884266	9119401, 8884266	Standard	Standard	NM_012335	NM_012335		Approved		uc002mkg.3	uc002mkg.3	O00160	O00160	OTTHUMG00000156005	OTTHUMG00000156005	ENST00000338257.8:c.1976C>T	19.37:g.8601203G>A	ENSP00000344871:p.Ala659Val			p.A659V	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			19	2243	-			659	Myosin head-like.	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1976C>T	CCDS42494.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.8	4.333385	0.81801	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87966	-2.32	4.51	4.51	0.55191	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.067309	0.64402	D	0.000010	D	0.84615	0.5511	M	0.65975	2.015	0.41335	D	0.987269	P	0.40250	0.709	B	0.33454	0.164	D	0.86832	0.2011	10	0.51188	T	0.08	.	16.2491	0.82473	0.0:0.0:1.0:0.0	.	659	O00160	MYO1F_HUMAN	V	704;659	ENSP00000344871:A659V	ENSP00000304899:A704V	A	-	2	0	0	MYO1F	8507203	8507203	1.000000	0.71417	0.624000	0.29186	0.904000	0.53231	9.781000	0.99029	2.076000	0.62316	0.454000	0.30748	GCG		0.637	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		8.522471	-2	-2	53	53			6	12.997189	12.997189	33	0.153846	0	0	0	1	0	6	33	0.153846	A	8601203	G	A	8601203	3	1	80	1	0	0	0	0	1	0	0	0	10073	1087	38	1	1360	1	MYO1F	19	8601203	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	915667	8601203	50527780	473	1988											
MUC16	94025	broad.mit.edu	37	19	9091523	9091523	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:9091523C>T	ENST00000397910.4	-	1	495	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	98	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCTTTGCTCGGAGTGTGTC	0.542																																						ENST00000397910.4											0			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(292-294)Gag>Aag	mucin 16, cell surface associated						137	134	135					19																	9091523		1982	4166	6148	SO:0001583	missense	94025			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091523C>T	AF414442	AF414442	CCDS54212.1	CCDS54212.1	19p13.2	2008-02-05	2006-03-14		2008-02-05	2006-03-14			ENSG00000181143		ENSG00000181143		"Mucins"	"Mucins"	15582	15582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606154	606154						11369781	11369781	Standard	Standard	XM_006722941	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	uc002mkp.3	Q8WXI7	Q8WXI7			ENST00000397910.4:c.292G>A	19.37:g.9091523C>T	ENSP00000381008:p.Glu98Lys			p.E98K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	495	-			98	Thr-rich.	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.292G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.368	0.253081	0.10185	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.01	-0.119	0.13543	1.01	-0.119	0.13543	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.27679	0.185	B	0.14023	0.01	T	0.44112	-0.9349	8	0.87932	D	0	.	3.4185	0.07385	0.0:0.7053:0.0:0.2947	.	98	B5ME49	.	K	98	ENSP00000381008:E98K	ENSP00000381008:E98K	E	-	1	0	0	MUC16	8952523	8952523	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	-1.277000	0.02812	0.010000	0.14839	0.313000	0.20887	GAG		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		-5.653190	7	7	97	97	NM_024690		4	8.480014	8.480014	65	0.057971	0	0	0	1	0	4	65	0.057971	T	9091523	C	T	9091523	3	4	80	1	0	0	0	0	1	0	0	0	9973	893	31	1	43567	1	MUC16	19	9091523	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	490320	9091523	50037460	474	1989											
KRI1	65095	broad.mit.edu	37	19	10671902	10671902	+	Silent	SNP	G	G	A	rs565439115		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:10671902G>A	ENST00000312962.6	-	7	565	c.546C>T	c.(544-546)ggC>ggT	p.G182G	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.G178G	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	176	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)			CCTCCCCAGCGCCGTCCTCGT	0.642													G|||	1	0.000199681	0	0	5008	,	,		16454	0		0	False		,,,				2504	0.001					ENST00000312962.6											0			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						c.(544-546)ggC>ggT	KRI1 homolog (S. cerevisiae)						75	74	74					19																	10671902		2203	4300	6503	SO:0001819	synonymous_variant	65095						g.chr19:10671902G>A			CCDS12242.1	CCDS12242.1	19p13.2	2008-02-05			2008-02-05			ENSG00000129347	ENSG00000129347	ENSG00000129347	ENSG00000129347				25769	25769	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12878157	12878157	Standard	Standard	NM_023008	NM_023008		Approved	FLJ12949	uc002moy.1	uc002moy.1	Q8N9T8	Q8N9T8	OTTHUMG00000150343	OTTHUMG00000150343	ENST00000312962.6:c.546C>T	19.37:g.10671902G>A			KRI1_ENST00000361821.5_Silent_p.G178G|KRI1_ENST00000537964.1_5'UTR	p.G182G	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		7	565	-			182	Glu-rich.	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.546C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	2.682	-0.275109	0.05679	.	.	ENSG00000129347	ENST00000543682	.	.	.	4.23	-8.47	0.00939	4.23	-8.47	0.00939	.	.	.	.	.	T	0.44953	0.1318	.	.	.	0.38895	D	0.957201	.	.	.	.	.	.	T	0.53322	-0.8455	4	.	.	.	-2.9809	6.5943	0.22664	0.2534:0.0837:0.5271:0.1357	.	.	.	.	V	120	.	.	A	-	2	0	0	KRI1	10532902	10532902	0.000000	0.05858	0.002000	0.10522	0.397000	0.30659	-2.795000	0.00764	-3.223000	0.00211	-0.369000	0.07265	GCG		0.642	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1		-0.405859	-24	-24	64	64	NM_023008		3	7.00585	7.00585	37	0.075	0	0	0	1	0	3	37	0.075	A	10671902	G	A	10671902	2	1	80	1	0	0	0	0	0	0	0	1	8444	1074	38	1		1	KRI1	19	10671902	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1580379	10671902	48457081	475	1990											
SMARCA4	6597	broad.mit.edu	37	19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:11132513C>T	ENST00000429416.3	+	20	3010	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000358026.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	910	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T910M(6)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCTGCTGACGGGCACACCG	0.592			"F, N, Mis"		NSCLC																																	ENST00000358026.2		Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	7	Substitution - Missense(6)|Unknown(1)	central_nervous_system(6)|lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2728-2730)aCg>aTg	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						88	68	75					19																	11132513		2203	4300	6503	SO:0001583	missense	6597			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132513C>T	D26156	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616	ENSG00000127616	ENSG00000127616				11100	11100	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254	603254		SNF2L4		SNF2L4		8208605	8208605	Standard	Standard	NM_003072	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	uc010dxo.3	P51532	P51532	OTTHUMG00000169272	OTTHUMG00000169272	ENST00000429416.3:c.2729C>T	19.37:g.11132513C>T	ENSP00000395654:p.Thr910Met		SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M	p.T910M	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			19	3013	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	910	Helicase ATP-binding.	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2729C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061387	0.55432	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	4.51	4.51	0.55191	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.996;0.994;1.0;0.998;0.998	D	0.98869	1.0765	10	0.87932	D	0	-34.7546	16.1519	0.81629	0.0:1.0:0.0:0.0	.	910;910;910;910;910;130;910;910	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	M	910;910;974;910;910;910;910;910	ENSP00000395654:T910M;ENSP00000350720:T910M;ENSP00000343896:T910M;ENSP00000445036:T910M;ENSP00000392837:T910M;ENSP00000397783:T910M;ENSP00000414727:T910M	ENSP00000343896:T910M	T	+	2	0	0	SMARCA4	10993513	10993513	1.000000	0.71417	0.968000	0.41197	0.009000	0.06853	7.651000	0.83577	2.348000	0.79779	0.655000	0.94253	ACG		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		47.058297	2	2	40	40	NM_003072		14	48.022083	48.022083	5	0.736842	0	0	0	1	0	14	5	0.736842	T	11132513	C	T	11132513	3	4	80	1	0	0	0	0	1	0	0	0	14770	536	19	1	2799	1	SMARCA4	19	11132513	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	460611	11132513	47996470	476	1991											
MAN2B1	4125	broad.mit.edu	37	19	12758281	12758281	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:12758281G>A	ENST00000456935.2	-	22	2836	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	MAN2B1_ENST00000221363.4_Silent_p.S931S|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R119C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	932					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAACGGGGGCGCTCAGGTTAC	0.592																																						ENST00000597692.1											0										c.(355-357)Cgc>Tgc							113	109	110					19																	12758281		2203	4300	6503	SO:0001819	synonymous_variant	0						g.chr19:12758281G>A			CCDS32919.1, CCDS54224.1		19p13.2	2013-09-20						ENSG00000104774	ENSG00000104774			3.2.1.24			6826		protein-coding gene	gene with protein product					609458			MANB						Standard		NM_000528			Approved	LAMAN	uc002mub.2		O00754		OTTHUMG00000156397		ENST00000456935.2:c.2796C>T	19.37:g.12758281G>A			MAN2B1_ENST00000221363.4_Silent_p.S931S|MAN2B1_ENST00000456935.2_Silent_p.S932S	p.R119C							2	354	-					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.355C>T	CCDS32919.1																																																																																									0.592	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		24.431556	5	5	127	127			13	32.645417	32.645417	65	0.166667	0	0	0	1	0	13	65	0.166667	A	12758281	G	A	12758281	2	1	80	1	0	0	0	0	0	0	0	1	9216	1078	38	1		1	MAN2B1	19	12758281	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1625768	12758281	46370702	477	1992											
DHPS	1725	broad.mit.edu	37	19	12790677	12790677	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:12790677C>T	ENST00000210060.7	-	3	567	c.432G>A	c.(430-432)gcG>gcA	p.A144A	DHPS_ENST00000594424.1_Silent_p.A102A|DHPS_ENST00000599481.1_5'UTR|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000351660.5_Silent_p.A144A	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	144					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						AGTATGTGGGCGCCAGGCACT	0.597																																						ENST00000210060.7											0			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(430-432)gcG>gcA	deoxyhypusine synthase						69	69	69					19																	12790677		2203	4300	6503	SO:0001819	synonymous_variant	1725			peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12790677C>T	U79262	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			2011-11-24			ENSG00000095059	ENSG00000095059	ENSG00000095059	ENSG00000095059				2869	2869	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"migration-inducing gene 13"	"migration-inducing gene 13"	600944	600944						7673224	7673224	Standard	Standard	NM_001930	NM_001930		Approved	MIG13	uc002muh.2	uc002muh.2	P49366	P49366			ENST00000210060.7:c.432G>A	19.37:g.12790677C>T			DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Silent_p.A144A|DHPS_ENST00000594424.1_Silent_p.A102A	p.A144A	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN			3	567	-			144		A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Silent	SNP	ENST00000210060.7	37	c.432G>A	CCDS12276.1																																																																																									0.597	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1		2.974288	-16	-16	44	44	NM_001930		4	8.608022	8.608022	33	0.108108	0	0	0	1	0	4	33	0.108108	T	12790677	C	T	12790677	2	4	80	1	0	0	0	0	0	0	0	1	4485	755	27	1		1	DHPS	19	12790677	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	32396	12790677	46338306	478	1993											
RNASEH2A	10535	broad.mit.edu	37	19	12918311	12918311	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:12918311C>T	ENST00000221486.4	+	4	496	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	134					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						AGGGCGTGAACGTCACCCAGG	0.498																																						ENST00000221486.4											0			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						c.(400-402)aaC>aaT	ribonuclease H2, subunit A						130	113	119					19																	12918311		2203	4300	6503	SO:0001819	synonymous_variant	10535			DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding	g.chr19:12918311C>T	Z97029	Z97029	CCDS12282.1	CCDS12282.1	19p13.13	2014-09-17	2006-08-17		2014-09-17	2006-08-17			ENSG00000104889		ENSG00000104889	3.1.26.-			18518	18518	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606034	606034	"ribonuclease H2, large subunit", "Aicardi-Goutieres syndrome 4"		"ribonuclease H2, large subunit", "Aicardi-Goutieres syndrome 4"			9789007, 16845400	9789007, 16845400	Standard	Standard	NM_006397	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	uc002mvg.1	O75792	O75792			ENST00000221486.4:c.402C>T	19.37:g.12918311C>T				p.N134N	NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN			4	496	+			134		B2RCY1|Q96F11	Silent	SNP	ENST00000221486.4	37	c.402C>T	CCDS12282.1																																																																																									0.498	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1		93.779269	-3	-3	67	67	NM_006397		29	93.988405	93.988405	22	0.568627	0	0	0	1	0	29	22	0.568627	T	12918311	C	T	12918311	2	4	80	1	0	0	0	0	0	0	0	1	13412	535	19	1		1	RNASEH2A	19	12918311	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	127634	12918311	46210672	479	1994											
CASP14	23581	broad.mit.edu	37	19	15166256	15166256	+	Missense_Mutation	SNP	G	G	A	rs185297693	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:15166256G>A	ENST00000427043.3	+	6	844	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.R179Q	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	179					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ATCGCCTACCGACATGATCAG	0.532													G|||	16	0.00319489	0.003	0	5008	,	,		18221	0.0099		0	False		,,,				2504	0.002					ENST00000427043.3											0			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(535-537)cGa>cAa	caspase 14, apoptosis-related cysteine peptidase						110	95	100					19																	15166256		2203	4300	6503	SO:0001583	missense	23581			apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15166256G>A			CCDS12323.1	CCDS12323.1	19p13.1	2008-07-16	2005-08-17		2008-07-16	2005-08-17			ENSG00000105141		ENSG00000105141				1502	1502	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	"apoptosis-related cysteine protease"	605848	605848	"caspase 14, apoptosis-related cysteine protease"		"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	10203698, 9792675	Standard	Standard	NM_012114	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	uc010dzv.2	P31944	P31944			ENST00000427043.3:c.536G>A	19.37:g.15166256G>A	ENSP00000393417:p.Arg179Gln		CASP14_ENST00000221740.1_Missense_Mutation_p.R179Q	p.R179Q	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN			6	844	+			179		O95823|Q3SYC9	Missense_Mutation	SNP	ENST00000427043.3	37	c.536G>A	CCDS12323.1	6	0.0027472527472527475	3	0.006097560975609756	0	0.0	3	0.005244755244755245	0	0.0	g	15.58	2.875696	0.51695	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.25250	1.81;1.81	4.5	4.5	0.54988	4.5	4.5	0.54988	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.224065	0.30940	N	0.008578	T	0.52901	0.1763	H	0.96398	3.815	0.42975	D	0.994442	D	0.89917	1.0	D	0.66196	0.942	T	0.72424	-0.4298	10	0.72032	D	0.01	.	13.0259	0.58814	0.0:0.0:1.0:0.0	.	179	P31944	CASPE_HUMAN	Q	179	ENSP00000393417:R179Q;ENSP00000221740:R179Q	ENSP00000221740:R179Q	R	+	2	0	0	CASP14	15027256	15027256	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	4.534000	0.60622	2.197000	0.70478	0.462000	0.41574	CGA		0.532	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1		10.516956	-16	-16	103	103	NM_012114		9	22.378062	22.378062	71	0.1125	0	0	0	1	0	9	71	0.1125	A	15166256	G	A	15166256	3	1	80	1	0	0	0	0	1	0	0	0	2670	1058	37	1	554	1	CASP14	19	15166256	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2247945	15166256	43962727	480	1995											
BRD4	23476	broad.mit.edu	37	19	15364970	15364970	+	Silent	SNP	G	G	A	rs200329089		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:15364970G>A	ENST00000263377.2	-	11	2372	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000360016.5_Silent_p.S717S|BRD4_ENST00000602230.1_5'Flank	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	717	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACCTGTTTCGGAGTCTTCGC	0.542			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2149-2151)tcC>tcT	bromodomain containing 4						76	66	70					19																	15364970		2203	4300	6503	SO:0001819	synonymous_variant	23476			interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15364970G>A	Y12059	Y12059	CCDS12328.1, CCDS46004.1	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867	ENSG00000141867	ENSG00000141867				13575	13575	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"chromosome-associated protein"	"chromosome-associated protein"	608749	608749	"bromodomain-containing 4"		"bromodomain-containing 4"			10938129	10938129	Standard	Standard	NM_058243	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	uc002nar.3	O60885	O60885	OTTHUMG00000183252	OTTHUMG00000183252	ENST00000263377.2:c.2151C>T	19.37:g.15364970G>A			BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000360016.5_Silent_p.S717S	p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		11	2372	-			717	Ser-rich.	O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.2151C>T	CCDS12328.1																																																																																									0.542	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3		7.216647	-10	-10	16	16	NM_058243		3	8.471963	8.471963	12	0.2	0	0	0	1	0	3	12	0.2	A	15364970	G	A	15364970	2	1	80	1	0	0	0	0	0	0	0	1	1504	1103	39	1		1	BRD4	19	15364970	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	198714	15364970	43764013	481	1996											
OR10H1	26539	broad.mit.edu	37	19	15918449	15918449	+	Silent	SNP	G	G	A	rs187451101	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:15918449G>A	ENST00000334920.2	-	1	487	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N133N(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCATGAGCACGTTGTAGCGCA	0.637													.|||	4	0.000798722	0	0	5008	,	,		19565	0.004		0	False		,,,				2504	0					ENST00000334920.2											1	Substitution - coding silent(1)	large_intestine(1)	cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(397-399)aaC>aaT	olfactory receptor, family 10, subfamily H, member 1	G		0,4406		0,0,2203	73	59	64		399	-6.1	0	19		64	2,8598		0,2,4298	no	coding-synonymous	OR10H1	NM_013940.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		133/319	15918449	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26539			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918449G>A	AC004510	AC004510	CCDS12335.1	CCDS12335.1	19p13.1	2012-08-09			2012-08-09				ENSG00000186723		ENSG00000186723		"GPCR / Class A : Olfactory receptors"	"GPCR / Class A : Olfactory receptors"	8172	8172	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_013940	NM_013940		Approved		uc002nbq.2	uc002nbq.2	Q9Y4A9	Q9Y4A9			ENST00000334920.2:c.399C>T	19.37:g.15918449G>A				p.N133N	NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN			1	487	-			133		Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.399C>T	CCDS12335.1																																																																																									0.637	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1		10.558399	-19	-19	53	53			5	13.28085	13.28085	23	0.178571	0	0	0	1	0	5	23	0.178571	A	15918449	G	A	15918449	2	1	80	1	0	0	0	0	0	0	0	1	10905	1136	40	1		1	OR10H1	19	15918449	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	553479	15918449	43210534	482	1997											
NWD1	284434	broad.mit.edu	37	19	16860798	16860798	+	Missense_Mutation	SNP	C	C	T	rs373258516		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:16860798C>T	ENST00000552788.1	+	4	1345	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	NWD1_ENST00000524140.2_Missense_Mutation_p.R449W|NWD1_ENST00000339803.6_Missense_Mutation_p.R314W|NWD1_ENST00000379808.3_Missense_Mutation_p.R449W|NWD1_ENST00000549814.1_Missense_Mutation_p.R449W|NWD1_ENST00000523826.1_Missense_Mutation_p.R243W			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	449	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGCCATGCTCGGAGGGTTCC	0.597																																						ENST00000524140.2											0			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1345-1347)Cgg>Tgg	NACHT and WD repeat domain containing 1	C	TRP/ARG	0,4406		0,0,2203	75	73	73		1345	-1	0	19		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	NWD1	NM_001007525.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	449/1433	16860798	1,13005	2203	4300	6503	SO:0001583	missense	284434					ATP binding	g.chr19:16860798C>T	BX648940	BX648940	CCDS32945.1, CCDS32945.2	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09			2013-01-09				ENSG00000188039		ENSG00000188039		"WD repeat domain containing"	"WD repeat domain containing"	27619	27619	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001007525	NM_001007525		Approved		uc002neu.4	uc002neu.4	Q149M9	Q149M9			ENST00000552788.1:c.1345C>T	19.37:g.16860798C>T	ENSP00000447224:p.Arg449Trp		NWD1_ENST00000552788.1_Missense_Mutation_p.R449W|NWD1_ENST00000339803.6_Missense_Mutation_p.R314W|NWD1_ENST00000379808.3_Missense_Mutation_p.R449W|NWD1_ENST00000549814.1_Missense_Mutation_p.R449W|NWD1_ENST00000523826.1_Missense_Mutation_p.R243W	p.R449W	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1763	+			449	NACHT.	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1345C>T		.	.	.	.	.	.	.	.	.	.	c	11.50	1.655792	0.29425	0.0	1.16E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.48	-1.01	0.10169	4.48	-1.01	0.10169	.	0.851889	0.10202	N	0.703233	D	0.85957	0.5818	M	0.78049	2.395	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.57846	0.761;0.736;0.828	T	0.77419	-0.2595	10	0.39692	T	0.17	-7.41	12.7226	0.57149	0.5394:0.4606:0.0:0.0	.	449;449;314	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	W	314;449;449;449;243;449;314	ENSP00000428579:R449W;ENSP00000447548:R449W;ENSP00000369136:R449W;ENSP00000428955:R243W;ENSP00000447224:R449W;ENSP00000340159:R314W	ENSP00000340159:R314W	R	+	1	2	2	NWD1	16721798	16721798	0.084000	0.21492	0.000000	0.03702	0.005000	0.04900	1.890000	0.39728	0.067000	0.16545	-0.183000	0.12914	CGG		0.597	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1		-9.059299	-17	-17	111	111	NM_001007525		4	7.840602	7.840602	75	0.050633	0	0	0	1	0	4	75	0.050633	T	16860798	C	T	16860798	3	4	80	1	0	0	0	0	1	0	0	0	10781	875	31	1	946	1	NWD1	19	16860798	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	942349	16860798	42268185	483	1998											
ABHD8	79575	broad.mit.edu	37	19	17412110	17412110	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:17412110C>T	ENST00000247706.3	-	2	555	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	106							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCATTCTGCCCGTGTAGGAGG	0.721																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3											0			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(316-318)Ggg>Agg	abhydrolase domain containing 8						21	23	22					19																	17412110		1985	3920	5905	SO:0001583	missense	79575					hydrolase activity	g.chr19:17412110C>T	AK021805	AK021805	CCDS12355.1	CCDS12355.1	19p13.12	2010-12-09			2010-12-09			ENSG00000127220	ENSG00000127220	ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	"Abhydrolase domain containing"	23759	23759	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_024527	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	uc002ngb.4	Q96I13	Q96I13			ENST00000247706.3:c.316G>A	19.37:g.17412110C>T	ENSP00000247706:p.Gly106Arg		MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.G106R	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	555	-			106		Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.316G>A	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829729	0.32329	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.30981	1.51	5.24	4.2	0.49525	5.24	4.2	0.49525	.	0.175578	0.50627	D	0.000119	T	0.16428	0.0395	N	0.14661	0.345	0.36626	D	0.876051	P	0.37708	0.606	B	0.32289	0.143	T	0.16364	-1.0405	10	0.45353	T	0.12	-14.7149	10.6748	0.45778	0.387:0.613:0.0:0.0	.	106	Q96I13	ABHD8_HUMAN	R	106;52	ENSP00000247706:G106R	ENSP00000247706:G106R	G	-	1	0	0	ABHD8	17273110	17273110	0.530000	0.26330	0.281000	0.24762	0.875000	0.50365	1.025000	0.30090	1.151000	0.42436	0.491000	0.48974	GGG		0.721	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1		52.871376	10	10	81	81	NM_024527		17	52.962895	52.962895	21	0.447368	0	0	0	1	0	17	21	0.447368	T	17412110	C	T	17412110	3	4	80	1	0	0	0	0	1	0	0	0	87	652	23	1	1019	1	ABHD8	19	17412110	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	551312	17412110	41716873	484	1999											
KLHL26	55295	broad.mit.edu	37	19	18778890	18778890	+	Missense_Mutation	SNP	G	G	A	rs148044384		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:18778890G>A	ENST00000300976.4	+	3	773	c.683G>A	c.(682-684)cGc>cAc	p.R228H	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	228	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GACCTGTTCCGCGCGGCCGTC	0.687																																						ENST00000300976.4											0			breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(682-684)cGc>cAc	kelch-like family member 26	G	HIS/ARG	1,4405		0,1,2202	31	31	31		683	0	0.2	19	dbSNP_134	31	0,8594		0,0,4297	no	missense	KLHL26	NM_018316.1	29	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	228/616	18778890	1,12999	2203	4297	6500	SO:0001583	missense	55295						g.chr19:18778890G>A			CCDS12384.1	CCDS12384.1	19p13.11	2013-10-15	2013-02-22		2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487	ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	"Kelch-like", "BTB/POZ domain containing"	25623	25623	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"kelch-like 26 (Drosophila)"		"kelch-like 26 (Drosophila)"					Standard	Standard	XM_006722785	XM_006722785		Approved		uc002njz.1	uc002njz.1	Q53HC5	Q53HC5	OTTHUMG00000183114	OTTHUMG00000183114	ENST00000300976.4:c.683G>A	19.37:g.18778890G>A	ENSP00000300976:p.Arg228His		KLHL26_ENST00000599006.1_Intron	p.R228H	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	773	+			228	BACK.	Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.683G>A	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	0.987	-0.695228	0.03303	2.27E-4	0.0	ENSG00000167487	ENST00000300976	T	0.68903	-0.36	5.04	0.0318	0.14172	5.04	0.0318	0.14172	BTB/Kelch-associated (2);	0.315983	0.35207	N	0.003378	T	0.31734	0.0806	N	0.02120	-0.675	0.32269	N	0.569086	B	0.06786	0.001	B	0.06405	0.002	T	0.26326	-1.0106	9	.	.	.	.	8.1212	0.30971	0.448:0.0:0.552:0.0	.	228	Q53HC5	KLH26_HUMAN	H	228	ENSP00000300976:R228H	.	R	+	2	0	0	KLHL26	18639890	18639890	0.018000	0.18449	0.188000	0.23233	0.110000	0.19582	0.301000	0.19174	0.077000	0.16863	0.591000	0.81541	CGC		0.687	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1		49.771245	-11	-11	45	45	NM_018316		17	49.77751	49.77751	18	0.485714	0	0	0	1	0	17	18	0.485714	A	18778890	G	A	18778890	3	1	80	1	0	0	0	0	1	0	0	0	8381	1087	38	1	693	1	KLHL26	19	18778890	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1366780	18778890	40350093	485	2000											
SFRS14	10147	broad.mit.edu	37	19	19115139	19115139	+	Missense_Mutation	SNP	C	C	T	rs144507791		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:19115139C>T	ENST00000601879.1	-	7	3064	c.2767G>A	c.(2767-2769)Ggc>Agc	p.G923S	SUGP2_ENST00000456085.2_Missense_Mutation_p.G692S|SUGP2_ENST00000600377.1_Missense_Mutation_p.G937S|SUGP2_ENST00000452918.2_Missense_Mutation_p.G923S|SUGP2_ENST00000337018.6_Missense_Mutation_p.G923S			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	923					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCGGGAAGGCCGTCGGCAGGG	0.677																																						ENST00000601879.1											0			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2767-2769)Ggc>Agc	SURP and G patch domain containing 2	C	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	33	33	33		2767,2767	2.9	0.7	19	dbSNP_134	33	0,8600		0,0,4300	no	missense,missense	SUGP2	NM_001017392.3,NM_014884.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	923/1083,923/1083	19115139	1,13005	2203	4300	6503	SO:0001583	missense	10147			mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19115139C>T	AB002363	AB002363	CCDS12392.1	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607	ENSG00000064607	ENSG00000064607		"G patch domain containing"	"G patch domain containing"	18641	18641	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607993	607993	"splicing factor, arginine/serine-rich 14"	SFRS14	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	12594045	Standard	Standard	NM_014884	NM_014884		Approved	KIAA0365	uc002nkx.2	uc002nkx.2	Q8IX01	Q8IX01			ENST00000601879.1:c.2767G>A	19.37:g.19115139C>T	ENSP00000472286:p.Gly923Ser		SUGP2_ENST00000600377.1_Missense_Mutation_p.G937S|SUGP2_ENST00000337018.6_Missense_Mutation_p.G923S|SUGP2_ENST00000456085.2_Missense_Mutation_p.G692S|SUGP2_ENST00000452918.2_Missense_Mutation_p.G923S	p.G923S			Q8IX01	SUGP2_HUMAN			7	3064	-			923		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.2767G>A	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576429	0.28092	2.27E-4	0.0	ENSG00000064607	ENST00000337018;ENST00000452918;ENST00000456085	T;T;T	0.11063	3.0;3.0;2.81	5.12	2.9	0.33743	5.12	2.9	0.33743	.	0.643972	0.14370	N	0.323824	T	0.04861	0.0131	N	0.17082	0.46	0.09310	N	1	B;B;B	0.28470	0.213;0.213;0.052	B;B;B	0.16289	0.015;0.015;0.005	T	0.42015	-0.9476	10	0.07644	T	0.81	-10.7151	6.6204	0.22800	0.1775:0.7294:0.0:0.093	.	692;923;923	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	S	923;923;692	ENSP00000337926:G923S;ENSP00000389380:G923S;ENSP00000409603:G692S	ENSP00000337926:G923S	G	-	1	0	0	SUGP2	18976139	18976139	0.900000	0.30661	0.689000	0.30133	0.018000	0.09664	0.484000	0.22308	0.483000	0.27608	0.462000	0.41574	GGC		0.677	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1		10.295619	-6	-6	28	28	NM_001017392		4	10.723956	10.723956	9	0.307692	0	0	0	1	0	4	9	0.307692	T	19115139	C	T	19115139	3	4	80	1	0	0	0	0	1	0	0	0	14170	652	23	1	497	1	SFRS14	19	19115139	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	336249	19115139	40013844	486	2001											
LRFN3	79414	broad.mit.edu	37	19	36430628	36430628	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:36430628G>A	ENST00000588831.1	+	3	1355	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	LRFN3_ENST00000246529.3_Missense_Mutation_p.G101S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	101					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGTGGCTGCCGGCGCCTTCGC	0.697																																						ENST00000588831.1											0			cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(301-303)Ggc>Agc	leucine rich repeat and fibronectin type III domain containing 3						13	14	14					19																	36430628		2110	4112	6222	SO:0001583	missense	79414			cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430628G>A	BC003578	BC003578	CCDS12483.1	CCDS12483.1	19q13.13	2013-02-11			2013-02-11				ENSG00000126243		ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	28370	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809	612809						12975309, 16495444, 16828986	12975309, 16495444, 16828986	Standard	Standard	NM_024509	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	uc002oco.3	Q9BTN0	Q9BTN0			ENST00000588831.1:c.301G>A	19.37:g.36430628G>A	ENSP00000466989:p.Gly101Ser		LRFN3_ENST00000246529.3_Missense_Mutation_p.G101S	p.G101S			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1355	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		101		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.301G>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	3.104	-0.184233	0.06340	.	.	ENSG00000126243	ENST00000246529	T	0.58940	0.3	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.000000	0.35495	N	0.003172	T	0.45135	0.1327	L	0.49571	1.57	0.18873	N	0.999982	B	0.34264	0.446	B	0.24848	0.056	T	0.34650	-0.9820	10	0.23302	T	0.38	.	11.0601	0.47942	0.0:0.1885:0.8115:0.0	.	101	Q9BTN0	LRFN3_HUMAN	S	101	ENSP00000246529:G101S	ENSP00000246529:G101S	G	+	1	0	0	LRFN3	41122468	41122468	0.004000	0.15560	0.668000	0.29813	0.079000	0.17450	0.515000	0.22801	2.231000	0.72958	0.557000	0.71058	GGC		0.697	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2		52.207092	21	21	52	52	NM_024509		16	52.797645	52.797645	8	0.666667	0	0	0	1	0	16	8	0.666667	A	36430628	G	A	36430628	3	1	80	1	0	0	0	0	1	0	0	0	8939	1116	39	1	303	1	LRFN3	19	36430628	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	17315489	36430628	22698355	487	2002											
SIPA1L3	23094	broad.mit.edu	37	19	38573659	38573659	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:38573659C>T	ENST00000222345.6	+	3	1963	c.1454C>T	c.(1453-1455)aCg>aTg	p.T485M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	485					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)			CAGCAGCGGACGCAGAGTCGG	0.662																																						ENST00000222345.6											0			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						c.(1453-1455)aCg>aTg	signal-induced proliferation-associated 1 like 3						29	34	32					19																	38573659		2203	4300	6503	SO:0001583	missense	23094			regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38573659C>T	AB011117	AB011117	CCDS33007.1	CCDS33007.1	19q13.13	2008-02-05			2008-02-05			ENSG00000105738	ENSG00000105738	ENSG00000105738	ENSG00000105738				23801	23801	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_005258671	XM_005258671		Approved	KIAA0545	uc002ohk.3	uc002ohk.3	O60292	O60292	OTTHUMG00000073727	OTTHUMG00000073727	ENST00000222345.6:c.1454C>T	19.37:g.38573659C>T	ENSP00000222345:p.Thr485Met			p.T485M	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1963	+			485		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.1454C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161874	0.38217	.	.	ENSG00000105738	ENST00000222345	T	0.75704	-0.96	5.15	4.08	0.47627	5.15	4.08	0.47627	.	0.178179	0.49916	D	0.000138	T	0.47135	0.1429	N	0.08118	0	0.09310	N	0.999999	P	0.35348	0.496	B	0.26202	0.067	T	0.38607	-0.9653	10	0.34782	T	0.22	-18.1799	7.689	0.28557	0.1427:0.5259:0.3313:0.0	.	485	O60292	SI1L3_HUMAN	M	485	ENSP00000222345:T485M	ENSP00000222345:T485M	T	+	2	0	0	SIPA1L3	43265499	43265499	0.006000	0.16342	0.990000	0.47175	0.815000	0.46073	1.828000	0.39111	2.411000	0.81874	0.563000	0.77884	ACG		0.662	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		13.230275	-11	-11	29	29	XM_032278		6	16.368576	16.368576	27	0.181818	0	0	0	1	0	6	27	0.181818	T	38573659	C	T	38573659	3	4	80	1	0	0	0	0	1	0	0	0	14331	536	19	1	1456	1	SIPA1L3	19	38573659	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2143031	38573659	20555324	488	2003											
LRFN1	57622	broad.mit.edu	37	19	39805081	39805081	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:39805081G>A	ENST00000248668.4	-	1	895	c.896C>T	c.(895-897)cCg>cTg	p.P299L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	299	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTGATCAGCGGGGGCTCACA	0.706																																						ENST00000248668.4											0			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(895-897)cCg>cTg	leucine rich repeat and fibronectin type III domain containing 1						15	20	18					19																	39805081		2116	4238	6354	SO:0001583	missense	57622				cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805081G>A	BC014678	BC014678	CCDS46071.1	CCDS46071.1	19q13.2	2013-02-11			2013-02-11				ENSG00000128011		ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	29290	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612807	612807						10819331, 16828986	10819331, 16828986	Standard	Standard	NM_020862	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	uc002okw.2	Q9P244	Q9P244			ENST00000248668.4:c.896C>T	19.37:g.39805081G>A	ENSP00000248668:p.Pro299Leu			p.P299L	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	895	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		299	Ig-like.	Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.896C>T	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393017	0.83011	.	.	ENSG00000128011	ENST00000248668	D	0.93189	-3.18	4.53	4.53	0.55603	4.53	4.53	0.55603	Immunoglobulin-like (1);	0.000000	0.44483	D	0.000453	D	0.97682	0.9240	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97812	1.0251	10	0.38643	T	0.18	.	14.7902	0.69837	0.0:0.0:1.0:0.0	.	299	Q9P244	LRFN1_HUMAN	L	299	ENSP00000248668:P299L	ENSP00000248668:P299L	P	-	2	0	0	LRFN1	44496921	44496921	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.603000	0.98315	2.352000	0.79861	0.655000	0.94253	CCG		0.706	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1		23.327833	14	14	25	25	NM_020862		7	23.507782	23.507782	4	0.636364	0	0	0	1	0	7	4	0.636364	A	39805081	G	A	39805081	3	1	80	1	0	0	0	0	1	0	0	0	8937	1116	39	1	1427	1	LRFN1	19	39805081	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1231422	39805081	19323902	489	2004											
ZNF546	339327	broad.mit.edu	37	19	40521032	40521032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:40521032C>T	ENST00000347077.4	+	7	2071	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Nonsense_Mutation_p.R593*	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	619					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAAGCCTTTCGATTTCAAAC	0.358																																						ENST00000347077.4											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1855-1857)Cga>Tga	zinc finger protein 546						45	48	47					19																	40521032		2203	4300	6503	SO:0001587	stop_gained	339327			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521032C>T	BC045649	BC045649	CCDS12548.1	CCDS12548.1	19q13.2	2013-01-08			2013-01-08				ENSG00000187187		ENSG00000187187		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	28671	28671	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						ZNF49		ZNF49		12477932	12477932	Standard	Standard	XM_005258853	XM_005258853		Approved	MGC43537	uc002oms.2	uc002oms.2	Q86UE3	Q86UE3			ENST00000347077.4:c.1855C>T	19.37:g.40521032C>T	ENSP00000339823:p.Arg619*		ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Nonsense_Mutation_p.R593*	p.R619*	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	2071	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		619		A8K913	Nonsense_Mutation	SNP	ENST00000347077.4	37	c.1855C>T	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	37	6.084811	0.97267	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	.	.	.	2.91	-0.341	0.12639	2.91	-0.341	0.12639	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	6.3833	0.21546	0.326:0.5006:0.1734:0.0	.	.	.	.	X	619;228	.	ENSP00000339823:R619X	R	+	1	2	2	ZNF546	45212872	45212872	0.000000	0.05858	0.100000	0.21137	0.971000	0.66376	-2.524000	0.00948	0.004000	0.14682	0.591000	0.81541	CGA		0.358	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2		23.793081	-9	-9	40	40	NM_178544		8	24.263182	24.263182	15	0.347826	0	0	0	1	0	8	15	0.347826	T	40521032	C	T	40521032	4	4	80	1	0	0	0	0	0	1	0	0	17975	876	31	1	1873	1	ZNF546	19	40521032	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	715951	40521032	18607951	490	2005											
SPTBN4	57731	broad.mit.edu	37	19	41008365	41008365	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:41008365G>A	ENST00000352632.3	+	10	1240	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R385H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R385H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R385H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R385H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	385					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTGCAACCGTCGCCTCTTT	0.602																																						ENST00000352632.3											0			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1153-1155)cGt>cAt	spectrin, beta, non-erythrocytic 4						73	76	75					19																	41008365		2203	4300	6503	SO:0001583	missense	57731			actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41008365G>A	AF082075	AF082075	CCDS12559.1, CCDS42569.1	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10			2013-01-10				ENSG00000160460		ENSG00000160460		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	14896	14896	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606214	606214						11086001	11086001	Standard	Standard	NM_020971	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	uc002onz.3	Q9H254	Q9H254			ENST00000352632.3:c.1154G>A	19.37:g.41008365G>A	ENSP00000263373:p.Arg385His		SPTBN4_ENST00000344104.3_Missense_Mutation_p.R385H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R385H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R385H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R385H	p.R385H			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		10	1240	+			385		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1154G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834173	0.71373	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.50277	0.75;0.75;0.75	3.54	3.54	0.40534	3.54	3.54	0.40534	.	0.106112	0.37809	U	0.001926	T	0.63260	0.2496	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.962;0.979	T	0.66881	-0.5811	10	0.56958	D	0.05	.	15.0565	0.71917	0.0:0.0:1.0:0.0	.	385;385	Q9H254;Q71S06	SPTN4_HUMAN;.	H	385	ENSP00000263373:R385H;ENSP00000340345:R385H;ENSP00000340741:R385H	ENSP00000340345:R385H	R	+	2	0	0	SPTBN4	45700205	45700205	0.564000	0.26602	0.996000	0.52242	0.859000	0.49053	1.119000	0.31258	2.283000	0.76528	0.563000	0.77884	CGT		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		13.163805	-17	-17	94	94			8	20.279461	20.279461	49	0.140351	0	0	0	1	0	8	49	0.140351	A	41008365	G	A	41008365	3	1	80	1	0	0	0	0	1	0	0	0	15120	1145	40	1	1188	1	SPTBN4	19	41008365	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	487333	41008365	18120618	491	2006											
LTBP4	8425	broad.mit.edu	37	19	41129854	41129854	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:41129854C>T	ENST00000308370.7	+	30	3897	c.3897C>T	c.(3895-3897)tgC>tgT	p.C1299C	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.C1262C|LTBP4_ENST00000545697.1_Silent_p.C667C|LTBP4_ENST00000396819.3_Silent_p.C1232C	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1300	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGACGAGTGCGCCGATGAGG	0.582																																						ENST00000308370.7											0			central_nervous_system(1)	1						c.(3895-3897)tgC>tgT	latent transforming growth factor beta binding protein 4						34	41	39					19																	41129854		2036	4183	6219	SO:0001819	synonymous_variant	8425			growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41129854C>T	Y13622	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20			2011-10-20				ENSG00000090006		ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	"Latent transforming growth factor, beta binding proteins"	6717	6717	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604710	604710						9660815, 9271198	9660815, 9271198	Standard	Standard	NM_003573	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	uc002ooh.1	Q8N2S1	Q8N2S1			ENST00000308370.7:c.3897C>T	19.37:g.41129854C>T			LTBP4_ENST00000396819.3_Silent_p.C1232C|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.C667C|LTBP4_ENST00000204005.9_Silent_p.C1262C|LTBP4_ENST00000243562.9_3'UTR	p.C1299C	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		30	3897	+			1300	EGF-like 14; calcium-binding (Potential).	O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.3897C>T																																																																																										0.582	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			15.139766	1	1	47	47	NM_003573		6	16.164437	16.164437	16	0.272727	0	0	0	1	0	6	16	0.272727	T	41129854	C	T	41129854	2	4	80	1	0	0	0	0	0	0	0	1	9076	776	27	1		1	LTBP4	19	41129854	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	121489	41129854	17999129	492	2007											
CYP2A13	1553	broad.mit.edu	37	19	41594843	41594843	+	Missense_Mutation	SNP	C	C	T	rs72547586	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:41594843C>T	ENST00000330436.3	+	2	190	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	64					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GATCAGTGAGCGCTATGGCCC	0.612																																						ENST00000330436.3											0			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(190-192)Cgc>Tgc	cytochrome P450, family 2, subfamily A, polypeptide 13						84	77	80					19																	41594843		2203	4300	6503	SO:0001583	missense	1553			xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594843C>T	U22028	U22028	CCDS12571.1	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838	ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	"Cytochrome P450s"	2608	2608	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608055	608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"		"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	7668294, 15128046	Standard	Standard	NM_000766	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	uc002opt.4	Q16696	Q16696	OTTHUMG00000182762	OTTHUMG00000182762	ENST00000330436.3:c.190C>T	19.37:g.41594843C>T	ENSP00000332679:p.Arg64Cys			p.R64C	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			2	190	+			64		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.190C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	12.17	1.857060	0.32791	.	.	ENSG00000197838	ENST00000330436	T	0.69435	-0.4	3.49	2.34	0.29019	3.49	2.34	0.29019	.	0.527792	0.16699	U	0.203231	T	0.61961	0.2389	M	0.69185	2.1	0.09310	N	1	B	0.19073	0.033	B	0.16722	0.016	T	0.59500	-0.7443	10	0.59425	D	0.04	.	9.8633	0.41127	0.3098:0.6902:0.0:0.0	.	64	Q16696	CP2AD_HUMAN	C	64	ENSP00000332679:R64C	ENSP00000332679:R64C	R	+	1	0	0	CYP2A13	46286683	46286683	0.000000	0.05858	0.575000	0.28536	0.381000	0.30169	-0.327000	0.07955	1.965000	0.57142	0.444000	0.29173	CGC		0.612	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1		7.049305	-23	-23	60	60	NM_000766		6	14.593958	14.593958	46	0.115385	0	0	0	1	0	6	46	0.115385	T	41594843	C	T	41594843	3	4	80	1	0	0	0	0	1	0	0	0	4161	768	27	1	196	1	CYP2A13	19	41594843	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	464989	41594843	17534140	493	2008											
GPR4	2828	broad.mit.edu	37	19	46095082	46095082	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:46095082C>T	ENST00000323040.4	-	2	987	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	15					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGGTGGTCCACGCGCGAGTCC	0.677																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4											0			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(43-45)Gtg>Atg	G protein-coupled receptor 4						49	39	43					19																	46095082		2203	4300	6503	SO:0001583	missense	2828				integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46095082C>T	BC067536	BC067536	CCDS12669.1	CCDS12669.1	19q13.3	2012-08-21			2012-08-21				ENSG00000177464		ENSG00000177464		"GPCR / Class A : Orphans"	"GPCR / Class A : Orphans"	4497	4497	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600551	600551						8595909	8595909	Standard	Standard	NM_005282	NM_005282		Approved		uc002pcm.3	uc002pcm.3	P46093	P46093			ENST00000323040.4:c.43G>A	19.37:g.46095082C>T	ENSP00000319744:p.Val15Met		OPA3_ENST00000544371.1_Intron	p.V15M	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	987	-			15		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.43G>A	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397482	0.25205	.	.	ENSG00000177464	ENST00000323040	T	0.38077	1.16	5.11	2.98	0.34508	5.11	2.98	0.34508	.	0.096661	0.39834	N	0.001244	T	0.20536	0.0494	N	0.08118	0	0.26810	N	0.969017	D	0.65815	0.995	P	0.48627	0.584	T	0.03555	-1.1025	10	0.40728	T	0.16	.	4.8501	0.13533	0.0:0.6326:0.1776:0.1899	.	15	P46093	GPR4_HUMAN	M	15	ENSP00000319744:V15M	ENSP00000319744:V15M	V	-	1	0	0	GPR4	50786922	50786922	0.001000	0.12720	0.812000	0.32479	0.076000	0.17211	-0.111000	0.10807	1.141000	0.42275	0.313000	0.20887	GTG		0.677	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1		11.362866	16	16	63	63	NM_005282		5	13.252805	13.252805	19	0.208333	0	0	0	1	0	5	19	0.208333	T	46095082	C	T	46095082	3	4	80	1	0	0	0	0	1	0	0	0	6694	536	19	1	1049	1	GPR4	19	46095082	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4500239	46095082	13033901	494	2009											
FBXO46	23403	broad.mit.edu	37	19	46216077	46216077	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:46216077C>T	ENST00000317683.3	-	2	810	c.677G>A	c.(676-678)cGt>cAt	p.R226H		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	226										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTCGGCTACACGGCTGCAGTC	0.701																																						ENST00000317683.3											0			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(676-678)cGt>cAt	F-box protein 46						20	24	23					19																	46216077		2015	4146	6161	SO:0001583	missense	23403					protein binding	g.chr19:46216077C>T	BC021978	BC021978	CCDS46116.1	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		ENSG00000177051		"F-boxes /  "other""	"F-boxes /  "other""	25069	25069	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609117	609117	"F-box only protein 34-like"	FBXO34L	"F-box only protein 34-like"	FBXO34L		9585442	9585442	Standard	Standard	NM_001080469	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	uc002pcz.3	Q6PJ61	Q6PJ61			ENST00000317683.3:c.677G>A	19.37:g.46216077C>T	ENSP00000410007:p.Arg226His			p.R226H	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	810	-		Ovarian(192;0.179)|all_neural(266;0.224)	226			Missense_Mutation	SNP	ENST00000317683.3	37	c.677G>A	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292612	0.40594	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.89	3.86	0.44501	4.89	3.86	0.44501	.	.	.	.	.	T	0.44265	0.1285	L	0.46157	1.445	0.34418	D	0.697129	B	0.29232	0.238	B	0.22601	0.04	T	0.57323	-0.7831	8	0.72032	D	0.01	-5.7976	10.954	0.47347	0.0:0.9082:0.0:0.0918	.	226	Q6PJ61	FBX46_HUMAN	H	226	.	ENSP00000410007:R226H	R	-	2	0	0	FBXO46	50907917	50907917	0.978000	0.34361	0.810000	0.32431	0.142000	0.21351	3.564000	0.53791	1.077000	0.40990	-0.251000	0.11542	CGT		0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1		7.851637	-25	-25	23	23	XM_371179		5	12.153725	12.153725	30	0.142857	0	0	0	1	0	5	30	0.142857	T	46216077	C	T	46216077	3	4	80	1	0	0	0	0	1	0	0	0	5755	536	19	1	1138	1	FBXO46	19	46216077	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	120995	46216077	12912906	495	2010											
CCDC8	83987	broad.mit.edu	37	19	46915352	46915352	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:46915352G>A	ENST00000307522.3	-	1	1489	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	239					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCCTCTGGCGCCGATGATAC	0.706																																						ENST00000307522.3											0			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(715-717)gCg>gTg	coiled-coil domain containing 8						25	30	28					19																	46915352		2195	4292	6487	SO:0001583	missense	83987				plasma membrane		g.chr19:46915352G>A	BC025243	BC025243	CCDS12685.1	CCDS12685.1	19q13.33	2012-04-17			2012-04-17			ENSG00000169515	ENSG00000169515	ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	25367	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	"protein phosphatase 1, regulatory subunit 20"	614145	614145						11230166	11230166	Standard	Standard	NM_032040	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	uc002pep.3	Q9H0W5	Q9H0W5	OTTHUMG00000162348	OTTHUMG00000162348	ENST00000307522.3:c.716C>T	19.37:g.46915352G>A	ENSP00000303158:p.Ala239Val			p.A239V	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1489	-			239		Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.716C>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443821	0.12164	.	.	ENSG00000169515	ENST00000307522	T	0.11712	2.75	2.68	-4.27	0.03744	2.68	-4.27	0.03744	.	4.673350	0.00447	N	0.000097	T	0.02888	0.0086	N	0.00926	-1.1	0.09310	N	1	B	0.18610	0.029	B	0.06405	0.002	T	0.31696	-0.9934	10	0.21014	T	0.42	4.8503	2.6164	0.04905	0.3635:0.0:0.2813:0.3552	.	239	Q9H0W5	CCDC8_HUMAN	V	239	ENSP00000303158:A239V	ENSP00000303158:A239V	A	-	2	0	0	CCDC8	51607192	51607192	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-0.355000	0.07671	-0.839000	0.04212	-0.806000	0.03193	GCG		0.706	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1		49.226789	7	7	48	48	NM_032040		18	49.794904	49.794904	29	0.382979	0	0	0	1	0	18	29	0.382979	A	46915352	G	A	46915352	3	1	80	1	0	0	0	0	1	0	0	0	2853	1087	38	1	904	1	CCDC8	19	46915352	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	699275	46915352	12213631	496	2011											
GLTSCR1	29998	broad.mit.edu	37	19	48204593	48204593	+	Missense_Mutation	SNP	G	G	A	rs536150980		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:48204593G>A	ENST00000396720.3	+	15	3798	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1202										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		AGACGAGTACGTGTCTTCCTC	0.662																																						ENST00000396720.3											0			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(3604-3606)Gtg>Atg	glioma tumor suppressor candidate region gene 1						17	21	20					19																	48204593		2019	4142	6161	SO:0001583	missense	29998					protein binding	g.chr19:48204593G>A	AF182077	AF182077	CCDS46134.1	CCDS46134.1	19q13.3	2012-11-29			2012-11-29			ENSG00000063169	ENSG00000063169	ENSG00000063169	ENSG00000063169				4332	4332	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605690	605690						10708517	10708517	Standard	Standard	NM_015711	NM_015711		Approved		uc002phh.4	uc002phh.4	Q9NZM4	Q9NZM4			ENST00000396720.3:c.3604G>A	19.37:g.48204593G>A	ENSP00000379946:p.Val1202Met		CTD-2571L23.8_ENST00000599924.1_lincRNA	p.V1202M	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	15	3798	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1202		A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.3604G>A	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043815	0.19748	.	.	ENSG00000063169	ENST00000396720	T	0.35789	1.29	3.58	3.58	0.41010	3.58	3.58	0.41010	.	.	.	.	.	T	0.49695	0.1572	L	0.36672	1.1	0.32700	N	0.513025	D	0.89917	1.0	D	0.87578	0.998	T	0.61347	-0.7081	9	0.72032	D	0.01	.	14.1173	0.65161	0.0:0.0:1.0:0.0	.	1202	Q9NZM4	GSCR1_HUMAN	M	1202	ENSP00000379946:V1202M	ENSP00000379946:V1202M	V	+	1	0	0	GLTSCR1	52896405	52896405	1.000000	0.71417	0.988000	0.46212	0.059000	0.15707	3.698000	0.54771	1.834000	0.53371	0.462000	0.41574	GTG		0.662	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1		11.198627	3	3	24	24	NM_015711		4	11.198627	11.198627	4	0.5	0	0	0	1	0	4	4	0.5	A	48204593	G	A	48204593	3	1	80	1	0	0	0	0	1	0	0	0	6474	1145	40	1	3654	1	GLTSCR1	19	48204593	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1289241	48204593	10924390	497	2012											
MED25	81857	broad.mit.edu	37	19	50334046	50334046	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:50334046G>A	ENST00000312865.6	+	9	1056	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	MED25_ENST00000538643.1_Missense_Mutation_p.A122T	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	335	Pro-rich.		A -> V (in CMT2B2; dbSNP:rs145770066). {ECO:0000269|PubMed:19290556}.		cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACCCCCTGGCGCCCCCAAGCC	0.706																																					GBM(51;894 1657 37868)	ENST00000312865.6											0			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(1003-1005)Gcc>Acc	mediator complex subunit 25						30	35	33					19																	50334046		2201	4297	6498	SO:0001583	missense	81857			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50334046G>A	AL136746	AL136746	CCDS33075.1	CCDS33075.1	19q13.3	2014-09-17	2007-07-30		2014-09-17	2007-07-30			ENSG00000104973		ENSG00000104973				28845	28845	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610197	610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"		"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	9110174, 11230166	Standard	Standard	NM_030973	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	uc002ppw.2	Q71SY5	Q71SY5			ENST00000312865.6:c.1003G>A	19.37:g.50334046G>A	ENSP00000326767:p.Ala335Thr		MED25_ENST00000538643.1_Missense_Mutation_p.A122T	p.A335T	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	9	1056	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	335	Pro-rich.	A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.1003G>A	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354663	0.82243	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	T;T	0.78481	-1.18;-1.18	5.58	4.55	0.56014	5.58	4.55	0.56014	Mediator complex, subunit Med25, synapsin 1 (1);	0.391114	0.27486	N	0.019141	T	0.69700	0.3140	N	0.19112	0.55	0.30512	N	0.769333	D;D;P	0.62365	0.991;0.99;0.898	P;P;B	0.52386	0.608;0.697;0.338	T	0.66168	-0.5991	10	0.21540	T	0.41	.	9.7827	0.40658	0.0775:0.1409:0.7817:0.0	.	122;335;335	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	T	335;335;335;335;335;122;70	ENSP00000326767:A335T;ENSP00000437496:A122T	ENSP00000326767:A335T	A	+	1	0	0	MED25	55025858	55025858	1.000000	0.71417	0.945000	0.38365	0.960000	0.62799	3.677000	0.54619	1.364000	0.46038	0.655000	0.94253	GCC		0.706	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1		13.243310	-10	-10	28	28	NM_030973		6	15.347964	15.347964	22	0.214286	0	0	0	1	0	6	22	0.214286	A	50334046	G	A	50334046	3	1	80	1	0	0	0	0	1	0	0	0	9443	1087	38	1	1037	1	MED25	19	50334046	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2129453	50334046	8794937	498	2013											
POLD1	5424	broad.mit.edu	37	19	50917082	50917082	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:50917082C>T	ENST00000440232.2	+	19	2387	c.2334C>T	c.(2332-2334)gcC>gcT	p.A778A	POLD1_ENST00000595904.1_Silent_p.A804A|POLD1_ENST00000599857.1_Silent_p.A778A|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	778					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCGGGAGGCCGCGGACTGGG	0.657								DNA polymerases (catalytic subunits)																														ENST00000440232.2											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2332-2334)gcC>gcT	polymerase (DNA directed), delta 1, catalytic subunit						60	59	60					19																	50917082		2203	4300	6503	SO:0001819	synonymous_variant	5424			base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50917082C>T			CCDS12795.1	CCDS12795.1	19q13.3	2014-09-17	2012-05-18		2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822	ENSG00000062822	ENSG00000062822		"DNA polymerases"	"DNA polymerases"	9175	9175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	"CDC2 homolog (S. cerevisiae)"	174761	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	1722322	Standard	Standard	NM_001256849	NM_001256849		Approved	CDC2	uc002psc.5	uc002psc.5	P28340	P28340			ENST00000440232.2:c.2334C>T	19.37:g.50917082C>T			POLD1_ENST00000595904.1_Silent_p.A804A|POLD1_ENST00000599857.1_Silent_p.A778A	p.A778A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	19	2387	+		all_neural(266;0.0571)	778		Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.2334C>T	CCDS12795.1																																																																																									0.657	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		20.546184	-2	-2	62	62			9	23.148021	23.148021	30	0.230769	0	0	0	1	0	9	30	0.230769	T	50917082	C	T	50917082	2	4	80	1	0	0	0	0	0	0	0	1	12190	639	23	1		1	POLD1	19	50917082	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	583036	50917082	8211901	499	2014											
MYBPC2	4606	broad.mit.edu	37	19	50958853	50958853	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:50958853G>A	ENST00000357701.5	+	20	2341	c.2290G>A	c.(2290-2292)Ggg>Agg	p.G764R		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	764	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAACAGGATCGGGGCAGGTGG	0.612																																						ENST00000357701.5											0			breast(1)	1						c.(2290-2292)Ggg>Agg	myosin binding protein C, fast type						78	84	82					19																	50958853		2046	4194	6240	SO:0001583	missense	4606			cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50958853G>A			CCDS46152.1	CCDS46152.1	19q13.33	2013-02-11	2001-11-28		2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967	ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	7550	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	"fast-type muscle myosin-binding-protein C"	160793	160793	"myosin-binding protein C, fast-type"		"myosin-binding protein C, fast-type"			8375400	8375400	Standard	Standard	NM_004533	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	uc002psf.2	Q14324	Q14324			ENST00000357701.5:c.2290G>A	19.37:g.50958853G>A	ENSP00000350332:p.Gly764Arg			p.G764R	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	20	2341	+		all_neural(266;0.057)	764	Fibronectin type-III 2.	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2290G>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.650724	0.87958	.	.	ENSG00000086967	ENST00000357701	T	0.56776	0.44	4.38	4.38	0.52667	4.38	4.38	0.52667	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.34067	U	0.004290	T	0.74966	0.3786	M	0.86178	2.8	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.79470	-0.1790	10	0.54805	T	0.06	.	16.1092	0.81247	0.0:0.0:1.0:0.0	.	764	Q14324	MYPC2_HUMAN	R	764	ENSP00000350332:G764R	ENSP00000350332:G764R	G	+	1	0	0	MYBPC2	55650665	55650665	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	8.851000	0.92205	2.187000	0.69744	0.454000	0.30748	GGG		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1		47.649383	5	5	103	103	NM_004533		17	50.496237	50.496237	45	0.274194	0	0	0	1	0	17	45	0.274194	A	50958853	G	A	50958853	3	1	80	1	0	0	0	0	1	0	0	0	10012	1116	39	1	2368	1	MYBPC2	19	50958853	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	41771	50958853	8170130	500	2015											
KIR2DL1	3811	broad.mit.edu	37	19	55284980	55284980	+	Intron	SNP	G	G	A	rs543746914		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:55284980G>A	ENST00000538269.1	+	2	61				KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.R89H|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89H|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.R89H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCCATCAGTCGCATGACGCAA	0.537													.|||	1	0.000199681	0	0	5008	,	,		18723	0.001		0	False		,,,				2504	0					ENST00000336077.6											1	Substitution - Missense(1)	prostate(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(265-267)cGc>cAc	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1						254	223	233					19																	55284980		2178	4210	6388	SO:0001627	intron_variant	3802			immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284980G>A	L41269	L41267	CCDS42621.1	CCDS12904.1	19q13.4	2014-05-22			2013-01-29			ENSG00000167633	ENSG00000167633	ENSG00000125498	ENSG00000125498		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	6329	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604946	604936		KIR				7716543, 7749980	7749980, 7716543	Standard	Standard	NM_013289	NM_014218		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		uc002qhb.1	P43629	P43626	OTTHUMG00000065933	OTTHUMG00000065885	ENST00000538269.1:c.35-44009G>A	19.37:g.55284980G>A			KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89H|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron	p.R89H	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	306	+			89	Ig-like C2-type 1.	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.266G>A		.	.	.	.	.	.	.	.	.	.	a	7.047	0.563636	0.13498	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.23147	1.92;1.92	1.24	0.114	0.14639	1.24	0.114	0.14639	.	.	.	.	.	T	0.12263	0.0298	N	0.11756	0.17	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.25187	-1.0139	9	0.66056	D	0.02	.	3.5284	0.07768	0.2873:0.4304:0.2823:0.0	.	89;89	Q6IST4;Q6H2H3	.;.	H	89	ENSP00000336769:R89H;ENSP00000291633:R89H	ENSP00000291633:R89H	R	+	2	0	0	KIR2DL1	59976792	59976792	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.081000	0.14823	-0.274000	0.09232	-2.943000	0.00086	CGC		0.537	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			72.348324	83	83	239	239	NM_013289		31	85.111598	85.111598	123	0.201299	0	0	0	1	0	31	123	0.201299	A	55284980	G	A	55284980	1	1	80	0	1	0	0	0	0	0	0	0	8316	1087	38	1		1	KIR2DL1	19	55284980	Intron	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4326127	55284980	3844003	501	2016											
KIR2DL4	3811	broad.mit.edu	37	19	55316274	55316274	+	Intron	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:55316274G>A	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_Missense_Mutation_p.A35T|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396284.2_Missense_Mutation_p.A33T|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.A35T|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.A35T			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTTCTGCTCTGCCTGGCCCAG	0.567																																						ENST00000396284.2											0			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.(97-99)Gcc>Acc	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4						34	33	33					19																	55316274		2121	3783	5904	SO:0001627	intron_variant	0						g.chr19:55316274G>A	L41269	X97229	CCDS42621.1	CCDS42619.1, CCDS42620.1	19q13.4	2014-05-22			2013-01-29			ENSG00000167633	ENSG00000167633		ENSG00000189013		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	6332	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604946	604945		KIR				7716543, 7749980	8946682	Standard	Standard	NM_013289	NM_001080772		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2			P43629	Q99706	OTTHUMG00000065933	OTTHUMG00000065880	ENST00000538269.1:c.35-12715G>A	19.37:g.55316274G>A			KIR2DL4_ENST00000357494.4_Missense_Mutation_p.A35T|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.A35T|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.A35T|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000402254.2_Intron	p.A33T						GBM - Glioblastoma multiforme(193;0.0192)	3	97	+					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.97G>A		.	.	.	.	.	.	.	.	.	.	G	13.45	2.239658	0.39598	.	.	ENSG00000189013	ENST00000396284;ENST00000359085;ENST00000345540;ENST00000357494;ENST00000396289	T;T;T;T;T	0.00864	5.6;5.6;5.6;5.6;5.6	1.42	0.342	0.15996	1.42	0.342	0.15996	Immunoglobulin-like fold (1);	0.551703	0.13505	U	0.382927	T	0.04048	0.0113	M	0.83603	2.65	0.09310	N	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.87578	0.989;0.993;0.992;0.998;0.996;0.993	T	0.32877	-0.9890	10	0.87932	D	0	.	3.5227	0.07748	0.2683:0.0:0.7317:0.0	.	35;33;35;35;35;35	Q99706;E7EST5;Q8N741;Q99706-4;Q99706-2;Q99706-3	KI2L4_HUMAN;.;.;.;.;.	T	33;35;35;35;33	ENSP00000379580:A33T;ENSP00000351988:A35T;ENSP00000339634:A35T;ENSP00000350088:A35T;ENSP00000379584:A33T	ENSP00000339634:A35T	A	+	1	0	0	KIR2DL4	60008086	60008086	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	0.244000	0.18124	0.156000	0.19299	0.205000	0.17691	GCC		0.567	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			12.330236	25	25	58	58	NM_013289		6	15.257325	15.257325	26	0.1875	0	0	0	1	0	6	26	0.1875	A	55316274	G	A	55316274	1	1	80	0	1	0	0	0	0	0	0	0	8318	1319	46	2		2	KIR2DL4	19	55316274	Intron	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	31294	55316274	3812709	502	2017											
NLRP4	147945	broad.mit.edu	37	19	56369494	56369494	+	Silent	SNP	G	G	A	rs545483573		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:56369494G>A	ENST00000301295.6	+	3	1157	c.735G>A	c.(733-735)tcG>tcA	p.S245S	NLRP4_ENST00000587891.1_Silent_p.S170S|NLRP4_ENST00000346986.5_Silent_p.S245S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	245	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AACCCGATTCGGATCTGTGTG	0.562													G|||	1	0.000199681	0	0	5008	,	,		17454	0		0	False		,,,				2504	0.001					ENST00000301295.6											0			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(733-735)tcG>tcA	NLR family, pyrin domain containing 4						80	84	82					19																	56369494		2203	4300	6503	SO:0001819	synonymous_variant	147945					ATP binding	g.chr19:56369494G>A	AF479747	AF479747	CCDS12936.1	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08	2009-03-27	2006-12-08	2006-12-08						"Nucleotide-binding domain and leucine rich repeat containing"	"Nucleotide-binding domain and leucine rich repeat containing"	22943	22943	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	12563287, 12019269	Standard	Standard	NM_134444	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	uc002qmd.4	Q96MN2	Q96MN2			ENST00000301295.6:c.735G>A	19.37:g.56369494G>A			NLRP4_ENST00000587891.1_Silent_p.S170S|NLRP4_ENST00000346986.5_Silent_p.S245S	p.S245S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1157	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	245	NACHT.	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.735G>A	CCDS12936.1																																																																																									0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		82.952827	-4	-4	101	101	NM_134444		26	83.014015	83.014015	30	0.464286	0	0	0	1	0	26	30	0.464286	A	56369494	G	A	56369494	2	1	80	1	0	0	0	0	0	0	0	1	10479	1103	39	1		1	NLRP4	19	56369494	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1053220	56369494	2759489	503	2018											
ZSCAN1	284312	broad.mit.edu	37	19	58549469	58549469	+	Missense_Mutation	SNP	G	G	A	rs148253808		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:58549469G>A	ENST00000282326.1	+	3	512	c.265G>A	c.(265-267)Gcg>Acg	p.A89T	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	89	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.A89T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTTCCTGGGCGCGCTGCCCAG	0.692													G|||	1	0.000199681	0	0	5008	,	,		10629	0		0	False		,,,				2504	0.001					ENST00000282326.1											1	Substitution - Missense(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(265-267)Gcg>Acg	zinc finger and SCAN domain containing 1	G	THR/ALA	1,4393		0,1,2196	17	17	17		265	-1.9	0	19	dbSNP_134	17	0,8588		0,0,4294	no	missense	ZSCAN1	NM_182572.3	58	0,1,6490	AA,AG,GG		0.0,0.0228,0.0077	benign	89/409	58549469	1,12981	2197	4294	6491	SO:0001583	missense	284312			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549469G>A	AK091098	AK091098	CCDS12969.1	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467	ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	"-", "Zinc fingers, C2H2-type"	23712	23712	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"zinc finger with SCAN domain 1"		"zinc finger with SCAN domain 1"			12477932	12477932	Standard	Standard	NM_182572	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	uc002qrc.1	Q8NBB4	Q8NBB4	OTTHUMG00000183381	OTTHUMG00000183381	ENST00000282326.1:c.265G>A	19.37:g.58549469G>A	ENSP00000282326:p.Ala89Thr		ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T	p.A89T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	512	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	89	SCAN box.	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.265G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378188	0.61735	2.28E-4	0.0	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.04360	3.64;3.64	2.08	-1.9	0.07665	2.08	-1.9	0.07665	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.05502	0.0145	L	0.38733	1.17	0.09310	N	1	P;P	0.52170	0.95;0.951	P;B	0.51999	0.687;0.404	T	0.32375	-0.9909	9	0.27082	T	0.32	.	1.9367	0.03338	0.3721:0.0:0.362:0.2659	.	89;89	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	T	89	ENSP00000375581:A89T;ENSP00000282326:A89T	ENSP00000282326:A89T	A	+	1	0	0	ZSCAN1	63241281	63241281	0.000000	0.05858	0.034000	0.17996	0.964000	0.63967	0.070000	0.14573	-0.194000	0.10399	0.393000	0.25936	GCG		0.692	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1		24.897877	-6	-6	23	23	NM_182572		8	24.946256	24.946256	10	0.444444	0	0	0	1	0	8	10	0.444444	A	58549469	G	A	58549469	3	1	80	1	0	0	0	0	1	0	0	0	18223	1087	38	1	267	1	ZSCAN1	19	58549469	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2179975	58549469	579514	504	2019											
ZNF324	25799	broad.mit.edu	37	19	58983109	58983109	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:58983109G>A	ENST00000536459.2	+	4	1959	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	ZNF324_ENST00000196482.3_Missense_Mutation_p.R417H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R194H|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	417					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AAGCACCAGCGCGTGCACACA	0.662																																						ENST00000536459.2											0			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1249-1251)cGc>cAc	zinc finger protein 324						41	41	41					19																	58983109		2203	4299	6502	SO:0001583	missense	25799			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983109G>A	AF060503	AF060503	CCDS12981.1	CCDS12981.1	19q13.43	2013-01-08			2013-01-08				ENSG00000083812		ENSG00000083812		"Zinc fingers, C2H2-type", "-"	"Zinc fingers, C2H2-type", "-"	14096	14096	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_014347	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	uc002qsw.2	O75467	O75467			ENST00000536459.2:c.1250G>A	19.37:g.58983109G>A	ENSP00000444812:p.Arg417His		ZNF324_ENST00000196482.3_Missense_Mutation_p.R417H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R194H	p.R417H			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1959	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	417		B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1250G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565449	0.65651	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.25749	1.78;1.78;1.78	3.84	3.84	0.44239	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38663	N	0.001606	T	0.52901	0.1763	M	0.82823	2.61	0.39593	D	0.969614	D	0.89917	1.0	D	0.85130	0.997	T	0.62282	-0.6887	10	0.72032	D	0.01	.	14.0557	0.64767	0.0:0.0:1.0:0.0	.	417	O75467	Z324A_HUMAN	H	417;417;407;194	ENSP00000196482:R417H;ENSP00000444812:R417H;ENSP00000439588:R194H	ENSP00000196482:R417H	R	+	2	0	0	ZNF324	63674921	63674921	0.855000	0.29742	0.948000	0.38648	0.519000	0.34347	4.700000	0.61803	2.433000	0.82419	0.400000	0.26472	CGC		0.662	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1		75.030971	-12	-12	45	45	NM_014347		24	75.092981	75.092981	28	0.461538	0	0	0	1	0	24	28	0.461538	A	58983109	G	A	58983109	3	1	80	1	0	0	0	0	1	0	0	0	17841	1087	38	1	1260	1	ZNF324	19	58983109	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	433640	58983109	145874	505	2020											
ANGPT4	51378	broad.mit.edu	37	20	860425	860425	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:860425C>T	ENST00000381922.3	-	6	1120	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	340	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGAAAATTCACGGTGCCATTC	0.617																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3											0			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1018-1020)Gtg>Atg	angiopoietin 4						82	75	78					20																	860425		2203	4300	6503	SO:0001583	missense	51378			anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:860425C>T	AF074332	AF074332	CCDS13009.1	CCDS13009.1	20p13	2013-02-06			2013-02-06			ENSG00000101280	ENSG00000101280	ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	"Fibrinogen C domain containing"	487	487	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603705	603705						10051567, 10218486	10051567, 10218486	Standard	Standard	NM_015985	NM_015985		Approved		uc002wei.3	uc002wei.3	Q9Y264	Q9Y264	OTTHUMG00000031652	OTTHUMG00000031652	ENST00000381922.3:c.1018G>A	20.37:g.860425C>T	ENSP00000371347:p.Val340Met		ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M	p.V340M	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			6	1120	-			340	Fibrinogen C-terminal.	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1018G>A	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	9.573	1.121658	0.20877	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.35236	1.82;1.32	5.44	2.45	0.29901	5.44	2.45	0.29901	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.355854	0.25458	N	0.030524	T	0.49372	0.1553	H	0.97707	4.06	0.09310	N	0.999996	D;P	0.55385	0.971;0.945	B;B	0.41860	0.368;0.131	T	0.57957	-0.7721	10	0.87932	D	0	.	5.0409	0.14458	0.1203:0.6288:0.1165:0.1344	.	340;340	B4E3J9;Q9Y264	.;ANGP4_HUMAN	M	340	ENSP00000371347:V340M;ENSP00000439605:V340M	ENSP00000371347:V340M	V	-	1	0	0	ANGPT4	808425	808425	0.123000	0.22298	0.001000	0.08648	0.205000	0.24178	0.891000	0.28309	0.411000	0.25702	0.655000	0.94253	GTG		0.617	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1		15.505245	11	11	66	66	NM_015985		7	18.233221	18.233221	27	0.205882	0	0	0	1	0	7	27	0.205882	T	860425	C	T	860425	3	4	80	1	0	0	0	0	1	0	0	0	612	536	19	1	509	1	ANGPT4	20	860425	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		860425	62165095	506	2021											
PSMF1	9491	broad.mit.edu	37	20	1143802	1143802	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:1143802G>A	ENST00000335877.6	+	5	756	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	PSMF1_ENST00000246015.4_Missense_Mutation_p.G194R|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.G106R|PSMF1_ENST00000333082.3_Missense_Mutation_p.G194R|PSMF1_ENST00000438768.2_Missense_Mutation_p.G132R	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	194	Pro-rich.				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 endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GTTTGTTGTCGGGGGAGAAGA	0.507																																						ENST00000335877.6											0			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(580-582)Ggg>Agg	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)						154	108	123					20																	1143802		2203	4300	6503	SO:0001583	missense	9491			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 core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1143802G>A	D88378	D88378	CCDS13010.1	CCDS13010.1	20p13	2008-07-02			2008-07-02			ENSG00000125818	ENSG00000125818	ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	"Proteasome (prosome, macropain) subunits"	9571	9571	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"	"proteasome inhibitor hP131 subunit"								10363639	10363639	Standard	Standard	NM_006814	NM_006814		Approved	PI31	uc002wen.4	uc002wen.4	Q92530	Q92530	OTTHUMG00000031656	OTTHUMG00000031656	ENST00000335877.6:c.580G>A	20.37:g.1143802G>A	ENSP00000338039:p.Gly194Arg		PSMF1_ENST00000333082.3_Missense_Mutation_p.G194R|PSMF1_ENST00000438768.2_Missense_Mutation_p.G132R|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.G106R|PSMF1_ENST00000246015.4_Missense_Mutation_p.G194R	p.G194R	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			5	756	+			194	Pro-rich.	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	c.580G>A	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940451	0.92526	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000246015;ENST00000335877;ENST00000438768	T;D;T;T;T	0.82893	-0.31;-1.66;-0.57;-0.31;-0.62	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.93658	0.6979	10	0.72032	D	0.01	-15.2157	16.8273	0.85934	0.0:0.0:1.0:0.0	.	132;106;106;194;194	E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;.;PSMF1_HUMAN	R	194;106;194;194;132	ENSP00000327704:G194R;ENSP00000371323:G106R;ENSP00000246015:G194R;ENSP00000338039:G194R;ENSP00000401404:G132R	ENSP00000246015:G194R	G	+	1	0	0	PSMF1	1091802	1091802	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.897000	0.87356	2.735000	0.93741	0.561000	0.74099	GGG		0.507	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2		43.277950	-6	-6	49	49	NM_178578		13	43.314368	43.314368	11	0.541667	0	0	0	1	0	13	11	0.541667	A	1143802	G	A	1143802	3	1	80	1	0	0	0	0	1	0	0	0	12710	1116	39	1	598	1	PSMF1	20	1143802	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	283377	1143802	61881718	507	2022											
ProSAPiP1	9762	broad.mit.edu	37	20	3145195	3145195	+	Missense_Mutation	SNP	C	C	T	rs144495581		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:3145195C>T	ENST00000329152.3	-	3	3324	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T	LZTS3_ENST00000360342.3_Missense_Mutation_p.A597T|LZTS3_ENST00000337576.5_Missense_Mutation_p.A597T			O60299	LZTS3_HUMAN		643						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GCACCCCCTGCGGCCCCGCGC	0.647																																						ENST00000329152.3											0										c.(1927-1929)Gca>Aca							47	46	46					20																	3145195		2203	4299	6502	SO:0001583	missense	0						g.chr20:3145195C>T																																																	ENST00000329152.3:c.1927G>A	20.37:g.3145195C>T	ENSP00000332123:p.Ala643Thr		LZTS3_ENST00000337576.5_Missense_Mutation_p.A597T|LZTS3_ENST00000360342.3_Missense_Mutation_p.A597T	p.A643T							3	3324	-					A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.1927G>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	7.640	0.680649	0.14907	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.30182	1.54;1.54;1.54	4.69	1.46	0.22682	4.69	1.46	0.22682	.	0.317648	0.31760	N	0.007114	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	P;P	0.46656	0.882;0.813	B;B	0.36030	0.216;0.081	T	0.23940	-1.0174	10	0.20519	T	0.43	-13.436	6.5022	0.22176	0.3173:0.5937:0.0:0.0891	.	597;643	O60299-2;O60299	.;PRIP1_HUMAN	T	643;597;597	ENSP00000332123:A643T;ENSP00000353496:A597T;ENSP00000338166:A597T	ENSP00000332123:A643T	A	-	1	0	0	RP5-1187M17.10	3093195	3093195	0.036000	0.19791	0.019000	0.16419	0.718000	0.41266	0.167000	0.16602	0.566000	0.29273	0.555000	0.69702	GCA		0.647	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2		68.851441	7	7	52	52			22	68.856542	68.856542	21	0.511628	0	0	0	1	0	22	21	0.511628	T	3145195	C	T	3145195	3	4	80	1	0	0	0	0	1	0	0	0	12870	768	27	1	98	1	ProSAPiP1	20	3145195	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2001393	3145195	59880325	508	2023											
LRRN4	164312	broad.mit.edu	37	20	6021826	6021826	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:6021826C>T	ENST00000378858.4	-	5	2289	c.2065G>A	c.(2065-2067)Gcc>Acc	p.A689T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	689					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCTGGCGGCGCACAGCCCA	0.716																																						ENST00000378858.4											0			breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(2065-2067)Gcc>Acc	leucine rich repeat neuronal 4						9	10	10					20																	6021826		2185	4257	6442	SO:0001583	missense	164312				integral to membrane		g.chr20:6021826C>T	AL118505	AL118505	CCDS13097.1	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	"Fibronectin type III domain containing"	16208	16208	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"chromosome 20 open reading frame 75"	C20orf75	"chromosome 20 open reading frame 75"	C20orf75		15870286	15870286	Standard	Standard	NM_152611	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	uc002wmo.3	Q8WUT4	Q8WUT4	OTTHUMG00000031825	OTTHUMG00000031825	ENST00000378858.4:c.2065G>A	20.37:g.6021826C>T	ENSP00000368135:p.Ala689Thr			p.A689T	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	2289	-			689		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.2065G>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060641	0.36373	.	.	ENSG00000125872	ENST00000378858	T	0.59638	0.25	5.54	-0.18	0.13295	5.54	-0.18	0.13295	.	0.584607	0.17286	N	0.179835	T	0.34221	0.0890	L	0.34521	1.04	0.09310	N	1	B	0.29037	0.231	B	0.14023	0.01	T	0.12218	-1.0556	10	0.16896	T	0.51	-10.6341	4.9182	0.13856	0.1315:0.481:0.0:0.3876	.	689	Q8WUT4	LRRN4_HUMAN	T	689	ENSP00000368135:A689T	ENSP00000368135:A689T	A	-	1	0	0	LRRN4	5969826	5969826	0.000000	0.05858	0.032000	0.17829	0.159000	0.22180	-0.197000	0.09518	-0.021000	0.14009	0.655000	0.94253	GCC		0.716	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2		12.963135	5	5	14	14	NM_152611		4	12.902227	12.902227	0	1	0	0	0	1	0	4	0	1	T	6021826	C	T	6021826	3	4	80	1	0	0	0	0	1	0	0	0	9037	768	27	1	161	1	LRRN4	20	6021826	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2876631	6021826	57003694	509	2024											
PLCB4	5332	broad.mit.edu	37	20	9389753	9389753	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:9389753G>A	ENST00000378493.1	+	20	1903	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N	PLCB4_ENST00000378501.2_Missense_Mutation_p.D630N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642N			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGGCCGAGTCGATTCCAGTAA	0.448																																						ENST00000378501.2											0			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1888-1890)Gat>Aat	phospholipase C, beta 4						67	57	60					20																	9389753		2203	4300	6503	SO:0001583	missense	5332			intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389753G>A			CCDS13104.1, CCDS13105.1, CCDS54447.1	CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			2008-03-18			ENSG00000101333	ENSG00000101333	ENSG00000101333	ENSG00000101333	3.1.4.11			9059	9059	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600810	600810						8530101	8530101	Standard	Standard	NM_000933	NM_000933		Approved		uc021wam.1	uc021wam.1	Q15147	Q15147	OTTHUMG00000031853	OTTHUMG00000031853	ENST00000378493.1:c.1888G>A	20.37:g.9389753G>A	ENSP00000367754:p.Asp630Asn		PLCB4_ENST00000378493.1_Missense_Mutation_p.D630N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642N	p.D630N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			20	1903	+			630	PI-PLC Y-box.	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1888G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638738	0.96693	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	6.04	6.04	0.98038	6.04	6.04	0.98038	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.63428	1.95	0.80722	D	1	P;B;D;P	0.76494	0.869;0.224;0.999;0.909	P;B;D;B	0.76071	0.514;0.084;0.987;0.379	T	0.71391	-0.4607	10	0.62326	D	0.03	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	642;477;630;630	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	N	630;642;630;630;630;478	ENSP00000334105:D630N;ENSP00000367734:D642N;ENSP00000278655:D630N;ENSP00000367754:D630N;ENSP00000367762:D630N;ENSP00000390616:D478N	ENSP00000278655:D630N	D	+	1	0	0	PLCB4	9337753	9337753	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAT		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		25.414297	-41	-41	61	61			12	31.649886	31.649886	54	0.181818	0	0	0	1	0	12	54	0.181818	A	9389753	G	A	9389753	3	1	80	1	0	0	0	0	1	0	0	0	12030	1058	37	1	2006	1	PLCB4	20	9389753	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3367927	9389753	53635767	510	2025											
C20orf26	26074	broad.mit.edu	37	20	20177279	20177279	+	Silent	SNP	C	C	T	rs78795550		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:20177279C>T	ENST00000245957.5	+	16	1732	c.1656C>T	c.(1654-1656)cgC>cgT	p.R552R	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		552										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACCACCAGCGCGAAGAACACG	0.463													C|||	1	0.000199681	0	0	5008	,	,		20321	0.001		0	False		,,,				2504	0					ENST00000245957.5											0			NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1654-1656)cgC>cgT	chromosome 20 open reading frame 26	C		1,4405	2.1+/-5.4	0,1,2202	153	125	135		1656	-10	0.2	20	dbSNP_132	135	0,8600		0,0,4300	no	coding-synonymous	C20orf26	NM_015585.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		552/1238	20177279	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26074						g.chr20:20177279C>T																																																	ENST00000245957.5:c.1656C>T	20.37:g.20177279C>T			C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	p.R552R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1732	+			552		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.1656C>T	CCDS33447.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.621	1.133941	0.21123	2.27E-4	0.0	ENSG00000089101	ENST00000431753	.	.	.	5.83	-10.0	0.00425	5.83	-10.0	0.00425	.	.	.	.	.	T	0.32224	0.0822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41378	-0.9512	4	.	.	.	.	1.8644	0.03195	0.2904:0.0963:0.3508:0.2625	.	.	.	.	V	92	.	.	A	+	2	0	0	C20orf26	20125279	20125279	0.000000	0.05858	0.178000	0.23040	0.981000	0.71138	-2.349000	0.01093	-1.563000	0.01680	-0.150000	0.13652	GCG		0.463	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		37.923168	-7	-7	75	75			14	39.222537	39.222537	30	0.318182	0	0	0	1	0	14	30	0.318182	T	20177279	C	T	20177279	2	4	80	1	0	0	0	0	0	0	0	1	2106	755	27	1		1	C20orf26	20	20177279	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10787526	20177279	42848241	511	2026											
CD93	22918	broad.mit.edu	37	20	23065702	23065702	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:23065702G>A	ENST00000246006.4	-	1	1275	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	376	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTCCAGGACCGCCCGGCTCAT	0.632																																						ENST00000246006.4											0			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1126-1128)ggC>ggT	CD93 molecule						44	45	45					20																	23065702		2203	4300	6503	SO:0001819	synonymous_variant	22918			cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065702G>A	U94333	U94333	CCDS13149.1	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810	ENSG00000125810	ENSG00000125810		"CD molecules"	"CD molecules"	15855	15855	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120577	120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	9047234, 10648005	Standard	Standard	NM_012072	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	uc002wsv.3	Q9NPY3	Q9NPY3	OTTHUMG00000032058	OTTHUMG00000032058	ENST00000246006.4:c.1128C>T	20.37:g.23065702G>A				p.G376G	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1275	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		376	EGF-like 3; calcium-binding (Potential).	O00274	Silent	SNP	ENST00000246006.4	37	c.1128C>T	CCDS13149.1																																																																																									0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2		2.003013	-21	-21	30	30	NM_012072		3	6.544737	6.544737	26	0.103448	0	0	0	1	0	3	26	0.103448	A	23065702	G	A	23065702	2	1	80	1	0	0	0	0	0	0	0	1	3047	1074	38	1		1	CD93	20	23065702	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2888423	23065702	39959818	512	2027											
FOXS1	2307	broad.mit.edu	37	20	30433147	30433147	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:30433147G>A	ENST00000375978.3	-	1	273	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	67					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AGGTTGTGGCGGATGCTGTTC	0.642																																						ENST00000375978.3											0			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(199-201)Cgc>Tgc	forkhead box S1						85	69	74					20																	30433147		2203	4300	6503	SO:0001583	missense	2307			anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30433147G>A	AF042831	AF042831	CCDS13192.1	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	"Forkhead boxes"	3735	3735	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602939	602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	9325056, 17062144	Standard	Standard	NM_004118	NM_004118		Approved	FREAC10	uc002wwt.1	uc002wwt.1	O43638	O43638	OTTHUMG00000032183	OTTHUMG00000032183	ENST00000375978.3:c.199C>T	20.37:g.30433147G>A	ENSP00000365145:p.Arg67Cys			p.R67C	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	273	-			67		Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.199C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765813	0.69878	.	.	ENSG00000179772	ENST00000375978	D	0.98120	-4.73	4.76	4.76	0.60689	4.76	4.76	0.60689	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.47093	D	0.000245	D	0.99315	0.9760	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98085	1.0406	10	0.87932	D	0	.	11.7085	0.51612	0.0:0.0:0.8232:0.1768	.	67	O43638	FOXS1_HUMAN	C	67	ENSP00000365145:R67C	ENSP00000365145:R67C	R	-	1	0	0	FOXS1	29896808	29896808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.058000	0.49939	2.484000	0.83849	0.555000	0.69702	CGC		0.642	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2		-0.004776	-6	-6	87	87	NM_004118		3	6.875698	6.875698	35	0.078947	0	0	0	1	0	3	35	0.078947	A	30433147	G	A	30433147	3	1	80	1	0	0	0	0	1	0	0	0	6035	1116	39	1	797	1	FOXS1	20	30433147	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7367445	30433147	32592373	513	2028											
SUN5	140732	broad.mit.edu	37	20	31571673	31571673	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:31571673C>T	ENST00000356173.3	-	13	1159	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	SUN5_ENST00000375523.3_Missense_Mutation_p.R331H	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	356	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CACTCGCACGCGGTACAGGCA	0.557																																						ENST00000356173.3											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(1066-1068)cGc>cAc	Sad1 and UNC84 domain containing 5						84	92	90					20																	31571673		2203	4300	6503	SO:0001583	missense	140732			spermatogenesis			g.chr20:31571673C>T	AL121756	AL121756	CCDS13209.1	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098	ENSG00000167098	ENSG00000167098				16252	16252	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	"testis and spermatogenesis related gene 4"	613942	613942	"sperm associated antigen 4-like"	SPAG4L	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	9691178, 10373309	Standard	Standard	NM_080675	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	uc002wyi.3	Q8TC36	Q8TC36	OTTHUMG00000032239	OTTHUMG00000032239	ENST00000356173.3:c.1067G>A	20.37:g.31571673C>T	ENSP00000348496:p.Arg356His		SUN5_ENST00000375523.3_Missense_Mutation_p.R331H	p.R356H	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN			13	1159	-			356	SUN.	A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.1067G>A	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352931	0.82132	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.80480	-1.38;-1.38	4.86	4.86	0.63082	4.86	4.86	0.63082	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90003	0.6879	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91434	0.5168	10	0.87932	D	0	-21.1096	13.8647	0.63581	0.0:1.0:0.0:0.0	.	356	Q8TC36	SUN5_HUMAN	H	356;331	ENSP00000348496:R356H;ENSP00000364673:R331H	ENSP00000348496:R356H	R	-	2	0	0	SUN5	31035334	31035334	1.000000	0.71417	0.949000	0.38748	0.695000	0.40330	5.510000	0.67018	2.408000	0.81797	0.655000	0.94253	CGC		0.557	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1		18.075101	22	22	150	150	NM_080675		11	27.073959	27.073959	64	0.146667	0	0	0	1	0	11	64	0.146667	T	31571673	C	T	31571673	3	4	80	1	0	0	0	0	1	0	0	0	15391	768	27	1	76	1	SUN5	20	31571673	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1138526	31571673	31453847	514	2029											
PIGU	128869	broad.mit.edu	37	20	33169374	33169374	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:33169374G>A	ENST00000374820.2	-	9	989	c.969C>T	c.(967-969)ccC>ccT	p.P323P	PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Silent_p.P343P			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	343					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGTTCCACACGGGGAAGAAGG	0.532																																						ENST00000374820.2											0			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						c.(967-969)ccC>ccT	phosphatidylinositol glycan anchor biosynthesis, class U						62	46	51					20																	33169374		2203	4300	6503	SO:0001819	synonymous_variant	128869			attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33169374G>A	AL118520	AL118520	CCDS13239.1	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464	ENSG00000101464	ENSG00000101464		"Phosphatidylinositol glycan anchor biosynthesis"	"Phosphatidylinositol glycan anchor biosynthesis"	15791	15791	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"GPI transamidase subunit"	"GPI transamidase subunit"	608528	608528	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1	"CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1", "CDC91 cell division cycle 91-like 1 (S. cerevisiae)"	CDC91L1		12802054, 15034568	12802054, 15034568	Standard	Standard	NM_080476	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	uc002xas.3	Q9H490	Q9H490	OTTHUMG00000032304	OTTHUMG00000032304	ENST00000374820.2:c.969C>T	20.37:g.33169374G>A			PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Silent_p.P343P	p.P323P			Q9H490	PIGU_HUMAN			9	989	-			343		Q7Z489|Q8N2F2	Silent	SNP	ENST00000374820.2	37	c.969C>T																																																																																										0.532	PIGU-201	KNOWN	basic	protein_coding	protein_coding			14.169991	-6	-6	10	10	NM_080476		5	14.539005	14.539005	10	0.333333	0	0	0	1	0	5	10	0.333333	A	33169374	G	A	33169374	2	1	80	1	0	0	0	0	0	0	0	1	11900	1103	39	1		1	PIGU	20	33169374	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1597701	33169374	29856146	515	2030											
NCOA6	23054	broad.mit.edu	37	20	33328468	33328468	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:33328468G>A	ENST00000374796.2	-	12	8162	c.5592C>T	c.(5590-5592)ctC>ctT	p.L1864L	NCOA6_ENST00000359003.2_Silent_p.L1864L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1864	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGTTCCCATGAGCCCCGGAG	0.542																																						ENST00000374796.2											0			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(5590-5592)ctC>ctT	nuclear receptor coactivator 6						107	109	108					20																	33328468		2203	4300	6503	SO:0001819	synonymous_variant	23054			brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33328468G>A	AF128458	AF128458	CCDS13241.1, CCDS74720.1	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			2008-08-01			ENSG00000198646	ENSG00000198646	ENSG00000198646	ENSG00000198646				15936	15936	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299	605299						8724849, 8263591	8724849, 8263591	Standard	Standard	NM_014071	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	uc002xaw.3	Q14686	Q14686	OTTHUMG00000032311	OTTHUMG00000032311	ENST00000374796.2:c.5592C>T	20.37:g.33328468G>A			NCOA6_ENST00000359003.2_Silent_p.L1864L	p.L1864L			Q14686	NCOA6_HUMAN			12	8162	-			1864	EP300/CRSP3-binding region.	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.5592C>T	CCDS13241.1																																																																																									0.542	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		105.731545	-13	-13	87	87	NM_014071		35	105.744744	105.744744	33	0.514706	0	0	0	1	0	35	33	0.514706	A	33328468	G	A	33328468	2	1	80	1	0	0	0	0	0	0	0	1	10233	1277	45	3		3	NCOA6	20	33328468	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	159094	33328468	29697052	516	2031											
RBL1	5933	broad.mit.edu	37	20	35635830	35635830	+	Missense_Mutation	SNP	G	G	A	rs374029496		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:35635830G>A	ENST00000373664.3	-	20	2921	c.2855C>T	c.(2854-2856)gCg>gTg	p.A952V	RBL1_ENST00000344359.3_Missense_Mutation_p.A952V	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	952					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTCCTGATTCGCCAAGTCGTA	0.323																																						ENST00000373664.3											0			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2854-2856)gCg>gTg	retinoblastoma-like 1 (p107)	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	136	131	133		2855,2855	5.3	1	20		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RBL1	NM_183404.1,NM_002895.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	952/1015,952/1069	35635830	1,13005	2203	4300	6503	SO:0001583	missense	5933			cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35635830G>A	L14812	L14812	CCDS13289.1, CCDS13290.1	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839	ENSG00000080839	ENSG00000080839				9893	9893	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			116957	116957						1833063	1833063	Standard	Standard	NM_183404	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	uc002xgi.3	P28749	P28749	OTTHUMG00000032406	OTTHUMG00000032406	ENST00000373664.3:c.2855C>T	20.37:g.35635830G>A	ENSP00000362768:p.Ala952Val		RBL1_ENST00000344359.3_Missense_Mutation_p.A952V	p.A952V	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			20	2921	-		Myeloproliferative disorder(115;0.00878)	952		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2855C>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621766	0.66787	0.0	1.16E-4	ENSG00000080839	ENST00000373664;ENST00000344359	T;T	0.51071	0.72;0.72	5.29	5.29	0.74685	5.29	5.29	0.74685	Cyclin-like (2);	0.303746	0.30302	N	0.009927	T	0.38825	0.1055	L	0.27053	0.805	0.22754	N	0.998774	B;B	0.25719	0.132;0.109	B;B	0.24269	0.049;0.052	T	0.20840	-1.0263	10	0.34782	T	0.22	-7.4906	19.1061	0.93296	0.0:0.0:1.0:0.0	.	952;952	P28749-2;P28749	.;RBL1_HUMAN	V	952	ENSP00000362768:A952V;ENSP00000343646:A952V	ENSP00000343646:A952V	A	-	2	0	0	RBL1	35069244	35069244	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.882000	0.87258	2.752000	0.94435	0.585000	0.79938	GCG		0.323	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2		17.709772	-9	-9	54	54	NM_002895		7	19.662332	19.662332	23	0.233333	0	0	0	1	0	7	23	0.233333	A	35635830	G	A	35635830	3	1	80	1	0	0	0	0	1	0	0	0	13109	1087	38	1	372	1	RBL1	20	35635830	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2307362	35635830	27389690	517	2032											
ZHX3	23051	broad.mit.edu	37	20	39831218	39831218	+	Missense_Mutation	SNP	C	C	T	rs371613858		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:39831218C>T	ENST00000309060.3	-	4	2754	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q	ZHX3_ENST00000432768.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000559234.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000540170.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000544979.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	780					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AAAGAGCTGCCGCAGCAAGTG	0.587																																						ENST00000309060.3											0			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2338-2340)cGg>cAg	zinc fingers and homeoboxes 3	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77	82	80		2339	6.1	1	20		80	0,8600		0,0,4300	no	missense	ZHX3	NM_015035.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	780/957	39831218	1,13005	2203	4300	6503	SO:0001583	missense	23051			negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831218C>T	AB007855	AB007855	CCDS13315.1	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	15935	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609598	609598	"triple homeobox 1"	TIX1	"triple homeobox 1"	TIX1		9455477	9455477	Standard	Standard	XM_005260343	XM_005260343		Approved	KIAA0395	uc002xjs.1	uc002xjs.1	Q9H4I2	Q9H4I2	OTTHUMG00000032481	OTTHUMG00000032481	ENST00000309060.3:c.2339G>A	20.37:g.39831218C>T	ENSP00000312222:p.Arg780Gln		ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000544979.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000559234.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000560361.1_Missense_Mutation_p.R780Q	p.R780Q			Q9H4I2	ZHX3_HUMAN			4	2754	-		Myeloproliferative disorder(115;0.00425)	780		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.2339G>A	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788874	0.70337	2.27E-4	0.0	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	D;D;D	0.91686	-2.89;-2.89;-2.89	6.07	6.07	0.98685	6.07	6.07	0.98685	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.051068	0.64402	D	0.000001	D	0.92479	0.7612	M	0.70275	2.135	0.47153	D	0.999331	P;D;D	0.60575	0.919;0.963;0.988	B;P;P	0.51999	0.407;0.489;0.687	D	0.91027	0.4861	10	0.42905	T	0.14	-26.6728	7.9852	0.30207	0.0:0.8162:0.0:0.1838	.	780;780;780	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	Q	780;780;780;780;558	ENSP00000362360:R780Q;ENSP00000442290:R780Q;ENSP00000443783:R780Q	ENSP00000312222:R780Q	R	-	2	0	0	ZHX3	39264632	39264632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.085000	0.57657	2.884000	0.98904	0.655000	0.94253	CGG		0.587	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3		2.862408	-3	-3	123	123	NM_015035		7	17.155861	17.155861	75	0.085366	0	0	0	1	0	7	75	0.085366	T	39831218	C	T	39831218	3	4	80	1	0	0	0	0	1	0	0	0	17674	652	23	1	539	1	ZHX3	20	39831218	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4195388	39831218	23194302	518	2033											
JPH2	57158	broad.mit.edu	37	20	42788529	42788529	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:42788529G>A	ENST00000372980.3	-	2	1770	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	300					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAGCCCGAGCGTTTGTCGTTC	0.687																																						ENST00000372980.3											0			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(898-900)Cgc>Tgc	junctophilin 2						58	51	53					20																	42788529		2203	4300	6503	SO:0001583	missense	57158			calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788529G>A	AL034419	AL034419	CCDS13325.1, CCDS13326.1	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			2014-09-17			ENSG00000149596	ENSG00000149596	ENSG00000149596	ENSG00000149596				14202	14202	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605267	605267						10891348, 10949023	10891348, 10949023	Standard	Standard	XM_006723832	XM_006723832		Approved	JP-2	uc002xli.1	uc002xli.1	Q9BR39	Q9BR39	OTTHUMG00000033037	OTTHUMG00000033037	ENST00000372980.3:c.898C>T	20.37:g.42788529G>A	ENSP00000362071:p.Arg300Cys			p.R300C	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1770	-		Myeloproliferative disorder(115;0.0122)	300		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.898C>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	16.62	3.175181	0.57692	.	.	ENSG00000149596	ENST00000372980	T	0.59638	0.25	3.1	3.1	0.35709	3.1	3.1	0.35709	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80957	-0.1150	10	0.87932	D	0	.	14.3498	0.66694	0.0:0.0:1.0:0.0	.	300	Q9BR39	JPH2_HUMAN	C	300	ENSP00000362071:R300C	ENSP00000362071:R300C	R	-	1	0	0	JPH2	42221943	42221943	1.000000	0.71417	0.998000	0.56505	0.192000	0.23643	9.137000	0.94496	1.545000	0.49373	0.298000	0.19748	CGC		0.687	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1		6.616093	-14	-14	20	20			3	7.872025	7.872025	12	0.2	0	0	0	1	0	3	12	0.2	A	42788529	G	A	42788529	3	1	80	1	0	0	0	0	1	0	0	0	7961	1145	40	1	1208	1	JPH2	20	42788529	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2957311	42788529	20236991	519	2034											
GDAP1L1	78997	broad.mit.edu	37	20	42885898	42885898	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:42885898G>A	ENST00000342560.5	+	2	374	c.286G>A	c.(286-288)Gag>Aag	p.E96K	GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.E96K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	96	GST N-terminal.							p.E96K(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAACCTGGGCGAGGAGGTGCC	0.612																																						ENST00000342560.5											1	Substitution - Missense(1)	lung(1)	endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18						c.(286-288)Gag>Aag	ganglioside induced differentiation associated protein 1-like 1						122	75	91					20																	42885898		2203	4300	6503	SO:0001583	missense	78997						g.chr20:42885898G>A			CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194	ENSG00000124194	ENSG00000124194				4213	4213	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_024034	NM_024034		Approved		uc010zwl.3	uc010zwl.3	Q96MZ0	Q96MZ0	OTTHUMG00000032530	OTTHUMG00000032530	ENST00000342560.5:c.286G>A	20.37:g.42885898G>A	ENSP00000341782:p.Glu96Lys		GDAP1L1_ENST00000372952.3_Missense_Mutation_p.E96K|GDAP1L1_ENST00000537864.1_Intron	p.E96K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	374	+		Myeloproliferative disorder(115;0.0122)	96	GST N-terminal.	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.286G>A	CCDS13328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.032983|5.032983	0.93575|0.93575	.|.	.|.	ENSG00000124194|ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000372952|ENST00000445952	T;T;T|.	0.62498|.	0.02;0.02;1.84|.	5.55|5.55	5.55|5.55	0.83447|0.83447	5.55|5.55	5.55|5.55	0.83447|0.83447	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51534|0.51534	0.1680|0.1680	N|N	0.13098|0.13098	0.295|0.295	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;0.999;1.0|.	D;D;D;D|.	0.83275|.	0.993;0.941;0.913;0.996|.	T|T	0.42816|0.42816	-0.9429|-0.9429	10|5	0.59425|.	D|.	0.04|.	.|.	19.3061|19.3061	0.94163|0.94163	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	96;96;96;42|.	B7Z1I3;B7Z621;Q96MZ0;Q5JY50|.	.;.;GD1L1_HUMAN;.|.	K|Q	96;94;96;65;96;96|42	ENSP00000341782:E96K;ENSP00000392881:E96K;ENSP00000362043:E96K|.	ENSP00000341782:E96K|.	E|R	+|+	1|2	0|0	0|0	GDAP1L1|GDAP1L1	42319312|42319312	42319312|42319312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.229000|9.229000	0.95273|0.95273	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.612	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1		17.643343	-12	-12	25	25	NM_024034		6	18.216696	18.216696	13	0.315789	0	0	0	1	0	6	13	0.315789	A	42885898	G	A	42885898	3	1	80	1	0	0	0	0	1	0	0	0	6308	1059	37	1	292	1	GDAP1L1	20	42885898	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	97369	42885898	20139622	520	2035											
ELMO2	63916	broad.mit.edu	37	20	45000478	45000478	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:45000478A>G	ENST00000290246.6	-	17	1741	c.1547T>C	c.(1546-1548)aTg>aCg	p.M516T	ELMO2_ENST00000445496.2_Missense_Mutation_p.M333T|ELMO2_ENST00000352077.2_Missense_Mutation_p.M514T|ELMO2_ENST00000372176.1_Missense_Mutation_p.M428T|ELMO2_ENST00000396391.1_Missense_Mutation_p.M516T|ELMO2_ENST00000439931.2_Missense_Mutation_p.M528T|ELMO2_ENST00000454865.2_Missense_Mutation_p.M248T|ELMO2_ENST00000488853.1_5'Flank	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	516					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATCCTGACTCATCCTCTCAGA	0.547																																						ENST00000372176.1											0			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1282-1284)aTg>aCg	engulfment and cell motility 2						79	73	75					20																	45000478		2203	4300	6503	SO:0001583	missense	63916			apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45000478A>G	AF398886	AF398886	CCDS13398.1	CCDS13398.1	20q13	2010-03-18	2006-01-20		2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598	ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	"Engulfment and cell motility proteins"	17233	17233	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606421	606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"		"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	11595183	Standard	Standard	NM_133171	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	uc002xru.1	Q96JJ3	Q96JJ3	OTTHUMG00000033070	OTTHUMG00000033070	ENST00000290246.6:c.1547T>C	20.37:g.45000478A>G	ENSP00000290246:p.Met516Thr		ELMO2_ENST00000439931.2_Missense_Mutation_p.M528T|ELMO2_ENST00000454865.2_Missense_Mutation_p.M248T|ELMO2_ENST00000396391.1_Missense_Mutation_p.M516T|ELMO2_ENST00000352077.2_Missense_Mutation_p.M514T|ELMO2_ENST00000445496.2_Missense_Mutation_p.M333T|ELMO2_ENST00000290246.6_Missense_Mutation_p.M516T	p.M428T			Q96JJ3	ELMO2_HUMAN			17	1751	-		Myeloproliferative disorder(115;0.0122)	516	ELMO.	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.1283T>C	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	A	5.037	0.192575	0.09599	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	4.79	4.79	0.61399	4.79	4.79	0.61399	.	0.037568	0.85682	D	0.000000	T	0.25494	0.0620	N	0.20685	0.6	0.80722	D	1	B;B;B;B	0.16802	0.019;0.0;0.008;0.008	B;B;B;B	0.21151	0.016;0.002;0.033;0.024	T	0.07731	-1.0757	10	0.02654	T	1	-26.9287	13.9627	0.64191	1.0:0.0:0.0:0.0	.	528;248;333;516	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	T	516;428;83;516;528;333;248;514	ENSP00000290246:M516T;ENSP00000361249:M428T;ENSP00000414329:M83T;ENSP00000379673:M516T;ENSP00000396519:M528T;ENSP00000409920:M333T;ENSP00000415641:M248T;ENSP00000326172:M514T	ENSP00000290246:M516T	M	-	2	0	0	ELMO2	44433885	44433885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.129000	0.65627	0.533000	0.62120	ATG		0.547	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1		-2.739875	-18	-18	65	65	NM_022086		4	8.392302	8.392302	54	0.068966	0	0	0	1	0	4	54	0.068966	G	45000478	A	G	45000478	3	3	80	1	0	0	0	0	1	0	0	0	5066	217	8	4	639	4	ELMO2	20	45000478	Missense_Mutation	SNP	A	TCGA-YZ-A985-01A-11D-A39W-08	2114580	45000478	18025042	521	2036											
DIDO1	11083	broad.mit.edu	37	20	61511261	61511261	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:61511261G>A	ENST00000266070.4	-	16	6372	c.6047C>T	c.(6046-6048)cCg>cTg	p.P2016L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2016	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CATCACCTGCGGGGCCTGGCC	0.687																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4											0			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6046-6048)cCg>cTg	death inducer-obliterator 1						36	47	44					20																	61511261		2177	4264	6441	SO:0001583	missense	11083			apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511261G>A	AB002331	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	"Zinc fingers, PHD-type"	2680	2680	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604140	604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	10393935	Standard	Standard	NM_033081	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	uc002ydr.2	Q9BTC0	Q9BTC0	OTTHUMG00000032945	OTTHUMG00000032945	ENST00000266070.4:c.6047C>T	20.37:g.61511261G>A	ENSP00000266070:p.Pro2016Leu		DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6372	-	Breast(26;5.68e-08)		2016	Pro-rich.	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6047C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	8.112	0.778986	0.16120	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09255	3.0;3.0	4.94	3.92	0.45320	4.94	3.92	0.45320	.	1.080270	0.07312	N	0.876107	T	0.09512	0.0234	L	0.36672	1.1	0.19300	N	0.99998	P	0.50819	0.939	B	0.34242	0.178	T	0.28299	-1.0048	10	0.62326	D	0.03	-1.6771	12.2577	0.54633	0.0:0.0:0.7274:0.2726	.	2016	Q9BTC0	DIDO1_HUMAN	L	2016	ENSP00000266070:P2016L;ENSP00000378752:P2016L	ENSP00000266070:P2016L	P	-	2	0	0	DIDO1	60981706	60981706	0.822000	0.29219	0.029000	0.17559	0.088000	0.18126	2.359000	0.44142	2.277000	0.76020	0.561000	0.74099	CCG		0.687	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		96.015998	-8	-8	120	120	NM_080796		31	96.376796	96.376796	42	0.424658	0	0	0	1	0	31	42	0.424658	A	61511261	G	A	61511261	3	1	80	1	0	0	0	0	1	0	0	0	4522	1116	39	1	679	1	DIDO1	20	61511261	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	16510783	61511261	1514259	522	2037											
RUNX1	861	broad.mit.edu	37	21	36171666	36171666	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:36171666G>A	ENST00000344691.4	-	5	2395	c.818C>T	c.(817-819)aCg>aTg	p.T273M	RUNX1_ENST00000437180.1_Missense_Mutation_p.T300M|RUNX1_ENST00000399240.1_Missense_Mutation_p.T209M|RUNX1_ENST00000325074.5_Missense_Mutation_p.T288M|RUNX1_ENST00000300305.3_Missense_Mutation_p.T300M	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	273	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T300fs*12(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGAAATGGGCGTTGCTGGGTG	0.522			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																	ENST00000344691.4		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(817-819)aCg>aTg	runt-related transcription factor 1						186	158	168					21																	36171666		2203	4300	6503	SO:0001583	missense	861			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36171666G>A	X79549	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216	ENSG00000159216	ENSG00000159216				10471	10471	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"aml1 oncogene"	"aml1 oncogene"	151385	151385	"acute myeloid leukemia 1"	AML1, CBFA2	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	1427868, 7835892	Standard	Standard	NM_001001890	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	uc010gmv.3	Q01196	Q01196	OTTHUMG00000086299	OTTHUMG00000086299	ENST00000344691.4:c.818C>T	21.37:g.36171666G>A	ENSP00000340690:p.Thr273Met		RUNX1_ENST00000437180.1_Missense_Mutation_p.T300M|RUNX1_ENST00000399240.1_Missense_Mutation_p.T209M|RUNX1_ENST00000325074.5_Missense_Mutation_p.T288M|RUNX1_ENST00000300305.3_Missense_Mutation_p.T300M	p.T273M	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN			5	2395	-			273	Pro/Ser/Thr-rich.	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	c.818C>T	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022717	0.54683	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.201478	0.52532	D	0.000068	D	0.92724	0.7687	M	0.64567	1.98	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.994;1.0	P;P;P;P;P	0.57846	0.828;0.809;0.795;0.799;0.818	D	0.92793	0.6250	10	0.66056	D	0.02	-14.8679	19.6065	0.95583	0.0:0.0:1.0:0.0	.	276;168;300;288;273	C9JK12;Q01196-11;Q01196-8;Q01196-10;Q01196	.;.;.;.;RUNX1_HUMAN	M	273;300;300;288;209;34;276	ENSP00000340690:T273M;ENSP00000300305:T300M;ENSP00000409227:T300M;ENSP00000319459:T288M;ENSP00000382184:T209M	ENSP00000300305:T300M	T	-	2	0	0	RUNX1	35093536	35093536	1.000000	0.71417	0.905000	0.35620	0.981000	0.71138	5.201000	0.65163	2.731000	0.93534	0.650000	0.86243	ACG		0.522	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1		32.779473	11	11	101	101			15	39.469573	39.469573	62	0.194805	0	0	0	1	0	15	62	0.194805	A	36171666	G	A	36171666	3	1	80	1	0	0	0	0	1	0	0	0	13746	1145	40	1	551	1	RUNX1	21	36171666	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		36171666	11958229	523	2038											
HLCS	3141	broad.mit.edu	37	21	38137355	38137355	+	Silent	SNP	G	G	A	rs536830110		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:38137355G>A	ENST00000399120.1	-	9	2868	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S	HLCS_ENST00000336648.4_Silent_p.S546S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	546	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CGACAGCCACGGACATCAGAT	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		21068	0		0	False		,,,				2504	0					ENST00000399120.1											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1636-1638)tcC>tcT	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)						151	123	132					21																	38137355		2203	4300	6503	SO:0001819	synonymous_variant	3141			cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38137355G>A			CCDS13647.1	CCDS13647.1	21q22.1	2012-07-13	2010-04-30		2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15			4976	4976	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609018	609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"		"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	7842009	Standard	Standard	NM_000411	NM_000411		Approved	HCS	uc021wjb.1	uc021wjb.1	P50747	P50747	OTTHUMG00000086636	OTTHUMG00000086636	ENST00000399120.1:c.1638C>T	21.37:g.38137355G>A			HLCS_ENST00000336648.4_Silent_p.S546S	p.S546S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			9	2868	-		Myeloproliferative disorder(46;0.0422)	546		B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.1638C>T	CCDS13647.1																																																																																									0.532	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2		51.895509	0	0	62	62			16	52.101765	52.101765	22	0.421053	0	0	0	1	0	16	22	0.421053	A	38137355	G	A	38137355	2	1	80	1	0	0	0	0	0	0	0	1	7213	1103	39	1		1	HLCS	21	38137355	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1965689	38137355	9992540	524	2039											
TRPM2	7226	broad.mit.edu	37	21	45784126	45784126	+	Silent	SNP	C	C	T	rs143653746		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:45784126C>T	ENST00000397928.1	+	3	829	c.384C>T	c.(382-384)ggC>ggT	p.G128G	TRPM2_ENST00000397932.2_Silent_p.G128G|TRPM2_ENST00000300481.9_Silent_p.G128G|TRPM2_ENST00000300482.5_Silent_p.G128G	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	128					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						ATGCCTTTGGCGACATCGTCT	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		21085	0		0	False		,,,				2504	0					ENST00000397928.1											0			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						c.(382-384)ggC>ggT	transient receptor potential cation channel, subfamily M, member 2	C		3,4403	6.2+/-15.9	0,3,2200	181	139	153		384	-1.8	1	21	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	TRPM2	NM_003307.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		128/1504	45784126	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7226				integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45784126C>T	AB001535	AB001535	CCDS13710.1	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	12339	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603749	603749		TRPC7		TRPC7		9806837, 11385575, 16382100	9806837, 11385575, 16382100	Standard	Standard	NR_038257	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	uc002zew.1	O94759	O94759	OTTHUMG00000040840	OTTHUMG00000040840	ENST00000397928.1:c.384C>T	21.37:g.45784126C>T			TRPM2_ENST00000300482.5_Silent_p.G128G|TRPM2_ENST00000300481.9_Silent_p.G128G|TRPM2_ENST00000397932.2_Silent_p.G128G	p.G128G	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN			3	829	+			128		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.384C>T	CCDS13710.1																																																																																									0.562	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		32.916276	-16	-16	69	69	NM_003307		11	33.605903	33.605903	21	0.34375	0	0	0	1	0	11	21	0.34375	T	45784126	C	T	45784126	2	4	80	1	0	0	0	0	0	0	0	1	16583	755	27	1		1	TRPM2	21	45784126	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7646771	45784126	2345769	525	2040											
SLC19A1	6573	broad.mit.edu	37	21	46951857	46951857	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:46951857G>A	ENST00000311124.4	-	3	547	c.395C>T	c.(394-396)gCg>gTg	p.A132V	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A132V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A132V|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A92V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	132					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GGCGATGCGCGCGGCCATGGT	0.667																																						ENST00000311124.4											0			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(394-396)gCg>gTg	solute carrier family 19 (folate transporter), member 1						20	22	21					21																	46951857		2193	4292	6485	SO:0001583	missense	6573			folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951857G>A	U15939	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			2013-05-22			ENSG00000173638	ENSG00000173638	ENSG00000173638	ENSG00000173638		"Solute carriers"	"Solute carriers"	10937	10937	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600424	600424						9570943	9570943	Standard	Standard	NM_194255	NM_194255		Approved	FOLT	uc002zhl.2	uc002zhl.2	P41440	P41440	OTTHUMG00000090397	OTTHUMG00000090397	ENST00000311124.4:c.395C>T	21.37:g.46951857G>A	ENSP00000308895:p.Ala132Val		SLC19A1_ENST00000485649.2_Missense_Mutation_p.A92V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A132V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A132V	p.A132V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	547	-			132		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.395C>T	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518952	0.64634	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.95	4.95	0.65309	4.95	4.95	0.65309	Major facilitator superfamily domain, general substrate transporter (1);	0.114089	0.56097	D	0.000022	D	0.95522	0.8545	M	0.91196	3.185	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;0.998;0.998;0.994	D;P;P;P	0.72982	0.979;0.87;0.87;0.87	D	0.96378	0.9279	10	0.72032	D	0.01	-37.0548	17.1012	0.86651	0.0:0.0:1.0:0.0	.	92;154;132;132	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	V	132;132;92;132;132	ENSP00000308895:A132V;ENSP00000369347:A132V;ENSP00000441772:A92V;ENSP00000401850:A132V;ENSP00000411345:A132V	ENSP00000308895:A132V	A	-	2	0	0	SLC19A1	45776285	45776285	1.000000	0.71417	0.076000	0.20297	0.002000	0.02628	7.113000	0.77095	2.460000	0.83146	0.462000	0.41574	GCG		0.667	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1		16.677804	-3	-3	12	12			5	16.966272	16.966272	2	0.714286	0	0	0	1	0	5	2	0.714286	A	46951857	G	A	46951857	3	1	80	1	0	0	0	0	1	0	0	0	14428	1087	38	1	1396	1	SLC19A1	21	46951857	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1167731	46951857	1178038	526	2041											
SLC25A18	83733	broad.mit.edu	37	22	18072420	18072420	+	Silent	SNP	C	C	T	rs556042476		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:18072420C>T	ENST00000327451.6	+	10	1333	c.795C>T	c.(793-795)acC>acT	p.T265T	SLC25A18_ENST00000399813.1_Silent_p.T265T|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	265						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)	p.T265T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		GTGGGATCACCGACTGTGCCA	0.488													C|||	1	0.000199681	8e-04	0	5008	,	,		18701	0		0	False		,,,				2504	0				Colon(118;1560 1625 18964 29606 50093)	ENST00000327451.6											1	Substitution - coding silent(1)	kidney(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18						c.(793-795)acC>acT	solute carrier family 25 (glutamate carrier), member 18						80	76	77					22																	18072420		2203	4300	6503	SO:0001819	synonymous_variant	83733				integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18072420C>T	AY008285	AY008285	CCDS13744.1	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902	ENSG00000182902	ENSG00000182902		"Solute carriers"	"Solute carriers"	10988	10988	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609303	609303	"solute carrier family 25 (mitochondrial carrier), member 18"		"solute carrier family 25 (mitochondrial carrier), member 18"			11381032, 11897791	11381032, 11897791	Standard	Standard	NM_031481	NM_031481		Approved		uc002zmp.1	uc002zmp.1	Q9H1K4	Q9H1K4	OTTHUMG00000150089	OTTHUMG00000150089	ENST00000327451.6:c.795C>T	22.37:g.18072420C>T			SLC25A18_ENST00000399813.1_Silent_p.T265T	p.T265T	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	10	1333	+						Silent	SNP	ENST00000327451.6	37	c.795C>T	CCDS13744.1																																																																																									0.488	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3		20.318302	-6	-6	53	53	NM_031481		7	20.834764	20.834764	14	0.333333	0	0	0	1	0	7	14	0.333333	T	18072420	C	T	18072420	2	4	80	1	0	0	0	0	0	0	0	1	14480	639	23	1		1	SLC25A18	22	18072420	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		18072420	33232146	527	2042											
YPEL1	29799	broad.mit.edu	37	22	22057670	22057670	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:22057670C>T	ENST00000339468.3	-	4	642	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	87						nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					TATTTCCACCCGAGCGTGGTC	0.622																																						ENST00000339468.3											0			breast(1)|large_intestine(1)|lung(1)	3						c.(259-261)Ggg>Agg	yippee-like 1 (Drosophila)						148	116	127					22																	22057670		2203	4300	6503	SO:0001583	missense	29799				nucleus		g.chr22:22057670C>T	AF060862	AF060862	CCDS13794.1	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027	ENSG00000100027	ENSG00000100027				12845	12845	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608082	608082	"yippee (Drosophila) homolog-like 1"		"yippee (Drosophila) homolog-like 1"			11473580	11473580	Standard	Standard	NM_013313	NM_013313		Approved		uc002zvl.3	uc002zvl.3	O60688	O60688	OTTHUMG00000150830	OTTHUMG00000150830	ENST00000339468.3:c.259G>A	22.37:g.22057670C>T	ENSP00000342832:p.Gly87Arg			p.G87R	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN			4	642	-	Colorectal(54;0.105)		87		Q65ZA1|Q6GLI6	Missense_Mutation	SNP	ENST00000339468.3	37	c.259G>A	CCDS13794.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984089	0.93044	.	.	ENSG00000100027	ENST00000339468	.	.	.	4.06	4.06	0.47325	4.06	4.06	0.47325	.	0.000000	0.85682	D	0.000000	D	0.89774	0.6812	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93527	0.6866	9	0.87932	D	0	.	17.6172	0.88071	0.0:1.0:0.0:0.0	.	87	O60688	YPEL1_HUMAN	R	87	.	ENSP00000342832:G87R	G	-	1	0	0	YPEL1	20387670	20387670	1.000000	0.71417	0.999000	0.59377	0.718000	0.41266	7.650000	0.83521	2.574000	0.86865	0.558000	0.71614	GGG		0.622	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1		89.530416	-17	-17	60	60	NM_013313		27	89.693654	89.693654	21	0.5625	0	0	0	1	0	27	21	0.5625	T	22057670	C	T	22057670	3	4	80	1	0	0	0	0	1	0	0	0	17486	652	23	1	108	1	YPEL1	22	22057670	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3985250	22057670	29246896	528	2043											
ADRBK2	157	broad.mit.edu	37	22	26086189	26086189	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:26086189G>A	ENST00000324198.6	+	12	1183	c.991G>A	c.(991-993)Gca>Aca	p.A331T		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	331	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.A331T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACATGGACACGCAAGAATATC	0.413																																						ENST00000324198.6											1	Substitution - Missense(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(991-993)Gca>Aca	adrenergic, beta, receptor kinase 2						126	115	119					22																	26086189		2203	4300	6503	SO:0001583	missense	157					ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26086189G>A	X69117	X69117	CCDS13832.1	CCDS13832.1	22q11	2013-01-10			2013-01-10			ENSG00000100077	ENSG00000100077	ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	"Pleckstrin homology (PH) domain containing"	290	290	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			109636	109636						7695743	7695743	Standard	Standard	NM_005160	NM_005160		Approved	GRK3, BARK2	uc003abx.4	uc003abx.4	P35626	P35626	OTTHUMG00000150280	OTTHUMG00000150280	ENST00000324198.6:c.991G>A	22.37:g.26086189G>A	ENSP00000317578:p.Ala331Thr			p.A331T	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			12	1183	+				Protein kinase.	Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.991G>A	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082989	0.36758	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.26223	1.75	4.49	4.49	0.54785	4.49	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.066369	0.64402	D	0.000012	T	0.26774	0.0655	L	0.42529	1.33	0.33464	D	0.585318	B;B	0.21381	0.012;0.055	B;B	0.26202	0.01;0.067	T	0.36163	-0.9759	10	0.56958	D	0.05	-17.4726	16.7419	0.85461	0.0:0.0:1.0:0.0	.	331;331	A8K869;P35626	.;ARBK2_HUMAN	T	331	ENSP00000317578:A331T	ENSP00000317578:A331T	A	+	1	0	0	ADRBK2	24416189	24416189	1.000000	0.71417	0.169000	0.22859	0.058000	0.15608	9.003000	0.93577	2.485000	0.83878	0.655000	0.94253	GCA		0.413	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4		-1.106898	-22	-22	96	96	NM_005160		6	14.245079	14.245079	76	0.073171	0	0	0	1	0	6	76	0.073171	A	26086189	G	A	26086189	3	1	80	1	0	0	0	0	1	0	0	0	344	1087	38	1	1037	1	ADRBK2	22	26086189	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4028519	26086189	25218377	529	2044											
ZMAT5	55954	broad.mit.edu	37	22	30134421	30134421	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:30134421C>T	ENST00000344318.3	-	5	397	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	ZMAT5_ENST00000397781.3_Missense_Mutation_p.R94Q	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	94					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTCCCTGGCTCGCCTCTCCTC	0.612																																						ENST00000397781.3											0			large_intestine(1)|lung(1)|ovary(1)	3						c.(280-282)cGa>cAa	zinc finger, matrin-type 5						48	44	45					22																	30134421		2203	4300	6503	SO:0001583	missense	55954			mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding	g.chr22:30134421C>T			CCDS13868.1	CCDS13868.1	22q12.2	2013-09-20	2010-09-15		2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319	ENSG00000100319	ENSG00000100319		"Zinc fingers, matrin-type"	"Zinc fingers, matrin-type"	28046	28046	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"U11/U12 snRNP 20K"	"U11/U12 snRNP 20K"								9847074	9847074	Standard	Standard	NM_019103	NM_019103		Approved	SNRNP20	uc003agn.3	uc003agn.3	Q9UDW3	Q9UDW3	OTTHUMG00000151292	OTTHUMG00000151292	ENST00000344318.3:c.281G>A	22.37:g.30134421C>T	ENSP00000344241:p.Arg94Gln		ZMAT5_ENST00000344318.3_Missense_Mutation_p.R94Q	p.R94Q	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)		6	531	-			94		A8K9F6	Missense_Mutation	SNP	ENST00000344318.3	37	c.281G>A	CCDS13868.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251849	0.39797	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.14	2.94	0.34122	5.14	2.94	0.34122	.	0.112278	0.64402	D	0.000015	T	0.39545	0.1082	M	0.65498	2.005	0.44227	D	0.997061	P	0.39737	0.685	B	0.24541	0.054	T	0.32188	-0.9916	9	0.27785	T	0.31	-35.6225	8.5325	0.33344	0.1618:0.7525:0.0:0.0856	.	94	Q9UDW3	ZMAT5_HUMAN	Q	94	.	ENSP00000344241:R94Q	R	-	2	0	0	ZMAT5	28464421	28464421	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.140000	0.50585	1.401000	0.46761	0.603000	0.83216	CGA		0.612	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1		11.163508	-7	-7	44	44	NM_019103		5	12.665866	12.665866	17	0.227273	0	0	0	1	0	5	17	0.227273	T	30134421	C	T	30134421	3	4	80	1	0	0	0	0	1	0	0	0	17692	884	31	1	239	1	ZMAT5	22	30134421	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4048232	30134421	21170145	530	2045											
DEPDC5	9681	broad.mit.edu	37	22	32239098	32239098	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:32239098C>T	ENST00000382112.3	+	27	2576	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	DEPDC5_ENST00000382111.2_Missense_Mutation_p.R845C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R767C|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R767C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R845C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R845C	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	845					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTCCCGAAACCGCCCTGAGGA	0.443																																						ENST00000400246.1											0			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2533-2535)Cgc>Tgc	DEP domain containing 5						90	83	85					22																	32239098		1963	4156	6119	SO:0001583	missense	9681			intracellular signal transduction			g.chr22:32239098C>T	AB014545	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			2013-04-29			ENSG00000100150	ENSG00000100150	ENSG00000100150	ENSG00000100150				18423	18423	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614191	614191						23542697, 23542701	23542697, 23542701	Standard	Standard	NM_001242896	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	uc011alu.2	O75140	O75140	OTTHUMG00000030926	OTTHUMG00000030926	ENST00000382112.3:c.2506C>T	22.37:g.32239098C>T	ENSP00000371546:p.Arg836Cys		DEPDC5_ENST00000400248.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R767C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R845C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R767C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R836C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R845C	p.R845C			O75140	DEPD5_HUMAN			28	2675	+			836		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2533C>T	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.06|19.06	3.754560|3.754560	0.69648|0.69648	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.68|5.68	4.64|4.64	0.57946|0.57946	5.68|5.68	4.64|4.64	0.57946|0.57946	.|.	.|0.060343	.|0.64402	.|D	.|0.000002	T|T	0.42988|0.42988	0.1227|0.1227	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999;0.999	.|D;P;P;P;P;P	.|0.79108	.|0.992;0.891;0.891;0.897;0.719;0.791	T|T	0.28522|0.28522	-1.0041|-1.0041	5|10	.|0.54805	.|T	.|0.06	.|.	10.0209|10.0209	0.42041|0.42041	0.2636:0.6052:0.1312:0.0|0.2636:0.6052:0.1312:0.0	.|.	.|166;845;767;845;836;836	.|B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	L|C	242|767;845;836;767;845;767;836;845;836	.|ENSP00000440210:R767C;ENSP00000266091:R845C;ENSP00000383108:R836C;ENSP00000383105:R845C;ENSP00000371539:R767C;ENSP00000371546:R836C;ENSP00000371545:R845C;ENSP00000383107:R836C	.|ENSP00000266091:R845C	P|R	+|+	2|1	0|0	0|0	DEPDC5|DEPDC5	30569098|30569098	30569098|30569098	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	2.022000|2.022000	0.41030|0.41030	1.366000|1.366000	0.46076|0.46076	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.443	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		10.518738	7	7	60	60	NM_014662		6	16.389938	16.389938	39	0.133333	0	0	0	1	0	6	39	0.133333	T	32239098	C	T	32239098	3	4	80	1	0	0	0	0	1	0	0	0	4442	652	23	1	2630	1	DEPDC5	22	32239098	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2104677	32239098	19065468	531	2046											
MYH9	4627	broad.mit.edu	37	22	36684926	36684926	+	Silent	SNP	C	C	T	rs369996404		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:36684926C>T	ENST00000216181.5	-	33	4847	c.4617G>A	c.(4615-4617)acG>acA	p.T1539T	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1539					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTTCCAGCTGCGTCTTCATCT	0.632			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5		Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4615-4617)acG>acA	myosin, heavy chain 9, non-muscle	C		1,4405	2.1+/-5.4	0,1,2202	99	92	94		4617	-4.9	0.9	22		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH9	NM_002473.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1539/1961	36684926	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36684926C>T			CCDS13927.1	CCDS13927.1	22q13.1	2014-09-17	2006-09-29		2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345	ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	"Myosins / Myosin superfamily : Class II"	7579	7579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	"nonmuscle myosin heavy chain II-A"	160775	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	1860190, 11023810	Standard	Standard	NM_002473	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	uc003apg.3	P35579	P35579	OTTHUMG00000030429	OTTHUMG00000030429	ENST00000216181.5:c.4617G>A	22.37:g.36684926C>T				p.T1539T	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			33	4847	-			1539		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.4617G>A	CCDS13927.1																																																																																									0.632	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		-10.672674	-14	-14	108	108	NM_002473		4	8.187794	8.187794	82	0.046512	0	0	0	1	0	4	82	0.046512	T	36684926	C	T	36684926	2	4	80	1	0	0	0	0	0	0	0	1	10042	755	27	1		1	MYH9	22	36684926	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4445828	36684926	14619640	532	2047											
TXN2	25828	broad.mit.edu	37	22	36876736	36876736	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:36876736C>T	ENST00000216185.2	-	2	615	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R50Q			Q99757	THIOM_HUMAN	thioredoxin 2	50					cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						GTATATTGTCCGGGCTGGGTT	0.552																																						ENST00000216185.2											0			breast(1)|lung(1)|prostate(1)	3						c.(148-150)cGg>cAg	thioredoxin 2						157	133	142					22																	36876736		2203	4300	6503	SO:0001583	missense	25828			cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36876736C>T	U78678	U78678	CCDS13928.1	CCDS13928.1	22q13.1	2008-06-11			2008-06-11			ENSG00000100348	ENSG00000100348	ENSG00000100348	ENSG00000100348				17772	17772	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609063	609063						9006939, 17220299	9006939, 17220299	Standard	Standard	NM_012473	NM_012473		Approved	MT-TRX	uc003apk.1	uc003apk.1	Q99757	Q99757	OTTHUMG00000150596	OTTHUMG00000150596	ENST00000216185.2:c.149G>A	22.37:g.36876736C>T	ENSP00000216185:p.Arg50Gln		TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R50Q	p.R50Q			Q99757	THIOM_HUMAN			2	615	-			50		Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	37	c.149G>A	CCDS13928.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179378	0.57800	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.13657	2.57;2.57	5.59	1.16	0.20824	5.59	1.16	0.20824	Thioredoxin-like fold (1);	0.194220	0.42294	N	0.000734	T	0.13670	0.0331	M	0.66939	2.045	0.33751	D	0.620594	D	0.58620	0.983	B	0.43052	0.406	T	0.23976	-1.0173	10	0.46703	T	0.11	-13.0814	5.2403	0.15467	0.0:0.5432:0.1382:0.3186	.	50	Q99757	THIOM_HUMAN	Q	50	ENSP00000216185:R50Q;ENSP00000385393:R50Q	ENSP00000216185:R50Q	R	-	2	0	0	TXN2	35206682	35206682	0.912000	0.30974	0.969000	0.41365	0.090000	0.18270	2.182000	0.42556	0.343000	0.23821	-0.355000	0.07637	CGG		0.552	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1		77.665512	-37	-37	73	73	NM_012473		25	78.029008	78.029008	35	0.416667	0	0	0	1	0	25	35	0.416667	T	36876736	C	T	36876736	3	4	80	1	0	0	0	0	1	0	0	0	16788	652	23	1	363	1	TXN2	22	36876736	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	191810	36876736	14427830	533	2048											
IFT27	11020	broad.mit.edu	37	22	37163883	37163883	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:37163883C>T	ENST00000433985.2	-	2	478	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	IFT27_ENST00000340630.5_Missense_Mutation_p.A19T|IFT27_ENST00000453009.2_5'UTR	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27	20					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCCAGGGCGGTCTTGCCC	0.512																																						ENST00000340630.5											0			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(55-57)Gcc>Acc	intraflagellar transport 27 homolog (Chlamydomonas)						210	198	202					22																	37163883		2203	4300	6503	SO:0001583	missense	11020			small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	g.chr22:37163883C>T	Z80897	Z80897	CCDS13932.1, CCDS54523.1	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360	ENSG00000100360	ENSG00000100360		"Intraflagellar transport homologs", "RAB, member RAS oncogene"	"Intraflagellar transport homologs", "RAB, member RAS oncogene"	18626	18626	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615870	615870	"RAB, member of RAS oncogene family-like 4", "intraflagellar transport 27 homolog (Chlamydomonas)"	RABL4	"RAB, member of RAS oncogene family-like 4", "intraflagellar transport 27 homolog (Chlamydomonas)"	RABL4		12529303, 17276912	12529303, 17276912	Standard	Standard	NM_001177701	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	uc003apv.3	Q9BW83	Q9BW83	OTTHUMG00000150544	OTTHUMG00000150544	ENST00000433985.2:c.58G>A	22.37:g.37163883C>T	ENSP00000393541:p.Ala20Thr		IFT27_ENST00000453009.2_5'UTR|IFT27_ENST00000433985.2_Missense_Mutation_p.A20T	p.A19T	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN			2	500	-			20		O60897	Missense_Mutation	SNP	ENST00000433985.2	37	c.55G>A	CCDS54523.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231071	0.39399	.	.	ENSG00000100360	ENST00000340630;ENST00000433985;ENST00000417951;ENST00000430701	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.5	3.46	0.39613	4.5	3.46	0.39613	Small GTP-binding protein domain (1);	0.209151	0.41294	D	0.000903	T	0.76111	0.3942	L	0.49126	1.545	0.80722	D	1	D;P;P;P	0.69078	0.997;0.899;0.954;0.835	P;B;B;B	0.57960	0.83;0.236;0.313;0.416	T	0.75897	-0.3155	10	0.49607	T	0.09	.	8.4676	0.32966	0.0:0.8151:0.0:0.1849	.	59;19;20;19	F5GZ09;B1AH58;Q9BW83;Q9BW83-2	.;.;IFT27_HUMAN;.	T	19;20;59;19	ENSP00000343593:A19T;ENSP00000393541:A20T;ENSP00000392016:A59T;ENSP00000390016:A19T	ENSP00000343593:A19T	A	-	1	0	0	IFT27	35493829	35493829	0.763000	0.28462	0.921000	0.36526	0.487000	0.33371	1.307000	0.33516	2.060000	0.61445	0.561000	0.74099	GCC		0.512	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			-27.860253	-4	-4	236	236	NM_006860		5	10.057954	10.057954	153	0.031646	0	0	0	1	0	5	153	0.031646	T	37163883	C	T	37163883	3	4	80	1	0	0	0	0	1	0	0	0	7559	768	27	1	526	1	IFT27	22	37163883	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	287147	37163883	14140683	534	2049											
RAC2	5880	broad.mit.edu	37	22	37628860	37628860	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:37628860G>A	ENST00000249071.6	-	3	327	c.206C>T	c.(205-207)cCg>cTg	p.P69L	RAC2_ENST00000405484.1_Missense_Mutation_p.P62L|RAC2_ENST00000406508.1_Missense_Mutation_p.P25L	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	69					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	ATAGGAGAGCGGCCGGAGACG	0.592																																						ENST00000249071.6											0			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(205-207)cCg>cTg	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)						87	61	70					22																	37628860		2203	4300	6503	SO:0001583	missense	5880			axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37628860G>A	M64595	M64595	CCDS13945.1	CCDS13945.1	22q13.1	2014-09-17			2014-09-17			ENSG00000128340	ENSG00000128340	ENSG00000128340	ENSG00000128340		"Endogenous ligands"	"Endogenous ligands"	9802	9802	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602049	602049						2674130	2674130	Standard	Standard	NM_002872	NM_002872		Approved	EN-7	uc003arc.3	uc003arc.3	P15153	P15153	OTTHUMG00000150540	OTTHUMG00000150540	ENST00000249071.6:c.206C>T	22.37:g.37628860G>A	ENSP00000249071:p.Pro69Leu		RAC2_ENST00000405484.1_Missense_Mutation_p.P62L|RAC2_ENST00000406508.1_Missense_Mutation_p.P25L	p.P69L	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN			3	327	-			69		Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.206C>T	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624131	0.87560	.	.	ENSG00000128340	ENST00000249071;ENST00000406508;ENST00000405484;ENST00000441619	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.69	4.69	0.59074	4.69	4.69	0.59074	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87884	0.6290	M	0.93106	3.38	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.91254	0.5031	10	0.87932	D	0	.	17.9764	0.89129	0.0:0.0:1.0:0.0	.	69	P15153	RAC2_HUMAN	L	69;25;62;69	ENSP00000249071:P69L;ENSP00000385270:P25L;ENSP00000385590:P62L;ENSP00000403778:P69L	ENSP00000249071:P69L	P	-	2	0	0	RAC2	35958806	35958806	1.000000	0.71417	0.935000	0.37517	0.847000	0.48162	9.617000	0.98361	2.301000	0.77427	0.462000	0.41574	CCG		0.592	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1		42.078279	12	12	31	31			13	42.163705	42.163705	10	0.565217	0	0	0	1	0	13	10	0.565217	A	37628860	G	A	37628860	3	1	80	1	0	0	0	0	1	0	0	0	12975	1116	39	1	388	1	RAC2	22	37628860	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	464977	37628860	13675706	535	2050											
GGA1	26088	broad.mit.edu	37	22	38013030	38013030	+	Intron	SNP	G	G	A	rs367961742		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:38013030G>A	ENST00000343632.4	+	3	590				GGA1_ENST00000325180.8_Intron|GGA1_ENST00000381756.5_Missense_Mutation_p.R77H|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000414350.3_Missense_Mutation_p.R77H|GGA1_ENST00000405147.3_Intron|GGA1_ENST00000406772.1_Intron	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						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)					GCCACCATCCGTCCCCCGCCA	0.627													A|||	1	0.000199681	8e-04	0	5008	,	,		17786	0		0	False		,,,				2504	0					ENST00000381756.5											0			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(229-231)cGt>cAt	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	A	,HIS/ARG,,,	7,4393		0,7,2193	47	47	47		,230,,,	-3.1	0	22		47	0,8588		0,0,4294	yes	intron,missense,intron,intron,intron	GGA1	NM_001001560.2,NM_001001561.2,NM_001172687.1,NM_001172688.1,NM_013365.4	,29,,,	0,7,6487	AA,AG,GG		0.0,0.1591,0.0539	,,,,	,77/90,,,	38013030	7,12981	2200	4294	6494	SO:0001627	intron_variant	26088			intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38013030G>A	AF190862	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083	ENSG00000100083	ENSG00000100083				17842	17842	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606004	606004						10747088, 10747089, 16407204	10747088, 10747089, 16407204	Standard	Standard	NM_013365	NM_013365		Approved		uc003atc.3	uc003atc.3	Q9UJY5	Q9UJY5	OTTHUMG00000030985	OTTHUMG00000030985	ENST00000343632.4:c.204+26G>A	22.37:g.38013030G>A			GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000406772.1_Intron|GGA1_ENST00000414350.3_Missense_Mutation_p.R77H|GGA1_ENST00000405147.3_Intron	p.R77H			Q9UJY5	GGA1_HUMAN			3	366	+	Melanoma(58;0.0574)		69	VHS.	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.230G>A	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.553170	0.27739	0.001591	0.0	ENSG00000100083	ENST00000414350;ENST00000381756	T	0.18016	2.24	3.72	-3.1	0.05315	3.72	-3.1	0.05315	.	3.014390	0.01323	N	0.010992	T	0.09158	0.0226	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	8	.	.	.	20.4463	4.4418	0.11577	0.2843:0.0:0.4628:0.253	.	77	Q8NCS6	.	H	77	ENSP00000371175:R77H	.	R	+	2	0	0	GGA1	36342976	36342976	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.498000	0.06420	-0.516000	0.06470	-0.939000	0.02691	CGT		0.627	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3		6.451906	-2	-2	9	9	NM_013365		2	6.524597	6.524597	1	0.666667	0	0	0	1	0	2	1	0.666667	A	38013030	G	A	38013030	1	1	80	0	1	0	0	0	0	0	0	0	6352	1145	40	1		1	GGA1	22	38013030	Intron	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	384170	38013030	13291536	536	2051											
PLA2G6	8398	broad.mit.edu	37	22	38531030	38531030	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:38531030C>T	ENST00000332509.3	-	6	1042	c.859G>A	c.(859-861)Gga>Aga	p.G287R	PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R|PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	287					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGCTGGCTCCGTAACGGGGG	0.662																																						ENST00000332509.3											0			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(859-861)Gga>Aga	phospholipase A2, group VI (cytosolic, calcium-independent)						55	56	56					22																	38531030		2203	4300	6503	SO:0001583	missense	8398			cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38531030C>T	AF064594	AF064594	CCDS13967.1, CCDS33645.1	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			2013-01-10			ENSG00000184381	ENSG00000184381	ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	9039	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	"neurodegeneration with brain iron accumulation 2"	603604	603604						9417066, 16799181, 19029121	9417066, 16799181, 19029121	Standard	Standard	NM_001199562	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	uc003aux.1	O60733	O60733	OTTHUMG00000151246	OTTHUMG00000151246	ENST00000332509.3:c.859G>A	22.37:g.38531030C>T	ENSP00000333142:p.Gly287Arg		PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R|PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R	p.G287R	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			6	1042	-	Melanoma(58;0.045)		287		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.859G>A	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821662	0.90873	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461	T;T;T	0.59772	0.24;0.24;0.24	5.67	5.67	0.87782	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.154883	0.64402	D	0.000018	T	0.77980	0.4212	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.70935	0.962;0.884;0.971	T	0.81254	-0.1016	10	0.87932	D	0	-11.6042	15.2807	0.73781	0.0:0.8604:0.1396:0.0	.	252;287;287	B7Z6K3;O60733-2;O60733	.;.;PA2G6_HUMAN	R	287;148;287;287;215;287;252	ENSP00000333142:G287R;ENSP00000335149:G287R;ENSP00000386100:G287R	ENSP00000333142:G287R	G	-	1	0	0	PLA2G6	36860976	36860976	0.994000	0.37717	0.985000	0.45067	0.948000	0.59901	4.085000	0.57657	2.667000	0.90743	0.561000	0.74099	GGA		0.662	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1		31.915636	-11	-11	37	37	NM_001004426		11	32.491534	32.491534	20	0.354839	0	0	0	1	0	11	20	0.354839	T	38531030	C	T	38531030	3	4	80	1	0	0	0	0	1	0	0	0	12008	661	23	1	1609	1	PLA2G6	22	38531030	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	518000	38531030	12773536	537	2052											
PLA2G6	8398	broad.mit.edu	37	22	38539156	38539156	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:38539156C>T	ENST00000332509.3	-	4	748	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	PLA2G6_ENST00000402064.1_Missense_Mutation_p.V189I|PLA2G6_ENST00000335539.3_Missense_Mutation_p.V189I|PLA2G6_ENST00000436218.1_Intron	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	189					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TAATGGAAGACGGTCTCTCCC	0.597																																						ENST00000332509.3											0			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(565-567)Gtc>Atc	phospholipase A2, group VI (cytosolic, calcium-independent)						338	287	304					22																	38539156		2203	4300	6503	SO:0001583	missense	8398			cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38539156C>T	AF064594	AF064594	CCDS13967.1, CCDS33645.1	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			2013-01-10			ENSG00000184381	ENSG00000184381	ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	9039	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	"neurodegeneration with brain iron accumulation 2"	603604	603604						9417066, 16799181, 19029121	9417066, 16799181, 19029121	Standard	Standard	NM_001199562	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	uc003aux.1	O60733	O60733	OTTHUMG00000151246	OTTHUMG00000151246	ENST00000332509.3:c.565G>A	22.37:g.38539156C>T	ENSP00000333142:p.Val189Ile		PLA2G6_ENST00000335539.3_Missense_Mutation_p.V189I|PLA2G6_ENST00000436218.1_Intron|PLA2G6_ENST00000402064.1_Missense_Mutation_p.V189I	p.V189I	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			4	748	-	Melanoma(58;0.045)		189		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.565G>A	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.03|13.03	2.116404|2.116404	0.37339|0.37339	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000427114|ENST00000332509;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000430886	.|T;T;T;T	.|0.64438	.|-0.1;-0.1;-0.1;-0.1	6.03|6.03	6.03|6.03	0.97812|0.97812	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Ankyrin repeat-containing domain (3);	.|0.301152	.|0.38959	.|N	.|0.001506	T|T	0.44307|0.44307	0.1287|0.1287	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	.|B;B	.|0.30526	.|0.283;0.03	.|B;B	.|0.21917	.|0.035;0.037	T|T	0.35475|0.35475	-0.9787|-0.9787	5|10	.|0.29301	.|T	.|0.29	-14.6809|-14.6809	18.7374|18.7374	0.91761|0.91761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|189;189	.|O60733-2;O60733	.|.;PA2G6_HUMAN	H|I	56|189;189;189;117;189;117	.|ENSP00000333142:V189I;ENSP00000335149:V189I;ENSP00000386100:V189I;ENSP00000395464:V117I	.|ENSP00000333142:V189I	R|V	-|-	2|1	0|0	0|0	PLA2G6|PLA2G6	36869102|36869102	36869102|36869102	1.000000|1.000000	0.71417|0.71417	0.929000|0.929000	0.37066|0.37066	0.772000|0.772000	0.43724|0.43724	4.365000|4.365000	0.59486|0.59486	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.597	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1		130.395707	-5	-5	285	285	NM_001004426		50	140.356003	140.356003	142	0.260417	0	0	0	1	0	50	142	0.260417	T	38539156	C	T	38539156	3	4	80	1	0	0	0	0	1	0	0	0	12008	536	19	1	1911	1	PLA2G6	22	38539156	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8126	38539156	12765410	538	2053											
L3MBTL2	83746	broad.mit.edu	37	22	41621887	41621887	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:41621887C>T	ENST00000216237.5	+	12	1604	c.1446C>T	c.(1444-1446)caC>caT	p.H482H		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	482					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTCTTCCCACGCCATCTTCC	0.572																																						ENST00000216237.5											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1444-1446)caC>caT	l(3)mbt-like 2 (Drosophila)						115	81	93					22																	41621887		2203	4300	6503	SO:0001819	synonymous_variant	83746			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41621887C>T	AJ305226	AJ305226	CCDS14011.1	CCDS14011.1	22q13.31-q13.33	2008-06-11			2008-06-11			ENSG00000100395	ENSG00000100395	ENSG00000100395	ENSG00000100395				18594	18594	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611865	611865						11682070	11682070	Standard	Standard	NM_031488	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	uc003azo.3	Q969R5	Q969R5	OTTHUMG00000150942	OTTHUMG00000150942	ENST00000216237.5:c.1446C>T	22.37:g.41621887C>T				p.H482H	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			12	1604	+			482		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.1446C>T	CCDS14011.1																																																																																									0.572	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1		36.654436	5	5	54	54	NM_031488		13	37.269803	37.269803	23	0.361111	0	0	0	1	0	13	23	0.361111	T	41621887	C	T	41621887	2	4	80	1	0	0	0	0	0	0	0	1	8592	535	19	1		1	L3MBTL2	22	41621887	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3082731	41621887	9682679	539	2054											
CELSR1	9620	broad.mit.edu	37	22	46859996	46859996	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:46859996G>A	ENST00000262738.3	-	2	3790	c.3791C>T	c.(3790-3792)gCg>gTg	p.A1264V	CELSR1_ENST00000395964.1_Missense_Mutation_p.A1264V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1264					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)		AGGCAGCAGCGCCGAGAAGGT	0.632																																						ENST00000262738.3											0			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						c.(3790-3792)gCg>gTg	cadherin, EGF LAG seven-pass G-type receptor 1						75	76	76					22																	46859996		2203	4300	6503	SO:0001583	missense	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.chr22:46859996G>A	AF231024	AF231024	CCDS14076.1	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275	ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	1850	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	"flamingo homolog 2 (Drosophila)"	604523	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"		"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	9339365	Standard	Standard	XM_006724383	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	uc003bhw.1	Q9NYQ6	Q9NYQ6	OTTHUMG00000150423	OTTHUMG00000150423	ENST00000262738.3:c.3791C>T	22.37:g.46859996G>A	ENSP00000262738:p.Ala1264Val		CELSR1_ENST00000395964.1_Missense_Mutation_p.A1264V	p.A1264V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	3790	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1264		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3791C>T	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.92|17.92	3.506505|3.506505	0.64410|0.64410	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.68765|.	-0.35;-0.09|.	4.85|4.85	4.85|4.85	0.62838|0.62838	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|T	0.57080|0.57080	0.2029|0.2029	L|L	0.31207|0.31207	0.915|0.915	0.46336|0.46336	D|D	0.998996|0.998996	P|.	0.50156|.	0.932|.	P|.	0.45377|.	0.478|.	T|T	0.53704|0.53704	-0.8401|-0.8401	10|5	0.12766|.	T|.	0.61|.	.|.	17.5878|17.5878	0.87987|0.87987	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1264|.	Q9NYQ6|.	CELR1_HUMAN|.	V|C	1264|639	ENSP00000262738:A1264V;ENSP00000379293:A1264V|.	ENSP00000262738:A1264V|.	A|R	-|-	2|1	0|0	0|0	CELSR1|CELSR1	45238660|45238660	45238660|45238660	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.989000|0.989000	0.77384|0.77384	5.062000|5.062000	0.64326|0.64326	2.239000|2.239000	0.73571|0.73571	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		0.629630	10	10	89	89	NM_014246		5	10.432978	10.432978	52	0.087719	0	0	0	1	0	5	52	0.087719	A	46859996	G	A	46859996	3	1	80	1	0	0	0	0	1	0	0	0	3221	1087	38	1	5389	1	CELSR1	22	46859996	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5238109	46859996	4444570	540	2055											
MLC1	23209	broad.mit.edu	37	22	50515862	50515862	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:50515862G>A	ENST00000311597.5	-	6	1099	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	MLC1_ENST00000538737.1_Missense_Mutation_p.R131W|MLC1_ENST00000395876.2_Missense_Mutation_p.R165W|MLC1_ENST00000535444.1_Missense_Mutation_p.R86W|MLC1_ENST00000431262.2_Missense_Mutation_p.R135W|MLC1_ENST00000450140.2_Missense_Mutation_p.R113W	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	165					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCGCTGGACCGTGCAGCGATG	0.632																																						ENST00000311597.5											0			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(493-495)Cgg>Tgg	megalencephalic leukoencephalopathy with subcortical cysts 1						77	59	65					22																	50515862		2203	4300	6503	SO:0001583	missense	23209				basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50515862G>A	D25217	D25217	CCDS14083.1	CCDS14083.1	22q13.33	2007-03-20			2007-03-20			ENSG00000100427	ENSG00000100427	ENSG00000100427	ENSG00000100427				17082	17082	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605908	605908						7584026, 7584028	7584026, 7584028	Standard	Standard	XR_430476	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	uc003bjg.1	Q15049	Q15049	OTTHUMG00000150236	OTTHUMG00000150236	ENST00000311597.5:c.493C>T	22.37:g.50515862G>A	ENSP00000310375:p.Arg165Trp		MLC1_ENST00000431262.2_Missense_Mutation_p.R135W|MLC1_ENST00000535444.1_Missense_Mutation_p.R86W|MLC1_ENST00000450140.2_Missense_Mutation_p.R113W|MLC1_ENST00000538737.1_Missense_Mutation_p.R131W|MLC1_ENST00000395876.2_Missense_Mutation_p.R165W	p.R165W	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	6	1099	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	165		B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	c.493C>T	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906176	0.52333	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140;ENST00000442311	D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.38	3.22	0.36961	4.38	3.22	0.36961	.	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.996;0.997	D	0.90994	0.4837	10	0.87932	D	0	-5.6194	8.6789	0.34196	0.0:0.0:0.6515:0.3485	.	131;135;113;165	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	W	165;165;131;135;86;113;135	ENSP00000379216:R165W;ENSP00000310375:R165W;ENSP00000445805:R131W;ENSP00000415877:R135W;ENSP00000438910:R86W;ENSP00000412448:R113W;ENSP00000401385:R135W	ENSP00000310375:R165W	R	-	1	2	2	MLC1	48857989	48857989	0.998000	0.40836	0.895000	0.35142	0.247000	0.25773	2.843000	0.48238	2.124000	0.65301	0.655000	0.94253	CGG		0.632	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2		54.173046	-5	-5	55	55	NM_015166		17	54.225771	54.225771	20	0.459459	0	0	0	1	0	17	20	0.459459	A	50515862	G	A	50515862	3	1	80	1	0	0	0	0	1	0	0	0	9612	1144	40	1	668	1	MLC1	22	50515862	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3655866	50515862	788704	541	2056											
SAPS2	9701	broad.mit.edu	37	22	50861960	50861960	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:50861960C>T	ENST00000216061.5	+	11	1412	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	PPP6R2_ENST00000359139.3_Missense_Mutation_p.R348C|PPP6R2_ENST00000395741.3_Missense_Mutation_p.R349C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R348C			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	348						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GCATGGCGCCCGCCTCATGGC	0.597																																						ENST00000359139.3											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1042-1044)Cgc>Tgc	protein phosphatase 6, regulatory subunit 2						103	85	91					22																	50861960		2203	4300	6503	SO:0001583	missense	9701				cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50861960C>T	AB014585	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	19253	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610877	610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	16769727	Standard	Standard	NM_014678	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	uc003blc.3	O75170	O75170	OTTHUMG00000150199	OTTHUMG00000150199	ENST00000216061.5:c.1042C>T	22.37:g.50861960C>T	ENSP00000216061:p.Arg348Cys		PPP6R2_ENST00000395741.3_Missense_Mutation_p.R349C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R348C|PPP6R2_ENST00000216061.5_Missense_Mutation_p.R348C	p.R348C	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			10	1436	+			348		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.1042C>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.971290	0.74246	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.102883	0.64402	D	0.000004	T	0.59514	0.2199	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.984;0.991;0.977;0.984;0.977	T	0.63274	-0.6674	10	0.87932	D	0	-32.374	17.2603	0.87068	0.0:1.0:0.0:0.0	.	348;348;349;348;348	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	C	348;349;348;348	ENSP00000352051:R348C;ENSP00000379090:R349C;ENSP00000379093:R348C;ENSP00000216061:R348C	ENSP00000216061:R348C	R	+	1	0	0	PPP6R2	49208826	49208826	0.899000	0.30636	1.000000	0.80357	0.987000	0.75469	1.752000	0.38349	2.685000	0.91497	0.591000	0.81541	CGC		0.597	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1		15.537655	-10	-10	51	51	NM_014678		7	19.065403	19.065403	31	0.184211	0	0	0	1	0	7	31	0.184211	T	50861960	C	T	50861960	3	4	80	1	0	0	0	0	1	0	0	0	13837	652	23	1	1072	1	SAPS2	22	50861960	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	346098	50861960	442606	542	2057											
SBF1	6305	broad.mit.edu	37	22	50899059	50899059	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:50899059G>A	ENST00000390679.3	-	24	3234	c.3050C>T	c.(3049-3051)cCg>cTg	p.P1017L	SBF1_ENST00000380817.3_Missense_Mutation_p.P1017L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1018L			O95248	MTMR5_HUMAN	SET binding factor 1	1017					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GATGTCCGGCGGGTACCGCAG	0.602																																						ENST00000380817.3											0			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3049-3051)cCg>cTg	SET binding factor 1						91	99	96					22																	50899059		2053	4186	6239	SO:0001583	missense	6305			protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50899059G>A	U93181	U93181	CCDS14091.1, CCDS14091.2	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			2013-01-10			ENSG00000100241	ENSG00000100241	ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	10542	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560	603560						9537414, 9736772	9537414, 9736772	Standard	Standard	NM_002972	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	uc003blh.3	O95248	O95248	OTTHUMG00000150204	OTTHUMG00000150204	ENST00000390679.3:c.3050C>T	22.37:g.50899059G>A	ENSP00000375097:p.Pro1017Leu		SBF1_ENST00000390679.3_Missense_Mutation_p.P1017L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1018L	p.P1017L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	24	3233	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3050C>T		.	.	.	.	.	.	.	.	.	.	G	15.91	2.973524	0.53720	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.89415	-2.51;-2.51;-2.51	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.061206	0.64402	D	0.000003	D	0.94248	0.8153	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.935;0.999	D	0.95181	0.8299	10	0.87932	D	0	.	16.711	0.85385	0.0:0.0:1.0:0.0	.	1017;1017	O95248;O95248-4	MTMR5_HUMAN;.	L	1017;1018;1027;1017	ENSP00000370196:P1017L;ENSP00000252027:P1018L;ENSP00000375097:P1017L	ENSP00000336522:P1027L	P	-	2	0	0	SBF1	49245925	49245925	1.000000	0.71417	0.899000	0.35326	0.199000	0.23934	6.301000	0.72782	2.027000	0.59764	0.467000	0.42956	CCG		0.602	SBF1-201	KNOWN	basic	protein_coding	protein_coding			48.525240	-7	-7	144	144			18	52.608843	52.608843	54	0.25	0	0	0	1	0	18	54	0.25	A	50899059	G	A	50899059	3	1	80	1	0	0	0	0	1	0	0	0	13858	1116	39	1	2703	1	SBF1	22	50899059	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	37099	50899059	405507	543	2058											
CSF2RA	1438	broad.mit.edu	37	X	1413315	1413315	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:1413315G>A	ENST00000381524.3	+	8	927	c.741G>A	c.(739-741)tcG>tcA	p.S247S	BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000501036.2_Silent_p.S114S|CSF2RA_ENST00000417535.2_Silent_p.S247S|CSF2RA_ENST00000381509.3_Silent_p.S247S|CSF2RA_ENST00000432318.2_Silent_p.S247S|CSF2RA_ENST00000361536.3_Silent_p.S247S|CSF2RA_ENST00000381529.3_Silent_p.S247S|BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA|CSF2RA_ENST00000498153.1_3'UTR|MIR3690_ENST00000580266.1_RNA|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000355432.3_Silent_p.S247S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Silent_p.S247S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	247	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.S247S(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGAAGCTGTCGTACCTGGACT	0.597																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(739-741)tcG>tcA	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						283	226	245					X																	1413315		2203	4296	6499	SO:0001819	synonymous_variant	0				extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1413315G>A	M64445	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			2014-09-17			ENSG00000198223	ENSG00000198223	ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	"CD molecules", "Pseudoautosomal regions / PAR1"	2435	2435	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			306250, 425000	306250, 425000		CSF2R		CSF2R		1702217	1702217	Standard	Standard	NM_006140	NM_006140		Approved	CD116	uc010ncv.2	uc010ncv.2	P15509	P15509	OTTHUMG00000012533	OTTHUMG00000012533	ENST00000381524.3:c.741G>A	X.37:g.1413315G>A			CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Silent_p.S247S|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381529.3_Silent_p.S247S|CSF2RA_ENST00000355432.3_Silent_p.S247S|CSF2RA_ENST00000501036.2_Silent_p.S114S|CSF2RA_ENST00000381500.1_Silent_p.S247S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_Silent_p.S247S|CSF2RA_ENST00000417535.2_Silent_p.S247S|CSF2RA_ENST00000361536.3_Silent_p.S247S	p.S247S			P15509	CSF2R_HUMAN			8	927	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	247		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.741G>A	CCDS35191.1																																																																																									0.597	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		25.760506	-17	-17	69	69			12	32.037317	32.037317	54	0.181818	0	0	0	1	0	12	54	0.181818	A	1413315	G	A	1413315	2	1	80	1	0	0	0	0	0	0	0	1	3934	1132	40	1		1	CSF2RA	23	1413315	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		1413315	153857245	544	2059											
ASMTL	8623	broad.mit.edu	37	X	1546804	1546804	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:1546804G>A	ENST00000381317.3	-	7	752	c.720C>T	c.(718-720)gaC>gaT	p.D240D	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000534940.1_Silent_p.D182D|ASMTL_ENST00000381333.4_Silent_p.D224D|ASMTL_ENST00000416733.2_Silent_p.D164D	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	240						cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCCCTCCACGTCACTGAGGT	0.697													g|||	1	0.000199681	8e-04	0	5008	,	,		14700	0		0	False		,,,				2504	0					ENST00000534940.1											0			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23						c.(544-546)gaC>gaT	acetylserotonin O-methyltransferase-like	G	,,	1,4031		0,1,2015	47	60	56		546,672,720	-0.2	0	X		56	0,8262		0,0,4131	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	0,1,6146	AA,AG,GG		0.0,0.0248,0.0081	,,	182/564,224/606,240/622	1546804	1,12293	2016	4131	6147	SO:0001819	synonymous_variant	8623			melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1546804G>A	Y15521	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			2008-02-05			ENSG00000169093	ENSG00000169093	ENSG00000169093	ENSG00000169093		"Pseudoautosomal regions / PAR1"	"Pseudoautosomal regions / PAR1"	751	751	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300162, 400011	300162, 400011						9736779	9736779	Standard	Standard	NM_004192	NM_004192		Approved		uc004cpx.2	uc004cpx.2	O95671	O95671	OTTHUMG00000021057	OTTHUMG00000021057	ENST00000381317.3:c.720C>T	X.37:g.1546804G>A			ASMTL_ENST00000381333.4_Silent_p.D224D|ASMTL_ENST00000381317.3_Silent_p.D240D|ASMTL_ENST00000416733.2_Silent_p.D164D|ASMTL_ENST00000463763.1_5'UTR	p.D182D	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN			7	771	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	240	MAF-like.	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	c.546C>T	CCDS43917.1																																																																																									0.697	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1		-3.515046	-34	-34	42	42	NM_004192		3	6.605552	6.605552	47	0.06	0	0	0	1	0	3	47	0.06	A	1546804	G	A	1546804	2	1	80	1	0	0	0	0	0	0	0	1	1046	1136	40	1		1	ASMTL	23	1546804	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	133489	1546804	153723756	545	2060											
ARSF	416	broad.mit.edu	37	X	3002384	3002384	+	Silent	SNP	C	C	T	rs141924849	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:3002384C>T	ENST00000381127.1	+	6	728	c.507C>T	c.(505-507)ctC>ctT	p.L169L	ARSF_ENST00000359361.2_Silent_p.L169L|ARSF_ENST00000537104.1_Silent_p.L169L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	169					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTTCACTCTCGTTGACAGCT	0.532													t|||	19	0.00503311	0	0	3775	,	,		14369	0		0	False		,,,				2504	0.0194					ENST00000381127.1											0			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(505-507)ctC>ctT	arylsulfatase F	C	,,	0,3835		0,0,0,1632,571	146	111	123		507,507,507	-6.9	0	X	dbSNP_134	123	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous	ARSF	NM_001201538.1,NM_001201539.1,NM_004042.4	,,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,,	169/591,169/591,169/591	3002384	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	416				extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002384C>T	X97868	X97868	CCDS14123.1	CCDS14123.1	Xp22.3	2013-02-14			2013-02-14			ENSG00000062096	ENSG00000062096	ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	"Arylsulfatase family"	721	721	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300003	300003						7720070	7720070	Standard	Standard	NM_004042	NM_004042		Approved		uc022brz.1	uc022brz.1	P54793	P54793	OTTHUMG00000021081	OTTHUMG00000021081	ENST00000381127.1:c.507C>T	X.37:g.3002384C>T			ARSF_ENST00000359361.2_Silent_p.L169L|ARSF_ENST00000537104.1_Silent_p.L169L	p.L169L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	728	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	169		Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.507C>T	CCDS14123.1																																																																																									0.532	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		96.519665	0	0	77	77			31	96.63462	96.63462	37	0.455882	0	0	0	1	0	31	37	0.455882	T	3002384	C	T	3002384	2	4	80	1	0	0	0	0	0	0	0	1	991	871	31	1		1	ARSF	23	3002384	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1455580	3002384	152268176	546	2061											
ASB11	140456	broad.mit.edu	37	X	15306030	15306030	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:15306030C>T	ENST00000480796.1	-	6	870	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	ASB11_ENST00000537676.1_Missense_Mutation_p.V253M|ASB11_ENST00000380470.3_Missense_Mutation_p.V257M|ASB11_ENST00000344384.4_Missense_Mutation_p.V253M			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	274	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GCCTGCTCCACGCTGCTTTTT	0.522																																						ENST00000537676.1											0			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16						c.(757-759)Gtg>Atg	ankyrin repeat and SOCS box containing 11						99	77	85					X																	15306030		2203	4300	6503	SO:0001583	missense	0			intracellular signal transduction			g.chrX:15306030C>T	AF425642	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192	ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	"Ankyrin repeat domain containing"	17186	17186	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300626	300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"		"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	24337577	Standard	Standard	NM_080873	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	uc004cwp.2	Q8WXH4	Q8WXH4	OTTHUMG00000021173	OTTHUMG00000021173	ENST00000480796.1:c.820G>A	X.37:g.15306030C>T	ENSP00000417914:p.Val274Met		ASB11_ENST00000344384.4_Missense_Mutation_p.V253M|ASB11_ENST00000480796.1_Missense_Mutation_p.V274M|ASB11_ENST00000380470.3_Missense_Mutation_p.V257M	p.V253M			Q8WXH4	ASB11_HUMAN			6	829	-	Hepatocellular(33;0.183)		274		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.757G>A	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606762	0.66558	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.44	3.68	0.42216	5.44	3.68	0.42216	SOCS protein, C-terminal (1);Ankyrin repeat-containing domain (4);	0.195013	0.35970	N	0.002868	T	0.73009	0.3532	L	0.43757	1.38	0.42153	D	0.99156	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.981;0.999;0.999	T	0.70171	-0.4945	10	0.42905	T	0.14	-2.7402	10.2954	0.43620	0.0:0.8372:0.0:0.1628	.	257;274;253	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	M	253;257;253;274	ENSP00000445465:V253M;ENSP00000369837:V257M;ENSP00000343408:V253M;ENSP00000417914:V274M	ENSP00000343408:V253M	V	-	1	0	0	ASB11	15215951	15215951	0.975000	0.34042	0.294000	0.24946	0.937000	0.57800	2.446000	0.44908	0.506000	0.28125	0.523000	0.50628	GTG		0.522	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2		10.722547	-7	-7	66	66			6	15.651433	15.651433	35	0.146341	0	0	0	1	0	6	35	0.146341	T	15306030	C	T	15306030	3	4	80	1	0	0	0	0	1	0	0	0	1015	536	19	1	159	1	ASB11	23	15306030	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12303646	15306030	139964530	547	2062											
PPEF1	5475	broad.mit.edu	37	X	18775810	18775810	+	Silent	SNP	G	G	A	rs143899775		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:18775810G>A	ENST00000361511.4	+	8	956	c.462G>A	c.(460-462)ccG>ccA	p.P154P	PPEF1_ENST00000544635.1_Silent_p.P89P|PPEF1_ENST00000359763.6_Silent_p.P101P|PPEF1_ENST00000543630.1_Silent_p.P154P|PPEF1_ENST00000349874.5_Silent_p.P154P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	154	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGCAAATGCCGAATTTCACTC	0.413													G|||	3	0.000794702	0.0023	0	3775	,	,		13880	0		0	False		,,,				2504	0					ENST00000361511.4											0			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(460-462)ccG>ccA	protein phosphatase, EF-hand calcium binding domain 1	G	,,	3,3832		0,3,1629,571	214	200	205		462,462,462	-7.4	0.1	X	dbSNP_134	205	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	PPEF1	NM_006240.2,NM_152224.1,NM_152226.1	,,	0,3,4057,2443	AA,AG,GG,G		0.0,0.0782,0.0284	,,	154/654,154/626,154/592	18775810	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	5475			detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18775810G>A	BC036026	BC036026	CCDS14188.1, CCDS43920.1	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			2013-01-10			ENSG00000086717	ENSG00000086717	ENSG00000086717	ENSG00000086717		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9243	9243	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, alpha isozyme"	"protein phosphatase 7, catalytic subunit, alpha isozyme"	300109	300109		PPEF		PPEF		9215685, 9326663	9215685, 9326663	Standard	Standard	NM_152224	NM_152224		Approved	PPP7CA	uc004cyq.3	uc004cyq.3	O14829	O14829	OTTHUMG00000021219	OTTHUMG00000021219	ENST00000361511.4:c.462G>A	X.37:g.18775810G>A			PPEF1_ENST00000359763.6_Silent_p.P101P|PPEF1_ENST00000543630.1_Silent_p.P154P|PPEF1_ENST00000349874.5_Silent_p.P154P|PPEF1_ENST00000544635.1_Silent_p.P89P	p.P154P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			8	956	+	Hepatocellular(33;0.183)		154	Catalytic.	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.462G>A	CCDS14188.1																																																																																									0.413	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3		279.553652	1	1	224	224	NM_006240		89	280.223204	280.223204	114	0.438424	0	0	0	1	0	89	114	0.438424	A	18775810	G	A	18775810	2	1	80	1	0	0	0	0	0	0	0	1	12307	1045	37	1		1	PPEF1	23	18775810	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3469780	18775810	136494750	548	2063											
PHKA2	5256	broad.mit.edu	37	X	18944633	18944633	+	Missense_Mutation	SNP	G	G	A	rs191267737		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:18944633G>A	ENST00000379942.4	-	14	2062	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	466					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ATGAATGTCCGCGATACTCTG	0.458													G|||	1	0.000264901	0	0	3775	,	,		15190	0.001		0	False		,,,				2504	0					ENST00000379942.4											0			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(1396-1398)gCg>gTg	phosphorylase kinase, alpha 2 (liver)						175	138	150					X																	18944633		2203	4300	6503	SO:0001583	missense	5256			glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18944633G>A			CCDS14190.1	CCDS14190.1	Xp22.2-p22.1	2009-07-10			2009-07-10			ENSG00000044446	ENSG00000044446	ENSG00000044446	ENSG00000044446	2.7.11.19			8926	8926	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300798	300798		PHK, PYK		PHK, PYK		2387090	2387090	Standard	Standard	NM_000292	NM_000292		Approved		uc004cyv.4	uc004cyv.4	P46019	P46019	OTTHUMG00000021222	OTTHUMG00000021222	ENST00000379942.4:c.1397C>T	X.37:g.18944633G>A	ENSP00000369274:p.Ala466Val			p.A466V	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			14	2062	-	Hepatocellular(33;0.183)		466		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.1397C>T	CCDS14190.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.32	3.091165	0.55968	.	.	ENSG00000044446	ENST00000379942	D	0.91180	-2.8	5.38	5.38	0.77491	5.38	5.38	0.77491	Glycoside hydrolase 15-related (1);	0.207947	0.51477	D	0.000087	D	0.89298	0.6675	M	0.80982	2.52	0.54753	D	0.999983	P	0.37233	0.588	B	0.30572	0.117	D	0.89015	0.3431	10	0.41790	T	0.15	-14.0755	13.7211	0.62728	0.0:0.1504:0.8496:0.0	.	466	P46019	KPB2_HUMAN	V	466	ENSP00000369274:A466V	ENSP00000369274:A466V	A	-	2	0	0	PHKA2	18854554	18854554	1.000000	0.71417	0.887000	0.34795	0.469000	0.32828	7.271000	0.78506	2.383000	0.81215	0.600000	0.82982	GCG		0.458	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1		12.117081	-20	-20	154	154	NM_000292		12	29.268562	29.268562	100	0.107143	0	0	0	1	0	12	100	0.107143	A	18944633	G	A	18944633	3	1	80	1	0	0	0	0	1	0	0	0	11844	1087	38	1	2390	1	PHKA2	23	18944633	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	168823	18944633	136325927	549	2064											
MAP7D2	256714	broad.mit.edu	37	X	20081643	20081643	+	Silent	SNP	G	G	A	rs184432892		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:20081643G>A	ENST00000379651.3	-	3	279	c.261C>T	c.(259-261)taC>taT	p.Y87Y	MAP7D2_ENST00000379643.5_Silent_p.Y87Y|MAP7D2_ENST00000443379.3_Silent_p.Y87Y|MAP7D2_ENST00000452324.3_Silent_p.Y43Y	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	87					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TTTGCTTTTCGTACTGCAGCC	0.527													G|||	1	0.000264901	0	0	3775	,	,		16090	0		0.001	False		,,,				2504	0					ENST00000379651.3											0			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(259-261)taC>taT	MAP7 domain containing 2	G	,,,	0,3835		0,0,1632,571	141	113	123		261,261,129,261	-0.6	1	X		123	2,6726		0,2,2426,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAP7D2	NM_001168465.1,NM_001168466.1,NM_001168467.1,NM_152780.3	,,,	0,2,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189	,,,	87/774,87/688,43/681,87/733	20081643	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	256714						g.chrX:20081643G>A	BC089400	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			2008-02-05			ENSG00000184368	ENSG00000184368	ENSG00000184368	ENSG00000184368				25899	25899	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_152780	NM_152780		Approved	FLJ14503	uc010nfo.2	uc010nfo.2	Q96T17	Q96T17	OTTHUMG00000021228	OTTHUMG00000021228	ENST00000379651.3:c.261C>T	X.37:g.20081643G>A			MAP7D2_ENST00000452324.3_Silent_p.Y43Y|MAP7D2_ENST00000379643.5_Silent_p.Y87Y|MAP7D2_ENST00000443379.3_Silent_p.Y87Y	p.Y87Y	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			3	279	-			87		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.261C>T	CCDS14195.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.18	1.278199	0.23307	0.0	2.97E-4	ENSG00000184368	ENST00000544957	.	.	.	5.87	-0.59	0.11679	5.87	-0.59	0.11679	.	.	.	.	.	T	0.58148	0.2102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53019	-0.8497	4	.	.	.	-13.6087	11.2743	0.49157	0.5151:0.0:0.4849:0.0	.	.	.	.	M	36	.	.	T	-	2	0	0	MAP7D2	19991564	19991564	0.638000	0.27225	0.996000	0.52242	0.989000	0.77384	-0.198000	0.09505	-0.262000	0.09392	0.594000	0.82650	ACG		0.527	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1		143.569263	-16	-16	129	129	NM_152780		45	143.650684	143.650684	51	0.46875	0	0	0	1	0	45	51	0.46875	A	20081643	G	A	20081643	2	1	80	1	0	0	0	0	0	0	0	1	9268	1140	40	1		1	MAP7D2	23	20081643	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1137010	20081643	135188917	550	2065											
MBTPS2	51360	broad.mit.edu	37	X	21886609	21886609	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:21886609C>T	ENST00000379484.5	+	6	794	c.695C>T	c.(694-696)gCa>gTa	p.A232V	MBTPS2_ENST00000365779.2_Missense_Mutation_p.A232V	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	232					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TTTGTCCTTGCACTCTTGGGT	0.433																																						ENST00000365779.2											0			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(694-696)gCa>gTa	membrane-bound transcription factor peptidase, site 2						348	321	330					X																	21886609		2203	4300	6503	SO:0001583	missense	51360			cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21886609C>T	AF019612	AF019612	CCDS14201.1	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174	ENSG00000012174	ENSG00000012174				15455	15455	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300294	300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	9847074, 9659902, 20672378	Standard	Standard	NM_015884	NM_015884		Approved	S2P	uc004dae.3	uc004dae.3	O43462	O43462	OTTHUMG00000021237	OTTHUMG00000021237	ENST00000379484.5:c.695C>T	X.37:g.21886609C>T	ENSP00000368798:p.Ala232Val		MBTPS2_ENST00000379484.5_Missense_Mutation_p.A232V	p.A232V			O43462	MBTP2_HUMAN			6	776	+			232		Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.695C>T	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.677965	0.47886	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.94576	-3.46;-3.46	5.78	4.91	0.64330	5.78	4.91	0.64330	Peptidase M50 (1);	0.101073	0.64402	D	0.000002	D	0.91513	0.7320	L	0.49640	1.575	0.40838	D	0.983649	B;B	0.27932	0.062;0.194	B;B	0.26202	0.023;0.067	D	0.89855	0.4012	10	0.45353	T	0.12	-18.5893	12.1482	0.54036	0.0:0.5354:0.4646:0.0	.	232;232	O43462;B9ZVQ3	MBTP2_HUMAN;.	V	232	ENSP00000368798:A232V;ENSP00000368796:A232V	ENSP00000368796:A232V	A	+	2	0	0	MBTPS2	21796530	21796530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.020000	0.64066	2.433000	0.82419	0.544000	0.68410	GCA		0.433	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1		-25.587769	-65	-65	256	256			6	11.181034	11.181034	153	0.037736	0	0	0	1	0	6	153	0.037736	T	21886609	C	T	21886609	3	4	80	1	0	0	0	0	1	0	0	0	9362	710	25	2	717	2	MBTPS2	23	21886609	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1804966	21886609	133383951	551	2066											
NYX	60506	broad.mit.edu	37	X	41333540	41333540	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:41333540C>T	ENST00000342595.2	+	2	1290	c.834C>T	c.(832-834)gcC>gcT	p.A278A	NYX_ENST00000378220.1_Silent_p.A278A	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	278					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTGACCTGGCCGAGCTCGAGC	0.711																																						ENST00000342595.2											0			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						c.(832-834)gcC>gcT	nyctalopin						22	22	22					X																	41333540		2200	4293	6493	SO:0001819	synonymous_variant	60506			response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333540C>T	AF254868	AF254868	CCDS14256.1	CCDS14256.1	Xp11.4	2014-01-28			2014-01-28			ENSG00000188937	ENSG00000188937	ENSG00000188937	ENSG00000188937				8082	8082	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300278	300278		CSNB1, CSNB4		CSNB1, CSNB4		11062471, 11062472	11062471, 11062472	Standard	Standard	NM_022567	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	uc004dfh.2	Q9GZU5	Q9GZU5	OTTHUMG00000021370	OTTHUMG00000021370	ENST00000342595.2:c.834C>T	X.37:g.41333540C>T			NYX_ENST00000378220.1_Silent_p.A278A	p.A278A	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN			2	1290	+			278		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	ENST00000342595.2	37	c.834C>T	CCDS14256.1																																																																																									0.711	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1		18.617040	-11	-11	24	24	NM_022567		7	19.703308	19.703308	18	0.28	0	0	0	1	0	7	18	0.28	T	41333540	C	T	41333540	2	4	80	1	0	0	0	0	0	0	0	1	10797	639	23	1		1	NYX	23	41333540	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	19446931	41333540	113937020	552	2067											
MAOB	4129	broad.mit.edu	37	X	43702951	43702951	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:43702951G>A	ENST00000378069.4	-	2	253	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000538942.1_Missense_Mutation_p.R20W|MAOB_ENST00000536181.1_Missense_Mutation_p.R20W	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	36	Arg/Lys-rich (basic).				negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	ACACGGTCCCGGGCTTCCAGA	0.483																																						ENST00000378069.4											0			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.(106-108)Cgg>Tgg	monoamine oxidase B						91	76	81					X																	43702951		2203	4300	6503	SO:0001583	missense	4129			xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43702951G>A			CCDS14261.1	CCDS14261.1	Xp11.4-p11.3	2008-02-05			2008-02-05			ENSG00000069535	ENSG00000069535	ENSG00000069535	ENSG00000069535	1.4.3.4			6834	6834	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			309860	309860								Standard	Standard	NM_000898	NM_000898		Approved		uc004dfz.4	uc004dfz.4	P27338	P27338	OTTHUMG00000021388	OTTHUMG00000021388	ENST00000378069.4:c.106C>T	X.37:g.43702951G>A	ENSP00000367309:p.Arg36Trp		MAOB_ENST00000536181.1_Missense_Mutation_p.R20W|MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000538942.1_Missense_Mutation_p.R20W	p.R36W	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN			2	253	-			36	Arg/Lys-rich (basic).	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.106C>T	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105717	0.77096	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.94828	-3.53;-3.53;-3.53	5.54	4.65	0.58169	5.54	4.65	0.58169	Amine oxidase (1);	0.164390	0.53938	D	0.000057	D	0.97717	0.9251	H	0.96080	3.765	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.97717	1.0194	10	0.87932	D	0	-17.0957	7.9123	0.29798	0.0801:0.0:0.6339:0.286	.	20;36;36	B7Z5H3;Q8TBI1;P27338	.;.;AOFB_HUMAN	W	36;20;20	ENSP00000367309:R36W;ENSP00000441613:R20W;ENSP00000442240:R20W	ENSP00000367309:R36W	R	-	1	2	2	MAOB	43587895	43587895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.899000	0.48679	2.318000	0.78349	0.600000	0.82982	CGG		0.483	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1		31.980307	-12	-12	68	68	NM_000898		12	35.061463	35.061463	38	0.24	0	0	0	1	0	12	38	0.24	A	43702951	G	A	43702951	3	1	80	1	0	0	0	0	1	0	0	0	9226	1115	39	1	1512	1	MAOB	23	43702951	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2369411	43702951	111567609	553	2068											
CFP	5199	broad.mit.edu	37	X	47485874	47485874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:47485874G>A	ENST00000396992.3	-	7	1105	c.985C>T	c.(985-987)Cga>Tga	p.R329*	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Nonsense_Mutation_p.R329*|CFP_ENST00000377005.2_Nonsense_Mutation_p.R329*	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	329	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATGTTCCGTCGGATACAGGGG	0.612																																						ENST00000247153.3											0			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(985-987)Cga>Tga	complement factor properdin						51	41	45					X																	47485874		2203	4300	6503	SO:0001587	stop_gained	5199			complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47485874G>A	M83652	M83652	CCDS14282.1	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759	ENSG00000126759	ENSG00000126759		"Complement system"	"Complement system"	8864	8864	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300383	300383	"properdin P factor, complement"	PFC	"properdin P factor, complement"	PFC		1783405	1783405	Standard	Standard	NM_001145252	NM_001145252		Approved		uc004dih.3	uc004dih.3	P27918	P27918	OTTHUMG00000021451	OTTHUMG00000021451	ENST00000396992.3:c.985C>T	X.37:g.47485874G>A	ENSP00000380189:p.Arg329*		CFP_ENST00000396992.3_Nonsense_Mutation_p.R329*|CFP_ENST00000377005.2_Nonsense_Mutation_p.R329*	p.R329*	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			8	1226	-			329	TSP type-1 5.	O15134|O15135|O15136|O75826	Nonsense_Mutation	SNP	ENST00000396992.3	37	c.985C>T	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914217	0.72983	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.279906	0.35708	N	0.003022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4259	0.61026	0.0:0.0:1.0:0.0	.	.	.	.	X	329	.	ENSP00000247153:R329X	R	-	1	2	2	CFP	47370818	47370818	0.962000	0.33011	0.230000	0.23976	0.015000	0.08874	3.938000	0.56583	2.324000	0.78689	0.468000	0.43344	CGA		0.612	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2		21.981094	-16	-16	36	36	NM_002621		8	22.246494	22.246494	13	0.380952	0	0	0	1	0	8	13	0.380952	A	47485874	G	A	47485874	4	1	80	1	0	0	0	0	0	1	0	0	3293	1124	39	1	436	1	CFP	23	47485874	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3782923	47485874	107784686	554	2069											
HUWE1	10075	broad.mit.edu	37	X	53602625	53602625	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:53602625G>A	ENST00000342160.3	-	44	6465	c.6008C>T	c.(6007-6009)aCg>aTg	p.T2003M	HUWE1_ENST00000262854.6_Missense_Mutation_p.T2003M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2003					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCTGACTGCGTATCAAAGTC	0.458																																						ENST00000342160.3											0			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(6007-6009)aCg>aTg	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						111	87	95					X																	53602625		2203	4300	6503	SO:0001583	missense	10075			base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53602625G>A	AB071605	AB071605	CCDS35301.1	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758	ENSG00000086758	ENSG00000086758				30892	30892	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300697	300697	"HECT, UBA and WWE domain containing 1"		"HECT, UBA and WWE domain containing 1"			9205841, 10998601	9205841, 10998601	Standard	Standard	NM_031407	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	uc004dsp.4	Q7Z6Z7	Q7Z6Z7	OTTHUMG00000021617	OTTHUMG00000021617	ENST00000342160.3:c.6008C>T	X.37:g.53602625G>A	ENSP00000340648:p.Thr2003Met		HUWE1_ENST00000262854.6_Missense_Mutation_p.T2003M	p.T2003M			Q7Z6Z7	HUWE1_HUMAN			44	6465	-			2003		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.6008C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449154	0.26074	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37411	1.2;1.2	5.43	4.55	0.56014	5.43	4.55	0.56014	.	0.844996	0.10359	N	0.684181	T	0.22627	0.0546	N	0.08118	0	0.09310	N	1	D;D	0.56521	0.958;0.976	B;B	0.41571	0.197;0.36	T	0.06935	-1.0799	10	0.45353	T	0.12	.	12.7868	0.57510	0.0:0.3067:0.6933:0.0	.	2003;2003	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	M	2003	ENSP00000340648:T2003M;ENSP00000262854:T2003M	ENSP00000262854:T2003M	T	-	2	0	0	HUWE1	53619350	53619350	0.951000	0.32395	0.464000	0.27143	0.881000	0.50899	5.027000	0.64109	1.049000	0.40321	0.600000	0.82982	ACG		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		5.943443	-2	-2	57	57	XM_497119		5	12.42209	12.42209	39	0.113636	0	0	0	1	0	5	39	0.113636	A	53602625	G	A	53602625	3	1	80	1	0	0	0	0	1	0	0	0	7461	1145	40	1	7276	1	HUWE1	23	53602625	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6116751	53602625	101667935	555	2070											
RGAG4	340526	broad.mit.edu	37	X	71349781	71349781	+	Missense_Mutation	SNP	C	C	T	rs373524278		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:71349781C>T	ENST00000545866.1	-	1	1977	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H	RGAG4_ENST00000609883.1_Missense_Mutation_p.R537H|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	537										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTGTCCTAAACGACCTGTGCG	0.587																																						ENST00000545866.1											0			cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1609-1611)cGt>cAt	retrotransposon gag domain containing 4	C	,HIS/ARG	4,3308		0,4,1367,570	46	49	48		,1610	3.2	0.3	X		48	0,6455		0,0,2335,1785	no	intron,missense	RGAG4,NHSL2	NM_001013627.2,NM_001024455.3	,29	0,4,3702,2355	TT,TC,CC,C		0.0,0.1208,0.041	,probably-damaging	,537/570	71349781	4,9763	1941	4120	6061	SO:0001583	missense	340526						g.chrX:71349781C>T	AB082532	AB082532	CCDS55446.1	CCDS55446.1	Xq13.1	2008-02-05			2008-02-05			ENSG00000242732	ENSG00000242732	ENSG00000242732	ENSG00000242732				29430	29430	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12056414, 15716091, 16093683	12056414, 15716091, 16093683	Standard	Standard	NM_001024455	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	uc004eaj.2	Q5HYW3	Q5HYW3	OTTHUMG00000021808	OTTHUMG00000021808	ENST00000545866.1:c.1610G>A	X.37:g.71349781C>T	ENSP00000441366:p.Arg537His		RGAG4_ENST00000609883.1_Missense_Mutation_p.R537H|NHSL2_ENST00000540800.1_Intron	p.R537H	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN			1	1977	-	Renal(35;0.156)		537		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1610G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967446	0.18659	0.001208	0.0	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.17213	2.29;2.29	4.11	3.25	0.37280	4.11	3.25	0.37280	.	.	.	.	.	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	0.999999	P	0.47106	0.89	B	0.33568	0.166	T	0.18335	-1.0340	8	.	.	.	-4.5822	6.6381	0.22895	0.0:0.8701:0.0:0.1299	.	537	Q5HYW3	RGAG4_HUMAN	H	537	ENSP00000441366:R537H;ENSP00000418667:R537H	.	R	-	2	0	0	RGAG4	71266506	71266506	0.874000	0.30092	0.303000	0.25071	0.041000	0.13682	0.315000	0.19451	1.085000	0.41206	0.513000	0.50165	CGT		0.587	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1		4.978184	-9	-9	34	34	NM_001024455		4	9.133811	9.133811	27	0.129032	0	0	0	1	0	4	27	0.129032	T	71349781	C	T	71349781	3	4	80	1	0	0	0	0	1	0	0	0	13275	536	19	1	103	1	RGAG4	23	71349781	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	17747156	71349781	83920779	556	2071											
RGAG4	340526	broad.mit.edu	37	X	71350832	71350832	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:71350832G>A	ENST00000545866.1	-	1	926	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RGAG4_ENST00000609883.1_Missense_Mutation_p.R187W|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	187										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAGGCCACCCGCTCGGCGCCC	0.582																																						ENST00000545866.1											0			cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(559-561)Cgg>Tgg	retrotransposon gag domain containing 4						29	31	30					X																	71350832		1875	4088	5963	SO:0001583	missense	340526						g.chrX:71350832G>A	AB082532	AB082532	CCDS55446.1	CCDS55446.1	Xq13.1	2008-02-05			2008-02-05			ENSG00000242732	ENSG00000242732	ENSG00000242732	ENSG00000242732				29430	29430	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12056414, 15716091, 16093683	12056414, 15716091, 16093683	Standard	Standard	NM_001024455	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	uc004eaj.2	Q5HYW3	Q5HYW3	OTTHUMG00000021808	OTTHUMG00000021808	ENST00000545866.1:c.559C>T	X.37:g.71350832G>A	ENSP00000441366:p.Arg187Trp		RGAG4_ENST00000609883.1_Missense_Mutation_p.R187W|NHSL2_ENST00000540800.1_Intron	p.R187W	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN			1	926	-	Renal(35;0.156)		187		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.559C>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848301	0.51164	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.16597	2.33;2.33	4.37	3.48	0.39840	4.37	3.48	0.39840	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	0.09310	N	0.999995	D	0.76494	0.999	P	0.53146	0.719	T	0.13683	-1.0500	8	.	.	.	-2.2816	8.4173	0.32678	0.0:0.0:0.7679:0.2321	.	187	Q5HYW3	RGAG4_HUMAN	W	187	ENSP00000441366:R187W;ENSP00000418667:R187W	.	R	-	1	2	2	RGAG4	71267557	71267557	0.992000	0.36948	0.364000	0.25888	0.990000	0.78478	1.515000	0.35845	1.137000	0.42214	0.600000	0.82982	CGG		0.582	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1		5.011071	13	13	65	65	NM_001024455		6	12.839135	12.839135	47	0.113208	0	0	0	1	0	6	47	0.113208	A	71350832	G	A	71350832	3	1	80	1	0	0	0	0	1	0	0	0	13275	1086	38	1	1154	1	RGAG4	23	71350832	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1051	71350832	83919728	557	2072											
ERCC6L	54821	broad.mit.edu	37	X	71427099	71427099	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:71427099G>A	ENST00000334463.3	-	2	1653	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Silent_p.I383I	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	506	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CTGTCCCATCGATTCGCAATG	0.373																																						ENST00000373657.1											0			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(1147-1149)atC>atT	excision repair cross-complementing rodent repair deficiency, complementation group 6-like						109	100	103					X																	71427099		2203	4300	6503	SO:0001819	synonymous_variant	54821			cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71427099G>A	AK000112	AK000112	CCDS35329.1	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871	ENSG00000186871	ENSG00000186871				20794	20794	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	"PLK1-interacting checkpoint helicase"	300687	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"		"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	17218258	Standard	Standard	NM_017669	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	uc004eaq.1	Q2NKX8	Q2NKX8	OTTHUMG00000021810	OTTHUMG00000021810	ENST00000334463.3:c.1518C>T	X.37:g.71427099G>A			PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.I506I	p.I383I			Q2NKX8	ERC6L_HUMAN			3	1751	-	Renal(35;0.156)		506		Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	c.1149C>T	CCDS35329.1																																																																																									0.373	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2		52.258273	-2	-2	140	140	NM_017669		20	56.631957	56.631957	59	0.253165	0	0	0	1	0	20	59	0.253165	A	71427099	G	A	71427099	2	1	80	1	0	0	0	0	0	0	0	1	5218	1048	37	1		1	ERCC6L	23	71427099	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	76267	71427099	83843461	558	2073											
SLC16A2	6567	broad.mit.edu	37	X	73751218	73751218	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:73751218G>A	ENST00000587091.1	+	6	1627	c.1450G>A	c.(1450-1452)Ggt>Agt	p.G484S	SLC16A2_ENST00000276033.5_Missense_Mutation_p.G558S	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	484					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTACTTTGCCGGTGTGCCCCC	0.502																																						ENST00000276033.5											0			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1672-1674)Ggt>Agt	solute carrier family 16, member 2 (thyroid hormone transporter)						117	94	101					X																	73751218		2203	4300	6503	SO:0001583	missense	6567				integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73751218G>A			CCDS14426.1, CCDS14426.2	CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100	ENSG00000147100	ENSG00000147100		"Solute carriers"	"Solute carriers"	10923	10923	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300095	300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	7981683, 12871948, 15889350	Standard	Standard	NM_006517	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	uc031tjy.1	P36021	P36021	OTTHUMG00000021857	OTTHUMG00000021857	ENST00000587091.1:c.1450G>A	X.37:g.73751218G>A	ENSP00000465734:p.Gly484Ser		SLC16A2_ENST00000587091.1_Missense_Mutation_p.G484S	p.G558S			P36021	MOT8_HUMAN			6	1838	+			484		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1672G>A	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826924	0.90955	.	.	ENSG00000147100	ENST00000276033	T	0.54279	0.58	5.3	5.3	0.74995	5.3	5.3	0.74995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.79017	-0.1975	10	0.87932	D	0	.	18.0979	0.89497	0.0:0.0:1.0:0.0	.	484	P36021	MOT8_HUMAN	S	558	ENSP00000276033:G558S	ENSP00000276033:G558S	G	+	1	0	0	SLC16A2	73667943	73667943	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.476000	0.97823	2.210000	0.71456	0.529000	0.55759	GGT		0.502	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3		88.026401	-16	-16	60	60			27	88.030522	88.030522	26	0.509434	0	0	0	1	0	27	26	0.509434	A	73751218	G	A	73751218	3	1	80	1	0	0	0	0	1	0	0	0	14408	1116	39	1	1694	1	SLC16A2	23	73751218	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2324119	73751218	81519342	559	2074											
PGAM4	441531	broad.mit.edu	37	X	77224669	77224669	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:77224669G>A	ENST00000458128.1	-	1	466	c.467C>T	c.(466-468)cCg>cTg	p.P156L	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	156					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						AGTATCCTTCGGACTCTCATA	0.517																																						ENST00000458128.1											0			endometrium(2)|lung(4)	6						c.(466-468)cCg>cTg	phosphoglycerate mutase family member 4						80	76	78					X																	77224669		2203	4295	6498	SO:0001583	missense	441531			glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224669G>A	AF465731	AF465731	CCDS35338.1	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784	ENSG00000226784	ENSG00000226784				21731	21731	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300567	300567	"phosphoglycerate mutase family 4"		"phosphoglycerate mutase family 4"			11961099, 9370262	11961099, 9370262	Standard	Standard	NM_001029891	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	uc004ecy.1	Q8N0Y7	Q8N0Y7	OTTHUMG00000057865	OTTHUMG00000057865	ENST00000458128.1:c.467C>T	X.37:g.77224669G>A	ENSP00000412189:p.Pro156Leu		ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	p.P156L	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	466	-			156		Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.467C>T	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.298298	0.00243	.	.	ENSG00000226784	ENST00000458128	T	0.77098	-1.07	0.119	-0.238	0.13055	0.119	-0.238	0.13055	Histidine phosphatase superfamily, clade-1 (2);	0.086607	0.47852	N	0.000206	T	0.24736	0.0600	N	0.00017	-2.83	0.23232	N	0.998077	B	0.02656	0.0	B	0.01281	0.0	T	0.47032	-0.9148	9	.	.	.	-23.5549	4.3246	0.11034	0.7113:0.0:0.2887:0.0	.	156	Q8N0Y7	PGAM4_HUMAN	L	156	ENSP00000412189:P156L	.	P	-	2	0	0	PGAM4	77111325	77111325	1.000000	0.71417	0.114000	0.21550	0.114000	0.19823	4.188000	0.58351	-1.907000	0.01087	-1.858000	0.00562	CCG		0.517	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2		59.877943	-14	-14	165	165	NM_001029891		23	65.820323	65.820323	73	0.239583	0	0	0	1	0	23	73	0.239583	A	77224669	G	A	77224669	3	1	80	1	0	0	0	0	1	0	0	0	11775	1116	39	1	301	1	PGAM4	23	77224669	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3473451	77224669	78045891	560	2075											
PCDH19	57526	broad.mit.edu	37	X	99662742	99662742	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:99662742G>A	ENST00000373034.4	-	1	2529	c.854C>T	c.(853-855)aCg>aTg	p.T285M	PCDH19_ENST00000420881.2_Missense_Mutation_p.T285M|PCDH19_ENST00000255531.7_Missense_Mutation_p.T285M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	285	Cadherin 3. {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)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGCTCGCGCGTGCGGTCGTT	0.612																																						ENST00000373034.4											0			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(853-855)aCg>aTg	protocadherin 19						106	112	110					X																	99662742		2170	4247	6417	SO:0001583	missense	57526			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662742G>A	AB037734	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			2014-06-28			ENSG00000165194	ENSG00000165194	ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	"Cadherins / Protocadherins : Non-clustered"	14270	14270	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300460	300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	11549318, 18469813, 19752159	Standard	Standard	NM_020766	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	uc010nmz.3	Q8TAB3	Q8TAB3	OTTHUMG00000022000	OTTHUMG00000022000	ENST00000373034.4:c.854C>T	X.37:g.99662742G>A	ENSP00000362125:p.Thr285Met		PCDH19_ENST00000420881.2_Missense_Mutation_p.T285M|PCDH19_ENST00000255531.7_Missense_Mutation_p.T285M	p.T285M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2529	-			285	Cadherin 3.	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.854C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307851	0.60305	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.54071	0.59;0.64;0.59	5.95	5.95	0.96441	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.095982	0.64402	D	0.000001	T	0.70219	0.3199	M	0.63208	1.945	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.965;0.972	D;P;P	0.63793	0.918;0.637;0.752	T	0.71556	-0.4557	10	0.66056	D	0.02	.	19.254	0.93938	0.0:0.0:1.0:0.0	.	285;285;285	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	285	ENSP00000400327:T285M;ENSP00000362125:T285M;ENSP00000255531:T285M	ENSP00000255531:T285M	T	-	2	0	0	PCDH19	99549398	99549398	1.000000	0.71417	0.538000	0.28064	0.811000	0.45836	6.733000	0.74796	2.498000	0.84270	0.513000	0.50165	ACG		0.612	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2		48.659946	-41	-41	91	91	NM_020766		20	53.382889	53.382889	61	0.246914	0	0	0	1	0	20	61	0.246914	A	99662742	G	A	99662742	3	1	80	1	0	0	0	0	1	0	0	0	11514	1145	40	1	2616	1	PCDH19	23	99662742	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22438073	99662742	55607818	561	2076											
ARMCX1	51309	broad.mit.edu	37	X	100808010	100808010	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:100808010G>A	ENST00000372829.3	+	4	468	c.97G>A	c.(97-99)Gag>Aag	p.E33K		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	33						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GGGAAGAGACGAGAACGAGAA	0.572																																						ENST00000372829.3											0			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						c.(97-99)Gag>Aag	armadillo repeat containing, X-linked 1						78	68	72					X																	100808010		2203	4300	6503	SO:0001583	missense	51309				integral to membrane	binding	g.chrX:100808010G>A	AB039670	AB039670	CCDS14487.1	CCDS14487.1	Xq21.33-q22.2	2014-03-21			2014-03-21			ENSG00000126947	ENSG00000126947	ENSG00000126947	ENSG00000126947		"Armadillo repeat containing"	"Armadillo repeat containing"	18073	18073	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300362	300362						11162520, 16221301, 22569362	11162520, 16221301, 22569362	Standard	Standard	NM_016608	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	uc004ehv.3	Q9P291	Q9P291	OTTHUMG00000022033	OTTHUMG00000022033	ENST00000372829.3:c.97G>A	X.37:g.100808010G>A	ENSP00000361917:p.Glu33Lys			p.E33K	NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN			4	468	+			33		Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	c.97G>A	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282336	0.59867	.	.	ENSG00000126947	ENST00000372829	T	0.23348	1.91	3.6	3.6	0.41247	3.6	3.6	0.41247	.	0.809987	0.10763	N	0.636898	T	0.28400	0.0702	N	0.12182	0.205	0.29300	N	0.868781	D	0.76494	0.999	D	0.68621	0.959	T	0.09751	-1.0660	10	0.23891	T	0.37	-10.2104	9.701	0.40187	0.0:0.0:1.0:0.0	.	33	Q9P291	ARMX1_HUMAN	K	33	ENSP00000361917:E33K	ENSP00000361917:E33K	E	+	1	0	0	ARMCX1	100694666	100694666	0.991000	0.36638	0.848000	0.33437	0.580000	0.36256	2.394000	0.44450	2.036000	0.60181	0.544000	0.68410	GAG		0.572	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1		0.601473	-8	-8	44	44	NM_016608		3	6.428303	6.428303	31	0.088235	0	0	0	1	0	3	31	0.088235	A	100808010	G	A	100808010	3	1	80	1	0	0	0	0	1	0	0	0	959	1059	37	1	99	1	ARMCX1	23	100808010	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1145268	100808010	54462550	562	2077											
ARMCX2	9823	broad.mit.edu	37	X	100912019	100912019	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:100912019C>T	ENST00000328766.5	-	5	1009	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.E186K|ARMCX2_ENST00000356824.4_Missense_Mutation_p.E186K	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	186	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GCTGCCGCTTCGGTAGGCACC	0.647																																						ENST00000328766.5											0			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(556-558)Gaa>Aaa	armadillo repeat containing, X-linked 2						26	25	25					X																	100912019		2188	4264	6452	SO:0001583	missense	9823				integral to membrane	binding	g.chrX:100912019C>T	AB011084	AB011084	CCDS14490.1	CCDS14490.1	Xq21.33-q22.2	2014-03-21			2014-03-21			ENSG00000184867	ENSG00000184867	ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	"Armadillo repeat containing"	16869	16869	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300363	300363						9628581, 11162520, 16221301, 22569362	9628581, 11162520, 16221301, 22569362	Standard	Standard	XM_005278109	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	uc004eif.3	Q7L311	Q7L311	OTTHUMG00000022038	OTTHUMG00000022038	ENST00000328766.5:c.556G>A	X.37:g.100912019C>T	ENSP00000331662:p.Glu186Lys		ARMCX2_ENST00000330154.2_Missense_Mutation_p.E186K|ARMCX2_ENST00000356824.4_Missense_Mutation_p.E186K	p.E186K	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1009	-			186	Ala-rich.	O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.556G>A	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	3.139	-0.176697	0.06380	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.30448	1.53;1.53;1.53	4.49	-3.09	0.05331	4.49	-3.09	0.05331	.	5.841240	0.00357	N	0.000022	T	0.14830	0.0358	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09335	-1.0679	10	0.07482	T	0.82	-0.0177	1.4606	0.02394	0.1281:0.2008:0.2595:0.4116	.	186	Q7L311	ARMX2_HUMAN	K	186	ENSP00000331662:E186K;ENSP00000328631:E186K;ENSP00000349281:E186K	ENSP00000331662:E186K	E	-	1	0	0	ARMCX2	100798675	100798675	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.683000	0.25349	-0.688000	0.05155	0.468000	0.43344	GAA		0.647	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1		54.412367	-6	-6	69	69	NM_014782		19	55.811424	55.811424	38	0.333333	0	0	0	1	0	19	38	0.333333	T	100912019	C	T	100912019	3	4	80	1	0	0	0	0	1	0	0	0	960	893	31	1	1346	1	ARMCX2	23	100912019	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	104009	100912019	54358541	563	2078											
ZMAT1	84460	broad.mit.edu	37	X	101159302	101159302	+	Splice_Site	SNP	G	G	A	rs141888312		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:101159302G>A	ENST00000372782.3	-	3	170	c.123C>T	c.(121-123)gaC>gaT	p.D41D	ZMAT1_ENST00000458570.1_De_novo_Start_OutOfFrame|ZMAT1_ENST00000540921.1_Splice_Site_p.D41D	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	41						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCAAATGGCGTCTGTGAATA	0.299																																						ENST00000458570.1											0			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22							zinc finger, matrin-type 1	G		0,3833		0,0,0,1631,571	75	67	69		123	2.3	0.1	X	dbSNP_134	69	2,6723		0,1,1,2426,1870	no	coding-synonymous-near-splice	ZMAT1	NM_001011657.3		0,1,1,4057,2441	AA,AG,A,GG,G		0.0297,0.0,0.0189		41/639	101159302	2,10556	2202	4298	6500	SO:0001630	splice_region_variant	84460				nucleus	zinc ion binding	g.chrX:101159302G>A	Z69304	Z69304	CCDS35348.1	CCDS35348.1	Xq21	2012-10-05	2010-09-15		2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432	ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	"Zinc fingers, matrin-type"	29377	29377	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001011657	NM_001011657		Approved	KIAA1789	uc011mrl.2	uc011mrl.2	Q5H9K5	Q5H9K5	OTTHUMG00000022044	OTTHUMG00000022044	ENST00000372782.3:c.122-1C>T	X.37:g.101159302G>A			ZMAT1_ENST00000540921.1_Splice_Site_p.D41D|ZMAT1_ENST00000372782.3_Splice_Site_p.D41D		NM_001282401.1	NP_001269330.1	A7MD47	A7MD47_HUMAN			0	316	-					Q8NDS3|Q96JN6	Translation_Start_Site	SNP	ENST00000372782.3	37		CCDS35348.1																																																																																									0.299	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1		10.190169	3	3	43	43		Silent	4	11.467911	11.467911	14	0.222222	0	0	0	1	0	4	14	0.222222	A	101159302	G	A	101159302	5	1	80	1	0	0	0	0	0	0	1	0	17688	1159	40	1	1813	1	ZMAT1	23	101159302	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	247283	101159302	54111258	564	2079											
SEPT6	23157	broad.mit.edu	37	X	118774741	118774741	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:118774741G>A	ENST00000343984.5	-	6	965	c.701C>T	c.(700-702)cCg>cTg	p.P234L	SEPT6_ENST00000394616.4_Missense_Mutation_p.P176L|SEPT6_ENST00000394617.2_Missense_Mutation_p.P264L|SEPT6_ENST00000394610.1_Missense_Mutation_p.P234L|SEPT6_ENST00000354228.4_Missense_Mutation_p.P234L|SEPT6_ENST00000489216.1_Missense_Mutation_p.P234L|SEPT6_ENST00000360156.7_Missense_Mutation_p.P234L|SEPT6_ENST00000354416.3_Missense_Mutation_p.P234L	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	234	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GACAGCAAACGGCAGGTGGGC	0.547			T	MLL	AML																																	ENST00000394610.1		Dom	yes		X	Xq24	23157	septin 6		L	0			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(700-702)cCg>cTg	septin 6						142	98	113					X																	118774741		2203	4300	6503	SO:0001583	missense	23157			cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118774741G>A	D50918	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			2013-01-21			ENSG00000125354	ENSG00000125354	ENSG00000125354	ENSG00000125354		"Septins"	"Septins"	15848	15848	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300683	300683						8590280, 10744683	8590280, 10744683	Standard	Standard	NM_015129	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	uc004erv.3	Q14141	Q14141	OTTHUMG00000022280	OTTHUMG00000022280	ENST00000343984.5:c.701C>T	X.37:g.118774741G>A	ENSP00000341524:p.Pro234Leu		SEPT6_ENST00000354228.4_Missense_Mutation_p.P234L|SEPT6_ENST00000360156.7_Missense_Mutation_p.P234L|SEPT6_ENST00000394617.2_Missense_Mutation_p.P264L|SEPT6_ENST00000489216.1_Missense_Mutation_p.P234L|SEPT6_ENST00000354416.3_Missense_Mutation_p.P234L|SEPT6_ENST00000343984.5_Missense_Mutation_p.P234L|SEPT6_ENST00000394616.4_Missense_Mutation_p.P176L	p.P234L	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			6	965	-			234		Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.701C>T	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847985	0.91277	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617;ENST00000520510	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	H	0.99555	4.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.95982	0.8978	10	0.87932	D	0	.	17.5271	0.87803	0.0:0.0:1.0:0.0	.	264;176;234;234	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	L	234;234;234;234;234;234;176;264;234	ENSP00000353278:P234L;ENSP00000346169:P234L;ENSP00000418715:P234L;ENSP00000346397:P234L;ENSP00000378108:P234L;ENSP00000341524:P234L;ENSP00000378114:P176L;ENSP00000378115:P264L	ENSP00000341524:P234L	P	-	2	0	0	SEPT6	118658769	118658769	1.000000	0.71417	0.940000	0.37924	0.874000	0.50279	9.476000	0.97823	2.354000	0.79902	0.594000	0.82650	CCG		0.547	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1		55.136603	-3	-3	73	73	NM_145802		18	56.108414	56.108414	33	0.352941	0	0	0	1	0	18	33	0.352941	A	118774741	G	A	118774741	3	1	80	1	0	0	0	0	1	0	0	0	14068	1116	39	1	645	1	SEPT6	23	118774741	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	17615439	118774741	36495819	565	2080											
FAM127A	8933	broad.mit.edu	37	X	134166518	134166518	+	Silent	SNP	C	C	T	rs201161184		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:134166518C>T	ENST00000257013.7	+	1	186	c.105C>T	c.(103-105)ggC>ggT	p.G35G	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CGTTTGACGGCGATACCGACC	0.622																																						ENST00000257013.7											0			endometrium(3)|urinary_tract(1)	4						c.(103-105)ggC>ggT	family with sequence similarity 127, member A						106	108	107					X																	134166518		2163	4233	6396	SO:0001819	synonymous_variant	8933						g.chrX:134166518C>T	Y13374	Y13374	CCDS43997.1	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590	ENSG00000134590	ENSG00000134590				2569	2569	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300213	300213	"CAAX box 1"	CXX1	"CAAX box 1"	CXX1		9403077, 15716091, 16093683	9403077, 15716091, 16093683	Standard	Standard	NM_001078171	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	uc004eyd.3	A6ZKI3	A6ZKI3	OTTHUMG00000022465	OTTHUMG00000022465	ENST00000257013.7:c.105C>T	X.37:g.134166518C>T			FAM127A_ENST00000464369.1_3'UTR	p.G35G	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN			1	186	+	Acute lymphoblastic leukemia(192;0.000127)		35		Q6IBF1	Silent	SNP	ENST00000257013.7	37	c.105C>T	CCDS43997.1																																																																																									0.622	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058391.2		22.822118	-10	-10	126	126	NM_001078171		13	31.491557	31.491557	67	0.1625	0	0	0	1	0	13	67	0.1625	T	134166518	C	T	134166518	2	4	80	1	0	0	0	0	0	0	0	1	5431	755	27	1		1	FAM127A	23	134166518	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15391777	134166518	21104042	566	2081											
GPR101	83550	broad.mit.edu	37	X	136112961	136112961	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:136112961C>T	ENST00000298110.1	-	1	872	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACTGGTCCCCGTGCTTCCTT	0.612																																						ENST00000298110.1											0			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(871-873)acG>acA	G protein-coupled receptor 101						209	142	165					X																	136112961		2203	4300	6503	SO:0001819	synonymous_variant	83550				integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112961C>T	AF411115	AF411115	CCDS14662.1	CCDS14662.1	Xq26.3	2014-01-30			2014-01-30			ENSG00000165370	ENSG00000165370	ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	"GPCR / Class A : Orphans"	14963	14963	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300393	300393						11574155	11574155	Standard	Standard	NM_054021	NM_054021		Approved		uc011mwh.2	uc011mwh.2	Q96P66	Q96P66	OTTHUMG00000022521	OTTHUMG00000022521	ENST00000298110.1:c.873G>A	X.37:g.136112961C>T				p.T291T	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	872	-	Acute lymphoblastic leukemia(192;0.000127)		291		Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.873G>A	CCDS14662.1																																																																																									0.612	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		99.355377	-15	-15	104	104			33	100.117324	100.117324	50	0.39759	0	0	0	1	0	33	50	0.39759	T	136112961	C	T	136112961	2	4	80	1	0	0	0	0	0	0	0	1	6622	639	23	1		1	GPR101	23	136112961	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1946443	136112961	19157599	567	2082											
CNGA2	1260	broad.mit.edu	37	X	150908176	150908176	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:150908176G>A	ENST00000329903.4	+	3	379	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	116					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAAAGGCGACAAGGATGG	0.532																																						ENST00000329903.4											0			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(346-348)Gac>Aac	cyclic nucleotide gated channel alpha 2						129	97	108					X																	150908176		2203	4300	6503	SO:0001583	missense	1260			response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150908176G>A	S76067	S76067	CCDS14701.1	CCDS14701.1	Xq27	2011-07-05			2011-07-05			ENSG00000183862	ENSG00000183862	ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	2149	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300338	300338		CNCA1, CNCA		CNCA1, CNCA		7532814, 16382102	7532814, 16382102	Standard	Standard	NM_005140	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	uc004fey.1	Q16280	Q16280	OTTHUMG00000024173	OTTHUMG00000024173	ENST00000329903.4:c.346G>A	X.37:g.150908176G>A	ENSP00000328478:p.Asp116Asn			p.D116N	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			3	379	+	Acute lymphoblastic leukemia(192;6.56e-05)		116		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.346G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.482817	0.26598	.	.	ENSG00000183862	ENST00000329903	D	0.97279	-4.32	5.58	-0.754	0.11065	5.58	-0.754	0.11065	.	0.286206	0.37623	N	0.002004	D	0.89483	0.6728	L	0.29908	0.895	0.25493	N	0.987627	B	0.29766	0.256	B	0.18871	0.023	T	0.80948	-0.1154	10	0.07644	T	0.81	.	5.3436	0.15996	0.309:0.248:0.443:0.0	.	116	Q16280	CNGA2_HUMAN	N	116	ENSP00000328478:D116N	ENSP00000328478:D116N	D	+	1	0	0	CNGA2	150658832	150658832	1.000000	0.71417	0.973000	0.42090	0.445000	0.32107	1.703000	0.37846	-0.301000	0.08882	0.529000	0.55759	GAC		0.532	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1		31.175923	2	2	87	87	NM_005140		12	34.080393	34.080393	37	0.244898	0	0	0	1	0	12	37	0.244898	A	150908176	G	A	150908176	3	1	80	1	0	0	0	0	1	0	0	0	3597	1058	37	1	356	1	CNGA2	23	150908176	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14795215	150908176	4362384	568	2083											
